Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES986-M	WT	HH	HZ	NC
chr1	970894	970894	C	T	exonic	PLEKHN1	.	nonsynonymous SNV	PLEKHN1:NM_001160184:exon6:c.C500T:p.P167L,PLEKHN1:NM_001367552:exon6:c.C500T:p.P167L,PLEKHN1:NM_032129:exon6:c.C500T:p.P167L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.142107906474	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199820849	1.508e-05	1.505e-05	1.501e-05	1.515e-05	1.979e-05	9.87e-06	8.43e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.979e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.72154	D	0.004	0.74150	D	0.998	0.73220	D	0.974	0.73157	D	0.000457	0.44317	D	0.151332	0.636829	0.32840	D	2.39	0.68882	M	1.01	0.57729	T	-6.12	0.90060	D	0.6	0.65758	-0.2799	0.75543	T	0.296	0.66773	T	10	0.5313421	0.63201	D	0.142108	0.82450	D	0.217	0.51112	0.5	0.59147	0.827656281967	0.82602	0.35963055123825977	0.35877	0.0583781422182	0.06466	0.583729088306	0.50611	T	.	.	.	0.000696309	0.51749	T	-0.216505	0.53073	T	0.956456243991852	0.64761	D	0.90401	0.68205	D	0.2506851	0.48072	0.27209303	0.53116	0.2506851	0.48072	0.27209303	0.53115	-12.89	0.88904	D	.	.	0.526	0.73198	A	.;.;.	.;.;.	4.513702	0.70713	25.6	0.99866499176576928	0.94457	0.15329	0.18858	N	AEFBI	0.121747	0.23656	N	0.22548525307837	0.52437	3.417851	0.112528311988089	0.45187	2.786464	0.998412967099199	0.36924	0.652421	0.48094	0	0.588066	0.40923	0	0.64067	0.45733	0	0.616125	0.45549	0	.	.	4.74	4.74	0.59717	3.346000	0.51907	.	.	0.589000	0.31548	0.312000	0.25432	1.000000	0.68203	0.355000	0.25773	0.0:1.0:0.0:0.0	14.567	0.67777	906	0.23090	Pleckstrin homology domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	434.53	34	chr1	970894	.	C	T	434.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.207;DP=201;ExcessHet=0;FS=1.226;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.59;SOR=0.489	GT:AD:DP:GQ:PL	0/1:24,18:42:99:445,0,668	6	0	1	0
chr1	980234	980234	T	A	exonic	PERM1	.	nonsynonymous SNV	PERM1:NM_001369898:exon1:c.A796T:p.T266S,PERM1:NM_001291366:exon2:c.A796T:p.T266S,PERM1:NM_001369897:exon2:c.A796T:p.T266S,PERM1:NM_001291367:exon3:c.A454T:p.T152S	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00579008305942	.	0.00179712	0.0008	0	0	0	0	0.0015	0	0.0007	0.0004398	68	154602	rs186435690	0.0019	0.0018	0.0019	0.0019	0.0032	0.0018	0.0018	0.0022	0.0021	0.0005	0.0008	7.942e-05	0	8.337e-05	0.0032	0.0023	0.0022	0.0003	0.0016	0.0016	0.0017	0.0015	0.0027	0.0014	0.0014	0.0024	0.0023	0.0006	0.0066	0.0014	0	0	0.0002	0.0034	0.0027	0.0019	0.0008	0.279	0.15561	T	0.659	0.08839	T	.	.	.	.	.	.	0.551365	0.05372	N	1.263340	1	0.08975	N	.	.	.	.	.	.	-1.06	0.27669	N	0.05	0.02179	-1.0642	0.10736	T	0.053	0.22655	T	9	0.004563421	0.00095	T	0.00579	0.15042	T	0.015	0.02232	.	.	0.0297737177859	0.01360	0.051393872434996796	0.05081	.	.	.	.	.	0.028445	0.20604	T	-0.636245	0.00088	T	-0.689119	0.06440	T	0.00182761711972238	0.00019	T	0.342666	0.10263	T	0.028213155	0.02124	0.03697222	0.03251	0.028213155	0.02124	0.03697222	0.03250	-3.26	0.13227	T	.	.	0.142	0.31228	B	.;.	.;.	-0.556608	0.01695	0.123	0.6366384684374824	0.07284	0.05448	0.11325	N	AEFDGBCI	0.108101	0.21516	N	-1.33006194469544	0.03336	0.1488563	-1.4808714068551	0.02501	0.1151442	0.999919450837561	0.45857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.79	-7.54	0.01189	-2.041000	0.01503	.	.	-0.229000	0.07765	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1119:0.179:0.2216:0.4876	2.197	0.03674	855	0.34697	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2466.53	40	chr1	980234	.	T	A	2466.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.43;DP=413;ExcessHet=0;FS=2.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.097;SOR=0.906	GT:AD:DP:GQ:PL	0/1:98,90:188:99:2477,0,2640	6	0	1	0
chr1	1049280	1049280	C	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon25:c.C4343T:p.P1448L	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	1	1511	10	0	0	10	0.00329815	.	.	.	514957	Congenital_myasthenic_syndrome_8|not_provided	MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.333334619255	0.0012	0.000998403	0.0011	0.0007	0.0020	0	0	0.0013	0	0.0008	0.0007309	113	154602	rs200232485	0.0010	0.0010	0.0011	0.0010	0.0024	0.0010	0.0010	0.0015	0.0012	0.0004	0.0010	7.706e-05	0	5.077e-05	0.0024	0.0012	0.0012	0.0004	0.0011	0.0011	0.0012	0.0010	0.0016	0.0009	0.0009	0.0013	0.0012	0.0006	0	0.0016	0	0	0	0.0068	0.0015	0.0014	0.0006	0.243	0.17526	T	0.376	0.16865	T	.	.	.	.	.	.	0.011579	0.29481	U	0.225469	0.996379	0.43168	D	1.49	0.37298	L	-0.93	0.75215	T	-2.75	0.58407	D	0.251	0.28498	-0.7763	0.56509	T	0.252	0.62178	T	10	0.019664317	0.00442	T	0.333335	0.91813	D	0.155	0.40530	.	.	0.737702582196	0.73536	0.5664000447503535	0.56568	0.133641560879	0.15049	0.684308111668	0.64888	T	.	.	.	-0.45854	0.01004	T	-0.481878	0.24246	T	0.00429805636149428	0.00046	T	0.670133	0.28201	T	.	.	.	.	.	.	.	.	-8.217	0.62539	D	.	.	0.084	0.09530	B	.;.	.;.	0.980890	0.13585	10.11	0.96303639421162202	0.29357	0.25897	0.22835	N	AEFBI	0.140284	0.26214	N	-0.917378409764807	0.10436	0.4986686	-0.909985172697628	0.11858	0.6066828	0.476908182742424	0.20753	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.37	3.45	0.38602	0.526000	0.22680	0.757000	0.21283	-1.090000	0.01539	0.017000	0.19353	0.004000	0.18990	0.000000	0.00833	0.0:0.7711:0.1448:0.0841	9.310	0.37062	940	0.13648	.;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003052	0.000000	0.002747	0.000000	0.000000	0.000000	0.009202	0.000000	0.07143	736.83	24	chr1	1049280	.	C	T	736.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.44;DP=209;ExcessHet=0;FS=5.356;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.783;SOR=1.839	GT:AD:DP:GQ:PL	0/1:26,25:51:99:747,0,586	6	0	1	0
chr1	2030055	2030055	C	G	exonic	GABRD	.	nonsynonymous SNV	GABRD:NM_000815:exon9:c.C1132G:p.R378G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0844335498492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.386	0.15698	T	0.11	0.26188	B	0.069	0.27757	B	0.860429	0.07113	N	1.062530	0.580907	0.31100	N	-0.345	0.03330	N	-1.7	0.83072	D	-0.81	0.22294	N	0.145	0.14622	-0.6843	0.61173	T	0.296	0.66792	T	10	0.14054975	0.26714	T	0.084434	0.74324	D	0.188	0.46444	0.517	0.61763	0.563816864172	0.56044	0.6253666365787925	0.62469	0.963082485993	0.73071	0.349019825459	0.17777	T	0.161079	0.50518	T	-0.0853696	0.38839	T	-0.360404	0.38006	T	0.152740423142939	0.17320	T	0.906209	0.66975	D	0.074366726	0.16684	0.09556733	0.22673	0.074366726	0.16684	0.09556733	0.22672	-3.222	0.12751	T	.	.	0.076	0.14062	B	.;.;.;.	.;.;.;.	2.598231	0.33719	19.42	0.88593904453094197	0.18100	0.76783	0.37686	D	AEFDBI	0.431620	0.49383	N	-0.502670221273255	0.21994	1.171253	-0.375319464228222	0.25735	1.417086	0.372325521909137	0.19882	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.82	2.86	0.32427	2.089000	0.41297	3.912000	0.40415	0.549000	0.26987	0.958000	0.33488	1.000000	0.68203	0.876000	0.41813	0.4749:0.5251:0.0:0.0	9.072	0.35661	934	0.15400	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1040.53	40	chr1	2030055	.	C	G	1040.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.352;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-1.859;SOR=0.788	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1051,0,738	6	0	1	0
chr1	3514627	3514627	C	T	exonic	MEGF6	.	nonsynonymous SNV	MEGF6:NM_001409:exon7:c.G776A:p.C259Y	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.942	0.374844724407	0.0007	.	0.0010	0	0.0015	0	0	0.0016	0.0037	0.0001	0.0004657	72	154602	rs61746170	0.0006	0.0006	0.0006	0.0006	0.0025	0.0005	0.0005	0.0015	0.0012	6.067e-05	0.0008	0.0066	0	0	0.0025	0.0005	0.0008	0.0002	0.0004	0.0004	0.0004	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	2.405e-05	0	0.0002	0.0043	0	0	0	0.0006	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999624	0.47904	D	4.535	0.99082	H	-3.96	0.96208	D	-10.15	0.98897	D	0.957	0.96644	1.074	0.98695	D	0.966	0.98907	D	10	0.63522446	0.68743	D	0.374845	0.92833	D	0.942	0.98780	.	.	0.943591150741	0.94300	0.9764335598677684	0.97633	0.682638554122	0.60123	0.659506201744	0.61338	T	0.257311	0.62833	T	0.260558	0.79580	D	0.536742	0.95380	D	0.968768715858459	0.68355	D	0.824517	0.49813	T	0.96382153	0.97662	0.8992199	0.94920	0.96382153	0.97662	0.8992199	0.94921	-10.107	0.80615	D	.	.	0.917	0.86793	P	.;.	.;.	4.526193	0.71015	25.6	0.97465231372864414	0.34105	0.95458	0.64801	D	AEFDBI	0.792390	0.72070	D	0.680934272292089	0.78383	6.86059	0.475667940971909	0.66381	4.944723	0.999903842972298	0.45458	0.706298	0.61202	0	0.588066	0.40923	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.47	3.54	0.39650	5.575000	0.67129	5.712000	0.49429	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.678000	0.33484	0.0:0.8499:0.1501:0.0	14.260	0.65624	982	0.03397	.;EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002543	0.005319	0.000000	0.000000	0.000000	0.000000	0.012346	0.000000	0.07143	310.46	30	chr1	3514627	.	C	T	310.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.972;DP=202;ExcessHet=0;FS=4.815;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.57;ReadPosRankSum=-0.447;SOR=1.414	GT:AD:DP:GQ:PL	0/1:26,15:41:99:321,0,589	6	0	1	0
chr1	3752792	3752792	G	A	exonic	CCDC27	.	nonsynonymous SNV	CCDC27:NM_152492:exon1:c.G311A:p.R104K	.	426	1088	8	0	0	8	0.003663	.	.	.	707393	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.018	.	0.0073	0.00259585	0.0073	0.0016	0.0026	0	0.0055	0.0111	0.0037	0.0036	0.0069921	1081	154602	rs76597070	0.0098	0.0098	0.0100	0.0097	0.0118	0.0097	0.0096	0.0116	0.0115	0.0012	0.0033	0.0018	2.523e-05	0.0041	0.0026	0.0118	0.0074	0.0039	0.0063	0.0064	0.0067	0.0060	0.0111	0.0060	0.0059	0.0104	0.0102	0.0017	0.0033	0.0050	0.0009	0	0.0031	0	0.0111	0.0076	0.0023	0.383	0.11085	T	0.421	0.14075	T	0.007	0.14184	B	0.012	0.16012	B	0.033410	0.01770	N	2.401620	1	0.08975	N	0.625	0.15840	N	2.22	0.18248	T	-0.46	0.14978	N	0.076	0.05037	-1.0139	0.25688	T	0.018	0.07329	T	10	0.003395021	0.00059	T	.	.	.	0.018	0.03083	.	.	0.0716867268079	0.06686	0.05270353912556079	0.05212	0.346303647029	0.36533	0.228208944201	0.01838	T	0.005128	0.04570	T	-0.700079	0.00036	T	-0.768003	0.02834	T	0.00132913653060194	0.00013	T	0.289471	0.05256	T	0.04159904	0.06155	0.033386953	0.02226	0.04159904	0.06155	0.033386953	0.02226	-3.844	0.21463	T	.	.	0.106	0.19598	B	.	.	0.229510	0.06111	2.554	0.65504760637627757	0.07791	0.01382	0.04705	N	AEFGBI	0.039052	0.05616	N	-1.13407768304089	0.06046	0.277277	-1.16414888391226	0.06517	0.3139665	0.92124792655433	0.26665	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.95	-0.267	0.12298	-0.145000	0.10248	-0.137000	0.11557	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.4716:0.0:0.5284:0.0	6.504	0.21381	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002525	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.011450	0.07143	893.83	37	chr1	3752792	.	G	A	893.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.844;DP=266;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.574;SOR=0.765	GT:AD:DP:GQ:PL	0/1:37,36:73:99:904,0,902	6	0	1	0
chr1	3836493	3836493	A	C	splicing	CEP104	NM_014704:exon10:c.1317+2T>G	.	.	Joubert syndrome 25, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.96	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.735e-05	6.102e-05	3.846e-05	3.617e-05	0.0004	2.688e-05	2.371e-05	0.0002	0.0002	7.327e-05	7.78e-05	0.0003	0	0	0	1.969e-05	5.547e-05	0.0004	5.197e-05	0.0006	0.0001	0	0.0002	0	0	.	.	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.591722	0.72633	25.9	0.99213772171432246	0.55685	0.99525	0.97065	D	AEFDBI	.	.	.	1.04252772716544	0.96910	15.31459	0.857870838013166	0.93466	12.06219	0.999999134379761	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.060301	0.00762	0	0.117559	0.03655	0	0.948117	0.61440	5.68	5.68	0.88021	8.725000	0.91200	10.879000	0.84044	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.393000	0.26625	1.0:0.0:0.0:0.0	15.110	0.72020	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	102.52	23	chr1	3836493	.	A	C	102.52	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.415;DP=175;ExcessHet=0.3476;FS=8.097;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1.31;ReadPosRankSum=1.76;SOR=2.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,6:31:96:0|1:3836468_G_GT:96,0,610:3836468	3	0	2	2
chr1	6630303	6630303	A	G	exonic	THAP3	.	nonsynonymous SNV	THAP3:NM_001195752:exon3:c.A280G:p.T94A,THAP3:NM_138350:exon3:c.A283G:p.T95A,THAP3:NM_001195753:exon4:c.A283G:p.T95A	.	425	1090	7	0	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.0613799549596	0.0002	0.000199681	0.0006	0	0	0	0	0.0001	0	0.0037	0.0004786	74	154602	rs148747343	0.0003	0.0003	0.0002	0.0005	0.0042	0.0003	0.0003	0.0038	0.0037	0	2.236e-05	0	2.519e-05	0	0.0010	6.205e-05	0.0003	0.0042	0.0002	0.0002	0.0001	0.0003	0.0044	0.0001	0.0001	0.0029	0.0024	2.405e-05	0	6.536e-05	0.0003	0	0	0	8.82e-05	0	0.0044	0.177	0.22224	T	1.0	0.03569	T	0.004	0.18235	B	0.005	0.15521	B	0.994509	0.08008	N	0.996963	1	0.81001	D	1.1	0.28011	L	-3.42	0.96402	D	-1.12	0.28906	N	0.049	0.06720	-0.2432	0.76543	T	0.674	0.88729	D	10	0.0040020645	0.00077	T	0.06138	0.68313	D	0.270	0.58507	.	.	0.553267683787	0.54984	0.4349880892945823	0.43415	0.332213599554	0.35278	0.331973135471	0.15233	T	0.012417	0.10917	T	-0.364904	0.03860	T	-0.297456	0.44992	T	0.0077044751579635	0.00090	T	0.526647	0.17353	T	0.053934474	0.10277	0.047416437	0.06826	0.053934474	0.10276	0.047416437	0.06826	-2.969	0.12117	T	.	.	0.067	0.02702	B	.;.;.	.;.;.	0.901047	0.12752	9.269	0.93570141926002548	0.23412	0.05144	0.10955	N	AEFGBI	0.065149	0.12691	N	-0.859857137320304	0.11808	0.5719111	-0.763990370126673	0.15380	0.8085368	0.87874791393147	0.25572	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.25	0.673	0.17109	-0.067000	0.11538	0.124000	0.14956	0.733000	0.85838	0.064000	0.21895	0.000000	0.08366	0.997000	0.79791	0.6517:0.0:0.3483:0.0	5.804	0.17693	759	0.50631	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	449.63	24	chr1	6630303	.	A	G	449.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.987;DP=218;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.75;ReadPosRankSum=-1.78;SOR=0.757	GT:AD:DP:GQ:PL	0/1:36,22:58:99:460,0,839	6	0	1	0
chr1	11519395	11519395	C	T	exonic	DISP3	.	nonsynonymous SNV	DISP3:NM_020780:exon8:c.C1930T:p.P644S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0567120109418	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1311858743	6.842e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	1.314e-05	1.313e-05	0	2.69e-05	4.826e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	0	0	0	0.368	0.11623	T	1.0	0.01155	T	0.002	0.09854	B	0.007	0.12992	B	0.790838	0.06711	N	1.085490	0.996539	0.22984	N	.	.	.	-2.46	0.88924	D	-0.73	0.20576	N	0.098	0.07949	-0.6242	0.63814	T	0.485	0.80350	T	10	0.09923577	0.17995	T	0.056712	0.66705	D	0.198	0.48105	0.464	0.53404	0.568643509186	0.56530	0.33847422116055503	0.33760	0.378204969424	0.39240	0.33758097887	0.16075	T	0.004639	0.04050	T	-0.109541	0.34844	T	-0.395125	0.33953	T	0.0333108817039525	0.02523	T	0.671533	0.28021	T	0.027146135	0.01866	0.0366615	0.03158	0.027146135	0.01866	0.0366615	0.03157	-4.655	0.32855	T	.	.	0.075	0.05404	B	.	.	1.700426	0.21659	15.29	0.98182418971041674	0.38958	0.58172	0.30571	D	AEFDBI	0.094285	0.19066	N	-0.383500522658516	0.26057	1.419167	-0.249503658525977	0.29789	1.671809	0.495878583240165	0.20902	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.52	2.25	0.27340	1.169000	0.31480	2.701000	0.34161	0.597000	0.34315	0.839000	0.30269	0.969000	0.29651	0.652000	0.32748	0.0:0.5148:0.2795:0.2057	4.838	0.12838	834	0.38640	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	917.44	33	chr1	11519395	.	C	T	917.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.049;DP=274;ExcessHet=0;FS=5.637;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.283;SOR=0.993	GT:AD:DP:GQ:PL	0/1:44,39:83:99:928,0,1084	6	0	1	0
chr1	11706436	11706436	C	T	exonic	DRAXIN	.	nonsynonymous SNV	DRAXIN:NM_198545:exon2:c.C178T:p.R60W	.	409	1100	12	1	0	14	0.0063234	.	.	.	2805715	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.095	0.0534251646526	0.0034	0.00139776	0.0041	0.0010	0.0017	0	0.0011	0.0058	0.0077	0.0040	0.0037645	582	154602	rs202026446	0.0048	0.0048	0.0047	0.0050	0.0055	0.0048	0.0047	0.0054	0.0053	0.0009	0.0023	0.0069	5.042e-05	0.0010	0.0044	0.0055	0.0039	0.0041	0.0045	0.0045	0.0046	0.0044	0.0056	0.0042	0.0041	0.0051	0.0049	0.0011	0.1872	0.0017	0.0066	0	0.0011	0.0034	0.0056	0.0019	0.0054	0.007	0.59928	D	0.011	0.64786	D	1.0	0.90584	D	0.996	0.84481	D	0.011499	0.29512	N	0.286982	0.605701	0.32577	D	2.28	0.64929	M	0.86	0.46777	T	-3.5	0.68178	D	0.293	0.33140	-0.3685	0.73007	T	0.253	0.62337	T	10	0.0045908093	0.00096	T	0.053425	0.65463	D	0.095	0.27398	.	.	0.494098832713	0.49043	0.3163542767173148	0.31548	0.819352312627	0.67090	0.350747287273	0.18032	T	0.321407	0.69251	T	-0.408736	0.02027	T	-0.357979	0.38285	T	0.0251006353209914	0.01286	T	0.855914	0.54393	D	0.15999727	0.35911	0.110200934	0.26570	0.15999727	0.35911	0.110200934	0.26569	-5.73	0.43959	T	.	.	0.107	0.20038	B	.	.	3.521114	0.49360	22.8	0.99902437920298948	0.97426	0.86999	0.46410	D	AEFDBI	0.299693	0.40868	N	0.269223694020598	0.54597	3.624792	0.164051533808	0.47890	3.012659	0.998897943115593	0.37915	0.643511	0.44296	0	0.59043	0.45803	0	0.688494	0.62686	0	0.542086	0.14980	0	.	.	4.75	3.82	0.43153	2.003000	0.40464	0.750000	0.21229	0.549000	0.26987	0.995000	0.38783	0.053000	0.21875	0.073000	0.16832	0.1781:0.8218:0.0:0.0	11.595	0.50224	874	0.30607	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004036	0.005155	0.002717	0.002941	0.050000	0.000000	0.012195	0.003788	0.07143	323.63	12	chr1	11706436	.	C	T	323.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.966;DP=174;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.89;ReadPosRankSum=-0.401;SOR=0.853	GT:AD:DP:GQ:PL	0/1:25,16:41:99:334,0,680	6	0	1	0
chr1	12893382	12893382	C	T	exonic	PRAMEF10	.	nonsynonymous SNV	PRAMEF10:NM_001039361:exon4:c.G959A:p.S320N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00097296239023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.841e-07	1.364e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.303	0.20164	T	0.404	0.34945	B	0.268	0.39801	B	0.404322	0.13082	N	0.740466	1	0.08975	N	2.43	0.70455	M	2.94	0.09728	T	-1.85	0.43334	N	0.11	0.09631	-1.0131	0.25943	T	0.030	0.13067	T	10	0.09677926	0.17384	T	9.73E-4	0.01003	T	0.024	0.04979	0.379	0.39482	0.043077524339	0.03247	0.1385837449518486	0.13781	.	.	0.547900915146	0.45561	T	0.013209	0.11466	T	-0.401472	0.02265	T	-0.814463	0.01567	T	0.316760897636414	0.25690	T	.	.	.	0.02063687	0.00629	0.04760471	0.06894	0.02063687	0.00629	0.04760471	0.06894	-4.383	0.29326	T	.	.	0.145	0.31882	B	.	.	0.539908	0.09088	5.868	0.92602036304499291	0.22065	0.00100	0.00648	N	AEFI	0.018087	0.00522	N	-0.799898519085951	0.13313	0.654942	-0.991859272730351	0.09967	0.4990798	1.55201295648864E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.92	-1.5	0.08233	-1.383000	0.02650	-14.808000	0.00386	0.235000	0.18186	0.000000	0.06391	0.000000	0.08366	0.211000	0.22211	0.0:0.3492:0.2776:0.3731	2.507	0.04364	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1814.44	81	chr1	12893382	.	C	T	1814.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=676;ExcessHet=0;FS=0.484;MLEAC=1;MLEAF=0.071;MQ=54.66;MQRankSum=0.748;QD=6.75;ReadPosRankSum=-0.692;SOR=0.762	GT:AD:DP:GQ:PL	0/1:184,85:269:99:1825,0,4582	6	0	1	0
chr1	15487436	15487436	C	A	exonic	CELA2B	.	stopgain	CELA2B:NM_015849:exon7:c.C791A:p.S264X	.	429	1092	1	0	0	1	0.000457666	0.0002	0.178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765578060	3.42e-06	4.104e-06	5.445e-06	1.375e-06	2.236e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.236e-05	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174730	0.03138	U	1.940610	0.954796	0.26357	N	.	.	.	.	.	.	.	.	.	0.158	0.16447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342697	0.86016	D	0.254484	0.85832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.588115	0.96667	36	0.93141077115308324	0.22785	0.03149	0.08110	N	AEFDBI	0.193057	0.32019	N	-0.0349845572781547	0.40275	2.389076	-0.4105780063068	0.24687	1.353257	7.11402723864534E-4	0.07685	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.62	-0.878	0.10079	0.024000	0.13447	-4.361000	0.02197	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.6004:0.3996:0.0:0.0	12.537	0.55491	922	0.19044	Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1795.44	52	chr1	15487436	.	C	A	1795.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.053;DP=456;ExcessHet=0;FS=5.033;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-0.064;SOR=0.428	GT:AD:DP:GQ:PL	0/1:118,83:201:99:1806,0,2722	6	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4286	16269.5	430	chr1	16563946	.	C	T	16269.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.38;DP=3010;ExcessHet=8.2628;FS=0.606;MLEAC=6;MLEAF=0.429;MQ=58.73;MQRankSum=-7.271;QD=6.67;ReadPosRankSum=-0.073;SOR=0.812	GT:AD:DP:GQ:PL	0/1:384,165:549:99:3610,0,10119	1	0	6	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4286	18013.5	619	chr1	16563989	.	G	C	18013.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.809;DP=4019;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=59.42;MQRankSum=-0.593;QD=5.25;ReadPosRankSum=0.556;SOR=0.723	GT:AD:DP:GQ:PL	0/1:522,240:762:99:4930,0,12922	1	0	6	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.4286	15251.5	646	chr1	16564107	.	T	G	15251.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.876;DP=3869;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=3.18;QD=4.75;ReadPosRankSum=1.46;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:544,120:664:99:.:.:1516,0,16610:.	1	0	6	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	26158.1	476	chr1	16564144	.	C	T	26158.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.919;DP=3008;ExcessHet=14.2834;FS=3.476;MLEAC=7;MLEAF=0.5;MQ=52.79;MQRankSum=-17.02;QD=8.98;ReadPosRankSum=0.726;SOR=0.923	GT:AD:DP:GQ:PL	0/1:244,194:438:99:4996,0,8698	0	0	7	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	19289.1	458	chr1	16564149	.	C	T	19289.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.453;DP=2860;ExcessHet=14.2834;FS=1.998;MLEAC=7;MLEAF=0.5;MQ=52.6;MQRankSum=6.43;QD=6.88;ReadPosRankSum=-0.812;SOR=0.526	GT:AD:DP:GQ:PL	0/1:253,172:425:99:3943,0,9052	0	0	7	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.2857	4008.13	353	chr1	16569091	.	T	C	4008.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.173;DP=1782;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=43.63;MQRankSum=-1.456;QD=3.26;ReadPosRankSum=0.533;SOR=0.69	GT:AD:DP:GQ:PL	0/1:425,73:498:99:442,0,10760	3	0	4	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	2070.98	13	chr1	16759590	.	G	GC	2070.98	.	AC=8;AF=0.571;AN=14;BaseQRankSum=5.81;DP=263;ExcessHet=0.0509;FS=7.311;MLEAC=8;MLEAF=0.571;MQ=43.96;MQRankSum=-0.716;QD=10.57;ReadPosRankSum=-3.26;SOR=0.626	GT:AD:DP:GQ:PL	0/1:56,8:64:91:91,0,1784	2	3	2	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	2844.02	141	chr1	16760446	.	C	T	2844.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.82;DP=799;ExcessHet=8.2628;FS=21.558;MLEAC=6;MLEAF=0.429;MQ=46.08;MQRankSum=-0.253;QD=4.21;ReadPosRankSum=1.1;SOR=2.08	GT:AD:DP:GQ:PL	0/1:68,35:103:99:723,0,1864	1	0	6	0
chr1	16760785	16760785	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon3:c.C304A:p.R102S	.	351	1167	1	0	3	4	0.000428266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs750286755	1.027e-05	3.352e-05	5.448e-06	1.513e-05	1.349e-05	6.17e-06	4.89e-06	8.1e-06	6.42e-06	0	0	0	0	0	0	1.349e-05	0	0	1.32e-05	1.315e-05	0	2.703e-05	2.455e-05	2.19e-06	8.2e-07	.	.	2.455e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1035.44	219	chr1	16760785	.	G	T	1035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.44;DP=1635;ExcessHet=0;FS=3.678;MLEAC=1;MLEAF=0.071;MQ=56.14;MQRankSum=0.253;QD=4.71;ReadPosRankSum=-0.173;SOR=0.466	GT:AD:DP:GQ:PL	0/1:168,52:220:99:1046,0,4406	6	0	1	0
chr1	17044783	17044783	T	C	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon2:c.A178G:p.T60A	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	238187	Gastrointestinal_stromal_tumor|not_provided|Paragangliomas_4|Pheochromocytoma|SDHB-related_disorder|Carney-Stratakis_syndrome|Cowden_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_pheochromocytoma-paraganglioma	Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:CN239418|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286|MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.845	0.342984829718	0.0002	.	7.414e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs34599281	9.988e-05	9.987e-05	9.938e-05	0.0001	0.0001	8.646e-05	8.134e-05	0.0001	9.768e-05	5.974e-05	0	0	0	0	0	0.0001	4.968e-05	6.956e-05	6.57e-05	6.567e-05	3.854e-05	9.412e-05	0.0003	3.516e-05	2.616e-05	0.0001	8.291e-05	0	0	0.0003	0	0	0	0	7.35e-05	0	0	0.023	0.48186	D	0.122	0.47581	T	0.001	0.07471	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.685	0.78553	M	-5.16	0.98796	D	-2.12	0.48184	N	0.862	0.85872	0.936	0.96183	D	0.934	0.97826	D	10	0.67948496	0.71193	D	0.342985	0.92065	D	0.845	0.95175	.	.	0.983091551675	0.98290	0.6323818218709532	0.63172	0.173623914911	0.19547	0.53711026907	0.44037	T	0.784768	0.94350	D	0.222567	0.76019	D	0.307627	0.88546	D	0.233980460552231	0.22140	T	0.974802	0.91047	D	0.43043634	0.62780	0.33751005	0.59540	0.42033783	0.62115	0.3684294	0.62133	-9.051	0.68025	D	0.2740677902587844	0.36822	0.114	0.24733	B	.;.;.	.;.;.	3.784237	0.54430	23.5	0.99376413964294741	0.61671	0.97498	0.75138	D	AEFDBI	0.876760	0.80096	D	0.240035330793247	0.53149	3.485047	0.373105705437549	0.59912	4.173247	0.999999999991865	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.242000	0.77660	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.0:1.0	14.843	0.69869	835	0.38313	Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	4693.26	34	chr1	17044783	.	T	C	4693.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.49;DP=577;ExcessHet=0.3476;FS=3.214;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.2;SOR=0.791	GT:AD:DP:GQ:PL	0/1:109,110:219:99:2382,0,2287	5	0	2	0
chr1	17438267	17438267	A	G	exonic	RCC2	.	nonsynonymous SNV	RCC2:NM_001136204:exon1:c.T248C:p.V83A,RCC2:NM_018715:exon2:c.T248C:p.V83A	.	359	1149	14	0	0	14	0.00605536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0013	0.00219649	0.0045	0.0006	0.0016	0.0002	0.0047	0.0041	0	0.0126	0.0022057	341	154602	rs200660338	0.0028	0.0027	0.0027	0.0030	0.0087	0.0027	0.0027	0.0080	0.0078	0.0005	0.0007	0	5.18e-05	0.0033	0.0051	0.0027	0.0019	0.0087	0.0023	0.0023	0.0021	0.0026	0.0107	0.0021	0.0020	0.0083	0.0075	0.0005	0	0.0007	0	0	0.0033	0	0.0034	0.0024	0.0107	0.369	0.11586	T	0.806	0.03993	T	0.0	0.02946	B	0.0	0.01387	B	0.774214	0.09523	N	0.852017	0.99918	0.21543	N	1.085	0.27262	L	1.33	0.35031	T	0.39	0.03521	N	0.1	0.09207	-0.9890	0.32853	T	0.048	0.20395	T	10	0.0034547746	0.00061	T	.	.	.	0.014	0.01968	.	.	0.043077524339	0.03247	0.19436126816134353	0.19354	1.63069660363	0.89218	0.824599742889	0.85735	D	0.032243	0.22400	T	-0.593608	0.00159	T	-0.619762	0.11204	T	0.00438792510085257	0.00047	T	.	.	.	0.03901998	0.05308	0.058205187	0.10716	0.03901998	0.05307	0.058205187	0.10716	-4.199	0.26737	T	.	.	0.183	0.39630	B	.;.	.;.	1.998206	0.25390	16.74	0.90359611567091214	0.19623	0.01159	0.04181	N	AEFDBHCIJ	0.040281	0.05971	N	-1.05091254641253	0.07569	0.3520919	-1.017522591387	0.09400	0.4674583	0.999999990127784	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.93	1.77	0.23848	-0.224000	0.09169	3.445000	0.38408	0.441000	0.21086	0.000000	0.06391	0.990000	0.31317	0.530000	0.29707	0.8561:0.0:0.1439:0.0	5.965	0.18553	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	614.27	33	chr1	17438267	.	A	G	614.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.465;DP=215;ExcessHet=0;FS=1.021;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=0.392;SOR=0.551	GT:AD:DP:GQ:PL	0/1:24,30:54:99:624,0,465	5	0	1	1
chr1	26067352	26067352	G	A	exonic	TRIM63	.	nonsynonymous SNV	TRIM63:NM_032588:exon1:c.C143T:p.A48V	.	437	1083	2	0	0	2	0.000922509	.	.	.	178468	Primary_familial_hypertrophic_cardiomyopathy|TRIM63-related_disorder|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|.|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.557	0.020277507675	0.0014	0.000399361	0.0013	0.0004	0.0010	0	0.0002	0.0018	0.0011	0.0009	0.0013325	206	154602	rs140523053	0.0023	0.0023	0.0023	0.0023	0.0028	0.0022	0.0022	0.0027	0.0027	0.0004	0.0012	7.653e-05	0	0.0002	0.0009	0.0028	0.0014	0.0009	0.0013	0.0013	0.0012	0.0013	0.0021	0.0011	0.0011	0.0019	0.0018	0.0004	0	0.0016	0	0	0	0	0.0021	0.0014	0.0010	0.0	0.91255	D	0.055	0.46862	T	0.998	0.73220	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.175	0.09039	N	2.4	0.15608	T	-3.9	0.72932	D	0.919	0.92200	-0.9396	0.42679	T	0.057	0.23828	T	10	0.29423878	0.46996	T	0.020278	0.42842	T	0.557	0.81774	.	.	0.748536116192	0.74626	0.6174915328106051	0.61681	0.688503199129	0.60440	0.758670628071	0.75732	T	0.344248	0.71279	T	-0.116384	0.33718	T	0.0592072	0.74192	D	0.071366982965435	0.08841	T	0.956054	0.83312	D	0.85715234	0.87870	0.83525866	0.90527	0.85715234	0.87871	0.83525866	0.90528	-11.749	0.83607	D	.	.	0.865	0.80602	P	.	.	5.400007	0.90430	31	0.99928911392718311	0.99279	0.99748	0.99172	D	AEFDBIJ	0.971041	0.99319	D	0.650068620593564	0.76371	6.474459	0.735087393430099	0.85041	8.463268	1.0	0.98316	0.549168	0.22868	0	0.563428	0.19063	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.67	5.67	0.87673	9.994000	0.99266	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.371	0.94478	731	0.54177	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1429	2583.23	38	chr1	26067352	.	G	A	2583.23	.	AC=2;AF=0.143;AN=14;DP=266;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.04;SOR=1.192	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2604,258,0	6	1	0	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	6180.35	20	chr1	26282323	.	A	*	6180.35	.	AC=2;AF=0.167;AN=12;DP=158;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=37.15;SOR=1.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,3:15:67:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:648,496,494:26282320	4	0	2	1
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2483.77	23	chr1	26282334	.	TGGGGCCG	*	2483.77	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.18;DP=171;ExcessHet=0.7136;FS=10.12;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=18.26;ReadPosRankSum=0.472;SOR=1.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,3:15:67:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:648,496,494:26282320	4	0	2	1
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2463.77	24	chr1	26282344	.	ACCGGGACCGGGACTGGG	*	2463.77	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.08;DP=190;ExcessHet=0.7136;FS=9.185;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=16.32;ReadPosRankSum=-0.221;SOR=1.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,3:15:67:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:648,496,494:26282320	4	0	2	1
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	1231.95	21	chr1	26282357	.	CTGGGGCCGGG	*	1231.95	.	AC=7;AF=0.583;AN=12;DP=190;ExcessHet=0;FS=3.622;MLEAC=8;MLEAF=0.667;MQ=60;QD=8.99;SOR=1.052	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,12:15:42:1|1:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:581,42,0:26282320	1	2	3	1
chr1	26344556	26344556	T	C	exonic	CRYBG2	.	nonsynonymous SNV	CRYBG2:NM_001039775:exon2:c.A2102G:p.D701G	.	426	1083	13	0	0	13	0.00596604	.	.	.	3239258	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0030	0.0017	0	0	0	0.0057	0	0.0023	0.0009638	149	154602	rs199647245	0.0035	0.0033	0.0035	0.0034	0.0060	0.0034	0.0034	0.0044	0.0038	0.0006	0.0028	0.0020	0	0.0005	0.0060	0.0040	0.0034	0.0018	0.0030	0.0030	0.0029	0.0031	0.0058	0.0028	0.0027	0.0048	0.0045	0.0007	0	0.0058	0.0017	0	0.0005	0.0034	0.0045	0.0057	0.0021	.	.	.	0.26	0.23029	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.02272	.	.	.	.	.	.	.	0.005120486	0.00111	T	.	.	.	.	.	.	.	0.563948154196	0.56057	0.09080917579449849	0.09013	.	.	0.261729449034	0.05099	T	.	.	.	-0.575919	0.00204	T	-0.598953	0.12899	T	.	.	.	0.424958	0.11391	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.12084	B	.;.;.	.;.;.	-0.246383	0.02861	0.404	0.77606991183132512	0.11946	0.00651	0.02833	N	AEFBI	.	.	.	.	.	.	.	.	.	0.69739734522868	0.22657	0.162113	0.03585	0	0.059962	0.00310	0	0.175069	0.04249	0	0.062806	0.01542	0	0.0755104	0.17533	4.79	-6.05	0.01988	-1.143000	0.03311	-2.148000	0.04142	-0.120000	0.14102	0.000000	0.06391	0.000000	0.08366	0.372000	0.26156	0.0:0.1275:0.1045:0.768	9.985	0.41008	358	0.85037	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007797	0.015789	0.000000	0.000000	0.000000	0.000000	0.013761	0.008772	0.1429	2952.23	36	chr1	26344556	.	T	C	2952.23	.	AC=2;AF=0.143;AN=14;DP=465;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=33.55;SOR=0.836	GT:AD:DP:GQ:PL	1/1:0,88:88:99:2973,264,0	6	1	0	0
chr1	27551847	27551847	C	T	exonic	AHDC1	.	nonsynonymous SNV	AHDC1:NM_001029882:exon6:c.G269A:p.R90H,AHDC1:NM_001371928:exon8:c.G269A:p.R90H	Xia-Gibbs syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2340322	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.123	0.376318604723	.	.	8.639e-06	0	0	0	0	1.579e-05	0	0	6.5e-06	1	154602	rs768575414	2.194e-05	2.394e-05	2.183e-05	2.206e-05	5.041e-05	1.588e-05	1.359e-05	1.831e-05	1.583e-05	0	0	0	5.041e-05	0	0	2.61e-05	0	1.16e-05	2.634e-05	2.627e-05	3.862e-05	1.349e-05	5.889e-05	8.16e-06	5.15e-06	1.974e-05	1.126e-05	0	0	0	0	0	0	0	5.889e-05	0	0	0.0	0.91255	D	0.145	0.33000	T	0.004	0.12183	B	0.0	0.01387	B	.	.	.	.	0.982092	0.24989	N	0	0.06538	N	0.62	0.53302	T	0.0	0.07008	N	0.159	0.16864	-1.0581	0.12235	T	0.067	0.27502	T	9	0.11903581	0.22517	T	0.376319	0.92866	D	0.123	0.34020	0.231	0.15855	0.138757226776	0.13463	0.20415672891440484	0.20332	1.4481646538	0.86087	0.879624307156	0.93910	D	0.011728	0.10420	T	-0.0913729	0.37848	T	-0.348756	0.39346	T	0.459392848042637	0.31143	T	0.70113	0.31087	T	0.122998476	0.28891	0.12514088	0.30156	0.122998476	0.28891	0.12514088	0.30155	-5.002	0.36861	T	.	.	0.121	0.25034	B	.;.;.;.;.	.;.;.;.;.	3.483783	0.48658	22.7	0.99726665043142348	0.82477	0.71730	0.35140	D	AEFBI	0.108072	0.21511	N	-0.336315342768982	0.27778	1.526809	-0.16386320848405	0.32878	1.874941	0.999975559235712	0.50053	0.646311	0.45356	0	0.546412	0.12157	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	3.5	3.5	0.39181	2.225000	0.42597	4.593000	0.43966	0.544000	0.25403	0.033000	0.20612	1.000000	0.68203	0.998000	0.85391	0.0:0.8853:0.0:0.1147	8.377	0.31608	410	0.82135	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2370.63	34	chr1	27551847	.	C	T	2370.63	.	AC=2;AF=0.143;AN=14;DP=269;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.27;SOR=1.339	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2391,243,0	6	1	0	0
chr1	28683635	28683635	T	G	exonic	GMEB1	.	nonsynonymous SNV	GMEB1:NM_001319674:exon2:c.T23G:p.V8G,GMEB1:NM_006582:exon2:c.T23G:p.V8G,GMEB1:NM_024482:exon2:c.T23G:p.V8G	.	433	1070	19	0	0	19	0.00880037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.0464093728242	0.0035	0.00159744	0.0033	0.0015	0.0011	0	0.0008	0.0047	0.0011	0.0034	0.0033247	514	154602	rs150937827	0.0048	0.0048	0.0048	0.0048	0.0116	0.0047	0.0047	0.0094	0.0086	0.0008	0.0018	0.0041	7.632e-05	0.0010	0.0116	0.0054	0.0066	0.0032	0.0034	0.0034	0.0034	0.0035	0.0053	0.0032	0.0031	0.0049	0.0047	0.0008	0.0110	0.0031	0.0069	0.0004	0.0008	0.0136	0.0053	0.0052	0.0043	0.0	0.91255	D	0.001	0.83351	D	0.995	0.67487	D	0.763	0.56556	P	0.000000	0.84330	D	0.000000	0.999608	0.47795	D	2.08	0.57402	M	0.21	0.59983	T	-3.38	0.66780	D	0.693	0.70088	-0.6276	0.63672	T	0.227	0.59208	T	10	0.007672459	0.00174	T	0.046409	0.62442	D	0.469	0.76355	.	.	0.35421846163	0.35036	0.8535117501213848	0.85313	0.699425841073	0.61035	0.69174271822	0.65957	T	0.299017	0.67156	T	-0.0343945	0.46777	T	0.18043	0.82020	D	0.0123958758475786	0.00203	T	0.792821	0.44691	T	0.80626404	0.84309	0.7908531	0.87698	0.80626404	0.84310	0.7908531	0.87699	-4.747	0.33968	T	.	.	0.828	0.78812	P	.;.;.	.;.;.	4.837298	0.78940	27.0	0.99668854406951313	0.78458	0.97085	0.72601	D	AEFDBI	0.761073	0.69890	D	0.498298936187844	0.66989	5.02233	0.564276210496479	0.72397	5.803303	0.99999912600913	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.55	5.55	0.83298	6.982000	0.75948	7.816000	0.69589	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.667	0.68520	457	0.78953	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008569	0.000000	0.013587	0.000000	0.000000	0.000000	0.021341	0.000000	0.1429	1926.23	40	chr1	28683635	.	T	G	1926.23	.	AC=2;AF=0.143;AN=14;DP=254;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.33;SOR=0.949	GT:AD:DP:GQ:PL	1/1:0,68:68:99:1947,204,0	6	1	0	0
chr1	35479104	35479104	C	T	exonic	KIAA0319L	.	nonsynonymous SNV	KIAA0319L:NM_024874:exon4:c.G775A:p.A259T	.	421	1099	2	0	0	2	0.000909091	.	.	.	746449	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00508870956234	.	0.00159744	0.0006	0	0	0	0	0	0.0011	0.0044	0.0005369	83	154602	rs376586052	0.0003	0.0003	0.0002	0.0004	0.0043	0.0002	0.0002	0.0040	0.0038	0	0	0	0	0	0.0002	8.993e-07	0.0003	0.0043	0.0002	0.0002	0.0001	0.0003	0.0064	0.0001	0.0001	0.0047	0.0041	0	0	0	0	0	0	0	0	0	0.0064	0.787	0.03441	T	0.588	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.937420	0.08378	N	0.969776	1	0.08975	N	-0.345	0.03330	N	3.32	0.41058	T	0.26	0.12099	N	0.021	0.00339	-0.9888	0.32903	T	0.024	0.10329	T	10	0.0045935214	0.00096	T	0.005089	0.12908	T	0.015	0.02232	0.121	0.02793	0.251639045875	0.24756	0.14410201879784762	0.14333	0.262950019928	0.28855	0.250341773033	0.03803	T	0.014645	0.12428	T	-0.614797	0.00118	T	-0.65576	0.08555	T	0.00955122509668605	0.00124	T	0.476352	0.15685	T	0.023614781	0.01116	0.04100996	0.04563	0.023614781	0.01116	0.04100996	0.04563	-2.871	0.08857	T	.	.	0.064	0.04002	B	.;.;.;.	.;.;.;.	-0.129654	0.03469	0.645	0.18728187106851796	0.00601	0.00935	0.03619	N	AEFBI	0.031905	0.03505	N	-0.937968959717558	0.09965	0.4739812	-0.987844184255813	0.10058	0.5041932	0.00172798370414775	0.08818	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.37	0.798	0.17803	-0.160000	0.10029	-0.347000	0.09772	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4562:0.0:0.5438	6.108	0.19305	347	0.85595	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1282.63	33	chr1	35479104	.	C	T	1282.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.382;DP=282;ExcessHet=0;FS=0.726;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.05;SOR=0.574	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1293,0,1152	6	0	1	0
chr1	35764667	35764667	C	A	exonic	CLSPN	.	nonsynonymous SNV	CLSPN:NM_001190481:exon3:c.G181T:p.V61F,CLSPN:NM_001330490:exon3:c.G181T:p.V61F,CLSPN:NM_022111:exon3:c.G181T:p.V61F	.	431	1089	2	0	0	2	0.000917431	.	.	.	2371948	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.0087830815466	.	.	0.0002	0	0	0.0001	0	4.632e-05	0	0.0013	0.0001617	25	154602	rs148367321	0.0002	0.0002	0.0002	0.0002	0.0011	0.0002	0.0002	0.0009	0.0009	3.142e-05	0	0	5.069e-05	1.888e-05	0	0.0002	0.0003	0.0011	3.94e-05	3.937e-05	2.57e-05	5.371e-05	0.0006	1.714e-05	1.129e-05	0.0002	8.996e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0006	0.002	0.72154	D	0.12	0.51421	T	0.785	0.44430	P	0.258	0.39350	B	0.057353	0.22488	N	0.459798	0.971642	0.25642	N	2.42	0.70002	M	1.48	0.32958	T	-1.61	0.39119	N	0.251	0.28732	-1.0678	0.09903	T	0.056	0.23450	T	10	0.028873593	0.01016	T	0.008783	0.23172	T	0.018	0.03083	0.248	0.18447	0.0934897674506	0.08844	0.09250382552451873	0.09182	0.118575790678	0.13351	0.334983289242	0.15685	T	0.019693	0.15640	T	-0.451502	0.01107	T	-0.471768	0.25325	T	0.0988848583967573	0.12234	T	0.487551	0.16094	T	0.21532752	0.43962	0.13369219	0.32054	0.21532752	0.43962	0.13369219	0.32053	-5.025	0.39013	T	.	.	0.126	0.27523	B	.;.;.;.	.;.;.;.	1.326192	0.17311	13.09	0.99425898533871593	0.64032	0.76507	0.37528	D	AEFBI	0.083537	0.16925	N	-0.272023749363429	0.30233	1.683833	-0.160429118526701	0.33009	1.883757	0.999788028467876	0.43007	0.706298	0.61202	0	0.662677	0.63036	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	6.03	2.84	0.32241	0.861000	0.27540	0.869000	0.22297	-1.705000	0.00752	0.980000	0.35271	0.719000	0.26340	0.580000	0.30894	0.1273:0.6525:0.2201:0.0	12.396	0.54718	197	0.92378	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	813.44	33	chr1	35764667	.	C	A	813.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.636;DP=239;ExcessHet=0;FS=2.11;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.46;SOR=0.446	GT:AD:DP:GQ:PL	0/1:30,34:64:99:824,0,792	6	0	1	0
chr1	36456246	36456246	G	C	exonic	MRPS15	.	nonsynonymous SNV	MRPS15:NM_031280:exon7:c.C577G:p.P193A	.	431	1084	6	0	1	7	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	.	.	0.0103834	0.0060	0.0002	0.0003	0	0	6.008e-05	0.0022	0.0436	0.0052522	812	154602	rs201522148	0.0028	0.0028	0.0016	0.0040	0.0439	0.0027	0.0027	0.0427	0.0422	0.0001	0.0002	0	0.0002	0	0.0010	7.284e-05	0.0026	0.0439	0.0015	0.0015	0.0008	0.0023	0.0449	0.0014	0.0013	0.0400	0.0381	9.624e-05	0	0.0002	0	0.0004	0	0	8.835e-05	0.0005	0.0449	0.023	0.48186	D	0.029	0.54541	D	0.908	0.50127	P	0.527	0.48453	P	0.000006	0.62929	D	0.146573	0.999996	0.58761	D	2.14	0.59869	M	.	.	.	-5.4	0.85103	D	0.406	0.44666	-0.3091	0.74730	T	0.320	0.68882	T	9	0.004027784	0.00078	T	.	.	.	0.402	0.71558	.	.	0.637113853397	0.63413	0.43436745631338997	0.43353	0.597807685971	0.54967	0.380589306355	0.22339	T	0.388229	0.74896	T	-0.303701	0.08315	T	-0.177605	0.56744	T	0.0898948957610165	0.11206	T	0.713029	0.32487	T	0.22880065	0.45606	0.24839096	0.50388	0.22880065	0.45606	0.24839096	0.50387	-9.134	0.68555	D	.	.	0.200	0.42302	B	.	.	2.808836	0.36971	20.4	0.9930085584776398	0.58613	0.98848	0.87654	D	AEFBI	0.644050	0.62044	D	0.53193251129426	0.68988	5.293776	0.53074201271359	0.70068	5.451288	0.999995593311148	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.17	5.26	0.73479	6.279000	0.72647	1.902000	0.29588	-0.107000	0.15377	1.000000	0.71638	0.979000	0.30280	0.935000	0.47363	0.0:0.0:0.8634:0.1366	15.845	0.78661	126	0.94940	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.026515	0.08333	539.27	33	chr1	36456246	.	G	C	539.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.968;DP=219;ExcessHet=0;FS=1.097;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=1.33;SOR=0.518	GT:AD:DP:GQ:PL	0/1:26,23:49:99:549,0,726	5	0	1	1
chr1	41510704	41510704	C	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon8:c.G6965A:p.R2322Q,HIVEP3:NM_024503:exon9:c.G6968A:p.R2323Q	.	441	1015	63	3	0	69	0.0328728	.	.	.	3210888	HIVEP3-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.034	.	0.0033	0.0117812	0.0356	0.0037	0.0047	0	0.0112	0.0201	0.04	0.0835	0.0068046	1052	154602	rs200138511	0.0077	0.0077	0.0066	0.0088	0.0436	0.0076	0.0075	0.0424	0.0419	0.0010	0.0022	0.0082	8.225e-05	0.0020	0.0284	0.0059	0.0077	0.0436	0.0056	0.0056	0.0049	0.0064	0.0464	0.0053	0.0052	0.0414	0.0395	0.0016	0.0044	0.0052	0.0052	0.0004	0.0011	0.0442	0.0063	0.0038	0.0464	0.416	0.09958	T	0.538	0.09829	T	0.003	0.11197	B	0.001	0.04355	B	0.525819	0.05228	N	1.391920	1	0.08975	N	0	0.06538	N	3.39	0.05710	T	0.64	0.02442	N	0.08	0.05542	-0.9292	0.44256	T	0.009	0.03227	T	10	0.0020682514	0.00029	T	.	.	.	0.034	0.08419	.	.	.	.	0.03731201195281724	0.03678	0.214794834796	0.24017	0.266823649406	0.05730	T	0.046228	0.27362	T	-0.750832	0.00017	T	-0.81916	0.01470	T	0.00646410931088923	0.00072	T	0.60194	0.22516	T	0.027802156	0.02024	0.022926616	0.00310	0.027802156	0.02024	0.022926616	0.00310	-3.947	0.23143	T	.	.	0.069	0.03231	B	.;.;.	.;.;.	0.081924	0.04879	1.465	0.97642700603971289	0.35091	0.08842	0.14710	N	AEFBHI	0.070481	0.13993	N	-1.0625697389421	0.07343	0.3407994	-1.03510641758133	0.09019	0.4464783	0.987168077761876	0.31199	0.615465	0.37627	0	0.633656	0.55848	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.9	0.154	0.14196	0.004000	0.13007	-2.331000	0.03890	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.915000	0.45038	0.1449:0.3654:0.2839:0.2058	1.573	0.02460	455	0.79073	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.013875	0.005319	0.002770	0.005917	0.000000	0.026316	0.028662	0.034091	0.2143	1812.95	22	chr1	41510704	.	C	T	1812.95	.	AC=3;AF=0.214;AN=14;BaseQRankSum=3.6;DP=201;ExcessHet=0;FS=3.655;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=23.24;ReadPosRankSum=-0.333;SOR=1.222	GT:AD:DP:GQ:PL	0/1:20,14:34:99:445,0,543	5	1	1	0
chr1	43387571	43387571	T	C	exonic	MED8	.	nonsynonymous SNV	MED8:NM_052877:exon3:c.A202G:p.T68A,MED8:NM_201542:exon3:c.A202G:p.T68A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.00932019996095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.05031	T	0.134	0.34241	T	0.998	0.73220	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.74	0.45129	L	.	.	.	-1.48	0.36189	N	0.697	0.71232	-0.6666	0.61982	T	0.302	0.67288	T	9	0.5785539	0.65719	D	0.00932	0.24459	T	0.385	0.70194	0.319	0.29741	0.551838628669	0.54841	0.6455052596675898	0.64485	0.835255353543	0.67791	0.776168107986	0.78349	T	0.067247	0.33153	T	0.246625	0.78284	D	0.116483	0.78001	D	0.830420255661011	0.48563	D	0.856214	0.54490	D	0.1317913	0.30707	0.1989864	0.43759	0.1317913	0.30707	0.1989864	0.43758	-3.25	0.13101	T	.	.	0.326	0.54904	B	.;.	.;.	3.618880	0.51202	23.1	0.9902883095220999	0.50742	0.98916	0.88583	D	AEFBI	0.910174	0.86774	D	0.599756197714147	0.73160	5.920928	0.645977514883001	0.78313	6.850909	0.999999999999876	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	7.967000	0.87519	7.876000	0.72232	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.201	0.81895	744	0.52588	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1516.44	35	chr1	43387571	.	T	C	1516.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=332;ExcessHet=0;FS=3.027;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=0.115;SOR=0.841	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1527,0,1558	6	0	1	0
chr1	45509069	45509069	G	A	exonic	MMACHC	.	nonsynonymous SNV	MMACHC:NM_001330540:exon4:c.G532A:p.G178S,MMACHC:NM_015506:exon4:c.G703A:p.G235S	Methylmalonic aciduria and homocystinuria, cblC type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	0.121800147059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.308	0.21880	T	0.739	0.42933	P	0.47	0.46768	P	0.000089	0.51296	D	0.206205	0.986991	0.40519	D	2.855	0.82945	M	-3.66	0.95212	D	-0.77	0.21429	N	0.375	0.52208	0.367	0.88595	D	0.717	0.90283	D	10	0.3572835	0.52447	T	0.122	0.80265	D	0.425	0.73299	0.324	0.30549	0.935716424596	0.93505	0.47131092784190015	0.47050	0.0406659084861	0.04362	0.426593840122	0.28743	T	0.382611	0.74466	T	0.16518	0.70680	D	-0.000507257	0.70303	D	0.922482132911682	0.58265	D	0.815218	0.46991	T	0.19315028	0.41013	0.12929885	0.31092	0.19315028	0.41013	0.12929885	0.31091	-4.3	0.28177	T	0.19503247361642087	0.25717	0.166	0.41016	B	.;.	.;.	3.973080	0.58349	24.0	0.99044445896163591	0.51095	0.89359	0.49776	D	AEFDBHCI	0.451805	0.50562	N	0.153652738246412	0.48984	3.104105	0.178759240937498	0.48685	3.081072	0.999968790626996	0.48965	0.631515	0.41029	0	0.697927	0.68747	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.98	4.06	0.46572	3.461000	0.52800	9.751000	0.81472	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.105000	0.18517	0.1526:0.0:0.8474:0.0	9.236	0.36625	205	0.92010	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4108.25	34	chr1	45509069	.	G	A	4108.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.87;DP=530;ExcessHet=0.3476;FS=0.825;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=-0.854;SOR=0.639	GT:AD:DP:GQ:PL	0/1:87,84:171:99:2063,0,2257	5	0	2	0
chr1	46031409	46031409	G	A	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon24:c.G3011A:p.R1004H,MAST2:NM_001324321:exon24:c.G2549A:p.R850H,MAST2:NM_015112:exon24:c.G3011A:p.R1004H,MAST2:NM_001324320:exon25:c.G3032A:p.R1011H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0151992205262	.	.	2.544e-05	0	0	0	0	4.585e-05	0	0	2.59e-05	4	154602	rs543929859	3.696e-05	3.694e-05	3.405e-05	3.991e-05	0.0002	2.896e-05	2.594e-05	3.345e-05	2.957e-05	5.977e-05	0	0	2.52e-05	0	0.0002	4.319e-05	3.315e-05	0	3.285e-05	3.283e-05	2.569e-05	4.034e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.879e-05	0	0	0.056	0.38185	T	0.093	0.39799	T	0.003	0.11197	B	0.001	0.04355	B	0.264829	0.15242	N	0.692471	0.999878	0.25352	N	0.77	0.19370	N	-0.13	0.64818	T	-0.72	0.20358	N	0.217	0.24260	-0.9265	0.44645	T	0.158	0.49027	T	10	0.06449178	0.08560	T	0.015199	0.35793	T	0.063	0.18251	0.229	0.15556	0.569173210356	0.56582	0.19241628856684928	0.19159	0.235098826708	0.26036	0.327547669411	0.14564	T	0.01074	0.09664	T	-0.349063	0.04786	T	-0.557034	0.16657	T	0.00995015986192231	0.00132	T	0.741926	0.37414	T	0.02243358	0.00906	0.025329934	0.00574	0.02243358	0.00906	0.025329934	0.00574	-5.277	0.39714	T	.	.	0.066	0.03479	B	.;.	.;.	0.716938	0.10859	7.535	0.97896396632691052	0.36710	0.18051	0.20099	N	AEFDBCI	0.083370	0.16889	N	-1.00055890669155	0.08593	0.4034619	-1.06223194273679	0.08454	0.4157331	0.263659095804781	0.18817	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.85	-1.55	0.08105	-0.398000	0.07320	-1.332000	0.05694	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.260000	0.23518	0.5882:0.1584:0.2534:0.0	5.829	0.17826	89	0.96298	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2446.04	35	chr1	46031409	.	G	A	2446.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.83;DP=312;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.702;SOR=0.703	GT:AD:DP:GQ:PL	0/1:32,54:86:99:1257,0,681	5	0	2	0
chr1	46613215	46613215	G	C	exonic	MOB3C	.	nonsynonymous SNV	MOB3C:NM_145279:exon2:c.C107G:p.A36G,MOB3C:NM_201403:exon2:c.C107G:p.A36G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.0139583808919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.01	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.385	0.91502	M	.	.	.	-3.89	0.72820	D	0.774	0.77132	0.264	0.86973	D	0.557	0.83845	D	9	0.6686675	0.70580	D	0.013958	0.33748	T	0.582	0.83193	0.642	0.77903	0.707347941332	0.70479	0.38905998175117595	0.38820	0.572858510513	0.53358	0.764638364315	0.76621	T	0.131582	0.46340	T	0.285581	0.81788	D	0.172441	0.81555	D	0.994002064544445	0.85055	D	0.990601	0.97065	D	0.75960207	0.81429	0.73670983	0.84438	0.75960207	0.81431	0.73670983	0.84440	-7.806	0.59740	D	.	.	0.649	0.77163	P	.;.;.	.;.;.	4.951349	0.81797	27.6	0.99793096647677015	0.87839	0.96467	0.69283	D	AEFDBHCI	0.898988	0.84287	D	0.950088505148483	0.93988	12.421	0.892121511922027	0.95220	13.41926	1.0	0.98316	0.660085	0.49399	0	0.662677	0.63036	0	0.735289	0.94003	0	0.683762	0.67416	0	.	.	5.31	5.31	0.75063	9.951000	0.98966	11.917000	0.99728	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.964	0.89013	173	0.93306	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	297.96	71	chr1	46613215	.	G	C	297.96	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.807;DP=807;ExcessHet=3.1439;FS=124.913;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.38;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,41:158:99:.:.:247,0,1704:.	0	0	4	3
chr1	52361541	52361546	TCCTCC	-	exonic	CC2D1B	.	nonframeshift deletion	CC2D1B:NM_001330585:exon4:c.285_290del:p.E96_E97del,CC2D1B:NM_032449:exon4:c.285_290del:p.E96_E97del	.	395	1107	16	4	0	24	0.0107239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0777	0.00698882	0.0068	0.0008	0.0058	0	0.0011	0.0074	0.0094	0.0146	0.0047641	124	26028	rs530661837	0.0077	0.0077	0.0075	0.0079	0.0137	0.0076	0.0075	0.0124	0.0121	0.0010	0.0064	0.0041	0	0.0011	0.0137	0.0082	0.0078	0.0130	0.0058	0.0058	0.0064	0.0051	0.0128	0.0055	0.0053	0.0102	0.0093	0.0015	0	0.0071	0.0064	0	0.0010	0	0.0089	0.0057	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1504.42	34	chr1	52361540	.	TTCCTCC	T	1504.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.792;DP=265;ExcessHet=0;FS=1.891;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=0.324;SOR=0.467	GT:AD:DP:GQ:PL	0/1:38,39:77:99:1515,0,1478	6	0	1	0
chr1	53940072	53940072	A	G	exonic	HSPB11	.	nonsynonymous SNV	HSPB11:NM_001316935:exon2:c.T11C:p.I4T,HSPB11:NM_001382249:exon2:c.T11C:p.I4T,HSPB11:NM_001382250:exon2:c.T11C:p.I4T,HSPB11:NM_001382253:exon2:c.T11C:p.I4T,HSPB11:NM_001382261:exon2:c.T11C:p.I4T,HSPB11:NM_016126:exon2:c.T11C:p.I4T	.	432	1085	5	0	0	5	0.00229885	.	.	.	3263828	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.001580277501	0.0012	0.000399361	0.0008	0.0006	0	0	0.0003	0.0011	0	0.0004	0.0007115	110	154602	rs200095391	0.0012	0.0013	0.0013	0.0012	0.0015	0.0012	0.0012	0.0014	0.0014	0.0001	0.0005	0	0	0.0002	0.0002	0.0015	0.0011	0.0005	0.0009	0.0009	0.0009	0.0009	0.0018	0.0008	0.0007	0.0015	0.0014	0.0002	0	0.0003	0	0	9.422e-05	0	0.0018	0	0.0002	0.154	0.24661	T	0.412	0.28958	T	0.0	0.02946	B	0.0	0.01387	B	0.408628	0.04578	N	1.338320	0.999857	0.20048	N	-0.895	0.01383	N	.	.	.	-0.42	0.16187	N	0.172	0.18376	-1.0253	0.21985	T	0.045	0.19194	T	9	0.008911669	0.00202	T	0.00158	0.02523	T	0.013	0.01715	.	.	0.143124449307	0.13826	0.13337022409852262	0.13261	0.0715197750357	0.08007	0.386494904757	0.23174	T	0.008626	0.07910	T	-0.63983	0.00083	T	-0.695212	0.06091	T	0.00177072030582214	0.00018	T	0.524448	0.17180	T	0.07821712	0.17800	0.04340756	0.05394	0.07821712	0.17800	0.04340756	0.05393	-4.862	0.35305	T	.	.	0.055	0.00368	B	.;.;.;.	.;.;.;.	0.677079	0.10455	7.174	0.79439799897338259	0.12742	0.06694	0.12714	N	AEFDGBI	0.049539	0.08569	N	-1.04993176685931	0.07589	0.3530396	-0.951339451729112	0.10891	0.5515178	0.999656051964068	0.41424	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.25	1.72	0.23498	0.232000	0.17670	0.988000	0.23172	-0.161000	0.11593	0.001000	0.13787	0.117000	0.22861	0.939000	0.47918	0.7282:0.0:0.2718:0.0	6.754	0.22689	807	0.43470	.;.;.;APC10/DOC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	717.49	32	chr1	53940072	.	A	G	717.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.93;DP=225;ExcessHet=0;FS=2.244;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=0.139;SOR=1.035	GT:AD:DP:GQ:PL	0/1:29,27:56:99:728,0,620	6	0	1	0
chr1	54700343	54700343	G	A	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon16:c.G1541A:p.R514H,MROH7:NM_001039464:exon18:c.G2987A:p.R996H	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0044816654894	0.0015	0.00139776	0.0007	0.0059	0.0008	0	0	0.0002	0.0023	0	0.0006015	93	154602	rs145665162	0.0002	0.0002	0.0002	0.0002	0.0041	0.0002	0.0002	0.0035	0.0033	0.0041	0.0004	0	0	0	0.0017	6.925e-05	0.0005	2.319e-05	0.0015	0.0015	0.0016	0.0014	0.0052	0.0014	0.0013	0.0046	0.0044	0.0052	0	0.0005	0	0	0	0	0.0001	0.0009	0.0002	0.035	0.45039	D	0.006	0.70582	D	0.999	0.77913	D	0.917	0.65306	D	0.303897	0.14550	N	0.610623	0.623011	0.32722	D	2.16	0.60381	M	4.77	0.02032	T	-2.5	0.54382	D	0.512	0.54322	-0.9872	0.33298	T	0.059	0.24797	T	10	0.01233986	0.00266	T	0.004482	0.11000	T	0.193	0.47281	.	.	0.221734844693	0.21761	0.15244645319157907	0.15166	0.3120935974	0.33510	0.533724427223	0.43560	T	0.009426	0.08585	T	-0.465327	0.00910	T	-0.439544	0.28859	T	0.026480839954679	0.01472	T	0.840516	0.51562	T	0.09089579	0.21283	0.08511104	0.19628	0.09089579	0.21282	0.08511104	0.19627	-6.109	0.47182	T	.	.	0.211	0.43909	B	.;.	.;.	4.253005	0.64575	24.7	0.99948469476679902	0.99923	0.47158	0.27920	N	AEFBI	0.165880	0.29241	N	0.525232541553584	0.68586	5.237694	0.460447340503259	0.65389	4.817791	9.78423266194482E-4	0.08079	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.5	4.52	0.54797	1.607000	0.36447	3.890000	0.40289	0.676000	0.76740	0.957000	0.33433	0.769000	0.26685	0.989000	0.64315	0.1058:0.0:0.8942:0.0	8.359	0.31508	802	0.44336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003528	0.005051	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	1773.29	34	chr1	54700343	.	G	A	1773.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.308;DP=306;ExcessHet=0.3476;FS=2.006;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-1.25;SOR=0.512	GT:AD:DP:GQ:PL	0/1:41,46:87:99:1034,0,949	5	0	2	0
chr1	69994621	69994621	A	G	exonic	LRRC7	.	nonsynonymous SNV	LRRC7:NM_001350216:exon11:c.A995G:p.N332S,LRRC7:NM_001366838:exon11:c.A992G:p.N331S,LRRC7:NM_001370785:exon11:c.A992G:p.N331S,LRRC7:NM_001330635:exon12:c.A893G:p.N298S,LRRC7:NM_001366839:exon12:c.A893G:p.N298S,LRRC7:NM_001366841:exon12:c.A893G:p.N298S	.	450	1034	35	3	0	41	0.0194405	.	.	.	3886586	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.125	.	0.0087	0.00698882	0.0068	0.0152	0.0101	0	0.0009	0.0076	0.0144	0.0012	0.0067399	1042	154602	rs72676879	0.0053	0.0054	0.0053	0.0054	0.0790	0.0052	0.0052	0.0730	0.0706	0.0133	0.0112	0.0253	0	0.0010	0.0790	0.0044	0.0114	0.0013	0.0087	0.0087	0.0087	0.0086	0.0139	0.0083	0.0081	0.0130	0.0126	0.0139	0	0.0122	0.0199	0.0002	0.0005	0.1130	0.0058	0.0213	0.0004	0.073	0.36113	T	0.045	0.49390	D	0.367	0.34030	B	0.263	0.39594	B	0.000003	0.62929	D	0.100641	0.999829	0.81001	D	-0.31	0.03598	N	2.03	0.23884	T	-2.15	0.48687	N	0.396	0.43706	-1.0139	0.25688	T	0.021	0.08639	T	10	0.0067400336	0.00153	T	.	.	.	0.125	0.34456	.	.	0.559688537222	0.55629	0.5185816699323756	0.51781	2.17053411201	0.95497	0.640680670738	0.58661	T	0.028058	0.58333	T	-0.624144	0.00104	T	-0.657639	0.08426	T	0.0289290178431819	0.01827	T	0.936906	0.76326	D	0.15675013	0.35358	0.25773692	0.51495	0.15675013	0.35357	0.25773692	0.51494	-6.629	0.51274	T	.	.	0.065	0.01884	B	.;.	.;.	3.026350	0.40527	21.2	0.99803771616151216	0.88817	0.85774	0.44944	D	AEFBHCI	0.900326	0.84573	D	0.0587109992476847	0.44544	2.726515	0.226869211476675	0.51344	3.31772	0.999999973006373	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.662026	0.63922	0	.	.	5.4	5.4	0.77957	8.358000	0.89989	6.174000	0.54533	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	1.0:0.0:0.0:0.0	14.894	0.70271	913	0.21160	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.072077	0.158163	0.082880	0.099415	0.100000	0.068966	0.009146	0.007576	0.07143	895.44	35	chr1	69994621	.	A	G	895.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.615;DP=257;ExcessHet=0;FS=2.04;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.425;SOR=1.075	GT:AD:DP:GQ:PL	0/1:38,35:73:99:906,0,906	6	0	1	0
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	580.22	31	chr1	85158757	.	C	G	580.22	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.575;DP=313;ExcessHet=11.5949;FS=185.984;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=0.994;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,13:55:54:.:.:54,0,468:.	1	0	5	1
chr1	86473447	86473447	C	A	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon2:c.C193A:p.L65I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00992971698464	.	.	8.244e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs2145412	5.499e-06	6.157e-06	4.105e-06	6.905e-06	5.423e-06	2.37e-06	1.71e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.423e-06	3.327e-05	0	6.576e-06	6.566e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.001	0.07471	B	0.016	0.17743	B	0.000002	0.62929	D	0.059611	0.999998	0.08975	P	0	0.06538	N	2.67	0.12473	T	0.0	0.07008	N	0.121	0.11197	-1.0388	0.17678	T	0.012	0.04700	T	9	0.17780328	0.32833	T	0.00993	0.25856	T	0.137	0.36984	0.714	0.84962	0.30212335484	0.29822	0.5148361964369762	0.51406	0.0902555916639	0.10180	0.53259986639	0.43401	T	0.046075	0.27314	T	-0.206906	0.19818	T	-0.534982	0.18792	T	0.41324719786644	0.29439	T	0.868713	0.57175	D	0.19434205	0.41180	0.16100185	0.37472	0.19434205	0.41180	0.16100185	0.37471	-5.436	0.41265	T	.	.	0.089	0.12323	B	.;.	.;.	2.665797	0.34737	19.71	0.98911680532946056	0.48381	0.47859	0.28077	N	AEFBI	0.108291	0.21547	N	-0.326527775749523	0.28144	1.549911	-0.158318572335012	0.33090	1.889193	0.00755488696918852	0.11493	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.56	5.56	0.83678	2.518000	0.45198	6.223000	0.55146	-0.108000	0.15293	0.999000	0.42656	1.000000	0.68203	0.778000	0.36829	0.134:0.072:0.0:0.7941	6.799	0.22927	781	0.47532	Calcium-activated chloride channel, N-terminal;Calcium-activated chloride channel, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	8949.6	44	chr1	86473447	.	C	A	8949.6	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.205;DP=350;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=26.09;ReadPosRankSum=-0.044;SOR=0.68	GT:AD:DP:GQ:PL	1/0:0,38:76:99:1850,914,801	5	0	1	1
chr1	86499854	86499854	C	A	exonic	CLCA1	.	nonsynonymous SNV	CLCA1:NM_001285:exon14:c.C2554A:p.L852M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00747187765073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.11	0.37310	T	1.0	0.90584	D	0.99	0.78936	D	0.002639	0.36208	N	0.185634	1	0.08975	N	3.515	0.92918	H	3.98	0.03297	T	-0.94	0.25118	N	0.363	0.40963	-1.0309	0.20163	T	0.019	0.07800	T	10	0.25041306	0.42367	T	0.007472	0.19819	T	0.094	0.27141	0.535	0.64439	0.536381233585	0.53288	0.39654868406335747	0.39569	0.408995552673	0.41722	0.44312992692	0.31005	T	0.056566	0.30323	T	-0.168517	0.25460	T	-0.47984	0.24464	T	0.951861381530762	0.63658	D	0.60344	0.22635	T	0.15509796	0.35070	0.11052708	0.26652	0.15509796	0.35070	0.11052708	0.26651	-8.282	0.62975	D	.	.	0.124	0.26138	B	.;.	.;.	3.489487	0.48768	22.7	0.99539975284751558	0.70461	0.14153	0.18251	N	AEFBHCI	0.122472	0.23763	N	0.179827169834364	0.50230	3.215141	0.0177155044843654	0.40537	2.420877	0.826810633989645	0.24621	0.525926	0.21836	0	0.615948	0.52940	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.59	3.73	0.41982	0.503000	0.22318	0.644000	0.20348	0.599000	0.40250	0.162000	0.23825	0.110000	0.22784	0.956000	0.50813	0.1442:0.7034:0.0:0.1523	6.506	0.21391	751	0.51694	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2503.63	40	chr1	86499854	.	C	A	2503.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.238;DP=402;ExcessHet=0;FS=0.51;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.485;SOR=0.746	GT:AD:DP:GQ:PL	0/1:99,106:205:99:2514,0,2342	6	0	1	0
chr1	89191383	89191383	T	C	exonic	GBP4	.	nonsynonymous SNV	GBP4:NM_052941:exon6:c.A794G:p.D265G	.	426	1081	15	0	0	15	0.00689022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.0432146992987	0.0003	0.000399361	0.0006	0.0002	8.637e-05	0	0	0.0005	0	0.0021	0.0004981	77	154602	rs201411513	0.0002	0.0002	0.0002	0.0003	0.0025	0.0002	0.0002	0.0023	0.0021	2.987e-05	0	0.0023	0	0	0.0007	4.406e-05	0.0003	0.0025	0.0001	0.0001	6.424e-05	0.0002	0.0029	9.736e-05	8.252e-05	0.0018	0.0014	0	0	0	0.0023	0	0	0	0	0	0.0029	0.011	0.55530	D	0.001	0.83351	D	0.02	0.18235	B	0.022	0.19653	B	0.291093	0.14767	N	0.663946	1	0.08975	N	2.205	0.62170	M	-1.12	0.77593	T	-3.51	0.68298	D	0.401	0.44187	-0.6891	0.60950	T	0.234	0.60099	T	10	0.017451495	0.00373	T	0.043215	0.60869	D	0.283	0.60100	.	.	0.814452550499	0.81271	0.5009065058856161	0.50012	0.162938723387	0.18388	0.349341213703	0.17825	T	0.34834	0.71634	T	-0.403078	0.02210	T	-0.357318	0.38363	T	0.0709536894361799	0.08784	T	0.336266	0.07184	T	0.23761347	0.46627	0.20071071	0.44015	0.23761347	0.46627	0.20071071	0.44014	-4.947	0.36259	T	.	.	0.075	0.05711	B	.	.	3.002746	0.40130	21.1	0.97972601104124046	0.37261	0.84173	0.43256	D	AEFHCI	0.376549	0.46065	N	-0.348469870573523	0.27328	1.498502	-0.337186150245	0.26909	1.489528	0.924106724571239	0.26767	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	4.14	0.47821	5.781000	0.68615	2.886000	0.35360	0.650000	0.52971	0.994000	0.38300	0.268000	0.24029	0.001000	0.02609	0.1517:0.0:0.0:0.8483	9.980	0.40980	480	0.77422	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.07143	2126.45	35	chr1	89191383	.	T	C	2126.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.03;DP=387;ExcessHet=0;FS=6.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.23;SOR=0.82	GT:AD:DP:GQ:PL	0/1:105,87:192:99:2137,0,2548	6	0	1	0
chr1	94857391	94857391	C	T	exonic	SLC44A3	.	nonsynonymous SNV	SLC44A3:NM_001258342:exon9:c.C1021T:p.R341W,SLC44A3:NM_001258343:exon9:c.C925T:p.R309W,SLC44A3:NM_001301079:exon9:c.C889T:p.R297W,SLC44A3:NM_001350223:exon9:c.C838T:p.R280W,SLC44A3:NM_152369:exon9:c.C985T:p.R329W,SLC44A3:NM_001114106:exon10:c.C1129T:p.R377W,SLC44A3:NM_001258340:exon10:c.C1129T:p.R377W,SLC44A3:NM_001258341:exon10:c.C1033T:p.R345W	.	427	1092	3	0	0	3	0.00137174	.	.	.	2335109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.281	0.0260845265698	.	0.000199681	8.243e-05	0	0.0006	0	0	1.5e-05	0	0.0001	7.12e-05	11	154602	rs142721068	6.432e-05	6.43e-05	6.127e-05	6.74e-05	0.0005	5.363e-05	4.978e-05	0.0003	0.0003	0	0.0005	0	0	0	0	5.486e-05	3.312e-05	0.0001	5.253e-05	5.249e-05	5.139e-05	5.372e-05	0.0001	2.556e-05	1.829e-05	2.846e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.349e-05	0.0005	0	0.003	0.68238	D	0.01	0.66756	D	0.928	0.90584	P	0.631	0.72444	P	0.029176	0.25493	N	0.289069	0.999879	0.50225	D	2.255	0.64187	M	1.93	0.22881	T	-4.5	0.78135	D	0.69	0.69562	-1.0231	0.22704	T	0.114	0.40605	T	10	0.4808336	0.60420	T	0.026085	0.49023	D	0.281	0.59861	.	.	0.382925413656	0.37900	0.3919339828726339	0.39108	0.601515710117	0.55188	0.287037789822	0.08493	T	0.064336	0.32408	T	-0.298199	0.08829	T	-0.307537	0.43924	T	0.688658177852631	0.40186	D	0.943406	0.78638	D	0.5347732	0.69102	0.4752286	0.69590	0.5347732	0.69103	0.4752286	0.69590	-6.405	0.49782	T	.	.	0.095	0.16187	B	.;.;.;.;.;.	.;.;.;.;.;.	4.656088	0.74273	26.1	0.99921024608541942	0.98721	0.96082	0.67451	D	AEFBI	0.863371	0.78189	D	0.604937583160892	0.73485	5.974019	0.538926801532796	0.70631	5.533605	0.999999999588032	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.584449	0.35598	0	.	.	4.8	4.8	0.61157	4.561000	0.60519	3.230000	0.36903	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:0.9088:0.0:0.0912	11.941	0.52186	660	0.61921	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	592.27	34	chr1	94857391	.	C	T	592.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.5;DP=232;ExcessHet=0;FS=2.09;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-1.523;SOR=1.022	GT:AD:DP:GQ:PL	0/1:40,26:66:99:602,0,913	5	0	1	1
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	287.47	26	chr1	99884400	.	T	C	287.47	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.099;DP=282;ExcessHet=0;FS=96.765;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.83;ReadPosRankSum=1.19;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,18:75:99:0|1:99884398_T_C:298,0,2057:99884398	6	0	1	0
chr1	110949885	110949885	G	C	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_001006945:exon2:c.C227G:p.T76R,LRIF1:NM_018372:exon3:c.C1835G:p.T612R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.0209892720318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.447	0.36101	T	0.078	0.37927	B	0.118	0.41660	B	0.325441	0.14201	N	0.673920	1	0.08975	N	2.08	0.57402	M	1.91	0.31470	T	-1.22	0.41618	N	0.194	0.29081	-1.0451	0.15796	T	0.034	0.14813	T	10	0.08899155	0.15375	T	0.020989	0.43686	T	0.042	0.11227	0.147	0.05039	0.510758216515	0.50715	0.18596798790837074	0.18514	0.392744924576	0.40454	0.373809695244	0.21377	T	0.047302	0.27682	T	-0.186225	0.22814	T	-0.505276	0.21801	T	0.296376117410699	0.24854	T	0.735226	0.35154	T	0.07448203	0.16716	0.09102388	0.21379	0.07448203	0.16716	0.09102388	0.21379	-4.48	0.30626	T	0.21689145730599693	0.29182	0.106	0.24934	B	.;.;.	.;.;.	2.084065	0.26508	17.14	0.97828875922411263	0.36246	0.29413	0.23815	N	AEFGBI	0.119995	0.23396	N	-0.387048147501053	0.25930	1.411299	-0.408242646252422	0.24755	1.357	0.177658675517435	0.17826	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.69	3.77	0.42499	2.389000	0.44060	6.609000	0.56081	0.656000	0.54149	0.073000	0.22155	0.999000	0.35428	0.980000	0.58198	0.086:0.0:0.7477:0.1664	7.287	0.25520	625	0.65529	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1316.44	33	chr1	110949885	.	G	C	1316.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.298;DP=305;ExcessHet=0;FS=4.66;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.917;SOR=0.389	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1327,0,1788	6	0	1	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	365.04	53	chr1	112913901	.	C	G	365.04	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.662;DP=436;ExcessHet=1.383;FS=118.285;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=1.47;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,16:101:22:0|1:112913896_C_T:22,0,3303:112913896	3	0	3	1
chr1	113590585	113590585	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G865C:p.D289H,MAGI3:NM_152900:exon5:c.G865C:p.D289H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0204542414694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0063	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0	0.0001	2.554e-05	1.873e-05	0.0002	0.0003	0.0002	9.501e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.72154	D	0.016	0.64786	D	0.682	0.73220	P	0.771	0.64423	P	0.000000	0.84330	D	0.090924	0.999997	0.58761	D	2.25	0.63811	M	2.45	0.16640	T	-2.31	0.51319	N	0.323	0.38746	-1.1300	0.01782	T	0.055	0.23110	T	10	0.28733623	0.46316	T	0.020454	0.43047	T	0.206	0.49396	0.246	0.18139	0.110392049598	0.10638	0.5781545728661651	0.57744	0.684559319626	0.60227	0.599302053452	0.52805	T	0.432916	0.78052	T	-0.107333	0.35209	T	-0.391953	0.34322	T	0.965076804161072	0.67154	D	0.90371	0.66210	D	0.4653931	0.65007	0.40592608	0.64980	0.4653931	0.65008	0.40592608	0.64980	-10.751	0.83431	D	.	.	0.556	0.67064	A	.;.;.;.	.;.;.;.	4.085831	0.60819	24.3	0.99181362579056509	0.54701	0.99025	0.90130	D	AEFDI	0.863854	0.78249	D	0.432571078238433	0.63221	4.551813	0.37549369735247	0.60058	4.189281	0.788624192413497	0.23975	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.04	0.46262	6.343000	0.72935	9.883000	0.82214	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1354:0.0:0.8646:0.0	12.408	0.54785	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1267.28	37	chr1	113590585	.	G	C	1267.28	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-3.549;DP=415;ExcessHet=1.1394;FS=333.805;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=2.06;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,15:109:99:.:.:307,0,3287:.	4	0	1	2
chr1	113590588	113590588	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G868A:p.E290K,MAGI3:NM_152900:exon5:c.G868A:p.E290K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.00846044021037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.40319	T	0.293	0.43721	T	0.982	0.60036	D	0.918	0.65394	D	0.000007	0.62929	N	0.142947	0.999997	0.58761	D	2.51	0.73131	M	2.51	0.16794	T	-2.65	0.56787	D	0.433	0.47208	-1.0942	0.04869	T	0.064	0.26597	T	10	0.22067726	0.38771	T	0.00846	0.22382	T	0.413	0.72404	0.48	0.55983	0.244449712813	0.24043	0.47696213348357347	0.47616	0.638098247504	0.57551	0.653341531754	0.60460	T	0.133462	0.46416	T	0.0773476	0.61730	D	-0.126672	0.61251	T	0.983229577541351	0.74971	D	0.952605	0.81930	D	0.3622676	0.58009	0.24027264	0.49397	0.3622676	0.58009	0.24027264	0.49396	-10.586	0.77340	D	.	.	0.310	0.53747	B	.;.;.;.	.;.;.;.	4.747328	0.76619	26.5	0.99690218298802658	0.79909	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.382962876515898	0.60497	4.239429	0.358229968975361	0.59003	4.074818	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1264.88	35	chr1	113590588	.	G	A	1264.88	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.679;DP=424;ExcessHet=1.1394;FS=333.935;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=2.07;SOR=8.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,15:107:99:.:.:312,0,3273:.	2	0	3	2
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D,MAGI3:NM_152900:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	1784.33	27	chr1	113590590	.	G	C	1784.33	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.12;DP=426;ExcessHet=3.1439;FS=635.154;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=5.83;ReadPosRankSum=1.19;SOR=9.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,27:98:99:.:.:562,0,2751:.	1	0	4	2
chr1	113590597	113590597	G	A	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G877A:p.E293K,MAGI3:NM_152900:exon5:c.G877A:p.E293K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.00424447028335	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.44358	T	0.033	0.53072	D	0.936	0.55554	P	0.81	0.58608	P	0.000001	0.84330	D	0.098174	0.999979	0.53665	D	1.225	0.30651	L	2.54	0.15843	T	-0.98	0.25986	N	0.582	0.63713	-1.0871	0.06030	T	0.041	0.17615	T	10	0.34597075	0.51560	T	0.004244	0.10247	T	0.344	0.66582	0.499	0.58991	0.0934897674506	0.08844	0.7044464026243406	0.70386	0.614339336528	0.55958	0.594983875751	0.52196	T	0.117834	0.43822	T	-0.074423	0.40618	T	-0.34468	0.39814	T	0.936187207698822	0.60499	D	0.942906	0.81072	D	0.28822857	0.51827	0.23320168	0.48503	0.28822857	0.51827	0.23320168	0.48502	-14.977	0.95798	D	.	.	0.708	0.73276	P	.;.;.;.	.;.;.;.	4.472077	0.69692	25.4	0.9981885909623377	0.90150	0.99231	0.93164	D	AEFDI	0.898106	0.84102	D	0.2454207515239	0.53412	3.510231	0.265188684991688	0.53517	3.520339	0.999345317012579	0.39222	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	4.98	0.65679	9.560000	0.97249	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8675:0.1325	16.441	0.83741	538	0.73119	.;WW domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	960.06	35	chr1	113590597	.	G	A	960.06	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.176;DP=426;ExcessHet=1.1394;FS=288.527;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.1;ReadPosRankSum=1.67;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,15:109:42:0|1:113590593_T_C:42,0,3416:113590593	4	0	3	0
chr1	114139664	114139664	G	A	exonic	SYT6	.	nonsynonymous SNV	SYT6:NM_001253772:exon2:c.C463T:p.R155C,SYT6:NM_001270805:exon2:c.C208T:p.R70C,SYT6:NM_001366223:exon2:c.C208T:p.R70C,SYT6:NM_001366224:exon2:c.C463T:p.R155C,SYT6:NM_001366225:exon2:c.C463T:p.R155C,SYT6:NM_001366226:exon2:c.C208T:p.R70C,SYT6:NM_205848:exon2:c.C208T:p.R70C	.	434	1053	34	1	0	36	0.0168067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0008	0.00359425	0.0038	0	0.0025	0.0008	0	0.0014	0.0055	0.0202	0.0033441	517	154602	rs144510124	0.0022	0.0022	0.0016	0.0028	0.0210	0.0021	0.0021	0.0202	0.0198	0.0002	0.0016	0.0011	0.0001	7.488e-05	0.0087	0.0010	0.0024	0.0210	0.0014	0.0014	0.0012	0.0017	0.0191	0.0013	0.0012	0.0160	0.0148	0.0002	0	0.0013	0.0017	0.0002	0	0.0034	0.0012	0.0043	0.0191	0.029	0.45756	D	0.048	0.79402	D	0.998	0.73220	D	0.786	0.57542	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.44	0.70756	M	0.27	0.59176	T	-2.81	0.59389	D	0.674	0.70615	-0.5722	0.65927	T	0.243	0.61166	T	10	0.0058371425	0.00130	T	.	.	.	0.315	0.63694	.	.	0.863481631396	0.86215	0.6045719063240254	0.60388	0.585778978891	0.54207	0.660595178604	0.61495	T	0.055268	0.29957	T	-0.0418585	0.45672	T	0.182692	0.82151	D	0.0655522304578806	0.08013	T	0.978302	0.92553	D	0.3139685	0.54127	0.169706	0.39025	0.3139685	0.54127	0.169706	0.39024	-7.384	0.65962	T	.	.	0.167	0.67128	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.202704	0.87283	29.2	0.99915425814779713	0.98379	0.91563	0.53791	D	AEFDBCI	0.824681	0.74453	D	0.661367253560518	0.77107	6.61134	0.66266922490195	0.79555	7.107713	0.99999152714281	0.74766	0.719381	0.83141	0	0.59043	0.45803	0	0.723133	0.82415	0	0.542086	0.14980	0	.	.	5.49	5.49	0.81022	3.918000	0.56144	11.927000	0.99878	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.8574:0.1426	15.046	0.71491	205	0.92010	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.000000	0.003049	0.015152	0.07143	702.45	33	chr1	114139664	.	G	A	702.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.493;DP=252;ExcessHet=0;FS=0.855;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-1.179;SOR=0.818	GT:AD:DP:GQ:PL	0/1:46,32:78:99:713,0,1051	6	0	1	0
chr1	114625318	114625318	A	G	exonic	DENND2C	.	nonsynonymous SNV	DENND2C:NM_198459:exon2:c.T667C:p.S223P,DENND2C:NM_001256404:exon4:c.T667C:p.S223P	.	428	1012	81	1	0	83	0.0393925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0069	0.0127796	0.0083	0.0164	0.0035	0.0003	0.0009	0.0033	0.0121	0.0336	0.0076325	1180	154602	rs61481107	0.0050	0.0050	0.0041	0.0058	0.0322	0.0049	0.0048	0.0312	0.0308	0.0174	0.0040	0.0058	0.0004	0.0008	0.0192	0.0027	0.0065	0.0322	0.0074	0.0074	0.0066	0.0082	0.0267	0.0071	0.0069	0.0230	0.0216	0.0157	0	0.0059	0.0035	0.0004	0.0008	0.0068	0.0032	0.0090	0.0267	0.041	0.41915	D	0.27	0.22359	T	0.71	0.50838	P	0.43	0.46123	B	0.946909	0.08314	N	0.974000	1	0.08975	N	1.23	0.30720	L	3.7	0.08547	T	-0.11	0.09627	N	0.298	0.33687	-0.9632	0.38567	T	0.009	0.03183	T	10	0.0032031536	0.00054	T	.	.	.	0.054	0.15330	.	.	0.43965937752	0.43585	0.3305454103579607	0.32967	0.219717392512	0.24512	0.45200419426	0.32217	T	0.001868	0.01280	T	-0.522665	0.00424	T	-0.499174	0.22434	T	0.0252535699938177	0.01306	T	0.692631	0.30204	T	0.08959558	0.20938	0.11387794	0.27486	0.08959558	0.20938	0.11387794	0.27485	-1.336	0.03392	T	.	.	0.151	0.33296	B	.;.;.	.;.;.	2.615992	0.33986	19.50	0.98189797006152302	0.39018	0.41650	0.26704	N	AEFI	0.132841	0.25230	N	0.0123055205367606	0.42415	2.555	0.00698991770262013	0.40038	2.383225	0.00520476885531698	0.10862	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.2	1.08	0.19456	1.001000	0.29384	4.435000	0.43365	0.691000	0.84096	0.969000	0.34210	1.000000	0.68203	0.591000	0.31164	0.5201:0.114:0.0888:0.2771	1.844	0.02964	728	0.54609	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.005051	0.016304	0.023392	0.000000	0.017241	0.036585	0.041667	0.1429	2449.24	33	chr1	114625318	.	A	G	2449.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.1;DP=385;ExcessHet=0.3476;FS=2.235;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=2.31;SOR=0.542	GT:AD:DP:GQ:PL	0/1:62,56:118:99:1442,0,1601	5	0	2	0
chr1	114677399	114677399	C	T	exonic	AMPD1	.	nonsynonymous SNV	AMPD1:NM_001172626:exon9:c.G1427A:p.R476H,AMPD1:NM_000036:exon10:c.G1340A:p.R447H	Myopathy due to myoadenylate deaminase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.0971491806995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273170766	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.987e-05	2.35e-06	1.7e-06	3.85e-06	1.44e-06	2.987e-05	2.236e-05	0	0	0	0	3.597e-06	0	2.319e-05	6.715e-06	6.58e-06	0	1.38e-05	6.765e-05	0	0	.	.	0	0	6.765e-05	0	0	0	0	0	0	0	0.022	0.48642	D	0.039	0.54159	D	.	.	.	.	.	.	0.000000	0.84330	D	0.088776	0.999926	0.51308	D	1.185	0.30054	L	-1.75	0.83495	D	-1.9	0.44284	N	0.378	0.41952	0.033	0.82914	D	0.495	0.80873	T	10	0.45506963	0.58938	T	0.097149	0.76724	D	0.397	0.71163	.	.	0.929092460382	0.92836	0.8024237461328525	0.80196	0.127740691403	0.14408	0.395071923733	0.24381	T	0.664465	0.89969	D	-0.0555236	0.43605	T	-0.234667	0.51317	T	0.912144303321838	0.56794	D	0.768523	0.39806	T	0.106768556	0.25247	0.097097024	0.23096	0.106768556	0.25247	0.097097024	0.23096	-4.304	0.28316	T	0.27063402388320684	0.36414	0.086	0.12132	B	.;.	.;.	3.404123	0.47195	22.4	0.99940741288163693	0.99797	0.90197	0.51185	D	AEFBI	0.472835	0.51778	N	0.320366040679015	0.57193	3.885949	0.290980423330624	0.55010	3.664751	0.527213356379127	0.21146	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.85	4.95	0.64894	1.830000	0.38770	0.263000	0.16568	0.599000	0.40250	0.794000	0.29644	0.010000	0.20010	0.762000	0.36218	0.0:0.8609:0.0:0.1391	11.301	0.48538	821	0.40814	Adenosine/AMP deaminase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1113.63	34	chr1	114677399	.	C	T	1113.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.758;DP=256;ExcessHet=0;FS=1.771;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=0.781;SOR=0.705	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1124,0,903	6	0	1	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1393.41	90	chr1	114732648	.	C	G	1393.41	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.763;DP=766;ExcessHet=4.7409;FS=287.227;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.54;SOR=11.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,41:128:99:.:.:337,0,933:.	2	0	5	0
chr1	116614170	116614170	G	C	exonic	IGSF3	.	nonsynonymous SNV	IGSF3:NM_001007237:exon4:c.C427G:p.P143A,IGSF3:NM_001542:exon4:c.C427G:p.P143A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	.	.	0.00379393	0.0018	0	8.703e-05	0.0001	0	0	0	0.0128	0.0015006	232	154602	rs372542197	0.0006	0.0006	0.0004	0.0008	0.0098	0.0006	0.0006	0.0093	0.0090	8.991e-05	0	0	5.055e-05	0	0	3.611e-06	0.0007	0.0098	0.0003	0.0003	0.0002	0.0005	0.0106	0.0003	0.0002	0.0083	0.0074	0	0	0	0	0	0	0	0	0	0.0106	0.116	0.28395	T	0.478	0.12491	T	0.986	0.61523	D	0.9	0.63913	P	0.000001	0.62929	D	0.059305	0.99999	0.58761	D	1.46	0.36832	L	3.76	0.03892	T	-5.62	0.86758	D	0.25	0.30574	-1.0588	0.12058	T	0.021	0.09056	T	10	0.009071648	0.00205	T	.	.	.	0.239	0.54358	0.368	0.37687	0.352477664867	0.34857	0.547030175889436	0.54629	1.348062469	0.84020	0.440452218056	0.30638	T	0.268884	0.64104	T	-0.552092	0.00283	T	-0.556423	0.16714	T	0.174338019675252	0.18871	T	0.805419	0.45334	T	0.3576347	0.57655	0.41813827	0.65846	0.3444815	0.56634	0.33704388	0.59498	-8.618	0.65424	D	.	.	0.088	0.16319	B	.;.;.	.;.;.	3.718070	0.53115	23.3	0.98206151113706341	0.39167	0.93816	0.59273	D	AEFDBI	0.515452	0.54240	D	0.634878993814392	0.75392	6.297982	0.643186806162706	0.78103	6.809661	0.999996076868944	0.74766	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.02	5.02	0.66742	4.981000	0.63540	8.578000	0.77634	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	15.870	0.78889	652	0.62785	.;Immunoglobulin-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	219.53	15	chr1	116614170	.	G	C	219.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.694;DP=181;ExcessHet=0;FS=2.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=-1.641;SOR=0.193	GT:AD:DP:GQ:PL	0/1:14,10:24:99:230,0,431	6	0	1	0
chr1	121177294	121177294	C	T	exonic	FAM72B	.	nonsynonymous SNV	FAM72B:NM_001100910:exon3:c.G269A:p.S90N,FAM72B:NM_001320149:exon3:c.G149A:p.S50N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0103264092017	.	.	.	.	.	.	.	.	.	.	.	.	.	rs79611030	0.0004	0.0004	0.0005	0.0004	0.0142	0.0004	0.0004	0.0131	0.0127	0.0142	0.0010	0	0	0	0.0012	1.259e-05	0.0013	0.0001	0.0041	0.0042	0.0043	0.0040	0.0143	0.0039	0.0038	0.0133	0.0130	0.0143	0	0.0018	0	0	0	0	2.94e-05	0.0028	0.0002	0.258	0.16683	T	0.47	0.12740	T	.	.	.	.	.	.	.	.	.	.	0.996827	0.22889	N	.	.	.	1.54	0.30133	T	-1.17	0.29933	N	0.298	0.35408	-1.0000	0.29917	T	0.019	0.08126	T	9	0.015550405	0.00326	T	0.005973	0.15579	T	.	.	0.313	0.28774	0.0482279557977	0.04254	0.17474805135042482	0.17393	.	.	0.358421742916	0.19156	T	0.008802	0.08052	T	-0.279455	0.10726	T	-0.639194	0.09727	T	0.221975878508017	0.21562	T	0.716728	0.35462	T	0.08351049	0.19289	0.08373792	0.19212	0.08351049	0.19289	0.08373792	0.19212	-4.204	0.26809	T	.	.	0.068	0.13503	B	.;.;.;.	.;.;.;.	1.876901	0.23844	16.17	0.84875182636939805	0.15550	0.55184	0.29801	D	AEFI	0.221560	0.34618	N	-0.545882316672471	0.20613	1.087907	-0.408243798328286	0.24755	1.357398	1.863547980584E-5	0.02871	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	4.57	2.33	0.27981	3.081000	0.49818	1.468000	0.26732	0.284000	0.18682	1.000000	0.71638	0.998000	0.33993	0.956000	0.50813	0.0:0.461:0.2806:0.2584	2.743	0.04936	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1607.44	33	chr1	121177294	.	C	T	1607.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.686;DP=340;ExcessHet=0;FS=2.772;MLEAC=1;MLEAF=0.071;MQ=43.18;MQRankSum=-5.378;QD=9.92;ReadPosRankSum=0.302;SOR=0.96	GT:AD:DP:GQ:PL	0/1:80,82:162:99:1618,0,1651	6	0	1	0
chr1	144436988	144436988	C	A	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon5:c.G400T:p.D134Y,NBPF15:NM_001385448:exon5:c.G400T:p.D134Y,NBPF15:NM_001385405:exon6:c.G400T:p.D134Y,NBPF15:NM_001385447:exon6:c.G400T:p.D134Y,NBPF15:NM_001385410:exon7:c.G400T:p.D134Y,NBPF15:NM_001385413:exon7:c.G400T:p.D134Y,NBPF15:NM_001385416:exon7:c.G400T:p.D134Y,NBPF15:NM_001385432:exon7:c.G400T:p.D134Y,NBPF15:NM_001385438:exon7:c.G400T:p.D134Y,NBPF15:NM_001385446:exon7:c.G400T:p.D134Y,NBPF15:NM_001385407:exon8:c.G400T:p.D134Y,NBPF15:NM_001385418:exon8:c.G400T:p.D134Y,NBPF15:NM_001385424:exon8:c.G400T:p.D134Y,NBPF15:NM_001385427:exon8:c.G400T:p.D134Y,NBPF15:NM_001385439:exon8:c.G400T:p.D134Y,NBPF15:NM_001385440:exon8:c.G400T:p.D134Y,NBPF15:NM_001385443:exon8:c.G400T:p.D134Y,NBPF15:NM_001385445:exon8:c.G400T:p.D134Y,NBPF15:NM_001385376:exon9:c.G400T:p.D134Y,NBPF15:NM_001385377:exon9:c.G400T:p.D134Y,NBPF15:NM_001385403:exon9:c.G400T:p.D134Y,NBPF15:NM_001385404:exon9:c.G400T:p.D134Y,NBPF15:NM_001385409:exon9:c.G400T:p.D134Y,NBPF15:NM_001385411:exon9:c.G400T:p.D134Y,NBPF15:NM_001385414:exon9:c.G400T:p.D134Y,NBPF15:NM_001385441:exon9:c.G400T:p.D134Y,NBPF15:NM_173638:exon9:c.G400T:p.D134Y,NBPF15:NM_001385373:exon10:c.G400T:p.D134Y,NBPF15:NM_001385374:exon10:c.G400T:p.D134Y,NBPF15:NM_001385375:exon10:c.G400T:p.D134Y,NBPF15:NM_001385408:exon10:c.G400T:p.D134Y,NBPF15:NM_001385412:exon10:c.G400T:p.D134Y,NBPF15:NM_001385415:exon10:c.G400T:p.D134Y,NBPF15:NM_001385420:exon10:c.G400T:p.D134Y,NBPF15:NM_001385423:exon10:c.G400T:p.D134Y,NBPF15:NM_001385430:exon10:c.G400T:p.D134Y,NBPF15:NM_001385431:exon10:c.G400T:p.D134Y,NBPF15:NM_001385433:exon10:c.G400T:p.D134Y,NBPF15:NM_001385434:exon10:c.G400T:p.D134Y,NBPF15:NM_001385436:exon10:c.G400T:p.D134Y,NBPF15:NM_001385442:exon10:c.G400T:p.D134Y,NBPF15:NM_001385444:exon10:c.G400T:p.D134Y,NBPF15:NM_001385378:exon11:c.G400T:p.D134Y,NBPF15:NM_001385406:exon11:c.G400T:p.D134Y,NBPF15:NM_001385419:exon11:c.G400T:p.D134Y,NBPF15:NM_001385421:exon11:c.G400T:p.D134Y,NBPF15:NM_001385422:exon11:c.G400T:p.D134Y,NBPF15:NM_001385425:exon11:c.G400T:p.D134Y,NBPF15:NM_001385428:exon11:c.G400T:p.D134Y,NBPF15:NM_001385429:exon11:c.G400T:p.D134Y,NBPF15:NM_001385435:exon11:c.G400T:p.D134Y,NBPF15:NM_001385437:exon11:c.G400T:p.D134Y,NBPF15:NM_001170755:exon12:c.G400T:p.D134Y,NBPF15:NM_001385426:exon12:c.G400T:p.D134Y	.	421	1019	82	0	0	82	0.0386792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00173396275964	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380003639	6.67e-05	0.0008	3.836e-05	9.469e-05	0.0002	5.505e-05	5.067e-05	5.739e-05	5.275e-05	6.954e-05	2.266e-05	0	7.861e-05	9.577e-05	0.0002	7.186e-05	1.878e-05	4.901e-05	8.14e-05	0.0010	7.933e-05	8.359e-05	0.0004	4.632e-05	3.619e-05	7.758e-05	3.166e-05	0.0001	0	6.769e-05	0	0	0	0	7.498e-05	0	0.0004	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.05	0.03092	T	.	.	.	0.247	0.27910	.	.	.	.	.	.	.	0.16393486	0.30683	T	.	.	.	.	.	.	.	.	.	0.03106088496578435	0.03055	.	.	.	.	.	0.233658	0.60051	T	.	.	.	.	.	.	.	.	.	0.712529	0.32403	T	.	.	.	.	.	.	.	.	-10.07	0.74330	D	.	.	0.173	0.40618	B	.;.;.	.;.;.	0.956282	0.13325	9.829	.	.	.	.	.	.	0.027387	0.02229	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.053000	0.11802	-20.000000	0.00162	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	59.24	34	chr1	144436988	.	C	A	59.24	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.97;DP=506;ExcessHet=0;FS=29.026;MLEAC=1;MLEAF=0.083;MQ=37.26;MQRankSum=-4.608;QD=0.42;ReadPosRankSum=-2.15;SOR=3.952	GT:AD:DP:GQ:PL	0/1:125,17:142:69:69,0,3233	5	0	1	1
chr1	146083817	146083817	A	C	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon68:c.T8534G:p.L2845R,NBPF10:NM_001302371:exon68:c.T8534G:p.L2845R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000230756643374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.245e-05	2.862e-05	0	2.619e-05	3.268e-05	0	0	.	.	3.268e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.31590	.	.	.	.	.	.	.	0.14583984	0.27659	T	.	.	.	.	.	.	.	.	.	0.008892907154336088	0.00852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.694431	0.35069	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.78576	P	.;.	.;.	0.917127	0.12921	9.427	.	.	.	.	.	.	0.035294	0.04519	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.970000	0.03919	-0.417000	0.09309	0.179000	0.17797	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	65.35	1	chr1	146083817	.	A	C	65.35	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.14;DP=23;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=34.19;MQRankSum=0.893;QD=4.08;ReadPosRankSum=1.96;SOR=0.078	GT:AD:DP:GQ:PL	0/1:13,3:16:71:71,0,407	3	0	1	3
chr1	147276111	147276111	-	AAGTTATT	exonic	CHD1L	.	frameshift insertion	CHD1L:NM_001256338:exon8:c.781_782insAAGTTATT:p.R264Kfs*5,CHD1L:NM_001256337:exon9:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348454:exon9:c.937_938insAAGTTATT:p.R316Kfs*5,CHD1L:NM_001348456:exon9:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348463:exon10:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348466:exon10:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348459:exon12:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348461:exon12:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348464:exon12:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001256336:exon13:c.1093_1094insAAGTTATT:p.R368Kfs*5,CHD1L:NM_001348453:exon13:c.1054_1055insAAGTTATT:p.R355Kfs*5,CHD1L:NM_001348455:exon13:c.904_905insAAGTTATT:p.R305Kfs*5,CHD1L:NM_001348457:exon13:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348458:exon13:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348460:exon13:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348465:exon13:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_001348452:exon14:c.1177_1178insAAGTTATT:p.R396Kfs*5,CHD1L:NM_001348462:exon14:c.550_551insAAGTTATT:p.R187Kfs*5,CHD1L:NM_004284:exon14:c.1393_1394insAAGTTATT:p.R468Kfs*5,CHD1L:NM_024568:exon14:c.1054_1055insAAGTTATT:p.R355Kfs*5,CHD1L:NM_001348451:exon15:c.1177_1178insAAGTTATT:p.R396Kfs*5	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.605e-05	0	0	0	0	3.002e-05	0	0.0004	5.17e-05	8	154602	rs782715316	6.567e-05	6.704e-05	5.717e-05	7.426e-05	0.0003	5.495e-05	5.107e-05	0.0002	0.0002	2.987e-05	0	0	0	0	0.0002	5.846e-05	6.623e-05	0.0003	5.256e-05	5.253e-05	6.422e-05	4.035e-05	0.0004	2.557e-05	1.83e-05	7.293e-05	3.03e-05	2.413e-05	0	0	0	0	0	0	7.349e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1878.59	33	chr1	147276111	.	A	AAAGTTATT	1878.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.462;DP=257;ExcessHet=0;FS=1.798;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.63;ReadPosRankSum=1.79;SOR=0.822	GT:AD:DP:GQ:PL	0/1:35,48:83:99:1889,0,1316	6	0	1	0
chr1	149063792	149063792	G	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon15:c.C1867G:p.L623V,NBPF9:NM_001277444:exon15:c.C1867G:p.L623V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1249652356	0.0001	0.0003	0.0001	8.612e-05	0.0019	8.653e-05	7.845e-05	0.0013	0.0011	0.0019	0.0002	0	0.0001	0.0002	0.0005	3.504e-06	0.0001	0.0002	0.0005	0.0012	0.0005	0.0006	0.0019	0.0004	0.0004	0.0015	0.0014	0.0019	0	7.37e-05	0	0.0007	0.0001	0	4.605e-05	0	0	.	.	.	0.274	0.23914	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.17416	.	.	.	.	.	.	.	0.061448842	0.07705	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.959304	0.88511	D	.	.	.	.	.	.	.	.	-7.279	0.57017	T	.	.	0.147	0.36033	B	.;.;.;.;.;.	.;.;.;.;.;.	1.315989	0.17197	13.02	.	.	.	.	.	.	0.043962	0.07015	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.733000	0.37779	0.117000	0.14863	0.168000	0.17747	0.014000	0.18986	0.000000	0.08366	0.092000	0.17891	.	.	.	889	0.27310	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	35.27	17	chr1	149063792	.	G	C	35.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.823;DP=135;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=37.79;MQRankSum=2.17;QD=1.96;ReadPosRankSum=-1.222;SOR=0.473	GT:AD:DP:GQ:PL	0/1:14,4:18:45:45,0,385	5	0	1	1
chr1	149476000	149476000	C	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.C68A:p.T23K	.	439	1070	13	0	0	13	0.00603809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.914e-06	0.0001	6.637e-06	3.234e-06	3.197e-05	1.77e-06	1.16e-06	1.05e-06	7.1e-07	3.197e-05	2.263e-05	0	0	0	0	4.47e-06	0	0	0.0002	0.0020	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	9.567e-05	4.942e-05	0	6.976e-05	0.0012	0.0004	0.0001	0	0.0002	0	0.0005	.	.	.	0.238	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.136	0.15046	-0.9732	0.36518	T	0.000	0.00152	T	7	0.041458398	0.02803	T	2.1E-4	0.00005	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.001534	0.00977	T	-0.258436	0.13083	T	-0.609002	0.12066	T	0.0377450288243948	0.03287	T	0.49745	0.15470	T	0.038046084	0.04993	0.06475348	0.13026	0.038046084	0.04992	0.06475348	0.13026	-1.143	0.01172	T	.	.	0.050	0.00130	B	.;.;.	.;.;.	-0.436196	0.02080	0.193	0.30157414338663457	0.01635	0.00027	0.00265	N	AEFDBHCIJ	.	.	.	-1.71877720489443	0.00777	0.03357492	-1.76073307947	0.00893	0.03994536	0.999999413893899	0.74766	0.675202	0.55065	0	0.008208	0.00037	3	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.21	-0.139	0.12803	-0.024000	0.12382	-0.148000	0.11448	-0.613000	0.04580	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.416:0.2945:0.0:0.2895	2.171	0.03615	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	308.37	34	chr1	149476000	.	C	A	308.37	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.59;DP=571;ExcessHet=1.1394;FS=27.558;MLEAC=3;MLEAF=0.214;MQ=33.26;MQRankSum=-4.196;QD=0.67;ReadPosRankSum=-3.548;SOR=3.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,15:208:49:0|1:149475995_C_T:49,0,7982:149475995	4	0	3	0
chr1	149476006	149476006	G	A	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon1:c.G74A:p.R25H	.	440	1066	16	0	0	16	0.00744879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450463980	0.0016	0.0064	0.0017	0.0015	0.0019	0.0016	0.0016	0.0018	0.0018	0.0005	0.0005	0.0016	0.0009	0.0014	0.0015	0.0019	0.0015	0.0006	0.0005	0.0024	0.0004	0.0005	0.0004	0.0004	0.0003	0.0003	0.0003	0.0004	0	0.0003	0.0009	0.0002	0.0014	0	0.0004	0	0.0002	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.126	0.11912	-0.9534	0.40380	T	0.005	0.01578	T	9	0.034075946	0.01603	T	5.6E-4	0.00221	T	.	.	.	.	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.015807	0.13185	T	-0.346532	0.04948	T	-0.735546	0.04081	T	0.0515061975916717	0.05762	T	0.772023	0.40277	T	0.024656914	0.01319	0.043804567	0.05533	0.024656914	0.01319	0.043804567	0.05532	-6.957	0.53720	T	.	.	0.096	0.15160	B	.;.;.	.;.;.	0.628899	0.09975	6.729	0.91245755014531849	0.20504	0.00546	0.02508	N	AEFDBHCIJ	.	.	.	-1.10416153052003	0.06569	0.3027576	-1.28977332957077	0.04568	0.2157507	0.999999577828503	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.691665	0.62940	0	0.756233	0.99697	0	.	.	1.06	-1.67	0.07798	-1.475000	0.02441	-15.955000	0.00333	-0.714000	0.03913	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.587:0.0	4.485	0.11196	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	462.89	34	chr1	149476006	.	G	A	462.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=4.28;DP=629;ExcessHet=1.1394;FS=21.18;MLEAC=3;MLEAF=0.214;MQ=34.08;MQRankSum=-3.792;QD=0.95;ReadPosRankSum=-3.431;SOR=3.262	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,21:216:99:0|1:149475995_C_T:183,0,8017:149475995	4	0	3	0
chr1	151529432	151529432	G	A	exonic	CGN	.	nonsynonymous SNV	CGN:NM_020770:exon11:c.G1979A:p.R660Q	.	414	1106	1	1	0	3	0.0013544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0054	0.0061901	0.0018	0.0191	0.0006	0	0	0.0001	0.0022	0.0001	0.0017076	264	154602	rs116788396	0.0006	0.0006	0.0006	0.0005	0.0170	0.0005	0.0005	0.0159	0.0154	0.0170	0.0008	0	0.0002	1.873e-05	0.0023	8.184e-05	0.0012	0.0002	0.0043	0.0043	0.0045	0.0040	0.0149	0.0040	0.0039	0.0140	0.0136	0.0149	0	0.0012	0	0.0002	0	0.0034	0.0001	0.0014	0	0.136	0.26085	T	0.725	0.05256	T	.	.	.	.	.	.	0.073741	0.21326	N	0.472504	0.999652	0.20771	N	.	.	.	-0.03	0.63077	T	-0.5	0.15782	N	0.144	0.14480	-1.0213	0.23292	T	0.039	0.16892	T	10	0.0054581463	0.00120	T	.	.	.	0.064	0.18567	.	.	0.388812400583	0.38497	0.07684217951077739	0.07620	0.175032108942	0.19705	0.276989340782	0.07077	T	.	.	.	-0.590765	0.00166	T	-0.606433	0.12277	T	0.00941095471321685	0.00121	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.03773	B	.	.	2.330201	0.29851	18.25	0.99771765911826049	0.86003	0.44845	0.27408	N	AEFDGBI	0.148719	0.27267	N	-0.57008348474938	0.19858	1.042612	-0.4216367093487	0.24364	1.333726	0.26517012316576	0.18833	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.43	2.53	0.29594	0.582000	0.23535	2.780000	0.34729	0.676000	0.76740	0.737000	0.28995	0.994000	0.32194	0.990000	0.65344	0.3254:0.0:0.6746:0.0	6.082	0.19171	431	0.80762	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007599	0.020202	0.014946	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1486.53	45	chr1	151529432	.	G	A	1486.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.434;DP=291;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=0.761;SOR=0.606	GT:AD:DP:GQ:PL	0/1:30,54:84:99:1497,0,713	6	0	1	0
chr1	151770213	151770213	T	C	exonic	OAZ3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0050	0.00559105	0.0017	0.0198	0.0010	0	0	0	0.0022	6.074e-05	0.0016688	258	154602	rs115069090	0.0005	0.0005	0.0006	0.0005	0.0182	0.0005	0.0005	0.0170	0.0165	0.0182	0.0011	0	0	0	0.0016	1.709e-05	0.0013	6.956e-05	0.0044	0.0044	0.0048	0.0040	0.0153	0.0041	0.0040	0.0143	0.0139	0.0153	0	0.0021	0	0	0	0.0034	1.47e-05	0.0009	0	.	.	.	0.235	0.33109	T	.	.	.	.	.	.	0.000069	0.52346	D	0.000000	0.903057	0.81001	D	.	.	.	1.43	0.32958	T	.	.	.	0.806	0.82559	-1.1085	0.03201	T	0.044	0.18989	T	10	0.005957186	0.00134	T	.	.	.	0.106	0.30130	.	.	0.27855597813	0.27464	0.5639549011841519	0.56322	0.317390200861	0.33983	0.590671658516	0.51588	T	0.019198	0.43192	T	-0.430565	0.01470	T	-0.375658	0.36230	T	0.0172107703270242	0.00464	T	0.659134	0.26825	T	0.0891908	0.20832	0.20722903	0.44973	0.0891908	0.20832	0.20722903	0.44972	-5.691	0.43614	T	.	.	0.218	0.48705	B	.;.;.;.;.	.;.;.;.;.	2.857845	0.37752	20.6	0.9917956224035912	0.54643	0.89410	0.49858	D	AEFDBI	0.544752	0.55955	D	0.224260323232122	0.52378	3.412259	0.331448693107141	0.57395	3.905205	0.999987602623142	0.51787	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.43	5.43	0.79006	3.815000	0.55355	6.239000	0.55277	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:0.0:1.0	11.791	0.51339	292	0.88363	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.009511	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1737.44	44	chr1	151770213	.	T	C	1737.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.18;DP=455;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=-0.656;SOR=0.718	GT:AD:DP:GQ:PL	0/1:99,79:178:99:1748,0,2289	6	0	1	0
chr1	152111136	152111136	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G2081C:p.R694P	.	.	.	.	.	.	.	.	.	.	.	3485889	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.010275121378	0.0003	0.000199681	9.992e-05	0.0011	0	0	0	0	0	6.056e-05	8.41e-05	13	154602	rs199667222	2.805e-05	2.805e-05	2.723e-05	2.888e-05	0.0009	2.087e-05	1.879e-05	0.0006	0.0006	0.0009	2.236e-05	0	0	0	0	0	0.0001	3.478e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	0.0002	0	0	0	0	0	0	0	0.0	0.91255	D	0.102	0.38450	T	0.924	0.51285	P	0.415	0.44933	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.24	0.06845	T	-1.29	0.32387	N	0.343	0.38438	-0.9366	0.43149	T	0.006	0.01981	T	9	0.022737473	0.00576	T	0.010275	0.26610	T	0.050	0.13987	.	.	0.394990421082	0.39112	0.04057643567234445	0.04003	0.380035322412	0.39378	0.399327278137	0.24975	T	0.001966	0.01375	T	-0.515675	0.00466	T	-0.563949	0.16008	T	0.0473421474603687	0.05026	T	0.223678	0.02905	T	0.2540414	0.48430	0.22055812	0.46835	0.2540414	0.48430	0.22055812	0.46834	-5.415	0.41063	T	.	.	0.818	0.79552	P	.;.	.;.	1.372372	0.17825	13.39	0.63076596857843936	0.07128	0.03630	0.08873	N	AEFDBHCIJ	0.133834	0.25363	N	-0.689346018665143	0.16323	0.8306686	-0.855036738758771	0.13167	0.6815633	0.990141528035263	0.32054	0.582742	0.33608	0	0.541168	0.11318	0	0.378051	0.06126	2	0.603991	0.37454	0	.	.	3.24	1.25	0.20475	-3.682000	0.00442	.	.	0.585000	0.30472	0.000000	0.06391	0.314000	0.24288	0.001000	0.02609	0.0:0.6473:0.2247:0.128	4.650	0.11975	480	0.77422	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1529.45	36	chr1	152111136	.	C	G	1529.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.276;DP=378;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.16;ReadPosRankSum=1.46;SOR=0.739	GT:AD:DP:GQ:PL	0/1:43,65:108:99:1540,0,919	6	0	1	0
chr1	152302787	152302787	A	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T12099A:p.N4033K	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3666480	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.0029564501868	.	.	2.472e-05	0	0	0	0	2.998e-05	0	6.057e-05	1.94e-05	3	154602	rs747657151	1.368e-05	1.368e-05	1.089e-05	1.65e-05	0.0003	8.94e-06	7.26e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0003	4.496e-06	4.967e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	.	.	.	0.275	0.31898	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.1	0.28011	L	5.7	0.00742	T	-0.47	0.15178	N	0.303	0.34228	-0.9411	0.42442	T	0.001	0.00255	T	9	0.090332806	0.15726	T	0.002956	0.06280	T	0.041	0.10877	0.363	0.36874	0.188950314367	0.18478	0.006856570517212237	0.00652	.	.	0.39984369278	0.25047	T	0.030984	0.21832	T	-0.3903	0.02678	T	-0.595762	0.13170	T	0.249219000339508	0.22838	T	0.329867	0.06895	T	0.045831554	0.07568	0.04355594	0.05446	0.045831554	0.07567	0.04355594	0.05445	-3.636	0.18379	T	.	.	0.703	0.73083	P	.	.	0.277242	0.06543	3.029	0.65004788508008349	0.07651	0.05648	0.11560	N	AEBI	0.038465	0.05449	N	-0.928320532449086	0.10184	0.4854479	-1.03452661311166	0.09032	0.4471464	1.40997501529345E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.28	-1.26	0.08892	-0.523000	0.06316	.	.	-0.053000	0.16966	0.000000	0.06391	.	.	0.004000	0.06068	0.4808:0.1671:0.1907:0.1614	0.746	0.00920	556	0.71678	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2228.44	34	chr1	152302787	.	A	T	2228.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.49;DP=340;ExcessHet=0;FS=2.866;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=0.995;SOR=0.938	GT:AD:DP:GQ:PL	0/1:72,85:157:99:2239,0,1718	6	0	1	0
chr1	152310950	152310950	A	T	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T3936A:p.H1312Q	Ichthyosis vulgaris, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1175753	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0058	0.00658946	0.0018	0.0194	0.0011	0	0	2.997e-05	0	6.056e-05	0.0017335	268	154602	rs115324644	0.0006	0.0006	0.0007	0.0005	0.0192	0.0005	0.0005	0.0179	0.0175	0.0192	0.0012	0	0	0	0.0003	5.216e-05	0.0013	0.0001	0.0052	0.0052	0.0054	0.0050	0.0181	0.0049	0.0048	0.0170	0.0166	0.0181	0	0.0018	0	0	0	0	1.472e-05	0.0038	0	0.016	0.51853	D	.	.	.	0.064	0.23455	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	1.995	0.54099	M	4.48	0.02067	T	-1.52	0.36980	N	0.156	0.16168	-0.9117	0.46645	T	0.002	0.00585	T	9	0.0034829676	0.00062	T	.	.	.	0.035	0.08770	0.183	0.09131	0.0551355673512	0.04727	0.004276470813270199	0.00401	.	.	0.314964830875	0.12658	T	0.02445	0.18471	T	-0.751191	0.00017	T	-0.836215	0.01157	T	0.00641396402820345	0.00071	T	0.314169	0.06189	T	0.057711255	0.11521	0.067429624	0.13947	0.057711255	0.11520	0.067429624	0.13946	-7.372	0.56707	T	.	.	0.164	0.36174	B	.	.	-1.012167	0.00754	0.023	0.64466170480773366	0.07501	0.00125	0.00780	N	AEFBI	0.027289	0.02204	N	-1.80689990925158	0.00528	0.02275175	-1.99204984947487	0.00318	0.01405679	0.847016255503387	0.24972	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.82	-5.64	0.02269	-3.306000	0.00574	.	.	-0.495000	0.05035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1665:0.2403:0.4741:0.1191	4.018	0.09140	589	0.68969	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002643	0.005051	0.004076	0.004098	0.000000	0.000000	0.000000	0.000000	0.07143	4737.44	242	chr1	152310950	.	A	T	4737.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.722;DP=2009;ExcessHet=0;FS=7.38;MLEAC=1;MLEAF=0.071;MQ=59.96;MQRankSum=0;QD=12.31;ReadPosRankSum=1.14;SOR=0.445	GT:AD:DP:GQ:PL	0/1:199,186:385:99:4748,0,5251	6	0	1	0
chr1	152511721	152511721	G	A	exonic	LCE5A	.	nonsynonymous SNV	LCE5A:NM_178438:exon2:c.G187A:p.E63K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	0.0052	0.00638978	0.0018	0.0196	0.0008	0	0	1.501e-05	0	0.0001	0.00174	269	154602	rs144519020	0.0006	0.0006	0.0007	0.0005	0.0211	0.0006	0.0005	0.0198	0.0193	0.0211	0.0011	0	0	0	0.0002	2.518e-05	0.0013	9.275e-05	0.0054	0.0055	0.0056	0.0052	0.0191	0.0051	0.0050	0.0180	0.0176	0.0191	0	0.0016	0	0	0	0	2.941e-05	0.0043	0	0.541	0.06779	T	0.785	0.04260	T	0.015	0.17086	B	0.016	0.17743	B	.	.	.	.	0.999976	0.18612	N	0.345	0.11182	N	3.88	0.03570	T	-0.4	0.13805	N	0.261	0.29544	-0.9059	0.47343	T	0.003	0.00929	T	9	0.0039749146	0.00077	T	.	.	.	0.035	0.08770	.	.	0.233785782151	0.22967	0.05617611203100091	0.05558	0.187262311553	0.21039	.	.	.	0.004792	0.04206	T	-0.66705	0.00057	T	-0.714691	0.05056	T	0.0158639320604737	0.00372	T	0.39556	0.09932	T	0.09297168	0.21824	0.13636254	0.32624	0.09297168	0.21824	0.13636254	0.32623	-4.108	0.25408	T	.	.	0.171	0.37520	B	.	.	2.062979	0.26232	17.04	0.9718162617310756	0.32722	0.81389	0.40803	D	AEFBI	0.095653	0.19323	N	-0.429903297385496	0.24426	1.31883	-0.269855116199645	0.29097	1.627461	6.48631545004086E-4	0.07527	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	4.31	0.50718	3.343000	0.51884	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.181000	0.21328	0.0945:0.0:0.9055:0.0	9.572	0.38596	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.07143	1825.45	39	chr1	152511721	.	G	A	1825.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.615;DP=328;ExcessHet=0;FS=2.285;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-0.819;SOR=0.518	GT:AD:DP:GQ:PL	0/1:61,69:130:99:1836,0,1612	6	0	1	0
chr1	152515515	152515515	-	GGCTGCTGCGGCGACTCA	exonic	CRCT1	.	nonframeshift insertion	CRCT1:NM_019060:exon2:c.132_133insGGCTGCTGCGGCGACTCA:p.G54_S55insDSGCCG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0155751	0.0009	0.0065	0.0002	0.0055	0	0	0.0034	0.0005	0.0001537	4	26028	rs564362000	0.0011	0.0011	0.0012	0.0009	0.0206	0.0010	0.0010	0.0193	0.0188	0.0206	0.0012	0	0.0090	0	0.0002	4.147e-05	0.0040	0.0017	0.0067	0.0068	0.0066	0.0067	0.0253	0.0063	0.0062	0.0217	0.0204	0.0196	0	0.0020	0	0.0253	0	0	1.47e-05	0.0047	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	314.59	22	chr1	152515515	.	G	GGGCTGCTGCGGCGACTCA	314.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.415;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.108;SOR=0.773	GT:AD:DP:GQ:PL	0/1:17,9:26:99:325,0,689	6	0	1	0
chr1	153777862	153777862	C	T	exonic	SLC27A3	.	stopgain	SLC27A3:NM_001317929:exon4:c.C1138T:p.R380X,SLC27A3:NM_024330:exon4:c.C1138T:p.R380X	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	0.0003	0	0.0009	0	0	0.0003	0	0.0002	0.0002652	41	154602	rs201878467	0.0002	0.0002	0.0001	0.0002	0.0047	0.0001	0.0001	0.0033	0.0028	0.0001	0.0011	0	0	0	0.0047	9.353e-05	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0003	8.656e-05	7.25e-05	0.0001	7.893e-05	2.405e-05	0	0.0003	0	0.0002	0	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000006	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.392	0.43514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25466	0.79036	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.119912	0.98492	39	0.99731512155226676	0.82833	0.91720	0.54120	D	ALL	0.223770	0.34808	N	0.57537452116366	0.71641	5.681696	0.395492462740748	0.61285	4.326667	0.999999999753528	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.77	4.77	0.60425	3.191000	0.50682	4.820000	0.45111	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	15.311	0.73735	75	0.96833	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.004076	0.002924	0.000000	0.000000	0.003049	0.000000	0.07143	710.53	35	chr1	153777862	.	C	T	710.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.755;DP=259;ExcessHet=0;FS=1.891;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=-0.817;SOR=0.948	GT:AD:DP:GQ:PL	0/1:45,32:77:99:721,0,1025	6	0	1	0
chr1	154273885	154273885	G	C	exonic	HAX1	.	nonsynonymous SNV	HAX1:NM_001018837:exon3:c.G284C:p.G95A,HAX1:NM_006118:exon3:c.G428C:p.G143A	Neutropenia, severe congenital 3, autosomal recessive, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	556933	Inborn_genetic_diseases|not_provided|Kostmann_syndrome	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012548,MedGen:C5235141,OMIM:610738,Orphanet:99749	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.103	0.0325241095012	.	.	0.0002	0	0.0004	0	0	0.0002	0.0022	0.0003	0.0002005	31	154602	rs755031266	0.0001	0.0001	9.256e-05	0.0001	0.0054	0.0001	9.833e-05	0.0039	0.0034	0.0001	0.0007	0	0	0	0.0054	6.205e-05	0.0002	0.0003	0.0001	0.0001	8.997e-05	0.0002	0.0002	9.742e-05	8.256e-05	0.0001	8.879e-05	2.407e-05	0	0.0002	0	0	0	0.0102	0.0002	0.0005	0.0002	0.045	0.45393	D	0.037	0.53426	D	0.204	0.47667	B	0.107	0.45477	B	0.003638	0.34687	N	0.289185	0.990635	0.24145	N	2.155	0.60227	M	-0.1	0.64264	T	-0.39	0.25770	N	0.265	0.31590	-0.9720	0.36776	T	0.092	0.34983	T	10	0.11071029	0.20702	T	0.032524	0.54329	D	0.103	0.29403	.	.	0.867300734482	0.86601	0.4214572079012798	0.42061	0.658459894302	0.58751	0.477099329233	0.35657	T	0.364216	0.72984	T	-0.327449	0.06306	T	-0.340541	0.40284	T	0.0440886818830096	0.04437	T	0.864413	0.56163	D	0.12044953	0.28342	0.11409873	0.27539	0.13181397	0.30713	0.089028284	0.20795	-4.605	0.32234	T	0.18247092490097	0.23577	0.098	0.19276	B	.;.;.;.	.;.;.;.	2.340020	0.29987	18.30	0.99858889322311228	0.93729	0.84284	0.43366	D	AEFDBI	0.586554	0.58455	D	0.100307710544865	0.46475	2.887445	0.142323270608374	0.46737	2.914839	0.999996405743336	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.662677	0.59975	0	0.735409	0.98432	0	.	.	5.85	3.99	0.45527	0.688000	0.25103	7.503000	0.59513	0.596000	0.33519	0.178000	0.24038	1.000000	0.68203	0.996000	0.76049	0.1628:0.0:0.8372:0.0	9.531	0.38361	338	0.86082	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.004532	0.000000	0.006793	0.008772	0.000000	0.000000	0.003049	0.000000	0.07143	669.46	35	chr1	154273885	.	G	C	669.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.303;DP=232;ExcessHet=0;FS=2.175;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.81;SOR=0.906	GT:AD:DP:GQ:PL	0/1:27,32:59:99:680,0,702	6	0	1	0
chr1	154337411	154337411	G	A	exonic	ATP8B2	.	nonsynonymous SNV	ATP8B2:NM_001367934:exon11:c.G958A:p.E320K,ATP8B2:NM_001005855:exon12:c.G901A:p.E301K,ATP8B2:NM_001370596:exon12:c.G901A:p.E301K,ATP8B2:NM_001370597:exon12:c.G901A:p.E301K,ATP8B2:NM_001372009:exon12:c.G901A:p.E301K	.	410	1078	33	1	0	35	0.0159744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.0169390783709	0.0031	0.00179712	0.0037	0.0007	0.0026	0.0002	0.0014	0.0049	0.0099	0.0042	0.0034152	528	154602	rs41304564	0.0027	0.0027	0.0026	0.0028	0.0113	0.0026	0.0026	0.0091	0.0083	0.0002	0.0019	0.0104	0.0002	0.0016	0.0113	0.0025	0.0035	0.0047	0.0024	0.0024	0.0025	0.0023	0.0046	0.0022	0.0021	0.0031	0.0030	0.0003	0.0033	0.0016	0.0112	0.0002	0.0020	0.0102	0.0035	0.0033	0.0046	0.64	0.05002	T	0.877	0.03250	T	0.04	0.21357	B	0.013	0.16460	B	0.000000	0.84330	D	0.000000	0.999707	0.48408	D	.	.	.	-2.37	0.88220	D	-0.58	0.19720	N	0.306	0.34552	-0.7169	0.59615	T	0.223	0.58742	T	10	0.0077991486	0.00177	T	0.016939	0.38428	T	0.355	0.67600	.	.	0.781140881159	0.77911	0.635693494009724	0.63503	0.628108854042	0.56883	0.59986948967	0.52886	T	.	.	.	-0.141578	0.29639	T	0.0237126	0.71870	D	0.0124413987690525	0.00204	T	0.853215	0.53849	D	.	.	.	.	.	.	.	.	-7.122	0.59161	T	.	.	0.113	0.22428	B	.;.	.;.	3.212134	0.43726	21.8	0.98843403016275333	0.47169	0.94733	0.62143	D	AEFBI	0.486704	0.52576	N	-0.302990982930507	0.29035	1.606549	-0.0620030983154683	0.36975	2.158833	0.999999712195385	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	5.17	0.70848	1.795000	0.38418	4.976000	0.46431	0.596000	0.33519	0.979000	0.35152	1.000000	0.68203	0.749000	0.35751	0.0855:0.0:0.9145:0.0	10.905	0.46283	359	0.84979	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.009146	0.007576	0.07143	1565.49	33	chr1	154337411	.	G	A	1565.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.83;DP=305;ExcessHet=0;FS=1.432;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.772;SOR=0.543	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1576,0,1574	6	0	1	0
chr1	154558298	154558298	C	A	exonic	UBE2Q1	.	nonsynonymous SNV	UBE2Q1:NM_017582:exon1:c.G256T:p.A86S	.	325	1180	16	1	0	18	0.00756939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0022	0.00119808	0.0039	0.0004	0.0036	0	0.0020	0.0053	0.0140	0.0027	0.0022898	354	154602	rs202059318	0.0022	0.0022	0.0021	0.0023	0.0088	0.0021	0.0021	0.0067	0.0059	0.0003	0.0015	0.0057	0	0.0017	0.0088	0.0022	0.0026	0.0032	0.0019	0.0019	0.0020	0.0017	0.0037	0.0017	0.0016	0.0027	0.0025	0.0002	0.0033	0.0008	0.0046	0	0.0016	0.0034	0.0030	0.0024	0.0037	0.253	0.16958	T	0.363	0.16815	T	0.001	0.07471	B	0.001	0.04355	B	0.065141	0.21903	N	0.234110	0.955766	0.26322	N	0	0.06538	N	1.08	0.39401	T	0.19	0.04947	N	0.105	0.08925	-0.9951	0.31272	T	0.013	0.05321	T	10	0.005991876	0.00134	T	.	.	.	0.016	0.02506	.	.	0.182106788282	0.17826	0.21996386590725103	0.21912	1.05001893674	0.76114	0.756650805473	0.75431	T	0.018887	0.15149	T	-0.590259	0.00167	T	-0.622433	0.10995	T	0.0133708668250187	0.00241	T	0.444256	0.12390	T	0.08793063	0.20495	0.051356357	0.08247	0.08793063	0.20495	0.051356357	0.08246	-4.8	0.34591	T	.	.	0.079	0.07412	B	.	.	2.896957	0.38380	20.7	0.93188905231359431	0.22853	0.78922	0.39015	D	AEFDGBHCI	0.189454	0.31670	N	-0.670891570278855	0.16854	0.8623621	-0.536259242295464	0.21172	1.144064	0.999999756380639	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.621717	0.48901	0	.	.	4.4	-1.21	0.09033	-0.095000	0.11043	5.397000	0.48500	0.549000	0.26987	0.978000	0.35038	1.000000	0.68203	0.994000	0.71098	0.1578:0.4014:0.1543:0.2865	1.030	0.01439	459	0.78817	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004578	0.000000	0.002732	0.002941	0.000000	0.008621	0.009146	0.000000	0.08333	906.27	29	chr1	154558298	.	C	A	906.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.104;DP=221;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=1.05;SOR=0.85	GT:AD:DP:GQ:PL	0/1:24,39:63:99:916,0,479	5	0	1	1
chr1	156293371	156293371	G	A	exonic	GLMP	.	nonsynonymous SNV	GLMP:NM_001256605:exon4:c.C746T:p.T249M,GLMP:NM_001256604:exon5:c.C857T:p.T286M,GLMP:NM_001256609:exon5:c.C761T:p.T254M,GLMP:NM_144580:exon5:c.C1004T:p.T335M	.	.	.	.	.	.	.	.	.	.	.	3251844	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0217710338677	.	.	3.297e-05	0	0	0.0002	0.0002	1.499e-05	0	0	2.59e-05	4	154602	rs765364245	4.104e-06	4.104e-06	2.722e-06	5.5e-06	7.557e-05	1.48e-06	9.7e-07	2.003e-05	1.055e-05	0	2.236e-05	0	7.557e-05	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.003	0.92824	D	0.976	0.58310	D	0.375	0.43710	B	0.000001	0.84330	D	0.055782	0.92785	0.36877	D	.	.	.	1.77	0.25841	T	-2.67	0.57110	D	0.695	0.71765	-1.0957	0.04653	T	0.044	0.19070	T	10	0.5827205	0.65939	D	0.021771	0.44583	T	0.221	0.51721	0.508	0.60386	0.0666544352282	0.05500	0.818606088730686	0.81817	0.642352258747	0.57803	.	.	.	0.177312	0.52757	T	-0.0699709	0.41331	T	-0.112583	0.62404	T	0.682302176952362	0.39893	D	0.880112	0.59716	D	0.21273269	0.43633	0.23093547	0.48210	0.21273269	0.43633	0.23093547	0.48209	-9.759	0.72456	D	.	.	0.228	0.46037	B	.;.;.	.;.;.	5.046844	0.84037	28.2	0.99890218077172988	0.96436	0.71878	0.35205	D	AEFDBCI	0.758234	0.69694	D	0.313976230626149	0.56866	3.852045	0.306387079035156	0.55916	3.754333	0.999949192803912	0.47345	0.706548	0.73137	0	0.643519	0.57511	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.29	4.35	0.51454	3.652000	0.54179	8.612000	0.77773	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.705000	0.34296	0.0933:0.0:0.9067:0.0	10.074	0.41524	301	0.87912	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1879.53	34	chr1	156293371	.	G	A	1879.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.992;DP=310;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0;SOR=0.708	GT:AD:DP:GQ:PL	0/1:54,74:128:99:1890,0,1185	6	0	1	0
chr1	156807225	156807225	G	T	exonic	SH2D2A	.	nonsynonymous SNV	SH2D2A:NM_001161443:exon7:c.C1039A:p.L347I,SH2D2A:NM_001161441:exon8:c.C1153A:p.L385I,SH2D2A:NM_001161442:exon8:c.C1069A:p.L357I,SH2D2A:NM_001161444:exon8:c.C1123A:p.L375I,SH2D2A:NM_003975:exon8:c.C1123A:p.L375I	.	425	1087	9	1	0	11	0.00503432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00530180888616	.	0.000199681	0.0003	0	0.0002	0	0	6.096e-05	0.0034	0.0019	0.0002717	42	154602	rs200276932	0.0003	0.0002	0.0002	0.0004	0.0024	0.0002	0.0002	0.0022	0.0021	0	0.0002	5.584e-05	5.115e-05	3.07e-05	0.0018	7.405e-05	0.0004	0.0024	0.0001	0.0001	0.0001	0.0001	0.0025	7.026e-05	5.658e-05	0.0013	0.0010	0	0	0	0.0003	0	0	0	7.64e-05	0	0.0025	0.013	0.53900	D	0.459	0.12632	T	0.267	0.34500	B	0.086	0.35748	B	0.955763	0.07685	U	1.029950	0.999849	0.20103	N	1.39	0.34934	L	0.27	0.59176	T	-0.44	0.14588	N	0.284	0.38027	-0.9837	0.34140	T	0.067	0.27434	T	10	0.013887078	0.00293	T	0.005302	0.13556	T	0.070	0.20419	0.15	0.05339	0.805283226746	0.80346	0.02649781138326378	0.02599	0.558242330845	0.52408	0.392729759216	0.24053	T	0.331055	0.70117	T	-0.498757	0.00581	T	-0.495374	0.22827	T	0.0290585482397297	0.01847	T	0.689231	0.29860	T	0.064302005	0.13628	0.054849472	0.09511	0.064302005	0.13628	0.054849472	0.09511	-5.457	0.41596	T	.	.	0.105	0.24599	B	.;.;.	.;.;.	1.633908	0.20861	14.94	0.97159772861086946	0.32625	0.25761	0.22795	N	AEFBCI	0.129270	0.24738	N	-0.314305197414442	0.28604	1.579084	-0.235455491484538	0.30276	1.70326	0.635621410917293	0.22007	0.706298	0.61202	0	0.585951	0.33947	0	0.709663	0.75317	0	0.550183	0.17644	0	.	.	4.5	3.57	0.40014	1.231000	0.32226	2.153000	0.30925	0.676000	0.76740	0.308000	0.25396	0.869000	0.27571	0.982000	0.59238	0.0:0.0:0.778:0.222	9.765	0.39724	707	0.57054	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1027.49	33	chr1	156807225	.	G	T	1027.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.015;DP=263;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=1.24;SOR=0.693	GT:AD:DP:GQ:PL	0/1:46,40:86:99:1038,0,1151	6	0	1	0
chr1	156930615	156930615	G	A	exonic	LRRC71	.	nonsynonymous SNV	LRRC71:NM_144702:exon12:c.G1327A:p.E443K	.	417	1104	1	0	0	1	0.000452694	0.9596	0.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.026708126564	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs568071610	2.132e-05	2.531e-05	2.106e-05	2.159e-05	0.0005	1.512e-05	1.313e-05	0.0001	7.62e-05	0	0	0	0	0	0.0005	2.307e-05	3.422e-05	0	1.315e-05	1.313e-05	0	2.692e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.019	0.50132	D	0.039	0.51112	D	0.999	0.77913	D	0.98	0.74843	D	0.000021	0.55875	D	0.000000	0.655707	0.33005	D	1.905	0.50856	L	1.58	0.29085	T	-1.51	0.36787	N	0.646	0.65758	-1.0586	0.12108	T	0.089	0.34381	T	10	0.76309526	0.76496	D	0.026708	0.49594	D	0.204	0.49076	0.44	0.49484	0.434160288164	0.43035	0.2269477358670421	0.22609	0.734598784777	0.62906	0.579318881035	0.49990	T	0.003212	0.02616	T	0.00615934	0.52501	T	-0.228929	0.51875	T	0.946554243564606	0.62494	D	0.659134	0.26825	T	0.22955866	0.45695	0.21319571	0.45820	0.22955866	0.45695	0.21319571	0.45819	-1.954	0.03012	T	.	.	0.497	0.64468	A	.	.	4.987204	0.82651	27.8	0.99898111782852084	0.97048	0.84495	0.43577	D	AEFDBCI	0.647167	0.62244	D	0.490219712305439	0.66517	4.96041	0.471052297713157	0.66079	4.905704	0.999999999590148	0.74766	0.679555	0.55442	0	0.563428	0.19063	0	0.600882	0.32295	2	0.586402	0.36253	0	.	.	5.43	5.43	0.79006	5.113000	0.64480	11.691000	0.94356	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.103000	0.18424	0.0:0.0:1.0:0.0	16.274	0.82461	435	0.80441	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1130.63	36	chr1	156930615	.	G	A	1130.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.187;DP=237;ExcessHet=0;FS=2.191;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.528;SOR=0.428	GT:AD:DP:GQ:PL	0/1:23,44:67:99:1141,0,483	6	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	988.67	156	chr1	161048864	.	C	G	988.67	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-5.131;DP=1126;ExcessHet=1.1394;FS=231.764;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.96;SOR=9.18	GT:AD:DP:GQ:PL	0/1:157,51:217:99:270,0,3346	2	0	3	2
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E,TMCO1:NM_001256165:exon6:c.C384G:p.D128E,TMCO1:NM_019026:exon6:c.C420G:p.D140E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	87.83	40	chr1	165743215	.	G	C	87.83	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.222;DP=328;ExcessHet=0.4139;FS=330.863;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.628;SOR=8.764	GT:AD:DP:GQ:PL	0/1:41,23:64:69:69,0,558	4	0	2	1
chr1	167438643	167438643	T	C	exonic	CD247	.	nonsynonymous SNV	CD247:NM_000734:exon4:c.A227G:p.N76S,CD247:NM_198053:exon4:c.A227G:p.N76S,CD247:NM_001378515:exon5:c.A320G:p.N107S,CD247:NM_001378516:exon5:c.A320G:p.N107S	.	0	1521	1	0	0	1	0.000328623	.	.	.	1039589	Immunodeficiency_25|not_specified	MONDO:MONDO:0012426,MedGen:C1857798,OMIM:610163|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.00449724863141	.	.	.	.	.	.	.	.	.	.	.	.	.	rs943679483	3.011e-05	3.01e-05	3.541e-05	2.476e-05	3.689e-05	2.282e-05	2.033e-05	2.744e-05	2.47e-05	0	0	0	0	0	0	3.689e-05	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.11957	T	0.547	0.09621	T	0.032	0.20242	B	0.036	0.22909	B	0.585635	0.11100	U	0.739987	0.994086	0.23590	N	1.445	0.36358	L	0.82	0.48142	T	-2.24	0.50175	N	0.199	0.21969	-1.0315	0.19970	T	0.041	0.17785	T	9	0.16297442	0.30529	T	0.004497	0.11063	T	0.112	0.31546	0.739	0.87147	0.43528964386	0.43150	0.12390193558224058	0.12316	0.145740688672	0.16458	0.431688040495	0.29440	T	0.192972	0.54829	T	-0.324622	0.06526	T	-0.704073	0.05606	T	0.142567962408066	0.16494	T	0.713829	0.34191	T	0.1761152	0.38507	0.10494455	0.25217	0.1761152	0.38507	0.10494455	0.25217	-5.601	0.44154	T	0.09241084381842628	0.05970	0.077	0.07554	B	.;.	.;.	1.107248	0.14919	11.44	0.93353122832408564	0.23089	0.09971	0.15603	N	AEFDBI	0.073766	0.14764	N	-0.549274531750015	0.20507	1.081526	-0.481261807888518	0.22671	1.232499	0.999811696065105	0.43459	0.676563	0.55306	0	0.563428	0.19063	0	0.673471	0.61138	0	0.530356	0.10902	0	.	.	4.52	2.14	0.26518	0.316000	0.19217	1.115000	0.24192	0.665000	0.62972	0.285000	0.25187	0.904000	0.28019	0.975000	0.56047	0.0:0.1116:0.275:0.6134	4.628	0.11873	905	0.23532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1528.44	33	chr1	167438643	.	T	C	1528.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.93;DP=327;ExcessHet=0;FS=3.13;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.291;SOR=0.974	GT:AD:DP:GQ:PL	0/1:67,63:130:99:1539,0,1519	6	0	1	0
chr1	168045049	168045049	G	C	exonic	DCAF6	.	nonsynonymous SNV	DCAF6:NM_001349780:exon13:c.G1408C:p.E470Q,DCAF6:NM_001017977:exon14:c.G1849C:p.E617Q,DCAF6:NM_001349777:exon14:c.G1468C:p.E490Q,DCAF6:NM_001349778:exon14:c.G1408C:p.E470Q,DCAF6:NM_001349779:exon14:c.G1408C:p.E470Q,DCAF6:NM_001198957:exon15:c.G1987C:p.E663Q,DCAF6:NM_001349774:exon15:c.G1468C:p.E490Q,DCAF6:NM_001349775:exon15:c.G1468C:p.E490Q,DCAF6:NM_001349776:exon15:c.G1468C:p.E490Q,DCAF6:NM_018442:exon15:c.G1909C:p.E637Q,DCAF6:NM_001198956:exon16:c.G2080C:p.E694Q,DCAF6:NM_001349773:exon16:c.G2080C:p.E694Q	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00323947396023	7.7e-05	.	0.0003	0	0	0	0	0.0001	0.0011	0.0018	0.0002781	43	154602	rs147907503	0.0003	0.0003	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	2.987e-05	4.475e-05	0	0	3.744e-05	0.0007	0.0001	0.0003	0.0021	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0.0003	0	0	0	0	0.0002	0	0.0019	0.06	0.39097	T	0.553	0.09931	T	0.321	0.53183	B	0.334	0.44752	B	0.053270	0.22822	N	0.440276	1	0.08975	N	1.905	0.50856	L	1.58	0.29085	T	-0.75	0.22944	N	0.113	0.10769	-1.0741	0.08535	T	0.023	0.09741	T	9	0.010872841	0.00240	T	0.003239	0.07147	T	0.050	0.13987	.	.	0.282416095408	0.27849	0.1277394271299239	0.12699	0.402464485075	0.41201	0.270843923092	0.06251	T	0.029898	0.21320	T	-0.566031	0.00234	T	-0.593105	0.13398	T	0.0276251095796761	0.01633	T	0.768023	0.39669	T	0.0970485	0.22870	0.06738257	0.13933	0.113138095	0.26722	0.07012239	0.14860	-3.936	0.25995	T	0.1954546748012736	0.25786	0.090	0.12891	B	.;.;.;.	.;.;.;.	2.029792	0.25795	16.89	0.97351872574069476	0.33529	0.70758	0.34724	D	AEFGBI	0.237327	0.35962	N	-0.396958512177019	0.25577	1.389465	-0.354555808344517	0.26369	1.456023	0.999990418588841	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	3.38	0.37806	2.173000	0.42099	3.797000	0.39853	0.618000	0.50648	0.729000	0.28913	0.766000	0.26662	0.989000	0.64315	0.0:0.2862:0.7138:0.0	14.113	0.64666	555	0.71762	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	5996.44	35	chr1	168045049	.	G	C	5996.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.276;DP=537;ExcessHet=0;FS=0.413;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.47;ReadPosRankSum=0.253;SOR=0.745	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,155:308:99:0|1:168045048_T_C:6007,0,5848:168045048	6	0	1	0
chr1	169169493	169169493	T	C	exonic	NME7	.	nonsynonymous SNV	NME7:NM_013330:exon11:c.A1052G:p.Q351R,NME7:NM_197972:exon11:c.A944G:p.Q315R	.	.	.	.	.	.	.	.	.	.	.	2695832	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00415405226665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.159e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.15984	T	0.682	0.06090	T	0.002	0.09854	B	0.007	0.12992	B	0.001418	0.39109	N	0.288766	0.783001	0.34291	D	-0.005	0.05143	N	0.66	0.52416	T	-0.53	0.17417	N	0.502	0.53445	-0.9996	0.30030	T	0.019	0.07753	T	9	0.27536908	0.45094	T	0.004154	0.09963	T	0.041	0.10877	0.339	0.32979	0.499218193508	0.49558	0.5400535357227382	0.53930	0.0950001848615	0.10726	0.657689929008	0.61079	T	0.089741	0.38436	T	-0.167406	0.25627	T	-0.478243	0.24634	T	0.333209447615301	0.26353	T	0.833717	0.50261	T	0.065556	0.14023	0.097577974	0.23231	0.065556	0.14023	0.097577974	0.23231	-6.707	0.59574	T	.	.	0.097	0.18456	B	.;.	.;.	2.646220	0.34442	19.63	0.91554699657638794	0.20833	0.83412	0.42531	D	AEFI	0.486901	0.52587	N	-0.66823313931019	0.16931	0.8669404	-0.432380388497019	0.24053	1.31503	0.264624508514836	0.18827	0.706298	0.61202	0	0.670034	0.63936	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.48	3.14	0.35196	4.424000	0.59617	5.005000	0.46626	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0754:0.1436:0.781	7.468	0.26500	624	0.65661	Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain|NDPK7, second NDPk domain;Nucleoside diphosphate kinase-like domain|Nucleoside diphosphate kinase-like domain|NDPK7, second NDPk domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	491.63	33	chr1	169169493	.	T	C	491.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.723;DP=259;ExcessHet=0;FS=3.089;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.65;ReadPosRankSum=-1.632;SOR=1.134	GT:AD:DP:GQ:PL	0/1:59,28:87:99:502,0,1475	6	0	1	0
chr1	169612376	169612376	G	A	exonic	SELP	.	nonsynonymous SNV	SELP:NM_003005:exon6:c.C802T:p.P268S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.0358733429647	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262285313	6.841e-07	6.84e-07	1.361e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	6.572e-06	6.567e-06	0	1.345e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.02	0.65419	D	0.04	0.70582	D	.	.	.	.	.	.	0.025565	0.26066	N	0.195103	0.995654	0.81001	D	.	.	.	-0.13	0.64818	T	-4.96	0.94073	D	0.178	0.37923	0.414	0.89315	D	0.580	0.84880	D	10	0.9586885	0.95254	D	0.035873	0.56631	D	0.427	0.73445	0.808	0.92512	0.833602840456	0.83202	0.6118694253647528	0.61118	0.335818286482	0.35586	0.319587647915	0.13358	T	0.114258	0.57692	T	0.0281254	0.55474	T	-0.114511	0.62250	T	0.924415051937103	0.58558	D	0.860114	0.55285	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.54175	B	.;.;.;.;.	.;.;.;.;.	3.586463	0.50588	23.0	0.99818919324574362	0.90238	0.95125	0.63529	D	AEFBI	0.449841	0.50449	N	0.253865896875593	0.53829	3.550362	0.146407382324725	0.46952	2.932902	0.999994691240137	0.74766	0.615465	0.37627	0	0.547309	0.14657	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	5.39	5.39	0.77615	1.755000	0.38008	6.433000	0.55637	0.676000	0.76740	0.951000	0.33123	1.000000	0.68203	0.029000	0.12982	0.0:0.0:1.0:0.0	15.879	0.78971	775	0.48401	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1582.44	40	chr1	169612376	.	G	A	1582.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.206;DP=336;ExcessHet=0;FS=6.716;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.85;SOR=0.336	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1593,0,1732	6	0	1	0
chr1	177276287	177276287	G	C	exonic	BRINP2	.	nonsynonymous SNV	BRINP2:NM_021165:exon6:c.G865C:p.V289L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00705353670763	.	.	.	.	.	.	.	.	.	.	.	.	.	rs142708611	1.3e-05	1.3e-05	1.361e-05	1.238e-05	4.472e-05	8.31e-06	6.7e-06	8.52e-06	6.89e-06	0	4.472e-05	0	0	0	0	1.439e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.18122	T	0.344	0.17804	T	0.0	0.02946	B	0.001	0.04355	B	0.187348	0.16940	N	0.620699	0.999892	0.19781	N	1.18	0.29980	L	2.49	0.14531	T	-1.85	0.43334	N	0.323	0.36359	-1.0019	0.29372	T	0.019	0.08173	T	10	0.12766472	0.24279	T	0.007054	0.18676	T	0.030	0.07022	0.331	0.31681	0.161926535498	0.15789	0.3235388457333741	0.32266	0.247725272145	0.27330	0.366266191006	0.20295	T	0.052985	0.29316	T	-0.38049	0.03094	T	-0.608477	0.12108	T	0.0617195777595043	0.07437	T	0.424058	0.11326	T	0.11275018	0.26634	0.13927878	0.33237	0.11275018	0.26634	0.13927878	0.33236	-3.92	0.22602	T	.	.	0.080	0.07841	B	.	.	0.955285	0.13314	9.818	0.87396275523796185	0.17197	0.18951	0.20468	N	AEFI	0.279334	0.39341	N	-0.990188874032692	0.08812	0.4146416	-0.9202569537169	0.11617	0.592903	0.0430242832197016	0.14552	0.581397	0.33459	0	0.59043	0.45803	0	0.565031	0.19037	0	0.564101	0.26826	0	.	.	6.07	-3.15	0.04912	0.136000	0.15794	0.235000	0.16237	-0.106000	0.15538	0.007000	0.17678	0.001000	0.17328	0.968000	0.53726	0.6782:0.0:0.3218:0.0	13.809	0.62743	732	0.54084	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2097.44	33	chr1	177276287	.	G	C	2097.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.023;DP=371;ExcessHet=0;FS=1.818;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.572;SOR=0.54	GT:AD:DP:GQ:PL	0/1:94,90:184:99:2108,0,2176	6	0	1	0
chr1	178458392	178458392	T	G	exonic	RASAL2	.	nonsynonymous SNV	RASAL2:NM_004841:exon12:c.T2677G:p.S893A,RASAL2:NM_170692:exon14:c.T3100G:p.S1034A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.0114216049172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.278	0.21812	T	0.043	0.21573	B	0.037	0.23121	B	0.002621	0.36243	N	0.257319	0.999848	0.49770	D	1.76	0.45711	L	2.66	0.12575	T	-0.99	0.26200	N	0.567	0.59053	-1.1656	0.00629	T	0.063	0.26172	T	10	0.3042617	0.47952	T	0.011422	0.29027	T	0.153	0.40148	.	.	0.264547087235	0.26054	0.3287832274749324	0.32791	0.760933052735	0.64261	0.763590931892	0.76465	T	0.257658	0.62871	T	-0.0878313	0.38434	T	-0.36394	0.37595	T	0.910913228988647	0.56630	D	0.775922	0.40781	T	0.13848169	0.32025	0.1060774	0.25511	0.13848169	0.32025	0.1060774	0.25511	-6.069	0.47084	T	.	.	0.082	0.10691	B	.;.	.;.	4.549906	0.71601	25.7	0.99662464669221174	0.78011	0.99526	0.97076	D	AEFGBI	0.782047	0.71345	D	0.360545952751108	0.59298	4.108128	0.433310668764328	0.63654	4.603303	0.995768156983183	0.34312	0.631981	0.41245	0	0.588015	0.36545	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	7.340000	0.78530	7.800000	0.69123	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:0.0:1.0	15.547	0.75846	574	0.70151	.;Domain of unknown function DUF3498	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1564.49	34	chr1	178458392	.	T	G	1564.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.128;DP=271;ExcessHet=0;FS=5.482;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=-0.734;SOR=0.322	GT:AD:DP:GQ:PL	0/1:36,57:93:99:1575,0,999	6	0	1	0
chr1	179996909	179996909	C	T	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon6:c.C752T:p.A251V	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00630035234136	0.0002	0.000199681	0.0001	0	0	0	0	0.0001	0.0022	0.0004	0.0001164	18	154602	rs149644649	9.373e-05	9.44e-05	0.0001	8.664e-05	0.0003	8.093e-05	7.585e-05	0.0002	0.0002	2.987e-05	2.236e-05	0	0	3.746e-05	0.0002	8.904e-05	0.0001	0.0003	5.91e-05	5.906e-05	5.141e-05	6.713e-05	0.0002	3.075e-05	2.209e-05	5.842e-05	4.239e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	1.0	0.11550	T	0.557	0.09205	T	0.0	0.02946	B	0.0	0.01387	B	0.077739	0.21086	N	0.335465	1	0.08975	N	-1.87	0.00254	N	2.14	0.19450	T	0.67	0.02263	N	0.093	0.07262	-0.9859	0.33615	T	0.015	0.06138	T	9	0.0075332224	0.00171	T	0.006	0.16551	T	0.027	0.05988	.	.	0.0675242888579	0.06100	0.050824412617870074	0.05024	0.0675433162862	0.07553	0.321871310472	0.13705	T	0.003862	0.03272	T	-0.546902	0.00304	T	-0.712845	0.05149	T	0.0247158167057292	0.01235	T	0.410359	0.14930	T	0.02306487	0.01016	0.033250574	0.02190	0.02306487	0.01016	0.033250574	0.02189	-3.115	0.11469	T	.	.	0.051	0.00183	B	.;.	.;.	0.426718	0.07970	4.685	0.6903592203035307	0.08844	0.01923	0.05872	N	AEFBI	0.026207	0.01926	N	-1.05339858936749	0.07521	0.3496577	-0.889446620208868	0.12343	0.6343766	0.998633968388086	0.37351	0.489673	0.17934	0	0.71359	0.82159	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.47	2.93	0.33092	-0.182000	0.09720	0.940000	0.22845	-1.687000	0.00777	0.088000	0.22533	1.000000	0.68203	0.415000	0.27117	0.1469:0.0844:0.3038:0.4649	2.242	0.03777	185	0.92771	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	1986.44	34	chr1	179996909	.	C	T	1986.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.248;DP=345;ExcessHet=0;FS=0.597;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-1.045;SOR=0.779	GT:AD:DP:GQ:PL	0/1:72,82:154:99:1997,0,1650	6	0	1	0
chr1	193075828	193075828	A	G	exonic	RO60	.	nonsynonymous SNV	RO60:NM_001042369:exon3:c.A589G:p.I197V,RO60:NM_001042370:exon3:c.A589G:p.I197V,RO60:NM_001173524:exon3:c.A589G:p.I197V,RO60:NM_001173525:exon3:c.A589G:p.I197V,RO60:NM_004600:exon3:c.A589G:p.I197V	.	432	1082	8	0	0	8	0.00368324	.	.	.	2758848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.00398259057835	0.0004	0.000199681	0.0002	0.0001	8.744e-05	0.0003	0	0.0002	0	0.0001	0.0001358	21	154602	rs200525528	0.0001	0.0001	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0	4.766e-05	0	0.0002	1.878e-05	0.0004	0.0002	0.0002	0.0001	0.0001	0.0001	0.0002	0.0001	0.0004	9.74e-05	8.255e-05	9.051e-05	7.015e-05	0.0001	0	0.0002	0	0	0	0	0.0002	0	0.0004	0.398	0.91255	T	0.453	0.15650	T	0.0	0.02946	B	0.0	0.01387	B	0.006185	0.32207	N	0.356558	1	0.81001	D	0.49	0.13296	N	2.57	0.13552	T	0.06	0.10833	N	0.124	0.12913	-0.9972	0.30701	T	0.017	0.07092	T	10	0.021449089	0.00513	T	0.003983	0.09431	T	0.015	0.02232	.	.	0.143124449307	0.13826	0.07912533439858711	0.07847	0.116420580842	0.13130	0.31076964736	0.12023	T	0.076413	0.35411	T	-0.462164	0.00953	T	-0.569579	0.15488	T	0.0182165447622538	0.00542	T	0.752425	0.37950	T	0.013319344	0.00055	0.024440479	0.00464	0.013319344	0.00055	0.024440479	0.00464	-3.207	0.14193	T	.	.	0.053	0.06710	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.195518	0.15871	12.16	0.77813698264211828	0.12033	0.25768	0.22797	N	AEFBI	0.094360	0.19079	N	-0.888513881011583	0.11116	0.5346699	-0.780562743261856	0.14971	0.7850816	0.999427491371472	0.39630	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.77	-0.903	0.09999	0.057000	0.14157	-0.101000	0.11941	-0.065000	0.16512	0.020000	0.19661	0.000000	0.08366	0.997000	0.79791	0.6271:0.1154:0.2575:0.0	6.556	0.21658	324	0.86790	TROVE domain|TROVE domain;.;TROVE domain|TROVE domain;.;.;.;TROVE domain|TROVE domain;TROVE domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	421.69	5	chr1	193075828	.	A	G	421.69	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.65;DP=68;ExcessHet=0.3476;FS=4.374;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.22;ReadPosRankSum=0.524;SOR=1.916	GT:AD:DP:GQ:PL	0/1:9,12:21:99:366,0,210	5	0	2	0
chr1	197090947	197090947	T	G	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon22:c.A4784C:p.Q1595P,ASPM:NM_018136:exon23:c.A9539C:p.Q3180P	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	1	1509	11	1	0	13	0.00428901	.	.	.	34480	Microcephaly_5,_primary,_autosomal_recessive|not_provided|not_specified	MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.282	.	7.7e-05	0.0113818	0.0050	0	0.0005	0	0	1.502e-05	0.0011	0.0365	0.0044501	688	154602	rs193251130	0.0023	0.0023	0.0013	0.0033	0.0359	0.0022	0.0022	0.0348	0.0344	0.0001	0.0004	3.829e-05	0.0001	0	0.0017	5.218e-05	0.0024	0.0359	0.0013	0.0013	0.0007	0.0019	0.0377	0.0011	0.0011	0.0333	0.0315	0.0001	0	0.0001	0	0	0	0	7.353e-05	0.0009	0.0377	0.065	0.50132	T	0.032	0.72224	D	0.989	0.62824	D	0.885	0.62825	P	0.013255	0.28902	N	0.266702	1.20995e-10	0.08975	A	2.52	0.73523	M	0.26	0.59314	T	-2.98	0.71276	D	0.494	0.57263	-0.4301	0.71064	T	0.288	0.65958	T	9	0.032000035	0.01343	T	.	.	.	0.282	0.59981	.	.	0.477917065107	0.47419	0.366185907918656	0.36532	.	.	0.23918569088	0.02718	T	0.413237	0.76716	T	-0.184656	0.23047	T	-0.0108623	0.69627	D	0.0414177480070669	0.03949	T	0.792521	0.45757	T	0.3373604	0.56069	0.37748984	0.62848	0.34863216	0.56960	0.4231333	0.66193	-8.767	0.66185	D	.	.	0.241	0.47513	B	.;.;.	.;.;.	2.732123	0.35768	19.98	0.99407790188364209	0.63122	0.34432	0.25066	N	AEFBI	0.323304	0.42553	N	-0.180647961897867	0.33940	1.931432	-0.352870896266355	0.26421	1.459215	0.00454900683188445	0.10609	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.93	2.61	0.30255	0.150000	0.16082	-2.409000	0.03790	0.609000	0.47794	0.003000	0.16062	0.000000	0.08366	0.954000	0.50415	0.0:0.2438:0.0:0.7562	8.105	0.30042	184	0.92813	IQ motif, EF-hand binding site;.;IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.07143	746.44	36	chr1	197090947	.	T	G	746.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.342;DP=305;ExcessHet=0;FS=0.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=0.76;SOR=0.603	GT:AD:DP:GQ:PL	0/1:75,41:116:99:757,0,1719	6	0	1	0
chr1	202729148	202729148	C	T	exonic	KDM5B	.	nonsynonymous SNV	KDM5B:NM_001347591:exon26:c.G4388A:p.S1463N,KDM5B:NM_006618:exon27:c.G4523A:p.S1508N,KDM5B:NM_001314042:exon28:c.G4631A:p.S1544N	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.0139327758051	.	.	0.0003	0	0	0	0	0	0	0.0023	0.0002458	38	154602	rs759557715	0.0001	0.0001	6.534e-05	0.0002	0.0023	0.0001	0.0001	0.0021	0.0020	0	2.237e-05	0	2.519e-05	0	0.0002	0	6.623e-05	0.0023	7.22e-05	7.217e-05	2.569e-05	0.0001	0.0023	3.967e-05	3.124e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.107	0.29823	T	0.072	0.45110	T	0.007	0.16609	B	0.007	0.14941	B	0.000000	0.84330	D	0.035208	0.999945	0.53665	D	0.59	0.15444	N	-1.88	0.84487	D	-0.52	0.16187	N	0.45	0.48780	-0.4937	0.68876	T	0.393	0.74677	T	10	0.043435127	0.03192	T	0.013933	0.33698	T	0.305	0.62620	0.399	0.42753	0.412064437402	0.40821	0.2708919055594575	0.27002	0.221580012741	0.24695	0.721313118935	0.70239	T	0.027294	0.20020	T	-0.37356	0.03418	T	-0.315227	0.43097	T	0.0716355487032685	0.08878	T	0.806319	0.45525	T	0.15349941	0.34790	0.1494118	0.35280	0.17509925	0.38349	0.15987884	0.37264	-5.152	0.38450	T	.	.	0.112	0.33800	B	.;.;.;.;.	.;.;.;.;.	3.657736	0.51945	23.2	0.98757090067667086	0.45755	0.98432	0.82716	D	AEFDBI	0.658708	0.62988	D	0.049252744456416	0.44107	2.69092	0.284670802803803	0.54643	3.628791	0.999999881313519	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.95	5.95	0.96415	5.739000	0.68261	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9294:0.0:0.0706	13.569	0.61302	411	0.82069	Zinc finger, PHD-finger|Zinc finger, PHD-finger|Zinc finger, PHD-type;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	2179.92	34	chr1	202729148	.	C	T	2179.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.9;DP=359;ExcessHet=0.4139;FS=6.795;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.73;SOR=1.117	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1375,0,1322	4	0	2	1
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	776.49	69	chr1	204444146	.	C	T	776.49	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.669;DP=644;ExcessHet=2.5225;FS=250.412;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=1.17;SOR=9.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,23:118:99:0|1:204444146_C_T:191,0,3245:204444146	3	0	4	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	333.34	69	chr1	204444147	.	A	G	333.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.307;DP=565;ExcessHet=0.3476;FS=324.178;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.51;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,23:118:99:0|1:204444146_C_T:191,0,3245:204444146	5	0	2	0
chr1	209775710	209775710	C	T	exonic	TRAF3IP3	.	nonsynonymous SNV	TRAF3IP3:NM_001287754:exon4:c.C235T:p.L79F,TRAF3IP3:NM_001320143:exon11:c.C1027T:p.L343F,TRAF3IP3:NM_001320144:exon11:c.C967T:p.L323F,TRAF3IP3:NM_025228:exon11:c.C1027T:p.L343F	.	380	1130	12	0	0	12	0.00528169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.339	.	0.0048	0.00439297	0.0040	0.0010	0.0045	0	0.0006	0.0061	0.0022	0.0005	0.0040491	626	154602	rs41307652	0.0050	0.0050	0.0050	0.0050	0.0059	0.0049	0.0049	0.0058	0.0057	0.0009	0.0052	0.0031	0	0.0006	0.0029	0.0059	0.0050	0.0005	0.0039	0.0039	0.0041	0.0036	0.0076	0.0036	0.0035	0.0065	0.0060	0.0009	0.0011	0.0076	0.0035	0	0.0003	0	0.0058	0.0090	0.0006	0.054	0.38633	T	0.162	0.63109	T	0.936	0.52359	P	0.609	0.51053	P	0.000005	0.62929	D	0.000000	0.79027	0.36624	D	2.255	0.64187	M	-1.39	0.83241	T	-1.88	0.46842	N	0.23	0.28498	0.078	0.83778	D	0.454	0.78703	T	10	0.006277114	0.00142	T	.	.	.	0.339	0.66106	.	.	0.842767848883	0.84126	0.16174860794809576	0.16095	0.225302997667	0.25073	0.505809545517	0.39637	T	0.030478	0.28058	T	-0.27487	0.11219	T	-0.164997	0.57900	T	0.0171851992259915	0.00462	T	0.794321	0.50060	T	0.12734988	0.29803	0.11810117	0.28508	0.12734988	0.29803	0.11810117	0.28508	-3.567	0.17381	T	.	.	0.165	0.47503	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.763646	0.22429	15.62	0.9963881840598402	0.76510	0.61101	0.31386	D	AEFDGBCI	0.183072	0.31040	N	0.281987145407786	0.55235	3.687721	0.305944561205827	0.55886	3.752	0.999999998942335	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.78	4.78	0.60666	1.280000	0.32807	1.346000	0.25772	0.599000	0.40250	0.955000	0.33325	0.774000	0.26724	0.948000	0.49324	0.0:0.9068:0.0:0.0932	10.11	0.41730	866	0.32446	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.002725	0.000000	0.000000	0.000000	0.006135	0.000000	0.1429	2299.29	32	chr1	209775710	.	C	T	2299.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.344;DP=295;ExcessHet=0.3476;FS=0.613;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.23;ReadPosRankSum=0.989;SOR=0.797	GT:AD:DP:GQ:PL	0/1:27,45:72:99:1160,0,680	5	0	2	0
chr1	210241790	210241790	G	A	exonic	SERTAD4	.	nonsynonymous SNV	SERTAD4:NM_001375428:exon4:c.G524A:p.R175Q,SERTAD4:NM_019605:exon4:c.G524A:p.R175Q	.	406	1101	14	1	0	16	0.00721371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	.	0.0015	0.00299521	0.0028	0.0007	0.0015	0	0.0006	0.0025	0.0044	0.0080	0.0026067	403	154602	rs138093906	0.0023	0.0023	0.0021	0.0025	0.0139	0.0023	0.0022	0.0114	0.0105	0.0005	0.0022	0.0058	2.519e-05	0.0007	0.0139	0.0020	0.0027	0.0079	0.0022	0.0022	0.0019	0.0025	0.0081	0.0020	0.0019	0.0061	0.0054	0.0003	0.0351	0.0062	0.0072	0	0.0002	0.0068	0.0017	0.0028	0.0081	0.0	0.91255	D	0.011	0.64786	D	1.0	0.90584	D	0.988	0.77976	D	0.000011	0.62929	D	0.000000	0.998528	0.45035	D	1.1	0.28011	L	.	.	.	-1.8	0.42384	N	0.789	0.78546	-0.3561	0.73377	T	0.349	0.71352	T	9	0.008887917	0.00201	T	.	.	.	0.534	0.80426	.	.	0.275349458131	0.27150	0.7133482058669399	0.71277	0.499410879327	0.48384	0.553123831749	0.46299	T	0.123561	0.44801	T	0.0293313	0.55634	T	0.273781	0.86783	D	0.0358935744080481	0.02962	T	.	.	.	0.5058693	0.67438	0.4796554	0.69862	0.5058693	0.67439	0.4796554	0.69862	-5.214	0.39084	T	.	.	0.655	0.71124	P	.	.	5.336649	0.89551	30	0.99950196937596725	0.99938	0.99091	0.91093	D	AEFBI	0.843061	0.76012	D	0.731939406711602	0.81726	7.590215	0.762702796108757	0.87103	9.107962	0.999999981136599	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.221012	0.04332	2	.	.	5.55	5.55	0.83298	7.874000	0.85582	11.927000	0.99878	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.861	0.96782	699	0.57969	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.000000	0.013587	0.011696	0.000000	0.017241	0.000000	0.011364	0.1429	4065.24	37	chr1	210241790	.	G	A	4065.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.19;DP=485;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.63;SOR=0.679	GT:AD:DP:GQ:PL	0/1:106,76:182:99:1806,0,2577	5	0	2	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	161.88	42	chr1	214645259	.	T	C	161.88	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.76;DP=613;ExcessHet=1.383;FS=138.726;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.99;SOR=9.23	GT:AD:DP:GQ:PL	0/1:114,36:150:99:149,0,2192	3	0	3	1
chr1	229651283	229651283	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon8:c.G4198A:p.V1400M,URB2:NM_014777:exon8:c.G4198A:p.V1400M	.	429	1062	30	1	0	32	0.0148423	.	.	.	718765	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.146	.	0.0055	0.0061901	0.0073	0.0012	0.0045	0.0001	0.0017	0.0079	0.0134	0.0164	0.007322	1132	154602	rs12142450	0.0075	0.0076	0.0074	0.0077	0.0160	0.0074	0.0074	0.0153	0.0150	0.0014	0.0040	0.0030	0	0.0028	0.0075	0.0078	0.0066	0.0160	0.0051	0.0051	0.0052	0.0050	0.0163	0.0048	0.0047	0.0134	0.0124	0.0016	0	0.0048	0.0029	0.0002	0.0020	0.0137	0.0075	0.0057	0.0163	0.037	0.59928	D	0.015	0.61642	D	0.988	0.62325	D	0.909	0.64565	D	0.002798	0.35935	N	0.300277	0.997342	0.43813	D	2.72	0.79541	M	1.0	0.41392	T	-0.72	0.50337	N	0.359	0.40063	-0.9761	0.35882	T	0.119	0.41691	T	9	0.006525457	0.00148	T	.	.	.	0.146	0.38789	.	.	0.187945064343	0.18414	0.3738495987657628	0.37298	0.345258720488	0.36438	0.27029812336	0.06179	T	0.075909	0.35292	T	-0.411872	0.01931	T	-0.350777	0.39117	T	0.0211395378185626	0.00816	T	0.886711	0.61387	D	0.033498842	0.03579	0.062224187	0.12142	0.033498842	0.03579	0.062224187	0.12141	-4.655	0.32855	T	.	.	0.259	0.49324	B	.;.	.;.	2.609720	0.33888	19.47	0.99700267357857819	0.80591	0.89704	0.50340	D	AEFBI	0.229967	0.35342	N	0.0195449998012908	0.42745	2.581276	-0.0451914890706626	0.37699	2.210879	0.0814482181084177	0.15873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.78	-0.505	0.11394	1.045000	0.29951	-0.819000	0.07303	-0.153000	0.12021	1.000000	0.71638	0.000000	0.08366	0.990000	0.65344	0.0:0.3209:0.387:0.2922	10.548	0.44261	508	0.75398	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008560	0.000000	0.004076	0.005848	0.000000	0.017241	0.015244	0.018939	0.1429	1800.44	33	chr1	229651283	.	G	A	1800.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.81;DP=334;ExcessHet=0.3476;FS=0.535;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=0.161;SOR=0.76	GT:AD:DP:GQ:PL	0/1:61,46:107:99:964,0,1415	5	0	2	0
chr1	231352708	231352708	A	G	exonic	SPRTN	.	nonsynonymous SNV	SPRTN:NM_032018:exon5:c.A817G:p.I273V	Ruijs-Aalfs syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00355283890261	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1288715363	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	1.0	0.11770	T	0.658	0.17531	T	0.0	0.02946	B	0.001	0.04355	B	0.502677	0.05101	N	1.277620	1	0.08975	N	1.14	0.29013	L	0.97	0.42502	T	0.06	0.06253	N	0.018	0.00252	-1.0242	0.22344	T	0.067	0.27468	T	10	0.052633375	0.05329	T	0.003553	0.08092	T	0.027	0.05988	0.205	0.12076	0.158540857583	0.15491	0.25389716832553005	0.25303	0.0185954411421	0.01812	0.264885962009	0.05487	T	0.01785	0.14492	T	-0.383715	0.02951	T	-0.788956	0.02193	T	0.0167882908135653	0.00434	T	0.518348	0.17581	T	0.011796705	0.00022	0.016967118	0.00024	0.011796705	0.00022	0.016967118	0.00024	-3.312	0.13893	T	.	.	0.066	0.02200	B	.;.	.;.	-0.908081	0.00913	0.034	0.14493606678647925	0.00322	0.04906	0.10656	N	AEFGBI	0.038891	0.05569	N	-1.29100254910783	0.03783	0.1696035	-1.38392561718925	0.03423	0.1596236	0.999997946501547	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.723	0.93126	0	.	.	5.26	-5.77	0.02176	-0.231000	0.09081	-0.038000	0.12706	0.743000	0.86499	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5344:0.103:0.3626:0.0	8.649	0.33189	648	0.63242	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	35.46	34	chr1	231352708	.	A	G	35.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.596;DP=310;ExcessHet=0;FS=49.524;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.178;SOR=5.891	GT:AD:DP:GQ:PL	0/1:78,18:96:46:46,0,1823	6	0	1	0
chr1	233353928	233353928	C	A	exonic	MAP3K21	.	nonsynonymous SNV	MAP3K21:NM_032435:exon3:c.C1108A:p.P370T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.877	0.189826788779	.	.	4.149e-05	0	0	0	0	7.522e-05	0	0	3.23e-05	5	154602	rs759012065	2.747e-05	2.941e-05	2.734e-05	2.761e-05	3.515e-05	2.071e-05	1.823e-05	2.631e-05	2.31e-05	0	0	0	0	0	0	3.515e-05	1.664e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	2.415e-05	2.19e-06	8.2e-07	.	.	2.415e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.04	0.50809	D	0.997	0.90584	D	0.983	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.57	0.89692	D	-7.73	0.95732	D	0.879	0.93959	0.790	0.94290	D	0.816	0.93794	D	10	0.87668055	0.86961	D	0.189827	0.86086	D	0.877	0.96354	0.594	0.72371	0.774575070414	0.77250	0.8108768064464306	0.81042	1.8671837485	0.92471	0.81611931324	0.84432	D	0.631528	0.88586	D	0.339243	0.85786	D	0.379973	0.91429	D	0.879317760467529	0.52928	D	0.989401	0.96508	D	0.9133784	0.92612	0.7922573	0.87786	0.9133784	0.92613	0.7922573	0.87786	-15.001	0.95855	D	.	.	0.671	0.80321	P	.;.	.;.	4.838830	0.78981	27.0	0.99764134084694556	0.85335	0.98210	0.80566	D	AEFI	0.908471	0.86382	D	0.803496743588997	0.86324	8.848932	0.76434524011839	0.87224	9.149213	0.999999999999127	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.91	4.91	0.63897	7.899000	0.85994	7.319000	0.58157	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	18.301	0.90104	893	0.26510	.;Serine-threonine/tyrosine-protein kinase, catalytic domain|Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1307.45	34	chr1	233353928	.	C	A	1307.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.05;DP=300;ExcessHet=0;FS=0.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.47;SOR=0.613	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1318,0,1071	6	0	1	0
chr1	241723314	241723314	C	T	exonic	WDR64	.	nonsynonymous SNV	WDR64:NM_001367482:exon10:c.C1072T:p.R358W	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0803709452637	.	.	8.243e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs751512962	1.642e-05	1.642e-05	1.906e-05	1.375e-05	8.118e-05	1.111e-05	9.34e-06	3.766e-05	2.662e-05	0	0	0.0002	0	0	0	9.894e-06	0	8.118e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.004794	0.33389	N	0.133058	0.889129	0.35913	D	2.215	0.62545	M	1.97	0.22067	T	-6.55	0.91827	D	0.907	0.90818	-0.4874	0.69100	T	0.235	0.60197	T	10	0.7913077	0.78684	D	0.080371	0.73445	D	0.282	0.59981	0.663	0.80098	0.297031009988	0.29315	0.8276922723537147	0.82727	0.434792675804	0.43605	0.737298965454	0.72575	T	0.173903	0.52294	T	-0.0287362	0.47602	T	-0.019375	0.69069	D	0.976707756519318	0.71502	D	0.911409	0.71541	D	0.5127366	0.67839	0.3707851	0.62321	0.5127366	0.67840	0.3707851	0.62320	-11.804	0.83883	D	.	.	0.814	0.80112	P	.;.;.	.;.;.	4.947150	0.81692	27.6	0.99902449673210114	0.97426	0.74360	0.36376	D	AEFGI	0.450577	0.50491	N	0.497312440859913	0.66931	5.01471	0.394024727557128	0.61194	4.316354	0.0699502150248828	0.15507	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.7	3.71	0.41733	3.167000	0.50493	3.851000	0.40089	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.234000	0.22842	0.1839:0.8161:0.0:0.0	11.161	0.47742	859	0.33891	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2265.44	34	chr1	241723314	.	C	T	2265.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.37;DP=379;ExcessHet=0;FS=4.079;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.884;SOR=1.006	GT:AD:DP:GQ:PL	0/1:104,93:197:99:2276,0,2327	6	0	1	0
chr1	246843811	246843811	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon34:c.A6509G:p.K2170R,AHCTF1:NM_001323343:exon34:c.A6509G:p.K2170R,AHCTF1:NM_015446:exon34:c.A6536G:p.K2179R	.	1055	460	2	5	0	12	0.0128755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00698120750387	0.0018	0.00239617	0.0025	0.0001	0.0024	0.0001	0	0.0035	0.0025	0.0029	0.0020763	321	154602	rs146417813	0.0017	0.0018	0.0016	0.0018	0.0188	0.0016	0.0016	0.0153	0.0140	0.0003	0.0012	0.0089	5.844e-05	6.274e-05	0.0188	0.0015	0.0029	0.0028	0.0017	0.0017	0.0019	0.0015	0.0025	0.0015	0.0015	0.0022	0.0020	0.0003	0	0.0016	0.0095	0	0	0.0204	0.0025	0.0033	0.0023	0.653	0.04802	T	0.579	0.08685	T	0.001	0.07471	B	0.002	0.06944	B	0.189287	0.16890	N	0.602060	1	0.08975	N	1.13	0.28900	L	1.61	0.28391	T	-0.37	0.13226	N	0.064	0.05929	-1.0223	0.22965	T	0.030	0.13067	T	10	0.0053425133	0.00117	T	0.006981	0.18485	T	0.016	0.02506	.	.	0.252829632966	0.24901	0.06322072602380963	0.06261	0.201751063607	0.22580	0.21403862536	0.00995	T	0.035666	0.23808	T	-0.707788	0.00033	T	-0.79408	0.02055	T	0.0024258184804653	0.00025	T	0.587941	0.21519	T	0.03907174	0.05327	0.032779865	0.02066	0.03907174	0.05327	0.032779865	0.02066	-4.685	0.33222	T	.	.	0.083	0.09094	B	.;.;.	.;.;.	-0.590436	0.01598	0.108	0.55561035985374962	0.05368	0.02980	0.07830	N	AEFGBI	0.039816	0.05836	N	-1.14112630310275	0.05927	0.2715225	-1.14568492292391	0.06846	0.3309162	2.66950826835638E-4	0.06244	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.17	-0.428	0.11693	-0.560000	0.06055	-4.093000	0.02347	0.609000	0.47794	0.002000	0.15269	0.000000	0.08366	0.007000	0.07825	0.1555:0.4186:0.0:0.4259	4.495	0.11245	813	0.42397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009073	0.000000	0.005435	0.002924	0.000000	0.025862	0.012195	0.026515	0.08333	363.27	17	chr1	246843811	.	T	C	363.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.205;DP=145;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=59.25;MQRankSum=1.18;QD=12.53;ReadPosRankSum=0.395;SOR=0.741	GT:AD:DP:GQ:PL	0/1:13,16:29:99:373,0,279	5	0	1	1
chr1	247949492	247949492	G	C	exonic	OR2L8	.	nonsynonymous SNV	OR2L8:NM_001001963:exon1:c.G635C:p.G212A	.	431	954	137	0	0	137	0.0669927	.	.	.	3567362	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	0.000755472054538	.	.	9.101e-05	0.0002	0	0	0	0.0001	0	0	0.0004995	13	26028	rs200574966	0.0001	0.0061	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	3.033e-05	0	3.861e-05	2.558e-05	5.693e-05	0.0002	0.0002	0.0001	5.872e-05	0.0003	0.0084	0.0003	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0.0004	0	0.0002	9.756e-05	0	7.505e-05	0.0015	0.0004	.	.	.	.	.	.	0.001	0.07471	B	0.021	0.19346	B	0.446818	0.12558	U	0.592578	1	0.08975	N	0.175	0.09039	N	.	.	.	.	.	.	.	.	-1.0572	0.12465	T	0.035	0.15247	T	10	0.05015081	0.04707	T	7.55E-4	0.00529	T	.	.	.	.	.	.	0.0971041359842281	0.09641	.	.	0.196209579706	0.00355	T	0.00371	0.03121	T	-0.33051	0.06074	T	-0.712531	0.05166	T	0.0468932795453433	0.04946	T	0.0759924	0.00559	T	0.051389877	0.09430	0.047986154	0.07030	0.051389877	0.09429	0.047986154	0.07030	-3.461	0.15890	T	.	.	0.070	0.03588	B	.	.	-0.753225	0.01203	0.059	0.75514092856022963	0.11104	0.00220	0.01242	N	AEFI	0.015257	0.00282	N	-1.56839154189077	0.01430	0.06237095	-1.65869361444473	0.01331	0.0600902	6.44935728979901E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.8	-3.61	0.04264	-1.360000	0.02706	.	.	-1.316000	0.01230	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2703:0.1902:0.5394	5.646	0.16867	946	0.12043	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	214.53	145	chr1	247949492	.	G	C	214.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=1310;ExcessHet=0;FS=40.42;MLEAC=1;MLEAF=0.071;MQ=56.36;MQRankSum=-5.05;QD=0.71;ReadPosRankSum=-5.885;SOR=2.888	GT:AD:DP:GQ:PL	0/1:268,34:302:99:225,0,7809	6	0	1	0
chr1	248638325	248638325	G	T	exonic	OR2T35	.	nonsynonymous SNV	OR2T35:NM_001001827:exon1:c.C934A:p.Q312K	.	448	1067	5	2	0	9	0.00419972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.000651785031621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773478284	0.0008	0.0005	0.0007	0.0008	0.0029	0.0007	0.0007	0.0017	0.0015	7.549e-05	0.0003	0	0	3.975e-05	0.0029	0.0008	0.0013	0.0018	0.0006	0.0006	0.0007	0.0005	0.0016	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0005	0	0	0	0	0.0010	0.0006	0.0016	0.224	0.18691	T	0.715	0.05434	T	0.0	0.02946	B	0.003	0.08700	B	0.405105	0.13072	N	0.663946	1	0.08975	N	0.155	0.08919	N	1.28	0.35960	T	-0.3	0.11913	N	0.142	0.14196	-0.9946	0.31405	T	0.029	0.12234	T	10	0.046363443	0.03818	T	6.52E-4	0.00350	T	0.015	0.02232	.	.	0.351146185902	0.34720	0.10346781363592959	0.10276	1.95920376204	0.93432	0.353717148304	0.18468	T	0.002057	0.01461	T	-0.353512	0.04510	T	-0.745572	0.03661	T	0.0677950714799263	0.08339	T	0.342966	0.07460	T	0.05353292	0.10144	0.044990294	0.05953	0.05353292	0.10144	0.044990294	0.05953	-4.112	0.25467	T	.	.	0.081	0.08417	B	.;.	.;.	-0.469683	0.01966	0.170	0.35780286028575425	0.02265	0.00643	0.02809	N	AEFI	0.027572	0.02277	N	-1.74467045494547	0.00695	0.0300075	-1.82722822433919	0.00676	0.0300648	1.39872963777933E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.14	-4.28	0.03475	-1.465000	0.02463	-2.347000	0.03869	0.309000	0.19094	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0975:0.1411:0.3308:0.4306	2.792	0.05060	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1428.49	107	chr1	248638325	.	G	T	1428.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.356;DP=638;ExcessHet=0;FS=3.047;MLEAC=1;MLEAF=0.071;MQ=50.61;MQRankSum=2.33;QD=10.06;ReadPosRankSum=1.27;SOR=1.012	GT:AD:DP:GQ:PL	0/1:78,64:142:99:1439,0,2007	6	0	1	0
chr2	21003040	21003040	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G12382A:p.V4128M	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1501	19	1	0	21	0.00694674	.	.	YES	366335	Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_specified|not_provided|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00339457	0.0062	0.0009	0.0059	0	0.0064	0.0080	0.0146	0.0049	0.0058602	906	154602	rs1801703	0.0072	0.0072	0.0073	0.0072	0.0100	0.0071	0.0071	0.0079	0.0079	0.0017	0.0043	0.0007	7.656e-05	0.0054	0.0100	0.0081	0.0075	0.0052	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0085	0.0016	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	0.618	0.05341	T	0.684	0.06033	T	.	.	.	.	.	.	0.051185	0.02021	N	1.899840	1	0.08975	N	.	.	.	1.47	0.31987	T	0.16	0.05217	N	0.065	0.03726	-1.0567	0.12595	T	0.016	0.06425	T	10	0.0028062165	0.00044	T	.	.	.	0.024	0.04979	.	.	0.149567049428	0.14543	0.09888669999826209	0.09819	0.0368754698301	0.03907	0.182299241424	0.00117	T	.	.	.	-0.723562	0.00026	T	-0.804162	0.01801	T	0.00187586309304137	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	-0.778509	0.01150	0.054	0.56985998092514478	0.05670	0.04011	0.09439	N	AEFGBHCI	0.241675	0.36325	N	-2.3493621597773	0.00035	0.001513355	-2.3987015562225	0.00039	0.001737205	0.999999999999984	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.99	-12.0	0.00013	-1.855000	0.01755	-8.347000	0.00985	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2677:0.4423:0.1244:0.1655	5.102	0.14098	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.010101	0.014946	0.011696	0.000000	0.000000	0.006098	0.003788	0.1429	3150.24	41	chr2	21003040	.	C	T	3150.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.73;DP=445;ExcessHet=0.3476;FS=0.451;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.865;SOR=0.66	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1691,0,1528	5	0	2	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	289.31	14	chr2	23864893	.	T	C	289.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.963;DP=233;ExcessHet=2.5225;FS=229.459;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.86;SOR=8.286	GT:AD:DP:GQ:PL	0/1:34,24:58:99:197,0,362	2	0	4	1
chr2	24308752	24308752	T	C	exonic	ITSN2	.	nonsynonymous SNV	ITSN2:NM_001348182:exon8:c.A658G:p.T220A,ITSN2:NM_001348183:exon8:c.A658G:p.T220A,ITSN2:NM_001348185:exon8:c.A658G:p.T220A,ITSN2:NM_001348186:exon8:c.A658G:p.T220A,ITSN2:NM_006277:exon8:c.A658G:p.T220A,ITSN2:NM_019595:exon8:c.A658G:p.T220A,ITSN2:NM_147152:exon8:c.A658G:p.T220A,ITSN2:NM_001348181:exon9:c.A616G:p.T206A,ITSN2:NM_001348184:exon9:c.A616G:p.T206A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.0161325922324	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1398189526	5.618e-06	6.844e-06	3.16e-06	8.155e-06	4.309e-05	2.34e-06	1.5e-06	1.46e-06	1.06e-06	3.846e-05	4.309e-05	0	0	0	0	4.992e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.609	0.47320	T	0.578	0.29249	T	0.752	0.43309	P	0.422	0.45143	B	0.054664	0.22706	U	0.215836	0.822241	0.36910	D	0.755	0.19153	N	0.22	0.59851	T	-1.13	0.37955	N	0.209	0.25499	-0.9268	0.44602	T	0.120	0.41886	T	10	0.17885607	0.32992	T	0.016133	0.37232	T	0.162	0.41843	0.139	0.04277	0.77901915304	0.77698	0.33039768847127277	0.32952	0.404254080729	0.41333	0.500236690044	0.38860	T	0.044926	0.26964	T	-0.0123644	0.49933	T	-0.255537	0.49268	T	0.500206776801355	0.32637	D	0.80112	0.45053	T	0.050516605	0.09138	0.054184582	0.09272	0.050516605	0.09137	0.054184582	0.09272	-3.717	0.19584	T	.	.	0.081	0.08754	B	.;.;.;.;.	.;.;.;.;.	4.216728	0.63743	24.6	0.97685711145873044	0.35341	0.98974	0.89400	D	AEFBI	0.552992	0.56443	D	0.00742829307412371	0.42193	2.537607	0.135350538671423	0.46371	2.884118	0.908161985352494	0.26277	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	4.554000	0.60470	7.877000	0.72286	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.1554:0.8446	11.049	0.47091	424	0.81215	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	252.94	10	chr2	24308752	.	T	C	252.94	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.2;DP=92;ExcessHet=0;FS=3.09;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.99;ReadPosRankSum=2.51;SOR=2.093	GT:AD:DP:GQ:PL	0/1:3,8:11:57:263,0,57	6	0	1	0
chr2	27470935	27470935	G	C	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon16:c.C1685G:p.T562S	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	436	1022	63	1	0	65	0.0308203	.	.	.	451000	not_specified|not_provided|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.159	.	0.0052	0.00279553	0.0072	0.0017	0.0043	0.0001	0.0036	0.0096	0.0139	0.0081	0.0065782	1017	154602	rs61743977	0.0062	0.0062	0.0060	0.0064	0.0378	0.0061	0.0060	0.0336	0.0321	0.0010	0.0046	0.0219	2.533e-05	0.0032	0.0378	0.0060	0.0079	0.0082	0.0049	0.0049	0.0049	0.0049	0.0070	0.0046	0.0045	0.0065	0.0063	0.0010	0	0.0038	0.0196	0	0.0035	0.0612	0.0070	0.0066	0.0064	0.388	0.10909	T	0.14	0.33554	T	0.002	0.09854	B	0.003	0.08700	B	0.000005	0.62929	N	0.108408	0.819621	0.34757	D	0.55	0.14455	N	3.5	0.05014	T	0.26	0.04380	N	0.093	0.07262	-0.8830	0.49521	T	0.007	0.02478	T	10	0.0037594736	0.00070	T	.	.	.	0.159	0.41286	0.406	0.43902	0.112648838833	0.10856	0.1681209475804747	0.16732	0.158194110733	0.17867	0.332134783268	0.15256	T	0.105979	0.41692	T	-0.648558	0.00074	T	-0.699117	0.05874	T	0.0478384942027357	0.05115	T	0.679032	0.28770	T	0.07482146	0.16818	0.11939129	0.28818	0.07310221	0.16309	0.13313392	0.31930	-0.821	0.00821	T	0.05207728016525325	0.00985	0.073	0.04764	B	.	.	2.911773	0.38627	20.8	0.91152418099870303	0.20406	0.99456	0.96256	D	AEFBI	0.880369	0.80696	D	-0.189368090475749	0.33575	1.906461	0.0649026428597816	0.42799	2.595053	0.99999999862882	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.142000	0.93794	9.823000	0.81815	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:0.0:1.0:0.0	17.646	0.88052	72	0.96948	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026714	0.025253	0.024457	0.040936	0.000000	0.034483	0.030675	0.015152	0.07143	1210.44	37	chr2	27470935	.	G	C	1210.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.174;DP=307;ExcessHet=0;FS=2.416;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=1.59;SOR=0.959	GT:AD:DP:GQ:PL	0/1:64,53:117:99:1221,0,1483	6	0	1	0
chr2	30787266	30787266	G	T	exonic	CAPN13	.	nonsynonymous SNV	CAPN13:NM_144575:exon2:c.C60A:p.D20E	.	423	1072	24	3	0	30	0.0137994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	.	0.0008	0.00159744	0.0020	0.0002	0.0005	0.0001	0	0.0009	0.0013	0.0108	0.0014877	230	154602	rs186665118	0.0012	0.0012	0.0009	0.0015	0.0099	0.0012	0.0011	0.0094	0.0091	0.0001	0.0004	0.0038	0	0.0001	0.0057	0.0006	0.0013	0.0099	0.0008	0.0008	0.0007	0.0010	0.0064	0.0007	0.0007	0.0046	0.0040	0.0001	0	0.0008	0.0023	0.0002	9.409e-05	0.0102	0.0009	0.0019	0.0064	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	0.992115	0.41558	D	2.8	0.81625	M	2.27	0.17431	T	-3.52	0.68412	D	0.389	0.43029	-0.9605	0.39087	T	0.123	0.42462	T	10	0.01113826	0.00245	T	.	.	.	0.286	0.60456	0.488	0.57257	0.433600339574	0.42977	0.13155275051212412	0.13080	0.371328992948	0.38632	0.471630513668	0.34905	T	0.137041	0.46976	T	-0.391703	0.02623	T	-0.328181	0.41672	T	0.0686771185556789	0.08464	T	0.665633	0.27494	T	0.68386453	0.77178	0.5323688	0.72979	0.68386453	0.77179	0.5323688	0.72980	-7.263	0.55932	T	.	.	0.51	0.65033	A	.	.	2.903207	0.38485	20.7	0.99652407849805069	0.77380	0.91318	0.53292	D	AEFBI	0.382236	0.46420	N	0.609953128654248	0.73804	6.026306	0.505260276834116	0.68344	5.207073	0.863488335061286	0.25272	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.91	4.09	0.47038	1.732000	0.37769	2.946000	0.35689	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.1434:0.0:0.8566:0.0	8.962	0.35013	814	0.42100	Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.07143	958.44	39	chr2	30787266	.	G	T	958.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.887;DP=342;ExcessHet=0;FS=1.588;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=0.735;SOR=0.765	GT:AD:DP:GQ:PL	0/1:56,47:103:99:969,0,1280	6	0	1	0
chr2	37000618	37000618	G	A	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon33:c.C5513T:p.T1838M	.	425	1089	7	1	0	9	0.00411523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0596738735313	.	0.000599042	0.0002	0	0.0002	0.0001	0.0002	7.492e-05	0	0.0008	0.0001682	26	154602	rs573360324	0.0001	0.0001	8.712e-05	0.0001	0.0050	8.982e-05	8.466e-05	0.0036	0.0031	2.987e-05	8.944e-05	3.826e-05	0.0001	3.744e-05	0.0050	5.126e-05	0.0002	0.0005	0.0001	0.0001	0.0001	9.402e-05	0.0008	6.508e-05	5.32e-05	0.0003	0.0002	4.811e-05	0	0.0002	0	0.0002	0	0	7.351e-05	0.0005	0.0008	0.003	0.68238	D	0.004	0.74150	D	0.988	0.62325	D	0.796	0.58006	P	0.000000	0.84330	D	0.048499	0.999594	0.47742	D	1.87	0.49600	L	-0.11	0.64445	T	-2.4	0.52776	N	0.674	0.68169	-0.6993	0.60472	T	0.295	0.66621	T	10	0.23235238	0.40229	T	0.059674	0.67744	D	0.264	0.57741	0.574	0.69826	0.664534855796	0.66171	0.49783856728581144	0.49704	0.322653114565	0.34449	0.679725587368	0.64229	T	0.219124	0.58204	T	-0.219924	0.18004	T	-0.182597	0.56283	T	0.155099973082542	0.17502	T	0.970603	0.89432	D	0.27708372	0.50767	0.3058479	0.56611	0.27708372	0.50767	0.3058479	0.56610	-5.838	0.44904	T	.	.	0.216	0.44527	B	.	.	5.213600	0.87485	29.3	0.99898289654015038	0.97048	0.84854	0.43946	D	AEFGBHCI	0.639722	0.61767	D	0.530252532175788	0.68889	5.27954	0.555560019934852	0.71786	5.708084	0.999999995716014	0.74766	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.17	5.17	0.70848	7.042000	0.76286	11.652000	0.93894	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.677	0.91494	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.005051	0.001359	0.014620	0.000000	0.017241	0.000000	0.000000	0.07143	1640.45	33	chr2	37000618	.	G	A	1640.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.106;DP=310;ExcessHet=0;FS=7.599;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=1.23;SOR=0.553	GT:AD:DP:GQ:PL	0/1:66,70:136:99:1651,0,1536	6	0	1	0
chr2	38986117	38986117	G	A	exonic	SOS1	.	nonsynonymous SNV	SOS1:NM_001382395:exon22:c.C3664T:p.P1222S,SOS1:NM_001382394:exon23:c.C3688T:p.P1230S,SOS1:NM_005633:exon23:c.C3709T:p.P1237S	Noonan syndrome 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1326360	RASopathy|Fibromatosis,_gingival,_1|Noonan_syndrome_4|SOS1-related_disorder|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0021060,MedGen:C5555857,Orphanet:536391|MONDO:MONDO:0007609,MedGen:C4551558,OMIM:135300,Orphanet:2024|MONDO:MONDO:0012547,MedGen:C1853120,OMIM:610733,Orphanet:648|.|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.439	0.0859586445049	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.057e-05	1.94e-05	3	154602	rs371408734	1.026e-05	1.026e-05	9.53e-06	1.1e-05	3.478e-05	6.16e-06	4.89e-06	9.24e-06	4.56e-06	0	0	0	2.519e-05	0	0	9.893e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.077	0.42436	T	1.0	0.90584	D	0.992	0.80445	D	0.000001	0.84330	D	0.055972	1	0.81001	D	2.215	0.62545	M	-1.04	0.80214	T	-2.83	0.65056	D	0.276	0.42737	0.228	0.86387	D	0.638	0.87329	D	10	0.33585104	0.50735	T	0.085959	0.74639	D	0.439	0.74306	0.398	0.42590	0.672196569589	0.66942	0.30886635935409773	0.30799	0.497842640141	0.48274	0.703750610352	0.67688	T	0.715628	0.91922	D	0.0159148	0.53829	T	-0.033388	0.68144	D	0.574524521827698	0.35408	D	0.933507	0.75104	D	0.39632857	0.60477	0.5935147	0.76407	0.39632857	0.60478	0.5935147	0.76408	-5.216	0.39104	T	0.19121633079870773	0.25080	0.142	0.31906	B	.;.;.	.;.;.	4.678738	0.74854	26.2	0.99806716855781197	0.89085	0.99742	0.99125	D	AEFGBI	0.874732	0.79776	D	0.841923434470571	0.88641	9.656231	0.852901915543806	0.93184	11.87792	0.99999999997398	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	8.812000	0.91581	10.039000	0.83181	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.059	0.97662	459	0.78817	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	973.53	36	chr2	38986117	.	G	A	973.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.78;DP=288;ExcessHet=0;FS=2.65;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.1;ReadPosRankSum=-1.661;SOR=0.99	GT:AD:DP:GQ:PL	0/1:68,39:107:99:984,0,1779	6	0	1	0
chr2	45418513	45418513	C	T	exonic	SRBD1	.	nonsynonymous SNV	SRBD1:NM_018079:exon18:c.G2185A:p.A729T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.566	0.195080443512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.01	0.65728	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.965	0.96539	H	0.08	0.61559	T	-3.43	0.67359	D	0.931	0.93605	0.562	0.91399	D	0.643	0.87520	D	10	0.92438936	0.91789	D	0.19508	0.86400	D	0.566	0.82289	0.744	0.87570	0.898079822721	0.89706	0.9109029769203246	0.91064	0.0989676874833	0.11181	0.761781454086	0.76195	T	0.454079	0.79377	T	0.350467	0.86535	D	0.265645	0.86358	D	0.998533368110657	0.94420	D	0.951905	0.81545	D	0.5530885	0.70127	0.541809	0.73518	0.5530885	0.70128	0.541809	0.73519	-11.625	0.82977	D	.	.	0.668	0.71668	P	.	.	4.992935	0.82791	27.9	0.99930130682373208	0.99334	0.97901	0.77985	D	AEFBI	0.852155	0.76905	D	1.11096722324913	0.98332	17.99381	1.02545686623774	0.99061	20.49055	0.999999999999855	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.96	5.96	0.96695	7.458000	0.79818	7.581000	0.60964	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	20.475	0.99177	927	0.17636	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	662.63	29	chr2	45418513	.	C	T	662.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.34;DP=229;ExcessHet=0;FS=6.124;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.596;SOR=1.66	GT:AD:DP:GQ:PL	0/1:32,24:56:99:673,0,751	6	0	1	0
chr2	48581061	48581061	C	T	exonic	STON1;STON1-GTF2A1L	.	nonsynonymous SNV	STON1-GTF2A1L:NM_001198594:exon1:c.C428T:p.T143I,STON1-GTF2A1L:NM_001198593:exon2:c.C428T:p.T143I,STON1:NM_006873:exon2:c.C428T:p.T143I,STON1-GTF2A1L:NM_172311:exon2:c.C428T:p.T143I,STON1:NM_001198595:exon3:c.C428T:p.T143I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00763137673473	.	.	1.764e-05	9.752e-05	0	0	0	1.544e-05	0	0	1.94e-05	3	154602	rs746337577	2.426e-05	2.463e-05	2.341e-05	2.512e-05	0.0002	1.761e-05	1.559e-05	2.096e-05	1.794e-05	0	0	0	0	0	0.0002	2.897e-05	3.355e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.411e-05	2.18e-06	8.2e-07	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0	0.045	0.41637	D	0.217	0.26145	T	0.001	0.07471	B	0.002	0.06944	B	0.850254	0.08967	N	0.936201	1	0.08975	N	1.555	0.39373	L	2.93	0.09822	T	-0.33	0.15782	N	0.049	0.03613	-0.9556	0.39988	T	0.016	0.06521	T	10	0.058199167	0.06806	T	0.007631	0.20246	T	0.055	0.15663	0.2	0.11384	0.107399877778	0.10242	0.1679726610813738	0.18001	0.00343841262396	0.00292	0.245196819305	0.03278	T	0.010045	0.09105	T	-0.493845	0.00619	T	-0.765004	0.02936	T	0.0220220461816608	0.00912	T	0.494351	0.15306	T	0.022747317	0.00960	0.023890743	0.00402	0.022747317	0.00960	0.023890743	0.00402	-3.328	0.14100	T	0.15654296640258045	0.18841	0.075	0.11654	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.304838	0.06801	3.325	0.86365040904527901	0.16487	0.11897	0.16931	N	AEFDBI	0.069431	0.13743	N	-0.940545815275468	0.09907	0.4709764	-0.945959148556985	0.11017	0.5586724	0.00538924485239635	0.10922	0.732398	0.92422	0	0.610034	0.51514	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.24	0.992	0.18937	0.658000	0.24662	0.568000	0.19578	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.2482:0.4439:0.0:0.3079	3.626	0.07654	527	0.73864	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	3489.44	101	chr2	48581061	.	C	T	3489.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.89;DP=717;ExcessHet=0;FS=2.012;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.746;SOR=0.568	GT:AD:DP:GQ:PL	0/1:129,150:279:99:3500,0,3320	6	0	1	0
chr2	65069530	65069530	G	A	exonic	CEP68	.	nonsynonymous SNV	CEP68:NM_001319100:exon2:c.G86A:p.R29Q,CEP68:NM_001319101:exon2:c.G86A:p.R29Q,CEP68:NM_015147:exon2:c.G86A:p.R29Q	.	415	1106	1	0	0	1	0.000451875	.	.	.	3653014	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00140963247224	.	0.000199681	7.087e-05	9.976e-05	0	0	0	9.366e-05	0.0012	0	5.82e-05	9	154602	rs537480433	4.918e-05	5.13e-05	4.261e-05	5.585e-05	5.72e-05	3.975e-05	3.65e-05	4.569e-05	4.152e-05	0	0	0	2.535e-05	1.896e-05	0	5.72e-05	6.727e-05	2.367e-05	3.939e-05	3.937e-05	0	8.057e-05	5.881e-05	1.714e-05	1.129e-05	1.972e-05	1.125e-05	4.811e-05	0	0	0	0	0	0	5.881e-05	0	0	1.0	0.00964	T	0.878	0.05863	T	0.002	0.09854	B	0.001	0.04355	B	0.861834	0.08889	N	0.926295	1	0.08975	N	-1.585	0.00443	N	2.03	0.20959	T	0.67	0.02263	N	0.044	0.03069	-0.9887	0.32928	T	0.013	0.05177	T	10	0.013709456	0.00290	T	0.00141	0.02088	T	0.019	0.03383	.	.	0.115124310173	0.11017	0.03749887111944987	0.03695	0.0487457149074	0.05327	0.201990574598	0.00517	T	1.56E-4	0.00022	T	-0.55014	0.00291	T	-0.827661	0.01304	T	0.0264595248226571	0.01469	T	0.523348	0.17107	T	0.057118203	0.11327	0.025497925	0.00596	0.057118203	0.11327	0.025497925	0.00596	-3.167	0.12082	T	.	.	0.066	0.02200	B	.;.	.;.	-1.155020	0.00578	0.014	0.66271975951276463	0.08010	0.03049	0.07945	N	AEFBCI	0.022774	0.01181	N	-1.75930660013753	0.00653	0.02814736	-1.78635265682331	0.00804	0.03587849	0.999992960342289	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	3.91	-5.7	0.02226	-1.046000	0.03635	-1.153000	0.06175	-1.766000	0.00670	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3358:0.1221:0.4218:0.1203	2.922	0.05420	905	0.23532	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.07143	644.63	33	chr2	65069530	.	G	A	644.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.185;DP=218;ExcessHet=0;FS=2.512;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.43;ReadPosRankSum=0.259;SOR=1.22	GT:AD:DP:GQ:PL	0/1:22,26:48:99:655,0,517	6	0	1	0
chr2	73081494	73081494	C	T	exonic	RAB11FIP5	.	nonsynonymous SNV	RAB11FIP5:NM_001371272:exon4:c.G1738A:p.A580T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.00011	17	154602	rs537059021	0.0017	0.0014	0.0017	0.0017	0.0019	0.0016	0.0016	0.0018	0.0018	0.0002	0.0007	0	3.757e-05	0.0015	0.0007	0.0019	0.0013	0.0003	0.0013	0.0013	0.0014	0.0012	0.0021	0.0012	0.0011	0.0018	0.0017	0.0005	0	0.0002	0	0	0.0027	0	0.0021	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99689	0.43488	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01375404	0.00291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007789	0.07174	T	.	.	.	.	.	.	.	.	.	0.30107	0.05662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05623	B	.	.	-0.084770	0.03731	0.770	0.75291843848132245	0.11018	0.01744	0.05500	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.998814191445384	0.37733	0.138741	0.03158	2	0.109994	0.03358	0	0.158366	0.03945	2	0.109871	0.03346	0	0.14311	0.26916	4.92	-1.7	0.07721	-0.463000	0.06773	-0.471000	0.08978	-0.140000	0.12423	0.027000	0.20232	0.689000	0.26165	0.762000	0.36218	0.0:0.52:0.133:0.347	5.989	0.18682	579	0.69780	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	51.79	1	chr2	73081494	.	C	T	51.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.98;DP=44;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.4;ReadPosRankSum=-0.366;SOR=1.802	GT:AD:DP:GQ:PL	0/1:5,2:7:61:61,0,110	5	0	1	1
chr2	79027903	79027903	G	A	exonic	REG3G	.	nonsynonymous SNV	REG3G:NM_001270040:exon4:c.G292A:p.G98S,REG3G:NM_001008387:exon5:c.G430A:p.G144S,REG3G:NM_198448:exon5:c.G430A:p.G144S	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00605639622186	0.0008	0.000998403	0.0009	0.0002	0.0003	0	0.0012	0.0012	0.0033	0.0012	0.0009508	147	154602	rs149243674	0.0012	0.0012	0.0012	0.0012	0.0013	0.0012	0.0012	0.0013	0.0013	0.0001	0.0003	7.653e-05	0	0.0020	0.0009	0.0013	0.0012	0.0011	0.0008	0.0008	0.0007	0.0008	0.0012	0.0006	0.0006	0.0010	0.0009	9.633e-05	0	0.0005	0	0	0.0015	0	0.0012	0.0014	0.0008	0.014	0.53172	D	0.084	0.45530	T	0.644	0.40509	P	0.596	0.50617	P	0.002139	0.37183	N	0.122449	1	0.08975	N	2.55	0.74443	M	2.23	0.19311	T	-4.92	0.83224	D	0.315	0.38027	-1.1054	0.03497	T	0.070	0.28577	T	10	0.022979647	0.00588	T	0.006056	0.15816	T	0.036	0.09122	.	.	0.389750110748	0.38591	0.2531217076038667	0.25226	0.0783650798132	0.08816	0.416141748428	0.27305	T	0.026269	0.19473	T	-0.554084	0.00275	T	-0.598759	0.12915	T	0.0881015911426633	0.10990	T	0.758424	0.38228	T	0.21697932	0.44170	0.28478312	0.54478	0.21697932	0.44170	0.28478312	0.54477	-5.01	0.36948	T	.	.	0.246	0.49098	B	.;.;.	.;.;.	2.262385	0.28910	17.95	0.99003895905632622	0.50210	0.07146	0.13171	N	AEFI	0.121472	0.23615	N	-0.19011587455927	0.33546	1.904327	-0.337278258794687	0.26905	1.489242	4.73482427790219E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.73	2.9	0.32809	1.157000	0.31335	0.126000	0.14982	0.676000	0.76740	0.021000	0.19753	0.000000	0.08366	0.011000	0.09372	0.2297:0.0:0.7703:0.0	5.986	0.18666	979	0.04160	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1612.44	36	chr2	79027903	.	G	A	1612.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=318;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.067;SOR=0.676	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1623,0,1566	6	0	1	0
chr2	85369768	85369768	C	T	exonic	ELMOD3	.	stopgain	ELMOD3:NM_001329793:exon6:c.C298T:p.Q100X,ELMOD3:NM_001135023:exon7:c.C298T:p.Q100X,ELMOD3:NM_001329792:exon7:c.C298T:p.Q100X,ELMOD3:NM_001135022:exon8:c.C298T:p.Q100X,ELMOD3:NM_001329791:exon8:c.C298T:p.Q100X,ELMOD3:NM_001135021:exon9:c.C298T:p.Q100X	.	433	1088	1	0	0	1	0.000459348	.	.	.	1291863	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	9.066e-05	0	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs753265000	4.652e-05	4.72e-05	2.314e-05	7.013e-05	0.0008	3.728e-05	3.411e-05	0.0006	0.0006	0	0	0	0	0	0	8.993e-07	0	0.0008	3.285e-05	3.283e-05	0	6.725e-05	0.0010	1.261e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	0.000867	0.41335	D	0.247697	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267033	0.80174	D	0.529014	0.95190	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.	.;.;.;.;High;.;.;.	7.966231	0.97039	36	0.99723778984386746	0.82266	0.63741	0.32184	D	AEFDBCI	0.152568	0.27728	N	0.680733302988458	0.78369	6.857881	0.541855652038885	0.70833	5.563613	0.999999957478922	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.07	4.1	0.47196	0.971000	0.28993	1.685000	0.28035	0.599000	0.40250	0.470000	0.26722	0.953000	0.29079	0.971000	0.54645	0.3375:0.6625:0.0:0.0	13.195	0.59160	893	0.26510	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1440.44	34	chr2	85369768	.	C	T	1440.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.693;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=-0.231;SOR=0.684	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1451,0,1440	6	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	2800.15	163	chr2	94876587	.	C	A	2800.15	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.58;DP=1332;ExcessHet=8.2628;FS=9.57;MLEAC=6;MLEAF=0.429;MQ=57.92;MQRankSum=-15.02;QD=2.14;ReadPosRankSum=-2.425;SOR=1.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,45:230:99:0|1:94876587_C_A:1333,0,7585:94876587	1	0	6	0
chr2	94876599	94876599	C	T	exonic	TEKT4	.	stopgain	TEKT4:NM_001286559:exon6:c.C592T:p.R198X,TEKT4:NM_144705:exon6:c.C1138T:p.R380X	.	433	945	144	0	0	144	0.0707965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	1.007e-05	0	0	0	0	0	0	7.452e-05	1.29e-05	2	154602	rs545808608	1.37e-05	1.573e-05	1.227e-05	1.515e-05	0.0002	8.95e-06	7.27e-06	1.586e-05	9.32e-06	2.988e-05	2.241e-05	0	0	0	0.0002	8.097e-06	6.627e-05	4.654e-05	1.971e-05	1.969e-05	0	4.03e-05	0.0002	5.24e-06	2.45e-06	.	.	2.406e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.450852	0.12509	N	0.736301	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.036	0.01068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471834	0.93405	D	0.439981	0.93322	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.228656	0.96291	35	0.97017541695677512	0.32010	0.24513	0.22417	N	AEFDGBI	0.102425	0.20547	N	0.0223710035112601	0.42872	2.591521	-0.371233761802137	0.25859	1.424696	0.00857241372916873	0.11701	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	-4.85	0.02911	0.076000	0.14570	1.506000	0.26990	0.302000	0.18967	0.898000	0.31380	0.817000	0.27092	0.256000	0.23417	0.7115:0.2885:0.0:0.0	8.126	0.30157	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	595.24	167	chr2	94876599	.	C	T	595.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.64;DP=1477;ExcessHet=0.3476;FS=6.91;MLEAC=2;MLEAF=0.143;MQ=56.66;MQRankSum=-13.35;QD=0.98;ReadPosRankSum=-2.5;SOR=1.337	GT:AD:DP:GQ:PL	0/1:237,41:278:99:396,0,9563	5	0	2	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	11628.6	212	chr2	94876618	.	C	G	11628.6	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.18;DP=1811;ExcessHet=8.2628;FS=2.242;MLEAC=6;MLEAF=0.429;MQ=56.71;MQRankSum=-17.41;QD=6.52;ReadPosRankSum=-2.766;SOR=0.944	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,108:345:99:0|1:94876587_C_A:3821,0,9626:94876587	1	0	6	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.5	15709.3	250	chr2	94876632	.	C	T	15709.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.741;DP=2072;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.5;MQ=56.16;MQRankSum=-18.49;QD=7.88;ReadPosRankSum=-1.33;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,141:391:99:0|1:94876587_C_A:5087,0,10053:94876587	0	0	6	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19027.1	303	chr2	94876671	.	A	G	19027.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.487;DP=2361;ExcessHet=14.2834;FS=1.276;MLEAC=7;MLEAF=0.5;MQ=55.94;MQRankSum=-19.83;QD=8.13;ReadPosRankSum=3.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,168:469:99:0|1:94876671_A_G:6108,0,12014:94876671	0	0	7	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.5	19917.1	303	chr2	94876674	.	G	A	19917.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-6.474;DP=2389;ExcessHet=14.2834;FS=1.269;MLEAC=7;MLEAF=0.5;MQ=55.95;MQRankSum=-19.98;QD=8.45;ReadPosRankSum=4.2;SOR=0.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,168:474:99:0|1:94876671_A_G:6093,0,12127:94876671	0	0	7	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.5	9635.83	294	chr2	94876731	.	C	T	9635.83	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.43;DP=2227;ExcessHet=14.2834;FS=4.237;MLEAC=7;MLEAF=0.5;MQ=56.87;MQRankSum=-19.16;QD=4.43;ReadPosRankSum=-0.606;SOR=1.099	GT:AD:DP:GQ:PL	0/1:334,119:453:99:3159,0,8092	0	0	7	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T,TEKT4:NM_144705:exon6:c.C1276A:p.P426T	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	4870.11	291	chr2	94876737	.	C	A	4870.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.517;DP=1831;ExcessHet=4.7409;FS=2.809;MLEAC=5;MLEAF=0.357;MQ=56.76;MQRankSum=-15.54;QD=2.75;ReadPosRankSum=-2.853;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:380,70:450:99:0|1:94876737_C_A:1792,0,15678:94876737	2	0	5	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P,TEKT4:NM_144705:exon6:c.A1279C:p.T427P	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4868.11	289	chr2	94876740	.	A	C	4868.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.23;DP=1808;ExcessHet=4.7409;FS=2.783;MLEAC=5;MLEAF=0.357;MQ=56.77;MQRankSum=-15.4;QD=2.79;ReadPosRankSum=-3.819;SOR=0.965	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:379,70:449:99:0|1:94876737_C_A:1795,0,15656:94876737	2	0	5	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	8284.69	141	chr2	95855390	.	T	C	8284.69	.	AC=6;AF=0.429;AN=14;BaseQRankSum=4.25;DP=1235;ExcessHet=8.2628;FS=29.175;MLEAC=6;MLEAF=0.429;MQ=55.71;MQRankSum=-10.91;QD=6.99;ReadPosRankSum=-6.806;SOR=2.3	GT:AD:DP:GQ:PL	0/1:196,63:259:99:1349,0,4983	1	0	6	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1192.27	163	chr2	95855406	.	C	G	1192.27	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.639;DP=1446;ExcessHet=2.5225;FS=5.666;MLEAC=4;MLEAF=0.333;MQ=53.72;MQRankSum=-5.908;QD=1.27;ReadPosRankSum=-2.7;SOR=1.302	GT:AD:DP:GQ:PL	0/1:262,31:293:99:174,0,7205	2	0	4	1
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20786.1	211	chr2	95855549	.	T	C	20786.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.376;DP=1851;ExcessHet=14.2834;FS=10.642;MLEAC=7;MLEAF=0.5;MQ=44.24;MQRankSum=-11.95;QD=11.46;ReadPosRankSum=0.027;SOR=1.217	GT:AD:DP:GQ:PL	0/1:179,180:359:99:4002,0,4410	0	0	7	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	16523.5	188	chr2	95855576	.	A	G	16523.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.709;DP=1533;ExcessHet=8.2628;FS=22.634;MLEAC=6;MLEAF=0.429;MQ=45.71;MQRankSum=-11.53;QD=11.19;ReadPosRankSum=-3.191;SOR=1.751	GT:AD:DP:GQ:PL	0/1:172,119:291:99:3598,0,4403	1	0	6	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	3141.13	173	chr2	95855586	.	T	C	3141.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.84;DP=1410;ExcessHet=4.7409;FS=16.271;MLEAC=5;MLEAF=0.357;MQ=46.63;MQRankSum=-6.422;QD=2.72;ReadPosRankSum=-1.556;SOR=1.956	GT:AD:DP:GQ:PL	0/1:213,59:272:99:1066,0,8131	2	0	5	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	12615.5	167	chr2	95855588	.	T	C	12615.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.998;DP=1397;ExcessHet=8.2628;FS=30.104;MLEAC=6;MLEAF=0.429;MQ=46.88;MQRankSum=-10.46;QD=9.41;ReadPosRankSum=-4.329;SOR=2.057	GT:AD:DP:GQ:PL	0/1:163,99:262:99:2898,0,4300	1	0	6	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1478.13	62	chr2	95859895	.	T	C	1478.13	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.162;DP=395;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=58.04;MQRankSum=-1.11;QD=3.84;ReadPosRankSum=0.74;SOR=0.678	GT:AD:DP:GQ:PL	0/1:61,12:73:99:256,0,2485	0	0	7	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5808.1	86	chr2	95859969	.	A	AT	5808.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.067;DP=584;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=59;MQRankSum=-6.302;QD=10.15;ReadPosRankSum=-0.469;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,29:96:99:0|1:95859969_A_AT:1016,0,2726:95859969	0	0	7	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5886.14	87	chr2	95859970	.	G	T	5886.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.463;DP=588;ExcessHet=14.2834;FS=4.534;MLEAC=7;MLEAF=0.5;MQ=58.97;MQRankSum=-6.346;QD=10.22;ReadPosRankSum=-0.399;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,29:96:99:0|1:95859969_A_AT:1016,0,2726:95859969	0	0	7	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	5848.14	86	chr2	95859975	.	C	T	5848.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.675;DP=581;ExcessHet=14.2834;FS=3.611;MLEAC=7;MLEAF=0.5;MQ=58.94;MQRankSum=-6.341;QD=10.17;ReadPosRankSum=-0.758;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,29:96:99:0|1:95859969_A_AT:1016,0,2726:95859969	0	0	7	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4929.98	80	chr2	95859988	.	T	C	4929.98	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.295;DP=563;ExcessHet=14.2834;FS=2.86;MLEAC=7;MLEAF=0.5;MQ=58.91;MQRankSum=-6.506;QD=9;ReadPosRankSum=-0.371;SOR=0.943	GT:AD:DP:GQ:PL	0/1:74,25:99:99:804,0,1896	0	0	7	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2934.14	77	chr2	95860002	.	T	A	2934.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.03;DP=541;ExcessHet=14.2834;FS=3.176;MLEAC=7;MLEAF=0.5;MQ=58.85;MQRankSum=-5.515;QD=5.56;ReadPosRankSum=-0.983;SOR=1.084	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,22:96:99:0|1:95860002_T_A:697,0,2951:95860002	0	0	7	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4227.14	75	chr2	95860007	.	A	T	4227.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.06;DP=520;ExcessHet=14.2834;FS=3.946;MLEAC=7;MLEAF=0.5;MQ=58.83;MQRankSum=-5.622;QD=8.26;ReadPosRankSum=-0.949;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,22:95:99:0|1:95860002_T_A:704,0,2930:95860002	0	0	7	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	3569.07	69	chr2	95860020	.	G	A	3569.07	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.603;DP=481;ExcessHet=14.2834;FS=5.226;MLEAC=6;MLEAF=0.429;MQ=58.68;MQRankSum=-5.391;QD=7.56;ReadPosRankSum=-1.017;SOR=1.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,18:91:99:0|1:95860020_G_A:536,0,2993:95860020	0	0	7	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	3360.29	69	chr2	95860023	.	A	C	3360.29	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.53;DP=471;ExcessHet=8.2628;FS=5.387;MLEAC=6;MLEAF=0.429;MQ=58.66;MQRankSum=-6.123;QD=7.23;ReadPosRankSum=-1.05;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,18:90:99:0|1:95860020_G_A:539,0,2959:95860020	1	0	6	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	2164.34	48	chr2	95860046	.	C	A	2164.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.436;DP=347;ExcessHet=11.5949;FS=9.343;MLEAC=7;MLEAF=0.583;MQ=58.29;MQRankSum=-6.579;QD=6.33;ReadPosRankSum=-0.695;SOR=1.274	GT:AD:DP:GQ:PL	0/1:50,11:61:99:312,0,1445	0	0	6	1
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5378.45	93	chr2	95927222	.	G	GAT	5378.45	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.55;DP=740;ExcessHet=8.2628;FS=47.786;MLEAC=6;MLEAF=0.429;MQ=54.26;MQRankSum=-8.987;QD=7.46;ReadPosRankSum=-3.489;SOR=3.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,30:138:99:0|1:95927222_G_GAT:935,0,4434:95927222	1	0	6	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7647.22	111	chr2	95927226	.	GTT	G	7647.22	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.98;DP=834;ExcessHet=11.5949;FS=15.377;MLEAC=6;MLEAF=0.5;MQ=54.17;MQRankSum=-8.81;QD=9.31;ReadPosRankSum=-4.258;SOR=1.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,41:155:99:0|1:95927222_G_GAT:1378,0,4653:95927222	0	0	6	1
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9881.26	117	chr2	95927234	.	T	C	9881.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.882;DP=933;ExcessHet=11.5949;FS=9.538;MLEAC=6;MLEAF=0.5;MQ=53.98;MQRankSum=-10.25;QD=10.79;ReadPosRankSum=-4.892;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,51:174:99:0|1:95927222_G_GAT:1771,0,5011:95927222	0	0	6	1
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	17795.3	150	chr2	95927252	.	A	G	17795.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.09;DP=1238;ExcessHet=8.2628;FS=0.542;MLEAC=6;MLEAF=0.5;MQ=53.07;MQRankSum=-13.03;QD=14.62;ReadPosRankSum=-4.252;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,83:222:99:0|1:95927222_G_GAT:3067,0,5587:95927222	0	0	6	1
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	24657.3	182	chr2	95927268	.	C	A	24657.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.823;DP=1504;ExcessHet=8.2628;FS=3.23;MLEAC=6;MLEAF=0.5;MQ=52.22;MQRankSum=-14.46;QD=16.66;ReadPosRankSum=-2.383;SOR=0.5	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,114:267:99:0|1:95927222_G_GAT:4255,0,6061:95927222	0	0	6	1
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25059.3	185	chr2	95927277	.	C	T	25059.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-4.406;DP=1568;ExcessHet=8.2628;FS=3.217;MLEAC=6;MLEAF=0.5;MQ=52.16;MQRankSum=-14.78;QD=16.42;ReadPosRankSum=-0.832;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,118:278:99:0|1:95927222_G_GAT:4321,0,6219:95927222	0	0	6	1
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9403.14	109	chr2	95929092	.	T	C	9403.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.46;DP=834;ExcessHet=14.2834;FS=2.733;MLEAC=7;MLEAF=0.5;MQ=47.24;MQRankSum=-7.649;QD=11.37;ReadPosRankSum=-2.432;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,38:156:99:0|1:95929092_T_C:1167,0,4775:95929092	0	0	7	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	10904.1	122	chr2	95929110	.	A	G	10904.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=7.44;DP=933;ExcessHet=14.2834;FS=9.276;MLEAC=7;MLEAF=0.5;MQ=45.86;MQRankSum=-7.496;QD=11.78;ReadPosRankSum=-1.573;SOR=1.331	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,39:171:99:0|1:95929092_T_C:1240,0,5423:95929092	0	0	7	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	14878.1	133	chr2	95929126	.	C	A	14878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.97;DP=1096;ExcessHet=14.2834;FS=16.644;MLEAC=7;MLEAF=0.5;MQ=44.44;MQRankSum=-8.355;QD=13.59;ReadPosRankSum=-0.916;SOR=1.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,58:198:99:0|1:95929092_T_C:2014,0,5704:95929092	0	0	7	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16069.1	136	chr2	95929130	.	G	C	16069.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=5.74;DP=1133;ExcessHet=14.2834;FS=18.396;MLEAC=7;MLEAF=0.5;MQ=43.98;MQRankSum=-8.318;QD=14.18;ReadPosRankSum=-1.245;SOR=1.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,66:210:99:0|1:95929092_T_C:2338,0,5848:95929092	0	0	7	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	16878.1	136	chr2	95929135	.	C	T	16878.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=4.46;DP=1199;ExcessHet=14.2834;FS=19.883;MLEAC=7;MLEAF=0.5;MQ=43.39;MQRankSum=-8.146;QD=14.46;ReadPosRankSum=-1.214;SOR=1.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,69:217:99:0|1:95929092_T_C:2439,0,5960:95929092	0	0	7	0
chr2	96877946	96877946	G	T	exonic	FAM178B	.	nonsynonymous SNV	FAM178B:NM_001172667:exon4:c.C328A:p.L110M,FAM178B:NM_016490:exon4:c.C271A:p.L91M,FAM178B:NM_001122646:exon16:c.C1951A:p.L651M	.	431	1087	4	0	0	4	0.00183655	.	.	.	2373938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.290	0.120034292365	.	0.000199681	0.0001	0	0	0	0	3.059e-05	0	0.0007	9.06e-05	14	154602	rs552281954	5.474e-05	5.472e-05	2.995e-05	7.977e-05	0.0009	4.478e-05	4.148e-05	0.0006	0.0005	0	0	0	0	0	0.0009	7.194e-06	8.28e-05	0.0007	3.281e-05	3.28e-05	5.137e-05	1.342e-05	0.0004	1.26e-05	7.97e-06	7.282e-05	3.026e-05	0	0	0	0	0.0002	0	0	2.939e-05	0	0.0004	0.005	0.65419	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.950386	0.26506	N	.	.	.	-0.09	0.67543	T	-1.87	0.43717	N	0.491	0.52475	-0.4560	0.70201	T	0.461	0.79072	T	9	0.13193017	0.25110	T	0.120034	0.80048	D	0.290	0.60924	.	.	0.507748507896	0.50414	0.33121652795149553	0.33034	0.385509509165	0.39847	0.422740221024	0.28214	T	.	.	.	-0.251698	0.13891	T	-0.21231	0.53473	T	0.398106604814529	0.28871	T	0.687731	0.30552	T	.	.	.	.	.	.	.	.	-6.228	0.48149	T	.	.	0.139	0.34339	B	.;.	.;.	2.895563	0.38363	20.7	0.99563909022103358	0.71953	0.72560	0.35511	D	AEFDBHCIJ	0.441240	0.49947	N	0.324816931444091	0.57425	3.90975	0.268048651721663	0.53683	3.53606	0.999999004128913	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.2	4.33	0.51083	1.463000	0.34887	3.895000	0.40316	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0962:0.0:0.9038:0.0	9.749	0.39633	114	0.95383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1137.83	36	chr2	96877946	.	G	T	1137.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.783;DP=279;ExcessHet=0;FS=0.766;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=-0.433;SOR=0.794	GT:AD:DP:GQ:PL	0/1:45,50:95:99:1148,0,1029	6	0	1	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1449.44	53	chr2	97185336	.	GC	G	1449.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.298;DP=592;ExcessHet=8.2628;FS=4.126;MLEAC=6;MLEAF=0.429;MQ=47.3;MQRankSum=-4.911;QD=2.72;ReadPosRankSum=-0.416;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,11:136:86:0|1:97185336_GC_G:86,0,5213:97185336	1	0	6	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	1427.48	54	chr2	97185340	.	C	G	1427.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.163;DP=596;ExcessHet=8.2628;FS=2.936;MLEAC=6;MLEAF=0.429;MQ=47.07;MQRankSum=-4.73;QD=2.65;ReadPosRankSum=0.212;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,11:138:80:0|1:97185336_GC_G:80,0,5300:97185336	1	0	6	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1421.44	55	chr2	97185341	.	A	AG	1421.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.101;DP=598;ExcessHet=8.2628;FS=2.924;MLEAC=6;MLEAF=0.429;MQ=46.99;MQRankSum=-4.73;QD=2.63;ReadPosRankSum=0.2;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,11:138:80:0|1:97185336_GC_G:80,0,5300:97185336	1	0	6	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1417.44	57	chr2	97185345	.	GTAAT	G	1417.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.295;DP=624;ExcessHet=8.2628;FS=5.664;MLEAC=6;MLEAF=0.429;MQ=46.33;MQRankSum=-4.278;QD=2.5;ReadPosRankSum=0.674;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,11:146:56:0|1:97185336_GC_G:56,0,5621:97185336	1	0	6	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	15899.3	101	chr2	97513220	.	G	A	15899.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.012;DP=819;ExcessHet=11.5949;FS=1.796;MLEAC=7;MLEAF=0.583;MQ=37.36;MQRankSum=-4.104;QD=19.48;ReadPosRankSum=0.6;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,89:191:99:0|1:97513219_T_C:3430,0,4015:97513219	0	0	6	1
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	17092.3	109	chr2	97513227	.	T	C	17092.3	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.344;DP=900;ExcessHet=11.5949;FS=2.51;MLEAC=7;MLEAF=0.583;MQ=37.92;MQRankSum=-4.452;QD=19.58;ReadPosRankSum=1.08;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,96:206:99:0|1:97513219_T_C:3645,0,4330:97513219	0	0	6	1
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	20767.0	120	chr2	97513244	.	G	T	20767.0	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.977;DP=1023;ExcessHet=8.2628;FS=0.524;MLEAC=6;MLEAF=0.429;MQ=38.49;MQRankSum=-5.106;QD=20.34;ReadPosRankSum=0.451;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,115:237:99:0|1:97513244_G_T:4462,0,4733:97513244	1	0	6	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	21976.1	130	chr2	97513253	.	A	G	21976.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.633;DP=1084;ExcessHet=14.2834;FS=1.729;MLEAC=7;MLEAF=0.5;MQ=38.62;MQRankSum=-5.367;QD=20.46;ReadPosRankSum=-0.152;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,120:245:99:0|1:97513244_G_T:4663,0,4867:97513244	0	0	7	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	21979.1	129	chr2	97513254	.	C	T	21979.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.182;DP=1084;ExcessHet=14.2834;FS=1.105;MLEAC=7;MLEAF=0.5;MQ=38.6;MQRankSum=-5.281;QD=20.48;ReadPosRankSum=-0.089;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,120:245:99:0|1:97513244_G_T:4663,0,4867:97513244	0	0	7	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	23134.1	135	chr2	97513268	.	C	T	23134.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.204;DP=1127;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39;MQRankSum=-5.273;QD=20.6;ReadPosRankSum=-0.689;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,131:265:99:0|1:97513268_C_T:5097,0,5218:97513268	0	0	7	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	20800.1	137	chr2	97513270	.	A	C	20800.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.107;DP=1138;ExcessHet=14.2834;FS=1.1;MLEAC=7;MLEAF=0.5;MQ=39.03;MQRankSum=-5.362;QD=18.37;ReadPosRankSum=-0.967;SOR=0.801	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,133:268:99:0|1:97513268_C_T:5143,0,5234:97513268	0	0	7	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	23472.1	137	chr2	97513271	.	T	C	23472.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.301;DP=1143;ExcessHet=14.2834;FS=1.103;MLEAC=7;MLEAF=0.5;MQ=39.04;MQRankSum=-5.362;QD=20.59;ReadPosRankSum=-0.917;SOR=0.786	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,134:269:99:0|1:97513268_C_T:5170,0,5231:97513268	0	0	7	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	23449.1	142	chr2	97513281	.	C	T	23449.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.063;DP=1159;ExcessHet=14.2834;FS=1.102;MLEAC=7;MLEAF=0.5;MQ=39.29;MQRankSum=-5.39;QD=20.41;ReadPosRankSum=-0.462;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,134:270:99:0|1:97513268_C_T:5167,0,5242:97513268	0	0	7	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	4532.09	85	chr2	97513354	.	T	C	4532.09	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.484;DP=650;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=40.44;MQRankSum=-2.424;QD=7.23;ReadPosRankSum=0.855;SOR=0.702	GT:AD:DP:GQ:PL	0/1:81,61:142:99:1446,0,1912	0	0	7	0
chr2	99390610	99390610	G	T	exonic	EIF5B	.	stopgain	EIF5B:NM_015904:exon17:c.G2653T:p.G885X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.893	0.89912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619807	0.98345	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	9.546715	0.99056	41	0.99202385138110349	0.55321	0.98845	0.87614	D	AEFBI	0.319839	0.42312	N	1.19783029022575	0.99530	23.50312	1.058050023666	0.99469	22.96623	0.999999999984001	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.994000	0.87951	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0738:0.0:0.9262:0.0	13.083	0.58534	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	30.44	35	chr2	99390610	.	G	T	30.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.66;DP=304;ExcessHet=0;FS=36.31;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.29;ReadPosRankSum=1.22;SOR=4.8	GT:AD:DP:GQ:PL	0/1:97,7:107:41:41,0,3873	6	0	1	0
chr2	99390613	99390613	G	C	exonic	EIF5B	.	nonsynonymous SNV	EIF5B:NM_015904:exon17:c.G2656C:p.D886H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.833	0.106473041921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.435e-06	0.0001	1.367e-06	5.524e-06	2.712e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.712e-06	3.327e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.99	0.78936	D	.	.	.	.	1	0.81001	D	3.52	0.92970	H	-0.75	0.73311	T	-5.7	0.87380	D	0.776	0.77319	0.562	0.91400	D	0.695	0.89488	D	8	0.95167446	0.94507	D	0.106473	0.78210	D	0.833	0.94728	0.879	0.96784	0.736229469925	0.73387	0.7406881022366005	0.74013	2.20945217804	0.95737	0.828492999077	0.86332	D	0.645905	0.89196	D	0.318573	0.84369	D	0.219832	0.84166	D	0.987848723263907	0.78266	D	0.964404	0.87416	D	0.7238549	0.79376	0.82234377	0.89689	0.7238549	0.79378	0.82234377	0.89690	-12.543	0.87395	D	.	.	0.842	0.79349	P	.;.	.;.	5.505696	0.91630	32	0.9968045988301234	0.79241	0.99418	0.95776	D	AEFBI	0.905087	0.85617	D	0.985501792892842	0.95282	13.47336	0.932565831737932	0.96841	15.21986	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	9.802000	0.98244	11.789000	0.96319	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.811	0.96543	441	0.80015	Translation elongation factor EFTu-like, domain 2;Translation elongation factor EFTu-like, domain 2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	76.22	74	chr2	99390613	.	G	C	76.22	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.658;DP=445;ExcessHet=0;FS=103.167;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.4;SOR=6.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,13:107:86:.:.:86,0,3861:.	5	0	1	1
chr2	107880082	107880082	G	A	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon21:c.G5039A:p.S1680N	.	561	948	13	0	0	13	0.00680985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	.	0.0116	0.0101837	0.0063	0.0234	0.0043	0	0	0.0056	0.0044	0.0058	0.0059831	925	154602	rs149740184	0.0039	0.0039	0.0038	0.0039	0.0232	0.0038	0.0037	0.0218	0.0213	0.0232	0.0055	0.0600	0	3.744e-05	0.0123	0.0019	0.0083	0.0043	0.0096	0.0098	0.0096	0.0096	0.0217	0.0092	0.0090	0.0205	0.0201	0.0217	0.0647	0.0071	0.0586	0	0	0.0136	0.0025	0.0057	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999978	0.18612	N	-1.795	0.00292	N	1.3	0.35590	T	-0.01	0.07155	N	0.227	0.25499	-1.0051	0.28427	T	0.001	0.00287	T	9	0.0024957657	0.00038	T	.	.	.	0.110	0.31079	.	.	0.0401082797425	0.02173	0.10043015754090968	0.09974	.	.	0.623435258865	0.56214	T	0.004012	0.03423	T	-0.667237	0.00057	T	-0.71496	0.05043	T	0.0042505707572721	0.00045	T	0.434357	0.11884	T	0.0537452	0.10214	0.08793742	0.20471	0.0537452	0.10214	0.08793742	0.20471	-0.855	0.00852	T	.	.	0.130	0.27762	B	.	.	1.413550	0.18294	13.66	0.52742819887358072	0.04805	0.01469	0.04901	N	AEFI	0.029382	0.02763	N	-1.2867235420239	0.03834	0.1720009	-1.13356713013068	0.07066	0.3423706	8.78563616993132E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.854	0.854	0.18144	5.145000	0.64681	9.211000	0.79238	-0.526000	0.04970	1.000000	0.71638	1.000000	0.68203	0.295000	0.24381	0.8127:0.0:0.1873:0.0	5.129	0.14233	960	0.08626	GCC2, Rab binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014371	0.021739	0.024862	0.022124	0.000000	0.008929	0.003731	0.000000	0.07143	1902.53	51	chr2	107880082	.	G	A	1902.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.39;DP=407;ExcessHet=0;FS=1.857;MLEAC=1;MLEAF=0.071;MQ=59.44;MQRankSum=-2.285;QD=10.93;ReadPosRankSum=0.647;SOR=0.842	GT:AD:DP:GQ:PL	0/1:89,85:174:99:1913,0,1956	6	0	1	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	6150.48	116	chr2	108259015	.	G	*	6150.48	.	AC=10;AF=0.714;AN=14;DP=903;ExcessHet=0.3476;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;QD=7.4;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,144:144:99:.:.:6481,437,0:.	0	3	4	0
chr2	108930148	108930148	G	A	exonic	EDAR	.	nonsynonymous SNV	EDAR:NM_022336:exon3:c.C146T:p.P49L	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal dominant;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	283532	Hypohidrotic_Ectodermal_Dysplasia,_Dominant|Hypohidrotic_ectodermal_dysplasia|Ectodermal_dysplasia_10A,_hypohidrotic/hair/nail_type,_autosomal_dominant|Autosomal_recessive_hypohidrotic_ectodermal_dysplasia_syndrome|Inborn_genetic_diseases	MedGen:CN239335|Human_Phenotype_Ontology:HP:0007607,MONDO:MONDO:0016535,MedGen:C5848103,Orphanet:238468|MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490,Orphanet:1810,Orphanet:238468|MONDO:MONDO:0016619,MedGen:C0406702,Orphanet:248|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.0442806559777	.	.	0.0001	0	0.0003	0	0	0.0001	0	0.0002	0.00011	17	154602	rs375891208	6.294e-05	6.293e-05	6.263e-05	6.326e-05	0.0005	5.229e-05	4.846e-05	0.0002	0.0002	2.987e-05	0.0004	0	5.039e-05	0	0.0005	5.306e-05	6.624e-05	6.957e-05	7.223e-05	7.218e-05	2.57e-05	0.0001	0.0003	3.969e-05	3.126e-05	8.87e-05	5.281e-05	0	0	0.0003	0	0	0	0	8.821e-05	0	0.0002	0.19	0.21968	T	0.066	0.44501	T	0.133	0.27236	B	0.01	0.14941	B	0.020439	0.27041	N	0.433012	0.783617	0.34298	D	1.245	0.31408	L	-2.59	0.89822	D	-1.79	0.42763	N	0.265	0.30004	-0.6470	0.62844	T	0.347	0.71202	T	10	0.11164886	0.20915	T	0.044281	0.61412	D	0.197	0.47942	0.373	0.38503	0.505701759113	0.50209	0.29420522030721913	0.29333	0.326267788462	0.34779	0.270898252726	0.06258	T	0.37338	0.73739	T	-0.271037	0.11640	T	-0.310946	0.43557	T	0.0330540897336863	0.02480	T	0.759024	0.38847	T	0.02285743	0.00979	0.04673981	0.06580	0.02285743	0.00979	0.04673981	0.06580	-7.782	0.59574	D	0.1498428535926259	0.17555	0.068	0.03887	B	.;.;.	.;.;.	0.913816	0.12881	9.395	0.70123719856671696	0.09193	0.68014	0.33644	D	AEFDBI	0.094344	0.19078	N	-1.16796906238968	0.05490	0.2504367	-1.12475425759214	0.07229	0.3508672	0.117364334611903	0.16799	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	-0.795	0.10364	1.885000	0.39312	1.598000	0.27567	-1.009000	0.01772	1.000000	0.71638	1.000000	0.68203	0.125000	0.19370	0.0885:0.0:0.4255:0.4861	10.322	0.42955	830	0.39242	.;Tumor necrosis factor receptor EDAR, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1615.44	33	chr2	108930148	.	G	A	1615.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=307;ExcessHet=0;FS=5.584;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.675;SOR=1.213	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1626,0,1255	6	0	1	0
chr2	109545510	109545510	A	G	exonic	SEPTIN10	.	nonsynonymous SNV	SEPTIN10:NM_001321498:exon11:c.T1382C:p.I461T	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.010719078116	.	0.000998403	0.0023	0.0018	0	0	0.0069	0.0010	0	0.0022	0.0005692	88	154602	rs191256927	0.0023	0.0022	0.0022	0.0023	0.0024	0.0022	0.0022	0.0023	0.0023	0.0002	0.0004	0	0	0.0072	0.0009	0.0024	0.0018	0.0022	0.0020	0.0020	0.0019	0.0022	0.0026	0.0019	0.0018	0.0023	0.0022	0.0005	0.0011	0.0006	0.0003	0	0.0090	0	0.0026	0.0009	0.0012	0.174	0.22486	T	0.071	0.45744	T	0.023	0.18885	B	0.013	0.16460	B	.	.	.	.	1	0.81001	D	.	.	.	0.51	0.55439	T	-0.11	0.08653	N	0.342	0.38335	-1.0173	0.24592	T	0.085	0.33157	T	8	0.008586526	0.00194	T	0.010719	0.27578	T	0.066	0.19193	.	.	0.599093849917	0.59590	0.061111871119201994	0.06051	.	.	.	.	.	0.008219	0.07558	T	-0.511602	0.00491	T	-0.511649	0.21146	T	0.00741187315589538	0.00085	T	0.547645	0.18800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.31857	B	.;.	.;.	1.659140	0.21158	15.08	0.97948159777949984	0.37078	0.92754	0.56464	D	AEFBI	0.340405	0.43723	N	-0.171515849741293	0.34324	1.957785	-0.0542670925128187	0.37305	2.182543	0.772925367443638	0.23703	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.36	4.13	0.47661	1.857000	0.39038	5.470000	0.48695	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.726000	0.34967	0.8432:0.1568:0.0:0.0	10.824	0.45824	774	0.48577	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1427.45	33	chr2	109545510	.	A	G	1427.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.286;DP=285;ExcessHet=0;FS=1.666;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.423;SOR=0.534	GT:AD:DP:GQ:PL	0/1:42,61:103:99:1438,0,969	6	0	1	0
chr2	112389310	112389310	T	G	exonic	RGPD5;RGPD8	.	nonsynonymous SNV	RGPD8:NM_001164463:exon20:c.A3635C:p.Q1212P,RGPD5:NM_005054:exon20:c.A3635C:p.Q1212P	.	125	1382	15	0	0	15	0.00539763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00558220074463	.	0.000599042	0.0026	0.0004	0.0007	0.0004	0.0005	0.0031	0.0049	0.0053	0.0020763	321	154602	rs542922444	0.0022	0.0022	0.0020	0.0023	0.0073	0.0021	0.0021	0.0052	0.0045	0.0002	0.0013	0.0050	0.0003	0.0004	0.0073	0.0021	0.0031	0.0042	0.0014	0.0015	0.0012	0.0016	0.0028	0.0012	0.0012	0.0022	0.0019	0.0005	0	0.0028	0.0038	0	0.0008	0.0070	0.0016	0.0030	0.0020	0.059	0.37966	T	0.284	0.35710	T	0.725	0.42448	P	0.258	0.39350	B	.	.	.	.	0.643084	0.32894	D	1.79	0.46772	L	1.07	0.39781	T	-2.65	0.56787	D	0.241	0.27197	-1.1110	0.02985	T	0.064	0.26527	T	9	0.0065084994	0.00147	T	0.005582	0.14409	T	0.133	0.36157	.	.	0.0551355673512	0.04727	0.07471785973446747	0.07407	.	.	0.61644756794	0.55226	T	0.017442	0.20717	T	-0.444781	0.01212	T	-0.462115	0.26369	T	0.0541511907940701	0.06215	T	0.917708	0.70434	D	0.39951164	0.60698	0.40196952	0.64693	0.39951164	0.60699	0.40196952	0.64693	-6.958	0.53727	T	.	.	0.145	0.31857	B	.;.	.;.	3.734810	0.53444	23.4	0.89138318660129967	0.18543	0.94121	0.60176	D	AEFI	0.837753	0.75535	D	-0.20777763912326	0.32814	1.854826	-0.217939098067901	0.30893	1.743393	3.24920566252506E-4	0.06540	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.3	2.3	0.27735	5.643000	0.67569	6.147000	0.54138	0.294000	0.18828	1.000000	0.71638	1.000000	0.68203	0.443000	0.27738	0.0:0.0:0.0:1.0	8.205	0.30609	915	0.20917	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003953	0.000000	0.005602	0.000000	0.000000	0.000000	0.003968	0.008929	0.1429	5283.24	35	chr2	112389310	.	T	G	5283.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.845;DP=703;ExcessHet=0.3476;FS=1.78;MLEAC=2;MLEAF=0.143;MQ=36.03;MQRankSum=0.086;QD=9.86;ReadPosRankSum=-0.138;SOR=0.866	GT:AD:DP:GQ:PL	0/1:150,123:273:99:2618,0,3404	5	0	2	0
chr2	127627035	127627035	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon31:c.G4198A:p.A1400T	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.700	0.123231906554	.	.	3.283e-05	0.0002	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs376727312	1.921e-05	1.915e-05	9.553e-06	2.896e-05	0.0002	1.332e-05	1.147e-05	0.0001	8.684e-05	0.0002	4.51e-05	0	0	0	0	6.301e-06	3.326e-05	0.0001	5.914e-05	5.91e-05	1.285e-05	0.0001	0.0002	3.077e-05	2.21e-05	9.567e-05	6.964e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0	0.021	0.49117	D	0.026	0.55759	D	0.997	0.70673	D	0.629	0.51727	P	0.000034	0.55875	D	0.120939	0.996206	0.46608	D	2.93	0.84523	M	-4.04	0.96465	D	-3.68	0.70314	D	0.441	0.60156	0.936	0.96183	D	0.890	0.96338	D	10	0.60983145	0.67381	D	0.123232	0.80436	D	0.700	0.89192	.	.	0.850423276215	0.84898	0.7464228016602249	0.74588	0.261848077399	0.28738	0.421077132225	0.27984	T	0.028992	0.42870	T	0.209715	0.74803	D	0.0634641	0.74474	D	0.965845763683319	0.67394	D	0.913309	0.69109	D	0.25521633	0.48554	0.2385404	0.49179	0.25521633	0.48554	0.2385404	0.49178	-9.864	0.73093	D	.	.	0.136	0.34405	B	.;.;.	.;.;.	4.459606	0.69394	25.4	0.99899843561256441	0.97199	0.96780	0.70900	D	AEFDBI	0.706833	0.66177	D	0.486941796231428	0.66327	4.935792	0.418276241263366	0.62703	4.490344	0.999971006659733	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.88	4.88	0.63131	4.476000	0.59950	9.762000	0.81515	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.200000	0.21896	0.0:0.0:0.8416:0.1584	13.270	0.59587	946	0.12043	FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain;FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1419.83	43	chr2	127627035	.	G	A	1419.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.19;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.967;SOR=0.662	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1430,0,1434	6	0	1	0
chr2	130192015	130192015	C	T	exonic	TUBA3E	.	nonsynonymous SNV	TUBA3E:NM_207312:exon5:c.G1169A:p.R390H	.	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.0520355668385	0.0012	0.00119808	0.0015	0.0007	0.0008	0	0.0011	0.0021	0.0022	0.0008	0.0012872	199	154602	rs142673044	0.0019	0.0019	0.0019	0.0019	0.0078	0.0018	0.0018	0.0060	0.0054	0.0005	0.0007	0.0037	0	0.0013	0.0078	0.0021	0.0020	0.0008	0.0011	0.0011	0.0013	0.0009	0.0018	0.0010	0.0010	0.0016	0.0015	0.0005	0	0.0001	0.0043	0.0004	0.0005	0	0.0018	0.0009	0.0006	.	.	.	0.108	0.37589	T	0.127	0.26966	B	0.118	0.32088	B	0.000132	0.49741	U	0.000000	0.999632	0.47961	D	2.915	0.84231	M	-1.75	0.83495	D	-3.42	0.67241	D	0.743	0.74280	0.187	0.85684	D	0.563	0.84114	D	10	0.047296613	0.04028	T	0.052036	0.64907	D	0.657	0.87135	.	.	0.89226095772	0.89119	0.4417820980022278	0.44095	.	.	0.584975838661	0.50787	T	0.635924	0.88775	D	-0.0973624	0.36862	T	0.0801055	0.75585	D	0.139245137572289	0.16209	T	0.876412	0.58869	D	0.7777611	0.82516	0.45426646	0.68266	0.7777611	0.82518	0.45426646	0.68267	-10.58	0.77305	D	.	.	0.098	0.16231	B	.	.	3.377084	0.46690	22.3	0.98954512059514055	0.49208	0.75489	0.36963	D	AEFGBCI	0.773566	0.70754	D	0.0694160194340757	0.45039	2.767328	0.0842266236580134	0.43755	2.670763	0.997762595797099	0.36002	0.009731	0.00075	3	0.514364	0.08380	0	0.514364	0.09456	0	0.714379	0.83352	0	.	.	2.96	2.96	0.33383	4.422000	0.59604	.	.	0.505000	0.23025	1.000000	0.71638	0.000000	0.08366	0.040000	0.14268	0.0:1.0:0.0:0.0	11.691	0.50780	982	0.03397	Tubulin/FtsZ, 2-layer sandwich domain|Tubulin/FtsZ, 2-layer sandwich domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002643	0.005051	0.000000	0.004098	0.000000	0.000000	0.006098	0.000000	0.1429	2815.25	43	chr2	130192015	.	C	T	2815.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.23;DP=430;ExcessHet=0.3476;FS=0.475;MLEAC=2;MLEAF=0.143;MQ=43.38;MQRankSum=-0.419;QD=11.59;ReadPosRankSum=1.1;SOR=0.747	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1606,0,1348	5	0	2	0
chr2	131480177	131480177	G	A	exonic	TUBA3D	.	nonsynonymous SNV	TUBA3D:NM_080386:exon4:c.G484A:p.G162S	.	31	1432	57	2	0	61	0.0208547	.	.	.	4008681	Keratoconus_9	MONDO:MONDO:0054771,MedGen:C4693660,OMIM:617928	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.372	0.013739532995	.	.	2.472e-05	9.612e-05	0	0	0	1.499e-05	0	6.058e-05	0.0001153	3	26028	rs773370954	5.424e-05	0.0007	4.779e-05	6.076e-05	0.0002	4.426e-05	4.097e-05	6.541e-05	4.469e-05	2.995e-05	4.502e-05	0	0.0002	3.8e-05	0	5.229e-05	4.987e-05	8.182e-05	0.0008	0.0088	0.0007	0.0009	0.0015	0.0007	0.0006	0.0007	0.0006	0.0010	0	0.0008	0	0.0015	0.0008	0	0.0007	0	0.0012	.	.	.	0.091	0.40110	T	.	.	.	.	.	.	0.000245	0.46924	U	0.000000	0.999796	0.49177	D	.	.	.	-0.38	0.69027	T	-4.18	0.75537	D	0.746	0.74553	-0.2061	0.77514	T	0.388	0.74253	T	10	0.7384015	0.74784	D	0.01374	0.33370	T	0.372	0.69102	.	.	0.623070239186	0.62000	0.5752379090799399	0.57452	.	.	0.8098269701	0.83465	D	.	.	.	0.0175173	0.54047	T	-0.212614	0.53445	T	0.334729466173626	0.26414	T	.	.	.	0.075779326	0.17095	0.19444855	0.43068	0.075779326	0.17095	0.19444855	0.43067	-9.435	0.70454	D	.	.	0.400	0.59555	A	.	.	5.110224	0.85422	28.6	0.99004400112898183	0.50231	0.94335	0.60838	D	AEFI	0.783927	0.71476	D	0.195489865158393	0.50981	3.283248	0.123047658734254	0.45732	2.831043	0.895999281917701	0.25967	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.24	2.24	0.27264	8.479000	0.90273	.	.	0.318000	0.19305	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	10.151	0.41966	940	0.13648	Tubulin/FtsZ, GTPase domain|Tubulin/FtsZ, GTPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010053	0.035354	0.000000	0.004098	0.000000	0.000000	0.015244	0.003788	0.1429	526.26	37	chr2	131480177	.	G	A	526.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=7.29;DP=827;ExcessHet=0.3476;FS=50.593;MLEAC=2;MLEAF=0.143;MQ=52.55;MQRankSum=-8.364;QD=1.16;ReadPosRankSum=-0.64;SOR=6.121	GT:AD:DP:GQ:PL	0/1:183,27:210:99:480,0,7052	5	0	2	0
chr2	132783696	132783696	C	A	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.G3115T:p.V1039F	.	403	1118	1	0	0	1	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00779379859795	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1476260067	2.737e-06	2.736e-06	1.362e-06	4.127e-06	2.32e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.995e-07	1.657e-05	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.033	0.53072	D	0.051	0.22415	B	0.037	0.23121	B	0.003599	0.34740	U	0.000000	1	0.81001	D	1.7	0.43825	L	2.78	0.11298	T	-1.81	0.42575	N	0.185	0.22357	-1.0119	0.26322	T	0.019	0.07893	T	10	0.07506096	0.11553	T	0.007794	0.20668	T	0.039	0.10176	0.128	0.03331	0.0675242888579	0.06100	0.24544012818299216	0.24458	0.0495256337794	0.05423	0.276184231043	0.06966	T	0.007736	0.07126	T	-0.294995	0.09140	T	-0.560886	0.16295	T	0.168545439839363	0.18481	T	0.654835	0.26514	T	0.16263454	0.36352	0.13986208	0.33357	0.16263454	0.36352	0.13986208	0.33356	-5.663	0.43363	T	.	.	0.12	0.24767	B	.;.	.;.	2.197053	0.28021	17.66	0.99565872028678237	0.72075	0.81686	0.41040	D	AEFBI	0.323257	0.42551	N	-0.584215687297886	0.19424	1.016468	-0.544219100569335	0.20958	1.131613	4.53093073142233E-4	0.07036	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.41	2.6	0.30173	0.499000	0.22254	.	.	0.597000	0.34315	0.629000	0.27991	0.074000	0.22270	0.522000	0.29520	0.1415:0.5556:0.1512:0.1517	3.056	0.05811	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	554.44	39	chr2	132783696	.	C	A	554.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.926;DP=319;ExcessHet=0;FS=2.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.39;ReadPosRankSum=-0.778;SOR=0.455	GT:AD:DP:GQ:PL	0/1:46,29:75:99:565,0,1370	6	0	1	0
chr2	148469973	148469973	G	A	exonic	MBD5	.	nonsynonymous SNV	MBD5:NM_001378120:exon8:c.G2030A:p.S677N,MBD5:NM_018328:exon9:c.G2030A:p.S677N	Mental retardation, autosomal dominant 1, Autosomal dominant	0	1495	26	1	0	28	0.00927767	.	.	.	101795	MBD5-related_disorder|Intellectual_disability,_autosomal_dominant_1|not_provided|not_specified|Inborn_genetic_diseases	.|MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.119	0.00410334789892	0.0019	0.00119808	0.0025	0.0002	0.0012	0	0	0.0038	0.0022	0.0019	0.0024256	375	154602	rs114314967	0.0024	0.0024	0.0023	0.0025	0.0104	0.0023	0.0023	0.0083	0.0075	0.0011	0.0020	0.0068	0	0.0001	0.0104	0.0025	0.0038	0.0020	0.0020	0.0020	0.0020	0.0020	0.0035	0.0018	0.0018	0.0027	0.0025	0.0005	0	0.0035	0.0058	0.0002	0.0003	0.0102	0.0028	0.0033	0.0015	0.148	0.28646	T	0.169	0.41239	T	0.0	0.02946	B	0.001	0.04355	B	0.000002	0.62929	D	0.000000	0.617948	0.32679	D	0.6	0.15550	N	0.86	0.46777	T	0.07	0.10136	N	0.311	0.35088	-0.9499	0.40989	T	0.075	0.30335	T	10	0.0047388375	0.00100	T	0.004103	0.09806	T	0.119	0.33137	.	.	0.19168177325	0.18762	0.20758363706956462	0.20674	0.293955471795	0.31813	0.565779864788	0.48082	T	0.024192	0.18324	T	-0.567563	0.00229	T	-0.590777	0.13599	T	0.0270134883176679	0.01546	T	0.733327	0.34901	T	0.12704937	0.29742	0.17002958	0.39082	0.13623318	0.31589	0.21187843	0.45634	-4.148	0.26141	T	0.08610446324125656	0.04923	0.085	0.18247	B	.;.;.;.;.	.;.;.;.;.	2.897324	0.38389	20.7	0.98803831867061409	0.46493	0.97942	0.78303	D	AEFBI	0.597473	0.59124	D	0.137082179098255	0.48200	3.035	0.248262487314622	0.52551	3.429194	0.998462503486971	0.37014	0.566229	0.32551	0	0.653731	0.59785	0	0.653264	0.51672	0	0.674467	0.66132	0	.	.	4.84	3.96	0.45097	6.801000	0.74958	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.082:0.0:0.918:0.0	11.699	0.50822	601	0.67921	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.025253	0.016304	0.008772	0.000000	0.008621	0.018293	0.007576	0.07143	2035.44	35	chr2	148469973	.	G	A	2035.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.095;DP=338;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.402;SOR=0.71	GT:AD:DP:GQ:PL	0/1:75,78:153:99:2046,0,2084	6	0	1	0
chr2	156571231	156571231	C	T	exonic	GPD2	.	nonsynonymous SNV	GPD2:NM_000408:exon13:c.C1706T:p.A569V,GPD2:NM_001083112:exon13:c.C1706T:p.A569V	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.014005459095	0.0002	.	0.0002	0.0002	0.0003	0	0	0.0003	0	0	0.0001552	24	154602	rs143509883	0.0001	0.0001	0.0001	0.0001	0.0014	9.102e-05	8.608e-05	0.0007	0.0005	8.973e-05	0.0003	0	0	0	0.0014	9.905e-05	0.0002	5.799e-05	0.0001	0.0001	0.0002	9.402e-05	0.0002	8.166e-05	6.722e-05	0.0001	0.0001	2.406e-05	0	6.546e-05	0	0	0	0.0034	0.0002	0	0	0.107	0.29554	T	0.293	0.22694	T	0.019	0.17989	B	0.036	0.22909	B	0.000000	0.84330	D	0.044858	1	0.81001	D	2.345	0.67358	M	1.0	0.41392	T	-2.71	0.57762	D	0.776	0.77789	-0.9886	0.32953	T	0.149	0.47575	T	10	0.46924427	0.59761	T	0.014005	0.33833	T	0.274	0.59007	.	.	0.518531843619	0.51497	0.7676859536522614	0.76717	0.264892400789	0.29045	0.800108850002	0.81978	T	0.379409	0.74216	T	-0.0362237	0.46508	T	0.006383	0.70749	D	0.187945380806923	0.19722	T	0.984602	0.94707	D	0.38741496	0.59848	0.42022732	0.65992	0.3766583	0.59074	0.4235512	0.66222	-7.747	0.59334	D	.	.	0.456	0.67677	A	.;.;.;.	.;.;.;.	3.588610	0.50628	23.0	0.99803535043791203	0.88817	0.98547	0.83953	D	AEFBI	0.893394	0.83130	D	0.281829447168909	0.55227	3.686934	0.462018140112217	0.65492	4.830694	0.999999999994756	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	6.06	6.06	0.98340	7.818000	0.84740	7.675000	0.64997	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	20.640	0.99540	871	0.31377	Alpha-glycerophosphate oxidase, C-terminal;Alpha-glycerophosphate oxidase, C-terminal;Alpha-glycerophosphate oxidase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	716.63	30	chr2	156571231	.	C	T	716.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.718;DP=241;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.242;SOR=0.756	GT:AD:DP:GQ:PL	0/1:34,33:67:99:727,0,837	6	0	1	0
chr2	166204084	166204084	A	G	exonic	SCN9A	.	nonsynonymous SNV	SCN9A:NM_001365536:exon26:c.T4645C:p.W1549R,SCN9A:NM_002977:exon26:c.T4612C:p.W1538R	Epilepsy, generalized, with febrile seizures plus, type 7, Autosomal dominant;Erythermalgia, primary, Autosomal dominant;Febrile seizures, familial, 3B, Autosomal dominant;HSAN2D, autosomal recessive, Autosomal recessive;Insensitivity to pain, congenital, Autosomal recessive;Paroxysmal extreme pain disorder,, Autosomal dominant;Small fiber neuropathy, Autosomal dominant	7	1506	9	0	0	9	0.00297915	.	.	.	231504	Inborn_genetic_diseases|Primary_erythromelalgia|Channelopathy-associated_congenital_insensitivity_to_pain,_autosomal_recessive|Paroxysmal_extreme_pain_disorder|not_provided|SCN9A-related_disorder|not_specified|Generalized_epilepsy_with_febrile_seizures_plus,_type_7|Neuropathy,_hereditary_sensory_and_autonomic,_type_2A	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007571,MedGen:C0014805,OMIM:133020,Orphanet:306577,Orphanet:90026|MONDO:MONDO:0009459,MedGen:C1855739,OMIM:243000,Orphanet:88642,Orphanet:970|MONDO:MONDO:0008179,MedGen:C1833661,OMIM:167400,Orphanet:46348|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0013470,MedGen:C2751778,OMIM:613863,Orphanet:36387|MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.633	0.124337804745	0.0023	0.000599042	0.0021	0.0002	0.0020	0.0001	0	0.0019	0.0011	0.0060	0.0019469	301	154602	rs202084411	0.0024	0.0024	0.0022	0.0026	0.0057	0.0024	0.0023	0.0053	0.0051	0.0004	0.0015	0.0014	2.526e-05	0.0002	0.0026	0.0025	0.0024	0.0057	0.0019	0.0019	0.0019	0.0019	0.0054	0.0017	0.0016	0.0038	0.0032	0.0004	0	0.0010	0.0014	0	0.0003	0.0068	0.0031	0.0024	0.0054	0.916	0.02332	T	0.36	0.16964	T	.	.	.	.	.	.	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	0.81	0.20779	L	-4.93	0.98390	D	-3.68	0.70314	D	0.825	0.84505	0.437	0.89648	D	0.791	0.92920	D	10	0.015026212	0.00315	T	0.124338	0.80566	D	0.633	0.85924	0.648	0.78542	0.720224912349	0.71775	0.7174858508817855	0.71691	0.241215560065	0.26645	0.744670212269	0.73660	T	0.724213	0.92229	D	0.115727	0.65940	D	0.394962	0.91947	D	0.0217969748431823	0.00885	T	0.611839	0.23533	T	0.6030176	0.72853	0.5107299	0.71726	0.7827075	0.82822	0.5791294	0.75610	-4.523	0.31188	T	0.16228039651854312	0.19923	0.332	0.58334	B	.;.;.;.;.;.	.;.;.;.;.;.	2.526025	0.32649	19.11	0.79483268267518548	0.12762	0.94642	0.61835	D	AEFGBI	0.656645	0.62856	D	-0.553708862505648	0.20368	1.073169	-0.387913692498001	0.25355	1.393937	0.999517065783653	0.40117	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.47	4.47	0.53770	4.175000	0.58057	3.618000	0.39276	0.756000	0.94297	1.000000	0.71638	0.991000	0.31484	0.785000	0.37106	1.0:0.0:0.0:0.0	14.060	0.64316	340	0.86005	.;Ion transport domain;.;Ion transport domain;Ion transport domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006546	0.010101	0.004076	0.002924	0.000000	0.008621	0.000000	0.015152	0.07143	663.49	35	chr2	166204084	.	A	G	663.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.517;DP=260;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.99;ReadPosRankSum=1.09;SOR=0.671	GT:AD:DP:GQ:PL	0/1:48,35:83:99:674,0,1154	6	0	1	0
chr2	178722029	178722029	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon75:c.G18902A:p.R6301Q,TTN:NM_001256850:exon76:c.G21683A:p.R7228Q,TTN:NM_001267550:exon78:c.G22634A:p.R7545Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	YES	55868	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_provided|Tibial_muscular_dystrophy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.212	0.0116915352262	0.0030	0.000199681	0.0020	0.0012	0.0006	0	0.0005	0.0030	0.0056	0.0009	0.0018952	293	154602	rs72648969	0.0032	0.0032	0.0033	0.0030	0.0034	0.0031	0.0030	0.0033	0.0033	0.0005	0.0006	0.0144	2.52e-05	0.0007	0	0.0034	0.0039	0.0013	0.0019	0.0019	0.0019	0.0019	0.0030	0.0017	0.0017	0.0027	0.0025	0.0005	0	0.0008	0.0112	0	0.0002	0	0.0030	0.0019	0.0014	0.389	0.10874	T	.	.	.	0.91	0.50240	P	0.203	0.37000	B	.	.	.	.	0.999996	0.58761	D	.	.	.	-0.18	0.65747	T	-1.56	0.37759	N	0.35	0.43514	-0.9174	0.45904	T	0.112	0.40029	T	9	0.0066078007	0.00150	T	0.011692	0.29566	T	0.212	0.50341	.	.	0.170165803431	0.16609	.	.	0.15309083238	0.17276	0.379114866257	0.22131	T	.	.	.	-0.353465	0.04513	T	-0.281343	0.46666	T	0.0103780768956334	0.00142	T	0.745225	0.41282	T	.	.	.	.	.	.	.	.	-2.477	0.06315	T	.	.	0.093	0.13830	B	.;.;.;.	.;.;.;.	3.421265	0.47502	22.5	0.9726883317865942	0.33126	0.11764	0.16847	N	AEFBI	0.151890	0.27646	N	0.115154905156839	0.47168	2.946465	0.210974272542622	0.50456	3.237434	0.928290240603696	0.26923	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	1.274000	0.32736	.	.	0.599000	0.40250	0.048000	0.21332	1.000000	0.68203	0.979000	0.57723	0.0:0.7349:0.1342:0.1309	8.324	0.31306	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.07143	1931.44	33	chr2	178722029	.	C	T	1931.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=358;ExcessHet=0;FS=1.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-1.52;SOR=0.828	GT:AD:DP:GQ:PL	0/1:98,77:175:99:1942,0,2379	6	0	1	0
chr2	178776739	178776739	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon27:c.C4987G:p.L1663V,TTN:NM_133432:exon27:c.C4987G:p.L1663V,TTN:NM_133437:exon27:c.C4987G:p.L1663V,TTN:NM_001256850:exon28:c.C5125G:p.L1709V,TTN:NM_001267550:exon28:c.C5125G:p.L1709V,TTN:NM_133378:exon28:c.C5125G:p.L1709V,TTN:NM_133379:exon28:c.C5125G:p.L1709V	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0147726489888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.56456	D	0.0	0.92824	D	0.999	0.90584	D	0.998	0.88582	D	.	.	.	.	0.989898	0.41045	D	.	.	.	-0.66	0.72348	T	-2.23	0.58896	N	0.345	0.64052	0.020	0.82663	D	0.536	0.82820	D	9	0.36435875	0.52983	T	0.014773	0.35101	T	0.414	0.72479	0.465	0.53566	0.662473173981	0.65964	.	.	0.465770963553	0.46000	0.717854857445	0.69733	T	.	.	.	-0.0103844	0.50212	T	-0.252693	0.49552	T	0.333222288417017	0.26354	T	0.916808	0.71149	D	.	.	.	.	.	.	.	.	-8.213	0.66927	D	.	.	0.608	0.69190	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.539940	0.49714	22.8	0.88723039728343223	0.18203	0.98108	0.79665	D	AEFBI	0.903450	0.85255	D	0.794725804563912	0.85775	8.677712	0.768167274864971	0.87509	9.246127	0.999999279517527	0.74766	0.516011	0.20929	0	0.546412	0.12157	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.34	5.34	0.75982	6.709000	0.74487	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	19.049	0.93018	345	0.85689	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	122.72	34	chr2	178776739	.	G	C	122.72	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.384;DP=441;ExcessHet=1.383;FS=157.805;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.69;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,16:112:39:0|1:178776739_G_C:39,0,3437:178776739	3	0	3	1
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	384.26	23	chr2	186504215	.	G	C	384.26	.	AC=4;AF=0.4;AN=10;BaseQRankSum=0.85;DP=183;ExcessHet=4.1913;FS=59.582;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=1.3;SOR=6.375	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,21:40:99:.:.:164,0,176:.	1	0	4	2
chr2	190962957	190962957	G	A	exonic	GLS	.	nonsynonymous SNV	GLS:NM_014905:exon18:c.G1981A:p.V661I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0057781645295	.	.	2.512e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs762250183	1.923e-05	2.326e-05	1.367e-05	2.485e-05	0.0003	1.334e-05	1.148e-05	0.0001	0.0001	0	0	0	0.0003	0	0	9.009e-06	0	9.387e-05	3.287e-05	3.284e-05	3.856e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0.0002	0	0	5.881e-05	0	0	0.115	0.28520	T	0.247	0.23914	T	0.659	0.40886	P	0.036	0.22909	B	0.000782	0.41772	D	0.105638	0.913517	0.36475	D	0.69	0.16971	N	0.99	0.51228	T	-0.14	0.09627	N	0.195	0.27316	-1.0593	0.11931	T	0.078	0.31224	T	10	0.13693163	0.26049	T	0.005778	0.15012	T	0.140	0.37593	0.255	0.19533	0.502269707691	0.49865	0.32733523074318444	0.32646	0.276653511675	0.30133	0.462568581104	0.33663	T	0.03411	0.23189	T	-0.204163	0.20205	T	-0.282733	0.46524	T	0.179222301626891	0.19186	T	0.79692	0.47426	T	0.10070523	0.23781	0.07718694	0.17170	0.10070523	0.23781	0.07718694	0.17170	-3.778	0.20476	T	.	.	0.080	0.07841	B	.;.	.;.	4.201188	0.63402	24.6	0.99124279710511742	0.53089	0.99347	0.94827	D	AEFGBHCI	0.792866	0.72104	D	0.271926755074032	0.54731	3.637984	0.43120674290568	0.63519	4.587222	0.999999999938525	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.34	5.34	0.75982	8.674000	0.90922	11.876000	0.98705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.226	0.93805	810	0.42761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1459.44	33	chr2	190962957	.	G	A	1459.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.055;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.358;SOR=0.738	GT:AD:DP:GQ:PL	0/1:39,63:102:99:1470,0,763	6	0	1	0
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	722.27	43	chr2	197523648	.	T	C	722.27	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.41;DP=335;ExcessHet=11.5949;FS=543.859;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=2.18;ReadPosRankSum=1.46;SOR=9.507	GT:AD:DP:GQ:PL	0/1:63,28:91:99:163,0,994	0	0	6	1
chr2	202952598	202952598	C	T	exonic	CARF	.	nonsynonymous SNV	CARF:NM_001282912:exon3:c.C82T:p.R28C,CARF:NM_001282910:exon4:c.C118T:p.R40C,CARF:NM_001322429:exon4:c.C310T:p.R104C,CARF:NM_001352677:exon4:c.C40T:p.R14C,CARF:NM_001104586:exon5:c.C346T:p.R116C,CARF:NM_001282911:exon5:c.C118T:p.R40C,CARF:NM_001322428:exon5:c.C346T:p.R116C,CARF:NM_001322427:exon6:c.C346T:p.R116C,CARF:NM_024744:exon6:c.C346T:p.R116C	.	441	1070	11	0	0	11	0.0051139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.0109573943316	0.0003	0.000199681	0.0005	0.0002	0.0015	0	0	0.0003	0.0022	0.0008	0.0004463	69	154602	rs192573972	0.0003	0.0003	0.0003	0.0003	0.0168	0.0003	0.0003	0.0141	0.0131	0.0004	0.0015	0	0	0	0.0168	0.0001	0.0005	0.0008	0.0004	0.0004	0.0004	0.0004	0.0016	0.0003	0.0003	0.0011	0.0010	0	0.0055	0.0016	0	0	0	0.0136	0.0002	0.0019	0.0008	0.011	0.72154	D	0.039	0.79402	D	0.995	0.73220	D	0.648	0.55529	P	0.050544	0.23060	N	0.366056	0.94809	0.39125	D	1.95	0.52479	M	.	.	.	-1.34	0.78891	N	0.463	0.58713	-0.2644	0.75967	T	0.353	0.71681	T	9	0.020588279	0.00477	T	0.010957	0.28083	T	0.194	0.47447	.	.	0.273503213844	0.26977	0.42086041258074336	0.42002	0.741878754513	0.63308	0.21025967598	0.00822	T	0.183861	0.53634	T	-0.268994	0.11869	T	-0.20472	0.54200	T	0.0734380806585915	0.09126	T	0.953805	0.83996	D	0.14000247	0.32318	0.08636636	0.20004	0.14000247	0.32317	0.08636636	0.20003	-7.341	0.56487	T	.	.	0.103	0.38080	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.008320	0.83146	28.0	0.99912041254882966	0.98095	0.90417	0.51576	D	AEFI	0.604286	0.59544	D	0.54030736074692	0.69492	5.364863	0.557127502577207	0.71893	5.724977	0.997466032780412	0.35646	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.46	5.46	0.80021	3.003000	0.49192	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.287	0.90059	505	0.75648	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012085	0.000000	0.016304	0.026316	0.000000	0.034483	0.000000	0.000000	0.07143	737.63	33	chr2	202952598	.	C	T	737.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.36;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.979;SOR=0.641	GT:AD:DP:GQ:PL	0/1:34,33:67:99:748,0,671	6	0	1	0
chr2	205401024	205401024	A	G	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon18:c.A2435G:p.K812R,PARD3B:NM_152526:exon18:c.A2456G:p.K819R,PARD3B:NM_001302769:exon19:c.A2642G:p.K881R,PARD3B:NM_205863:exon19:c.A2642G:p.K881R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0147362471348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1159173231	7.61e-06	8.209e-06	8.231e-06	6.978e-06	0.0016	4.08e-06	2.99e-06	0.0008	0.0006	0	0	0	0	0	0.0016	0	3.335e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.21385	T	0.397	0.19131	T	0.997	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	0.627757	0.35566	D	2.67	0.78151	M	1.31	0.35405	T	-0.49	0.17417	N	0.247	0.28849	-0.5377	0.67251	T	0.200	0.55667	T	10	0.23977852	0.41124	T	0.014736	0.35052	T	0.102	0.29158	0.264	0.20946	0.675459934904	0.67270	0.036085109179377725	0.03555	0.17661787198	0.19876	0.511968076229	0.40498	T	0.024778	0.26443	T	-0.0962828	0.37041	T	-0.37608	0.36179	T	0.787106335163116	0.45501	D	0.838916	0.57764	T	0.17971659	0.39056	0.14941572	0.35280	0.17971659	0.39056	0.14941572	0.35279	-5.876	0.46546	T	.	.	0.085	0.20196	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.054414	0.60118	24.2	0.99756772503418789	0.84694	0.93924	0.59587	D	AEFDI	0.513394	0.54121	D	0.569030307686825	0.71249	5.622129	0.529314811013291	0.69971	5.437131	0.999999588428724	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.45	5.45	0.79688	3.081000	0.49818	11.173000	0.88038	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	1.0:0.0:0.0:0.0	14.043	0.64210	896	0.25515	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.005051	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	667.63	33	chr2	205401024	.	A	G	667.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.534;DP=219;ExcessHet=0;FS=2.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.14;SOR=0.402	GT:AD:DP:GQ:PL	0/1:31,27:58:99:678,0,752	6	0	1	0
chr2	215018025	215018025	G	T	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_015657:exon6:c.C811A:p.P271T,ABCA12:NM_173076:exon14:c.C1765A:p.P589T	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	250556	not_provided|Autosomal_recessive_congenital_ichthyosis_4B|Autosomal_recessive_congenital_ichthyosis_4A|Congenital_ichthyosis_of_skin|not_specified	MedGen:C3661900|MONDO:MONDO:0009443,MedGen:C0598226,OMIM:242500,Orphanet:457|MONDO:MONDO:0011026,MedGen:C1832550,OMIM:601277,Orphanet:313|MedGen:C0020758|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.307	.	0.0075	0.00419329	0.0068	0.0019	0.0095	0	0.0017	0.0100	0.0121	0.0007	0.0070762	1094	154602	rs148979792	0.0093	0.0093	0.0096	0.0089	0.0116	0.0091	0.0091	0.0108	0.0107	0.0016	0.0116	0.0033	2.52e-05	0.0019	0.0052	0.0110	0.0085	0.0005	0.0069	0.0069	0.0073	0.0065	0.0127	0.0066	0.0064	0.0112	0.0107	0.0021	0	0.0127	0.0043	0	0.0013	0	0.0105	0.0132	0.0006	0.025	0.47320	D	0.004	0.74150	D	0.839	0.46454	P	0.512	0.47969	P	0.738733	0.09794	N	0.882153	0.568924	0.32277	D	1.955	0.52871	M	-2.59	0.89822	D	-2.2	0.49519	N	0.598	0.65501	-0.3044	0.74862	T	0.494	0.80830	T	10	0.006954968	0.00158	T	.	.	.	0.307	0.62838	.	.	0.780239366481	0.77821	0.5202309027907359	0.51946	0.24047698709	0.26590	0.445027291775	0.31265	T	0.289949	0.66273	T	-0.306198	0.08087	T	-0.201577	0.54496	T	0.0356153701561596	0.02913	T	0.782722	0.41876	T	0.12582459	0.29488	0.14220306	0.33838	0.1525399	0.34622	0.13563538	0.32468	-3.836	0.21343	T	0.17290695002865486	0.21877	0.161	0.35498	B	.;.	.;.	3.728732	0.53327	23.3	0.98934128284842093	0.48807	0.96176	0.67882	D	AEFBI	0.343512	0.43930	N	-0.0636573217432459	0.38995	2.292548	-0.0453801429324668	0.37692	2.210293	0.999944509891144	0.47345	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.92	5.05	0.67566	4.559000	0.60505	8.692000	0.78080	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	0.0746:0.0:0.9254:0.0	13.106	0.58661	877	0.30165	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005035	0.020202	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	688.44	34	chr2	215018025	.	G	T	688.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.087;DP=264;ExcessHet=0;FS=0.815;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=2.7;SOR=0.818	GT:AD:DP:GQ:PL	0/1:55,34:89:99:699,0,1289	6	0	1	0
chr2	218394133	218394133	T	C	exonic	SLC11A1	.	nonsynonymous SNV	SLC11A1:NM_000578:exon13:c.T1328C:p.V443A	.	414	1080	27	1	0	29	0.0132481	.	.	.	708030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.172	.	0.0075	0.00698882	0.0085	0.0020	0.0058	0.0050	0.0049	0.0108	0.0099	0.0083	0.0085251	1318	154602	rs17215556	0.0094	0.0094	0.0093	0.0094	0.0106	0.0092	0.0092	0.0104	0.0104	0.0011	0.0058	0.0002	0.0032	0.0054	0.0090	0.0106	0.0076	0.0077	0.0071	0.0071	0.0076	0.0065	0.0110	0.0067	0.0066	0.0103	0.0101	0.0020	0	0.0088	0	0.0033	0.0037	0.0068	0.0110	0.0080	0.0068	0.121	0.27783	T	0.122	0.35710	T	0.008	0.14655	B	0.088	0.29688	B	0.003390	0.35013	N	0.198663	0.99986	0.50061	D	2.135	0.59519	M	-0.52	0.70717	T	-1.36	0.33798	N	0.658	0.66787	-0.7510	0.57883	T	0.196	0.55056	T	10	0.013764232	0.00291	T	.	.	.	0.172	0.43662	.	.	0.79161799632	0.78968	0.5413373954947179	0.54058	0.566308058926	0.52931	0.53330373764	0.43500	T	0.351936	0.71944	T	-0.397229	0.02414	T	-0.333974	0.41026	T	0.0189439310259744	0.00604	T	0.514149	0.16548	T	0.20398343	0.42493	0.18141866	0.41004	0.20398343	0.42493	0.18141866	0.41003	-6.288	0.48627	T	.	.	0.405	0.59854	A	.	.	3.573429	0.50344	22.9	0.98931554381899145	0.48750	0.91526	0.53715	D	AEFDGBHCI	0.792517	0.72079	D	-0.0848950177941772	0.38055	2.223034	0.0591517357268589	0.42515	2.572918	1.0	0.98316	0.616025	0.39624	0	0.574621	0.32753	0	0.607795	0.38427	0	0.604944	0.38103	0	.	.	4.86	4.86	0.62624	5.829000	0.69007	6.049000	0.53076	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.571000	0.30675	0.0:0.0:0.0:1.0	14.312	0.65975	936	0.14734	.	.	.	.	.	rs17215556	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005051	0.001359	0.002924	0.000000	0.000000	0.015244	0.003788	0.07143	1856.44	33	chr2	218394133	.	T	C	1856.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.094;DP=329;ExcessHet=0;FS=0.626;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.051;SOR=0.788	GT:AD:DP:GQ:PL	0/1:64,79:143:99:1867,0,1488	6	0	1	0
chr2	218436510	218436510	C	T	exonic	VIL1	.	nonsynonymous SNV	VIL1:NM_007127:exon16:c.C1855T:p.P619S	Cholestasis, progressive canalicular (1)	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371	0.0102555276577	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1309181096	2.052e-06	2.052e-06	1.361e-06	2.75e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.40573	T	0.027	0.55341	D	0.796	0.44790	P	0.248	0.38946	B	0.000001	0.84330	D	0.000000	1	0.81001	D	3.145	0.88303	M	0.93	0.44065	T	-6.73	0.92605	D	0.84	0.83576	-0.8231	0.53739	T	0.138	0.45583	T	10	0.81873965	0.81092	D	0.010256	0.26588	T	0.371	0.69016	0.725	0.85937	0.783190788101	0.78118	0.8547116754383107	0.85434	0.375697654196	0.39028	0.459071397781	0.33182	T	0.702612	0.91450	D	0.182417	0.72264	D	0.0397387	0.72910	D	0.893590807914734	0.54483	D	0.865613	0.57225	D	0.6567731	0.75726	0.38663673	0.63551	0.6567731	0.75727	0.38663673	0.63551	-8.747	0.66053	D	.	.	0.170	0.53269	B	.;.;.	.;.;.	2.848827	0.37605	20.5	0.99654268132029944	0.77505	0.97194	0.73244	D	AEFDBCI	0.954967	0.97245	D	0.485015506101858	0.66215	4.921357	0.533957328235138	0.70291	5.483426	0.999989541292646	0.51787	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.14	5.14	0.70008	5.013000	0.63783	4.065000	0.41618	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.0:1.0:0.0:0.0	18.387	0.90415	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	758.45	33	chr2	218436510	.	C	T	758.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.514;DP=275;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.33;ReadPosRankSum=0.13;SOR=0.658	GT:AD:DP:GQ:PL	0/1:55,36:91:99:769,0,1358	6	0	1	0
chr2	219222695	219222695	G	A	exonic	ATG9A	.	nonsynonymous SNV	ATG9A:NM_024085:exon10:c.C1798T:p.P600S,ATG9A:NM_001077198:exon11:c.C1798T:p.P600S	.	426	1093	3	0	0	3	0.00137049	.	.	.	2427903	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00430046455314	0.0002	.	0.0001	0.0001	0	0	0	0.0002	0	0.0002	0.00011	17	154602	rs373678234	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	2.987e-05	2.236e-05	0	0	0	0.0012	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	8.055e-05	0.0001	6.506e-05	5.319e-05	6.804e-05	5.087e-05	9.622e-05	0	6.536e-05	0	0	0	0.0068	0.0001	0	0	0.338	0.22224	T	0.268	0.24054	T	0.002	0.09854	B	0.001	0.04355	B	0.001019	0.40652	N	0.287375	0.879496	0.35721	D	0.55	0.14455	N	2.0	0.29602	T	-0.25	0.15782	N	0.338	0.38129	-1.0579	0.12286	T	0.051	0.21728	T	10	0.11948803	0.22612	T	0.004	0.10435	T	0.053	0.14996	.	.	0.23798241625	0.23396	0.5471954558450646	0.54645	0.225646240428	0.25111	0.613658189774	0.54833	T	0.026268	0.19473	T	-0.349276	0.04773	T	-0.447339	0.27990	T	0.0300669676167732	0.01999	T	0.855714	0.55818	D	0.06736069	0.14579	0.06475671	0.13026	0.06736069	0.14578	0.06475671	0.13026	-3.768	0.20327	T	.	.	0.085	0.18950	B	.;.;.;.;.	.;.;.;.;.	2.915510	0.38689	20.8	0.98198451462019787	0.39097	0.96435	0.69125	D	AEFDBI	0.533496	0.55292	D	-0.0939045213982881	0.37659	2.194212	0.120936101833533	0.45622	2.822054	0.999994717900438	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	5.310000	0.65568	9.965000	0.82823	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.1465:0.8535:0.0	14.486	0.67199	546	0.72524	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	2562.44	82	chr2	219222695	.	G	A	2562.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.7;DP=427;ExcessHet=0;FS=0.528;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=-0.416;SOR=0.651	GT:AD:DP:GQ:PL	0/1:84,110:194:99:2573,0,1941	6	0	1	0
chr2	219233338	219233338	C	T	exonic	ANKZF1	.	nonsynonymous SNV	ANKZF1:NM_001282792:exon4:c.C94T:p.R32W,ANKZF1:NM_001042410:exon7:c.C724T:p.R242W,ANKZF1:NM_018089:exon7:c.C724T:p.R242W	.	415	1106	1	0	0	1	0.000451875	.	.	.	1510544	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.0547239021258	0.0002	.	8.286e-05	0	0.0009	0	0	0	0	0	6.47e-05	10	154602	rs374716315	3.625e-05	3.625e-05	2.722e-05	4.538e-05	0.0008	2.828e-05	2.565e-05	0.0006	0.0005	2.987e-05	0.0008	0	0	0	0	8.993e-06	0	5.797e-05	9.197e-05	9.193e-05	8.991e-05	9.412e-05	0.0007	5.526e-05	4.364e-05	0.0004	0.0003	4.823e-05	0	0.0007	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.001	0.92824	D	0.399	0.34817	B	0.045	0.24526	B	0.000001	0.84330	D	0.055266	0.999977	0.53665	D	3.07	0.87108	M	1.54	0.30133	T	-6.16	0.90215	D	0.673	0.68082	-0.8891	0.49012	T	0.169	0.50858	T	10	0.25171202	0.42514	T	0.054724	0.65965	D	0.275	0.59130	.	.	0.749654588312	0.74739	0.6157288128572327	0.61504	0.144358480749	0.16299	0.493429660797	0.37915	T	0.188352	0.54224	T	-0.186366	0.22792	T	-0.0968267	0.63643	T	0.318895770364827	0.25777	T	0.935006	0.75597	D	0.56745875	0.70920	0.48378727	0.70115	0.56745875	0.70922	0.48378727	0.70116	-13.196	0.90153	D	.	.	0.176	0.42520	B	.;.;.	.;.;.	4.219185	0.63804	24.6	0.99851211610081825	0.93013	0.94450	0.61205	D	AEFDBI	0.662337	0.63224	D	-0.038659433584032	0.40110	2.376513	-0.0459460504369703	0.37666	2.208494	0.999803359127465	0.43304	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.14	2.34	0.28071	1.072000	0.30290	1.906000	0.29614	-0.229000	0.07765	1.000000	0.71638	1.000000	0.68203	0.517000	0.29406	0.5006:0.4279:0.0:0.0715	8.493	0.32275	550	0.72197	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1575.27	36	chr2	219233338	.	C	T	1575.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.919;DP=300;ExcessHet=0;FS=2.283;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.705;SOR=0.489	GT:AD:DP:GQ:PL	0/1:59,66:125:99:1585,0,1389	5	0	1	1
chr2	219300042	219300042	C	T	exonic	PTPRN	.	nonsynonymous SNV	PTPRN:NM_001199763:exon9:c.G1379A:p.G460E,PTPRN:NM_001199764:exon9:c.G1109A:p.G370E,PTPRN:NM_002846:exon9:c.G1379A:p.G460E	.	423	1089	10	0	0	10	0.00457038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	0.00259585	0.0016	9.623e-05	0.0005	0	0	0.0003	0.0077	0.01	0.0013842	214	154602	rs200184183	0.0007	0.0007	0.0004	0.0010	0.0094	0.0007	0.0007	0.0089	0.0087	2.987e-05	0.0001	0.0012	0	0	0.0010	0.0001	0.0008	0.0094	0.0005	0.0005	0.0003	0.0007	0.0099	0.0004	0.0004	0.0077	0.0069	0	0	0	0.0012	0.0002	0	0.0170	0.0002	0	0.0099	0.044	0.41096	D	0.84	0.13792	T	0.0	0.02946	B	0.001	0.04355	B	0.154834	0.17849	N	0.541618	1	0.08975	N	1.04	0.26193	L	4.03	0.03208	T	-0.68	0.22078	N	0.18	0.19459	-0.9070	0.47215	T	0.005	0.01797	T	10	0.0048052967	0.00102	T	.	.	.	0.033	0.08068	.	.	0.31411915649	0.31020	0.2274703603959591	0.22662	0.126750937996	0.14284	0.318410158157	0.13181	T	0.160316	0.50411	T	-0.665992	0.00058	T	-0.721751	0.04711	T	0.00995866925869084	0.00133	T	0.865113	0.56350	D	0.048470564	0.08453	0.05674674	0.10194	0.048470564	0.08452	0.05674674	0.10193	-3.31	0.25481	T	.	.	0.132	0.28435	B	.;.;.	.;.;.	1.359630	0.17685	13.31	0.63562356176249368	0.07257	0.02592	0.07153	N	AEFDBI	0.091323	0.18500	N	-0.969139738591043	0.09268	0.4379261	-0.896627122801785	0.12174	0.6246631	0.99975300935498	0.42595	0.646311	0.45356	0	0.627178	0.54094	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	4.36	2.37	0.28337	0.262000	0.18229	1.094000	0.24007	0.599000	0.40250	0.001000	0.13787	0.216000	0.23679	0.162000	0.20715	0.0:0.4744:0.2198:0.3058	3.150	0.06097	142	0.94345	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	1472.45	36	chr2	219300042	.	C	T	1472.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.75;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.428;SOR=0.651	GT:AD:DP:GQ:PL	0/1:56,61:117:99:1483,0,1363	6	0	1	0
chr2	223777776	223777776	G	A	exonic	AP1S3	.	nonsynonymous SNV	AP1S3:NM_001039569:exon2:c.C97T:p.R33W	.	429	1089	4	0	0	4	0.00183318	.	.	.	170219	AP1S3-related_disorder|not_specified|Psoriasis_15,_pustular,_susceptibility_to|not_provided	.|MedGen:CN169374|MONDO:MONDO:0014494,MedGen:C4015235,OMIM:616106,Orphanet:247353|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.313	.	0.0086	0.00239617	0.0080	0.0013	0.0062	0	0.0101	0.0109	0.0122	0.0046	0.0076713	1186	154602	rs138292988	0.0099	0.0099	0.0100	0.0097	0.0113	0.0097	0.0097	0.0111	0.0111	0.0016	0.0041	0.0035	5.039e-05	0.0108	0.0012	0.0113	0.0096	0.0042	0.0072	0.0072	0.0075	0.0069	0.0117	0.0068	0.0067	0.0110	0.0107	0.0018	0	0.0042	0.0052	0	0.0101	0.0034	0.0117	0.0047	0.0048	0.011	0.55530	D	0.003	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.755	0.95055	H	.	.	.	-7.58	0.95574	D	0.917	0.91968	0.349	0.88323	D	0.522	0.82168	D	9	0.029742658	0.01100	T	.	.	.	0.313	0.63482	.	.	0.502005994047	0.49837	0.4718000474439679	0.47099	0.386451994408	0.39933	0.509438693523	0.40144	T	0.344173	0.71272	T	-0.259828	0.12919	T	-0.134971	0.60551	T	0.266457766294479	0.23595	T	0.994288	0.98210	D	0.7351252	0.80014	0.5872581	0.76060	0.6752352	0.76715	0.5527871	0.74139	-12.222	0.89766	D	.	.	0.664	0.76979	P	.;.;.;.;.	.;.;.;.;.	4.271032	0.64981	24.8	0.99924738981763028	0.98980	0.91984	0.54689	D	AEFBI	0.820581	0.74134	D	0.740380632505996	0.82276	7.723087	0.636973144908876	0.77643	6.719214	0.0459792052636104	0.14672	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.81	4.91	0.63897	2.676000	0.46550	3.773000	0.39761	-0.134000	0.12905	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.7201:0.2798	13.760	0.62447	733	0.53988	.;.;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit;AP complex, mu/sigma subunit	.	.	.	.	rs138292988	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.000000	0.07143	756.44	33	chr2	223777776	.	G	A	756.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.774;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=1.32;SOR=0.698	GT:AD:DP:GQ:PL	0/1:38,36:74:99:767,0,835	6	0	1	0
chr2	227293291	227293291	G	C	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon38:c.G3311C:p.G1104A	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	3716774	Alport_syndrome_3b,_autosomal_recessive|Autosomal_dominant_Alport_syndrome|Hematuria,_benign_familial,_2	MONDO:MONDO:0957811,MedGen:C5882699,OMIM:620536|MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918|MONDO:MONDO:0958186,MedGen:C5830421,OMIM:620320	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.967	0.918336046561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.724e-06	2.751e-06	0.0002	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	1.657e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000022	0.55875	D	0.000000	1	0.81001	D	3.61	0.93830	H	-5.98	0.99601	D	-5.38	0.88630	D	0.931	0.93605	0.968	0.96674	D	0.992	0.99807	D	10	0.99338204	0.99867	D	0.918336	0.99397	D	0.967	0.99571	0.999	0.99990	0.956458347045	0.95599	0.9460237556403748	0.94584	0.203387455224	0.22757	0.639426231384	0.58482	T	0.678079	0.90517	D	0.557126	0.96041	D	0.562496	0.95980	D	0.997464656829834	0.91620	D	0.955504	0.91515	D	0.82222474	0.85370	0.812013	0.89028	0.82222474	0.85371	0.812013	0.89029	-10.198	0.75088	D	0.8268452681746912	0.89858	0.343	0.56105	A	.;.	.;.	3.928717	0.57408	23.9	0.99564906848005785	0.72014	0.98492	0.83351	D	AEFBI	0.523359	0.54699	D	1.0237759536302	0.96430	14.685	0.92434552035115	0.96548	14.834	0.916934022098801	0.26527	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	5.746000	0.68317	11.601000	0.93476	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	15.769	0.77920	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	986.46	41	chr2	227293291	.	G	C	986.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.79;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-2.636;SOR=0.604	GT:AD:DP:GQ:PL	0/1:47,37:84:99:997,0,1139	6	0	1	0
chr2	227379186	227379186	A	G	exonic	TM4SF20	.	nonsynonymous SNV	TM4SF20:NM_024795:exon1:c.T83C:p.I28T	.	420	1096	5	1	0	7	0.00318327	.	.	.	1643702	not_provided|TM4SF20-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.090	0.00840708997818	0.0018	0.00159744	0.0014	0	0.0014	0	0.0017	0.0021	0	6.056e-05	0.0014165	219	154602	rs138536526	0.0017	0.0017	0.0018	0.0017	0.0020	0.0017	0.0017	0.0019	0.0019	0.0003	0.0018	0.0008	0	0.0012	0.0019	0.0020	0.0019	0.0002	0.0017	0.0017	0.0018	0.0016	0.0025	0.0015	0.0015	0.0022	0.0021	0.0003	0	0.0025	0.0014	0	0.0019	0.0068	0.0025	0.0028	0.0004	0.286	0.15201	T	0.008	0.67890	D	0.015	0.17086	B	0.048	0.24975	B	0.294432	0.14709	N	0.653406	1	0.08975	N	2.045	0.56016	M	1.35	0.34648	T	-2.32	0.51478	N	0.276	0.31253	-1.0015	0.29488	T	0.090	0.34518	T	10	0.016111732	0.00339	T	0.008407	0.22257	T	0.090	0.26093	.	.	0.238096912614	0.23440	0.4702324768199751	0.46942	0.0117463660798	0.01108	0.544604420662	0.45096	T	0.013163	0.11438	T	-0.535146	0.00358	T	-0.546403	0.17672	T	0.0388704127529429	0.03488	T	0.609739	0.23084	T	0.087726615	0.20439	0.09108261	0.21396	0.087726615	0.20439	0.09108261	0.21396	-5.286	0.39804	T	.	.	0.306	0.53425	B	.	.	1.356227	0.17643	13.29	0.80408421072147973	0.13189	0.10069	0.15675	N	AEFDGBHCI	0.153685	0.27859	N	-0.577957018991248	0.19615	1.027989	-0.585679621263008	0.19866	1.067808	0.999999438124585	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.77	4.62	0.56946	2.865000	0.48111	6.100000	0.53542	0.691000	0.84096	0.042000	0.21073	0.728000	0.26397	0.090000	0.17789	0.829:0.0:0.171:0.0	7.196	0.25032	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.005435	0.000000	0.050000	0.008621	0.006098	0.000000	0.1429	2427.24	33	chr2	227379186	.	A	G	2427.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.683;DP=368;ExcessHet=0.3476;FS=2.305;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.883;SOR=0.555	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1262,0,1612	5	0	2	0
chr2	230049775	230049775	A	G	exonic	SLC16A14	.	nonsynonymous SNV	SLC16A14:NM_152527:exon3:c.T389C:p.F130S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.820	0.165928985882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.9	0.52645	P	0.656	0.61462	P	0.000017	0.62929	D	0.000000	0.997681	0.44098	D	2.545	0.74286	M	-1.41	0.80560	T	-4.03	0.76174	D	0.834	0.82964	0.379	0.88778	D	0.631	0.87074	D	10	0.7971642	0.79174	D	0.165929	0.84467	D	0.820	0.94238	0.627	0.76254	0.848297767726	0.84684	0.8387562794884325	0.83835	1.50845117476	0.87186	0.689074337482	0.65573	T	0.484097	0.81155	T	0.328638	0.85071	D	0.234289	0.84875	D	0.99260675907135	0.83127	D	0.789921	0.43036	T	0.59969085	0.72675	0.65179795	0.79624	0.59969085	0.72676	0.65179795	0.79625	-6.488	0.50194	T	.	.	0.826	0.84779	P	.;.;.	.;.;.	4.581552	0.72376	25.8	0.9980659413246763	0.89085	0.95474	0.64864	D	AEFDIJ	0.579395	0.58022	D	0.591873501533999	0.72667	5.841917	0.549528249228243	0.71365	5.64368	0.0170180517342336	0.12902	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.8	4.8	0.61157	5.081000	0.64274	10.732000	0.83642	0.751000	0.87719	0.999000	0.42656	1.000000	0.68203	0.897000	0.43391	1.0:0.0:0.0:0.0	13.108	0.58671	953	0.10115	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	351.53	33	chr2	230049775	.	A	G	351.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.67;DP=198;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=1.86;SOR=0.527	GT:AD:DP:GQ:PL	0/1:19,17:36:99:362,0,497	6	0	1	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1679.91	78	chr2	232847517	.	A	*	1679.91	.	AC=5;AF=0.357;AN=14;DP=634;ExcessHet=1.4958;FS=1.793;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.26;SOR=0.857	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,59:128:99:.:.:2103,0,2511:.	2	0	5	0
chr2	233682328	233682329	CG	-	exonic	UGT1A7	.	frameshift deletion	UGT1A7:NM_019077:exon1:c.391_392del:p.R131Kfs*12	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0024	0	0.0001	0	0.0004	0	0	3.84e-05	1	26028	rs771314938	1.369e-06	1.368e-06	1.362e-06	1.375e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	0	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2952.4	143	chr2	233682327	.	CCG	C	2952.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.359;DP=1206;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.33;MQRankSum=-2.859;QD=11.9;ReadPosRankSum=-0.559;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,114:248:99:0|1:233682324_T_G:2963,0,3674:233682324	6	0	1	0
chr2	233682328	233682328	C	0	exonic	UGT1A7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	28997.8	147	chr2	233682328	.	C	*	28997.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.7;DP=1247;ExcessHet=0.4813;FS=0.585;MLEAC=1;MLEAF=0.071;MQ=59.48;MQRankSum=-2.618;QD=24.45;ReadPosRankSum=0.673;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,114:247:99:1|0:233682324_T_G:10581,4300,3674:233682324	6	0	1	0
chr2	233682329	233682329	G	0	exonic	UGT1A7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	28672.8	146	chr2	233682329	.	G	*	28672.8	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.25;DP=1239;ExcessHet=0.4813;FS=0.577;MLEAC=1;MLEAF=0.071;MQ=59.48;MQRankSum=-0.791;QD=24.24;ReadPosRankSum=0.674;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,114:247:99:.:.:8730,3857,3624:.	6	0	1	0
chr2	233682332	233682332	-	AC	exonic	UGT1A7	.	frameshift insertion	UGT1A7:NM_019077:exon1:c.395_396insAC:p.L133Hfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3079.4	150	chr2	233682332	.	A	AAC	3079.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.193;DP=1203;ExcessHet=0;FS=0.46;MLEAC=1;MLEAF=0.071;MQ=59.35;MQRankSum=-2.737;QD=12.22;ReadPosRankSum=-0.773;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,118:252:99:0|1:233682324_T_G:3090,0,3662:233682324	6	0	1	0
chr2	233842020	233842020	C	T	exonic	HJURP	.	nonsynonymous SNV	HJURP:NM_001282963:exon5:c.G505A:p.D169N,HJURP:NM_001282962:exon6:c.G598A:p.D200N,HJURP:NM_018410:exon8:c.G760A:p.D254N	.	433	1078	11	0	0	11	0.00507614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00565089478322	.	.	0.0006	0	0	0	0	0.0001	0.0022	0.0039	0.0004851	75	154602	rs202022630	0.0003	0.0003	0.0002	0.0004	0.0039	0.0003	0.0003	0.0035	0.0034	0	8.944e-05	0	0	0	0.0012	7.824e-05	0.0003	0.0039	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	9.695e-05	0.0005	0.0004	2.405e-05	0	6.536e-05	0	0.0002	0	0.0034	0.0002	0.0005	0.0012	0.203	0.26192	T	0.225	0.26467	T	0.335	0.33330	B	0.15	0.34161	B	0.133832	0.18537	N	0.498768	1	0.08975	N	1.185	0.30054	L	2.8	0.39990	T	-2.29	0.56144	N	0.174	0.26717	-1.0153	0.25240	T	0.078	0.31072	T	10	0.006063074	0.00136	T	0.005651	0.14621	T	0.022	0.04323	0.387	0.40788	0.254761474806	0.25079	0.1414699334388066	0.14069	0.106751890607	0.12062	0.339848071337	0.16416	T	0.025799	0.37562	T	-0.612443	0.00122	T	-0.653028	0.08744	T	0.030071836145738	0.02001	T	0.69773	0.31322	T	0.030974463	0.02854	0.039896492	0.04187	0.030974463	0.02853	0.039896492	0.04186	-4.47	0.30494	T	.	.	0.108	0.33778	B	.;.;.;.;.	.;.;.;.;.	1.364422	0.17740	13.34	0.9890937913749942	0.48345	0.13505	0.17894	N	AEFDBCI	0.062198	0.11941	N	-0.621831547377011	0.18289	0.9483346	-0.677775444672102	0.17516	0.9317817	0.999964235869194	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.22	3.34	0.37357	0.183000	0.16729	0.834000	0.21977	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.058000	0.15825	0.0:0.8935:0.0:0.1065	8.253	0.30900	889	0.27310	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1600.53	59	chr2	233842020	.	C	T	1600.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.436;DP=508;ExcessHet=0;FS=1.256;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.639;SOR=0.57	GT:AD:DP:GQ:PL	0/1:89,70:159:99:1611,0,2392	6	0	1	0
chr2	236465644	236465644	G	A	exonic	IQCA1	.	nonsynonymous SNV	IQCA1:NM_001270584:exon6:c.C787T:p.R263W,IQCA1:NM_001270585:exon6:c.C808T:p.R270W,IQCA1:NM_024726:exon6:c.C787T:p.R263W	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.116702259778	0.0021	0.000798722	0.0018	0.0006	0.0012	0	0.0009	0.0026	0.0023	0.0007	0.0017464	270	154602	rs35814876	0.0022	0.0022	0.0023	0.0021	0.0024	0.0021	0.0021	0.0024	0.0023	0.0004	0.0019	0.0064	7.557e-05	0.0002	0.0016	0.0024	0.0022	0.0007	0.0015	0.0015	0.0016	0.0015	0.0024	0.0014	0.0013	0.0021	0.0020	0.0005	0	0.0014	0.0046	0	0.0002	0.0068	0.0024	0.0033	0.0006	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.002106	0.37227	N	0.120895	1	0.08975	N	.	.	.	-3.86	0.95891	D	-6.66	0.92302	D	0.502	0.54234	0.762	0.93948	D	0.927	0.97581	D	10	0.02900678	0.01029	T	0.116702	0.79627	D	0.562	0.82061	.	.	0.686737365345	0.68405	0.7554852853329421	0.75495	0.120914663314	0.13617	0.388927042484	0.23519	T	0.267283	0.63930	T	-0.018273	0.49100	T	0.199186	0.83082	D	0.100542382343621	0.12417	T	0.870713	0.57574	D	0.31617102	0.54314	0.22931553	0.48000	0.31617102	0.54314	0.22931553	0.47999	-9.918	0.74460	D	.	.	0.171	0.46073	B	.;.;.	.;.;.	2.741475	0.35911	20.1	0.99708382538904816	0.81143	0.15366	0.18876	N	AEFBI	0.199535	0.32633	N	-0.0740527746711246	0.38534	2.258325	-0.35040378144507	0.26496	1.463906	1.47986361487263E-5	0.02871	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.37	1.31	0.20837	0.519000	0.22570	3.102000	0.36323	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.014000	0.10232	0.0:0.0:0.3887:0.6113	15.763	0.77873	988	0.01987	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1301.49	33	chr2	236465644	.	G	A	1301.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.576;DP=281;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=1.13;SOR=0.722	GT:AD:DP:GQ:PL	0/1:52,53:105:99:1312,0,1405	6	0	1	0
chr2	237371848	237371848	G	A	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057166:exon6:c.C2348T:p.S783L,COL6A3:NM_057164:exon7:c.C2948T:p.S983L,COL6A3:NM_057165:exon8:c.C3551T:p.S1184L,COL6A3:NM_057167:exon8:c.C3551T:p.S1184L,COL6A3:NM_004369:exon9:c.C4169T:p.S1390L	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	250688	not_provided|Collagen_6-related_myopathy|not_specified|Bethlem_myopathy_1A	MedGen:C3661900|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.382	0.131200322334	0.0008	0.00199681	0.0003	0.0031	8.643e-05	0.0001	0	6.001e-05	0	0.0001	0.0003363	52	154602	rs115548605	0.0001	0.0001	0.0001	0.0001	0.0019	9.809e-05	9.225e-05	0.0015	0.0014	0.0019	0.0004	0	2.519e-05	0	0.0002	4.317e-05	0.0005	2.319e-05	0.0009	0.0009	0.0010	0.0009	0.0025	0.0008	0.0008	0.0021	0.0020	0.0025	0	0.0018	0	0	0	0	7.53e-05	0.0024	0	0.399	0.37536	T	0.002	0.79402	D	0.692	0.61118	P	0.096	0.47859	B	0.033262	0.24919	N	0.288241	0.715659	0.33564	D	0.95	0.23787	L	-1.71	0.83157	D	-2.44	0.53420	N	0.296	0.35832	-0.4084	0.71761	T	0.342	0.70802	T	10	0.013390213	0.00284	T	0.131	0.81343	D	0.382	0.69946	.	.	0.827223003229	0.82559	0.5486702234678092	0.54793	0.345838924819	0.36485	0.459630191326	0.33259	T	0.277963	0.65059	T	-0.27725	0.10962	T	-0.175642	0.56926	T	0.0218702045093133	0.00894	T	0.891311	0.62583	D	0.15028758	0.34221	0.1035394	0.24844	0.12441626	0.29192	0.12028873	0.29030	-7.171	0.56897	T	0.16691354322788002	0.20781	0.103	0.25527	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.441485	0.31422	18.74	0.99438203535254588	0.64621	0.89787	0.50480	D	AEFDBI	0.557984	0.56739	D	-0.425543410467374	0.24577	1.327999	-0.296777983619614	0.28205	1.570694	0.999805992262281	0.43304	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.64	4.77	0.60425	1.340000	0.33501	6.497000	0.55774	-0.119000	0.14319	0.316000	0.25468	1.000000	0.68203	0.905000	0.44082	0.0747:0.0:0.7534:0.1718	9.674	0.39192	940	0.13648	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1293.45	34	chr2	237371848	.	G	A	1293.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.535;DP=287;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=0.176;SOR=0.648	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1304,0,1141	6	0	1	0
chr2	237381337	237381337	G	C	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.C254G:p.T85S,COL6A3:NM_057166:exon3:c.C254G:p.T85S,COL6A3:NM_057165:exon4:c.C857G:p.T286S,COL6A3:NM_057167:exon4:c.C857G:p.T286S,COL6A3:NM_004369:exon5:c.C1475G:p.T492S	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100808	Collagen_6-related_myopathy|not_specified|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0100225,MedGen:CN117976|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.115	.	0.0020	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs113897824	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0007	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.385	0.35349	T	0.142	0.36233	T	0.542	0.37927	P	0.279	0.40265	B	0.015240	0.28305	N	0.245514	0.801403	0.34516	D	0.935	0.23595	L	-1.68	0.82897	D	-0.89	0.31981	N	0.197	0.25130	-0.5242	0.67759	T	0.304	0.67464	T	10	0.0041661263	0.00082	T	.	.	.	0.115	0.32236	0.356	0.35734	0.582638149471	0.57935	0.28273255772480255	0.28186	0.244890568272	0.27008	0.279157876968	0.07375	T	0.199684	0.55704	T	-0.400147	0.02310	T	-0.337172	0.40666	T	0.00407187472035348	0.00043	T	0.612239	0.30590	T	0.09517698	0.22393	0.07853483	0.17598	0.079272114	0.18101	0.076297514	0.16884	-3.885	0.30283	T	.	.	0.097	0.18122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.459944	0.18824	13.94	0.95807155714322945	0.27873	0.42820	0.26962	N	AEFBI	0.260702	0.37880	N	-0.69545567415975	0.16151	0.820323	-0.645389732327595	0.18333	0.9788823	0.999450295830064	0.39788	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.5	3.64	0.40864	0.728000	0.25682	4.383000	0.43188	0.676000	0.76740	0.007000	0.17678	1.000000	0.68203	0.934000	0.47231	0.0:0.2658:0.5963:0.1378	10.912	0.46327	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.1429	4170.24	33	chr2	237381337	.	G	C	4170.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.278;DP=385;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=18.21;ReadPosRankSum=0.388;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,39:99:99:0|1:237381337_G_C:1433,0,2385:237381337	5	0	2	0
chr2	237381341	237381341	C	G	exonic	COL6A3	.	nonsynonymous SNV	COL6A3:NM_057164:exon3:c.G250C:p.D84H,COL6A3:NM_057166:exon3:c.G250C:p.D84H,COL6A3:NM_057165:exon4:c.G853C:p.D285H,COL6A3:NM_057167:exon4:c.G853C:p.D285H,COL6A3:NM_004369:exon5:c.G1471C:p.D491H	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Dystonia 27, Autosomal recessive;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	0	1468	50	4	0	58	0.0193721	.	.	.	100807	not_provided|not_specified|Bethlem_myopathy_1A|Collagen_6-related_myopathy	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0100225,MedGen:CN117976	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.521	.	0.0018	0.00359425	0.0075	0.0012	0.0022	0	0.0123	0.0088	0.0099	0.0116	0.007128	1102	154602	rs112010940	0.0059	0.0060	0.0056	0.0063	0.0140	0.0058	0.0058	0.0116	0.0113	0.0006	0.0020	0.0342	0	0.0100	0.0140	0.0050	0.0071	0.0122	0.0053	0.0053	0.0049	0.0057	0.0133	0.0050	0.0049	0.0107	0.0097	0.0008	0	0.0016	0.0429	0	0.0118	0.0204	0.0058	0.0043	0.0133	0.004	0.65419	D	0.002	0.92824	D	0.503	0.37206	P	0.464	0.46572	P	0.000032	0.55875	D	0.000000	0.998002	0.58761	D	1.85	0.49092	L	-1.8	0.83893	D	-2.34	0.80595	N	0.408	0.49420	-0.2252	0.77013	T	0.445	0.78136	T	10	0.004274875	0.00086	T	.	.	.	0.521	0.79643	.	.	0.784802411588	0.78281	0.6835498080276483	0.68293	0.447034461529	0.44568	0.377826780081	0.21948	T	0.278705	0.76907	T	-0.214431	0.18760	T	-0.0704044	0.65597	T	0.0245525690017757	0.01215	T	0.836716	0.57527	T	0.35974628	0.57816	0.34155858	0.59894	0.38446113	0.59638	0.3216856	0.58114	-8.526	0.64641	D	.	.	0.380	0.62162	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.134648	0.42367	21.5	0.98249625934338536	0.39558	0.68644	0.33880	D	AEFBI	0.566125	0.57223	D	-0.210755514957118	0.32693	1.846463	-0.18538953988746	0.32072	1.821115	0.999997813254138	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.31	4.4	0.52402	3.131000	0.50210	1.849000	0.29243	0.599000	0.40250	0.769000	0.29345	0.941000	0.28781	0.945000	0.48827	0.0:0.7252:0.2748:0.0	14.505	0.67332	931	0.16308	.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A;.;.;.;von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.009567	0.000000	0.004076	0.017544	0.000000	0.008621	0.021341	0.018939	0.1429	4229.24	33	chr2	237381341	.	C	G	4229.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.54;DP=389;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=18.31;ReadPosRankSum=-0.273;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,42:102:99:0|1:237381337_G_C:1513,0,2376:237381337	5	0	2	0
chr2	238100441	238100441	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_194312:exon1:c.G22A:p.V8M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.254279230099	0.0002	0.00159744	0.0012	0	0.0002	0.0084	0	0.0009	0	0	0.0006856	106	154602	rs199778762	0.0005	0.0006	0.0006	0.0005	0.0035	0.0005	0.0005	0.0030	0.0028	0.0002	0.0002	7.775e-05	0.0035	0.0002	0	0.0005	0.0004	1.187e-05	0.0004	0.0004	0.0005	0.0004	0.0060	0.0003	0.0003	0.0043	0.0038	4.808e-05	0	6.531e-05	0	0.0060	0	0	0.0004	0.0005	0.0002	0.093	0.35918	T	0.108	0.37589	T	0.95	0.53885	P	0.537	0.48765	P	0.601957	0.05651	N	1.252820	1	0.08975	N	0.77	0.19370	N	-0.03	0.66294	T	-0.18	0.09796	N	0.211	0.25622	-0.8894	0.48986	T	0.230	0.59571	T	10	0.009266138	0.00209	T	0.254279	0.89245	D	0.152	0.39956	.	.	0.207176502487	0.20327	0.12860113584043095	0.12785	0.400748112602	0.41077	0.576363325119	0.49573	T	0.003375	0.02778	T	-0.411835	0.01933	T	-0.360623	0.37981	T	0.0461144128637618	0.04804	T	0.70043	0.31009	T	0.04038383	0.05755	0.06141446	0.11856	0.04038383	0.05754	0.06141446	0.11856	-5.049	0.39516	T	.	.	0.120	0.25978	B	.;.	.;.	0.609450	0.09781	6.545	0.99530322873607435	0.69839	0.06472	0.12481	N	AEFDBCI	0.129499	0.24770	N	-0.464657518218084	0.23246	1.24695	-0.638969724126605	0.18496	0.9882983	0.999969477834378	0.48965	0.403107	0.06075	0	0.547309	0.14657	0	0.514364	0.09456	0	0.562822	0.20929	0	.	.	4.37	1.04	0.19220	-1.020000	0.03729	-2.813000	0.03335	-0.117000	0.14459	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0966:0.1221:0.4514:0.3299	3.297	0.06559	970	0.06235	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	388.49	33	chr2	238100441	.	G	A	388.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=208;ExcessHet=0;FS=2.628;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-0.69;SOR=1.206	GT:AD:DP:GQ:PL	0/1:29,18:47:99:399,0,643	6	0	1	0
chr2	239126586	239126586	C	G	exonic	HDAC4	.	nonsynonymous SNV	HDAC4:NM_001378414:exon12:c.G1403C:p.G468A,HDAC4:NM_001378415:exon12:c.G1403C:p.G468A,HDAC4:NM_001378416:exon12:c.G1388C:p.G463A,HDAC4:NM_001378417:exon12:c.G1388C:p.G463A,HDAC4:NM_006037:exon12:c.G1388C:p.G463A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.381633485041	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.124	0.35455	T	0.999	0.77913	D	0.906	0.64351	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.64	0.41913	L	-1.77	0.83660	D	-2.47	0.53898	N	0.718	0.72031	0.482	0.90299	D	0.705	0.89842	D	9	0.7351661	0.74569	D	0.381633	0.92985	D	0.375	0.69358	0.181	0.08877	0.793086707147	0.79116	0.5257602760905123	0.52500	1.31525297928	0.83316	0.854794979095	0.90337	D	0.783757	0.94315	D	0.117263	0.66096	D	-0.0693364	0.65673	T	0.958943903446198	0.65404	D	0.913709	0.70062	D	0.25831446	0.48880	0.23835535	0.49156	0.25831446	0.48880	0.23835535	0.49155	-11.682	0.83268	D	0.3409500458550025	0.43868	0.424	0.66325	A	.;.	.;.	3.499246	0.48948	22.7	0.99817704688043041	0.90061	0.99557	0.97415	D	AEFDBI	0.876000	0.79974	D	0.655536927811408	0.76727	6.540252	0.602995662804947	0.75159	6.261177	0.999999999947537	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.508809	0.08732	0	.	.	4.46	4.46	0.53567	7.468000	0.79953	7.480000	0.59248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.589000	0.31115	0.0:1.0:0.0:0.0	17.503	0.87632	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1095.53	36	chr2	239126586	.	C	G	1095.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.639;SOR=0.735	GT:AD:DP:GQ:PL	0/1:40,47:87:99:1106,0,827	6	0	1	0
chr2	240526332	240526332	G	A	exonic	ANKMY1	.	nonsynonymous SNV	ANKMY1:NM_001354024:exon5:c.C800T:p.A267V,ANKMY1:NM_016552:exon5:c.C800T:p.A267V,ANKMY1:NM_001282771:exon6:c.C1067T:p.A356V,ANKMY1:NM_001354023:exon7:c.C1067T:p.A356V	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0481911448047	7.7e-05	0.00119808	0.0005	0	0.0002	0	0	1.504e-05	0	0.0036	0.0004528	70	154602	rs146538328	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	2.236e-05	0	0	0	0.0017	1.169e-05	0.0004	0.0032	0.0001	0.0001	6.423e-05	0.0002	0.0039	9.14e-05	7.697e-05	0.0026	0.0021	0	0	0	0	0	0	0	2.94e-05	0	0.0039	0.008	0.59928	D	0.005	0.72224	D	1.0	0.90584	D	0.993	0.81110	D	0.014141	0.28625	N	0.270263	0.983065	0.81001	D	1.535	0.38868	L	0.41	0.57100	T	-3.02	0.62630	D	0.716	0.71854	-0.4919	0.68941	T	0.280	0.65149	T	10	0.029551715	0.01081	T	0.048191	0.63264	D	0.376	0.69443	.	.	0.830592188486	0.82898	0.7933446821346415	0.79287	.	.	0.382183521986	0.22566	T	0.184568	0.53727	T	-0.155332	0.27479	T	-0.000203994	0.70323	D	0.158192966544936	0.17737	T	0.794321	0.43637	T	0.22838111	0.45556	0.24916992	0.50482	0.22838111	0.45556	0.24916992	0.50481	-10.182	0.74994	D	.	.	0.722	0.73880	P	.;.	.;.	4.566056	0.72000	25.8	0.99927270304684113	0.99163	0.96839	0.71218	D	AEFBI	0.759120	0.69755	D	0.558589043123895	0.70606	5.526368	0.485649469237907	0.67040	5.030906	0.999834276737658	0.43792	0.460665	0.09802	0	0.577304	0.33150	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.37	4.37	0.51830	7.042000	0.76286	10.979000	0.84589	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.483000	0.28633	0.0:0.0:1.0:0.0	14.769	0.69283	994	0.00715	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2513.44	38	chr2	240526332	.	G	A	2513.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.344;DP=431;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.549;SOR=0.7	GT:AD:DP:GQ:PL	0/1:123,107:230:99:2524,0,2931	6	0	1	0
chr2	241572401	241572401	C	A	exonic	BOK	.	nonsynonymous SNV	BOK:NM_032515:exon5:c.C618A:p.F206L	.	423	1097	1	0	1	2	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00317874902144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs747958315	2.072e-06	4.104e-06	1.374e-06	2.777e-06	0.0003	5.5e-07	1.5e-07	6.101e-05	2.525e-05	0	0	0	0	2.326e-05	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.12837	T	0.317	0.19304	T	0.006	0.13644	B	0.005	0.11217	B	0.000647	0.42656	N	0.207000	0.566295	0.31215	N	0.975	0.24501	L	1.14	0.38397	T	-0.48	0.15379	N	0.1	0.08227	-1.0568	0.12569	T	0.051	0.21883	T	10	0.06435943	0.08523	T	0.003179	0.06966	T	0.023	0.04649	0.472	0.54699	0.0920862733494	0.08535	0.4714608530941022	0.47065	0.144869896826	0.16365	0.776305198669	0.78371	T	0.188049	0.54184	T	-0.226254	0.17148	T	-0.562774	0.16117	T	0.103051841259003	0.12689	T	0.820318	0.47908	T	0.049258467	0.08717	0.053561147	0.09047	0.049258467	0.08716	0.053561147	0.09046	-2.306	0.04588	T	.	.	0.514	0.65194	A	.	.	1.031933	0.14123	10.69	0.97235039196282813	0.32969	0.06208	0.12194	N	AEFDBCI	0.151095	0.27551	N	-1.08109916463146	0.06991	0.3234863	-1.0613630477442	0.08472	0.4167007	0.94288097566447	0.27543	0.67177	0.52595	0	0.588015	0.36545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.07	-0.824	0.10266	-0.755000	0.04887	-1.545000	0.05202	-0.180000	0.10397	0.004000	0.16614	0.000000	0.08366	0.932000	0.46971	0.0:0.3598:0.0:0.6402	10.062	0.41450	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	544.53	32	chr2	241572401	.	C	A	544.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.437;DP=196;ExcessHet=0;FS=1.287;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.142;SOR=0.389	GT:AD:DP:GQ:PL	0/1:17,22:39:99:555,0,367	6	0	1	0
chr3	5174387	5174387	A	G	exonic	ARL8B	.	nonsynonymous SNV	ARL8B:NM_018184:exon6:c.A484G:p.I162V	.	443	1078	1	0	0	1	0.000463607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0251351480504	0.0022	0.000998403	0.0022	0.0006	0.0006	0	0.0073	0.0030	0.0022	0.0002	0.0019987	309	154602	rs142243427	0.0021	0.0022	0.0022	0.0021	0.0020	0.0021	0.0021	0.0019	0.0019	0.0004	0.0009	0.0142	0	0.0062	0.0002	0.0020	0.0026	0.0003	0.0020	0.0020	0.0020	0.0021	0.0025	0.0019	0.0018	0.0022	0.0021	0.0004	0	0.0018	0.0092	0	0.0052	0.0034	0.0025	0.0028	0.0002	0.11	0.29158	T	0.248	0.23845	T	0.019	0.17989	B	0.03	0.21741	B	0.000001	0.84330	D	0.093672	1	0.81001	D	1.245	0.31408	L	-1.62	0.82347	D	-0.84	0.22944	N	0.281	0.31814	-0.3655	0.73098	T	0.430	0.77238	T	10	0.010258049	0.00229	T	0.025135	0.48119	D	0.324	0.64624	.	.	0.654981827081	0.65210	0.27296280749308427	0.27209	1.08025085994	0.77118	0.699909448624	0.67131	T	0.068089	0.33367	T	-0.255613	0.13418	T	-0.143938	0.59776	T	0.00883217843760953	0.00109	T	0.946505	0.79528	D	0.14571132	0.33389	0.13792628	0.32954	0.14571132	0.33388	0.13792628	0.32953	-8.735	0.65975	D	.	.	0.085	0.10304	B	.;.	.;.	3.289812	0.45108	22.1	0.99609050726428772	0.74694	0.98403	0.82420	D	AEGBI	0.770557	0.70547	D	0.0319325132814576	0.43312	2.626606	0.222869065826874	0.51117	3.297226	0.99999999995872	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.56	5.56	0.83678	5.007000	0.63738	11.079000	0.85716	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.714	0.77417	830	0.39242	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1008.44	36	chr3	5174387	.	A	G	1008.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.681;DP=278;ExcessHet=0;FS=3.985;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.024;SOR=1.179	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1019,0,1108	6	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	1660.79	141	chr3	15003967	.	C	G	1660.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-4.208;DP=1071;ExcessHet=6.1542;FS=258.487;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.42;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:163,63:226:99:.:.:571,0,4750:.	1	0	5	1
chr3	15635581	15635581	A	G	exonic	BTD	.	nonsynonymous SNV	BTD:NM_001281723:exon2:c.A142G:p.I48V,BTD:NM_001281725:exon2:c.A142G:p.I48V,BTD:NM_001281726:exon2:c.A142G:p.I48V,BTD:NM_001370658:exon2:c.A142G:p.I48V,BTD:NM_001370752:exon2:c.A142G:p.I48V,BTD:NM_001370753:exon2:c.A142G:p.I48V,BTD:NM_001323582:exon3:c.A142G:p.I48V,BTD:NM_001281724:exon4:c.A142G:p.I48V	Biotinidase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	518944	BTD-related_disorder|not_provided|Biotinidase_deficiency	.|MedGen:C3661900|MONDO:MONDO:0009665,MedGen:C0220754,OMIM:253260,Orphanet:79241	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.174	.	0.0076	0.00758786	0.0019	0.0213	0.0006	0	0	4.495e-05	0	0	0.0018111	280	154602	rs114092911	0.0006	0.0006	0.0007	0.0005	0.0225	0.0006	0.0006	0.0212	0.0207	0.0225	0.0011	0	0	0	0.0003	1.709e-05	0.0014	3.478e-05	0.0066	0.0066	0.0068	0.0064	0.0229	0.0063	0.0061	0.0217	0.0212	0.0229	0	0.0023	0	0	0	0.0068	0.0001	0.0033	0	0.543	0.19361	T	0.357	0.19304	T	0.008	0.14655	B	0.008	0.13708	B	0.096315	0.20082	N	0.527918	0.999996	0.08975	N	1.275	0.32135	L	-3.54	0.94799	D	-0.9	0.24244	N	0.093	0.08366	-0.5330	0.67428	T	0.281	0.65320	T	10	0.0063790977	0.00144	T	.	.	.	0.174	0.44019	.	.	0.777943573247	0.77589	0.5578327123927991	0.55710	0.0621684514235	0.06921	0.298597157001	0.10193	T	0.341769	0.71064	T	-0.38214	0.03020	T	-0.305438	0.44148	T	0.0011359375	0.00011	T	0.653935	0.26930	T	0.016402895	0.00195	0.02243346	0.00268	0.015889464	0.00163	0.020462217	0.00137	-3.736	0.27427	T	.	.	0.075	0.09191	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.541320	0.01739	0.130	0.36609945770931657	0.02365	0.12476	0.17292	N	AEFDGBCIJ	0.178063	0.30532	N	-1.28448706787676	0.03862	0.17327	-1.36792486422879	0.03599	0.1682133	0.999999948231378	0.74766	0.730579	0.87903	0	0.688494	0.66719	0	0.688494	0.62686	0	0.648885	0.59868	0	.	.	4.72	-3.88	0.03927	0.728000	0.25682	-1.825000	0.04657	-0.604000	0.04605	0.105000	0.22895	0.000000	0.08366	0.001000	0.02609	0.4913:0.0:0.2714:0.2373	3.922	0.08747	484	0.77165	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.003788	0.1429	3003.25	35	chr3	15635581	.	A	G	3003.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.125;DP=407;ExcessHet=0.3476;FS=0.982;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=0.017;SOR=0.795	GT:AD:DP:GQ:PL	0/1:75,73:148:99:1768,0,1894	5	0	2	0
chr3	15679512	15679512	G	A	exonic	ANKRD28	.	nonsynonymous SNV	ANKRD28:NM_001195099:exon20:c.C1889T:p.T630M,ANKRD28:NM_001349280:exon21:c.C2183T:p.T728M,ANKRD28:NM_001195098:exon22:c.C1889T:p.T630M,ANKRD28:NM_001349277:exon22:c.C2450T:p.T817M,ANKRD28:NM_001349278:exon22:c.C2441T:p.T814M,ANKRD28:NM_001349281:exon22:c.C2183T:p.T728M,ANKRD28:NM_001349282:exon22:c.C2183T:p.T728M,ANKRD28:NM_001349283:exon22:c.C1889T:p.T630M,ANKRD28:NM_015199:exon22:c.C2351T:p.T784M,ANKRD28:NM_001349279:exon23:c.C2342T:p.T781M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0038	0.00319489	0.0011	0.0114	0.0006	0.0014	0	7.895e-05	0.0023	0	0.0009767	151	154602	rs116650555	0.0004	0.0004	0.0004	0.0003	0.0112	0.0003	0.0003	0.0103	0.0099	0.0112	0.0008	0	0.0010	0	0.0005	1.889e-05	0.0009	5.797e-05	0.0031	0.0031	0.0031	0.0030	0.0106	0.0028	0.0027	0.0098	0.0095	0.0106	0	0.0009	0	0.0006	0	0.0034	2.941e-05	0.0019	0.0002	0.439	0.09291	T	0.307	0.23501	T	0.0	0.02946	B	0.001	0.04355	B	0.151794	0.17943	N	0.638814	1	0.08975	N	1.245	0.31408	L	2.36	0.16089	T	1.39	0.00846	N	0.199	0.24385	-1.0224	0.22932	T	0.019	0.07893	T	10	0.005570203	0.00123	T	.	.	.	0.043	0.11576	.	.	0.202312658747	0.19855	0.21029837617745442	0.20945	0.184250353618	0.20723	0.325887948275	0.14312	T	0.019111	0.15285	T	-0.696496	0.00038	T	-0.76385	0.02976	T	0.00317203554184759	0.00033	T	0.742826	0.36203	T	0.011578356	0.00019	0.02568174	0.00622	0.011578356	0.00019	0.02568174	0.00622	-3.711	0.19481	T	.	.	0.055	0.00390	B	.;.	.;.	1.459584	0.18817	13.94	0.66157240525635974	0.07977	0.48762	0.28280	N	AEFDGBIJ	0.055600	0.10210	N	-0.773645921985997	0.13999	0.6938717	-0.694202575891666	0.17104	0.9080127	0.999486961807393	0.39952	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	6.06	-0.832	0.10240	1.999000	0.40425	1.563000	0.27369	-0.113000	0.14837	0.988000	0.36536	0.269000	0.24035	0.944000	0.48669	0.6791:0.0:0.3209:0.0	10.675	0.44976	492	0.76569	.;Ankyrin repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	3959.24	36	chr3	15679512	.	G	A	3959.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.29;DP=462;ExcessHet=0.3476;FS=4.593;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=1.07;SOR=0.944	GT:AD:DP:GQ:PL	0/1:84,88:172:99:2221,0,1950	5	0	2	0
chr3	17014786	17014786	C	T	exonic	PLCL2	.	nonsynonymous SNV	PLCL2:NM_001144382:exon3:c.C2893T:p.P965S,PLCL2:NM_015184:exon3:c.C2515T:p.P839S	.	.	.	.	.	.	.	.	.	.	.	697922	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.097	.	0.0098	0.00658946	0.0022	0.0248	0.0008	0	0	5.994e-05	0.0011	0	0.0021022	325	154602	rs74332311	0.0008	0.0008	0.0009	0.0007	0.0260	0.0008	0.0007	0.0246	0.0240	0.0260	0.0011	0	0	0	0.0021	9.892e-05	0.0018	1.159e-05	0.0074	0.0074	0.0077	0.0072	0.0256	0.0071	0.0069	0.0243	0.0238	0.0256	0	0.0032	0	0	0	0	0.0001	0.0066	0.0002	1.0	0.00964	T	0.831	0.03706	T	0.0	0.02946	B	0.0	0.01387	B	0.001601	0.38497	N	0.291867	0.752867	0.29620	N	.	.	.	2.48	0.14657	T	1.4	0.00835	N	0.176	0.22228	-0.9649	0.38230	T	0.004	0.01435	T	9	0.003397882	0.00059	T	.	.	.	0.097	0.27909	.	.	0.220282294035	0.21616	0.2611393278077149	0.26026	.	.	0.440456300974	0.30639	T	0.076779	0.35499	T	-0.514555	0.00473	T	-0.490949	0.23291	T	0.00730543206188604	0.00084	T	.	.	.	0.064265445	0.13619	0.07881686	0.17688	0.064265445	0.13618	0.07881686	0.17687	-1.299	0.01566	T	.	.	0.079	0.07083	B	.;.	.;.	1.957512	0.24864	16.55	0.27540556105475517	0.01372	0.69484	0.34206	D	AEFDBI	0.109145	0.21689	N	-0.423644350747114	0.24643	1.332033	-0.288343530295596	0.28482	1.588382	0.999979122426182	0.50053	0.743674	0.98306	0	0.724815	0.89359	0	0.630245	0.45026	0	0.683762	0.67416	0	.	.	5.16	2.17	0.26736	1.725000	0.37696	3.404000	0.38147	0.599000	0.40250	0.805000	0.29786	0.998000	0.33993	0.758000	0.36073	0.5214:0.3905:0.0:0.0881	7.037	0.24176	635	0.64580	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.010101	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	1967.29	34	chr3	17014786	.	C	T	1967.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.437;DP=315;ExcessHet=0.3476;FS=2.809;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=2.28;SOR=0.49	GT:AD:DP:GQ:PL	0/1:40,33:73:99:779,0,1015	5	0	2	0
chr3	20001751	20001751	G	T	exonic	PP2D1	.	nonsynonymous SNV	PP2D1:NM_001252657:exon2:c.C369A:p.F123L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.0105831	0.0018	0.0198	0	0	0	0.0036	0	0	0.0007374	114	154602	rs7652446	0.0008	0.0008	0.0009	0.0007	0.0250	0.0008	0.0007	0.0235	0.0230	0.0250	0.0016	0.0039	0	0	0.0012	6.408e-05	0.0016	0	0.0072	0.0073	0.0074	0.0071	0.0253	0.0069	0.0067	0.0240	0.0235	0.0253	0	0.0018	0.0037	0	0	0	8.822e-05	0.0024	0.0002	0.37	0.11550	T	0.408	0.14633	T	.	.	.	.	.	.	0.851279	0.08960	N	0.929892	1	0.08975	N	1.35	0.33515	L	2.3	0.16953	T	-1.84	0.43149	N	0.063	0.03502	-0.9470	0.41481	T	0.007	0.02518	T	9	0.0034809709	0.00062	T	.	.	.	0.034	0.08419	0.59	0.71874	0.0138822411134	0.00435	0.1732052823595004	0.17240	.	.	0.389454126358	0.23592	T	0.011757	0.10442	T	-0.717915	0.00028	T	-0.784415	0.02323	T	0.00172235681405089	0.00018	T	0.338066	0.07246	T	0.07688486	0.17415	0.05562679	0.09793	0.07688486	0.17415	0.05562679	0.09793	-2.386	0.05047	T	.	.	0.259	0.49383	B	.	.	0.013838	0.04377	1.130	0.66743336377112261	0.08148	0.19420	0.20654	N	AEFI	0.108718	0.21619	N	-1.27695591759128	0.03954	0.177604	-1.29044810982327	0.04559	0.2152987	0.0104239061495552	0.12023	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.6	0.53	0.16296	0.271000	0.18390	2.027000	0.30236	-0.988000	0.01860	0.000000	0.06391	1.000000	0.68203	0.004000	0.06068	0.1781:0.2028:0.515:0.1042	3.668	0.07798	701	0.57775	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2031.24	68	chr3	20001751	.	G	T	2031.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.643;DP=509;ExcessHet=0.3476;FS=1.146;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.3;SOR=0.628	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1274,0,1296	5	0	2	0
chr3	28478826	28478826	A	C	exonic	ZCWPW2	.	nonsynonymous SNV	ZCWPW2:NM_001324169:exon4:c.A505C:p.K169Q,ZCWPW2:NM_001040432:exon5:c.A505C:p.K169Q	.	.	.	.	.	.	.	.	.	.	.	3353502	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0340105784958	.	.	6.255e-05	0	0	0	0	9.892e-05	0.0012	0	5.82e-05	9	154602	rs758939037	6.408e-05	6.704e-05	6.577e-05	6.236e-05	0.0032	5.292e-05	4.917e-05	0.0020	0.0017	0.0002	0	0	0	0	0.0032	5.738e-05	7.005e-05	0	3.287e-05	3.283e-05	5.142e-05	1.345e-05	6.549e-05	1.261e-05	7.98e-06	1.973e-05	1.125e-05	0	0	6.549e-05	0	0	0	0	5.883e-05	0	0	0.028	0.46129	D	0.046	0.49120	D	0.158	0.28271	B	0.188	0.36237	B	0.444501	0.12585	N	0.732309	0.999999	0.08975	N	1.725	0.44537	L	-0.53	0.70833	T	-1.18	0.30140	N	0.134	0.13055	-0.9828	0.34351	T	0.127	0.43462	T	10	0.069399655	0.09953	T	0.034011	0.55380	D	0.057	0.16321	.	.	0.18274738541	0.17906	0.28407015207325814	0.28320	0.0776506249003	0.08735	0.300908058882	0.10536	T	0.005762	0.05208	T	-0.248695	0.14258	T	-0.402018	0.33148	T	0.077439167359099	0.09656	T	0.50435	0.15896	T	0.08775662	0.20447	0.06706658	0.13825	0.08775662	0.20447	0.06706658	0.13825	-6.134	0.47387	T	.	.	0.123	0.25882	B	.	.	2.872729	0.37987	20.6	0.95089363539488703	0.26151	0.52621	0.29175	D	AEFI	0.087935	0.17828	N	-0.28934100265893	0.29559	1.640272	-0.331051182149889	0.27102	1.501512	3.96203994645916E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.87	2.41	0.28644	2.141000	0.41792	3.882000	0.40245	-0.182000	0.10109	0.992000	0.37556	0.997000	0.33255	0.969000	0.54022	0.7222:0.1819:0.0959:0.0	5.156	0.14365	690	0.58899	PWWP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000506	0.000000	0.000000	0.002959	0.000000	0.000000	0.000000	0.000000	0.08333	165.29	6	chr3	28478826	.	A	C	165.29	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.19;DP=83;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.786;SOR=1.022	GT:AD:DP:GQ:PL	0/1:8,7:15:99:175,0,181	5	0	1	1
chr3	37329075	37329075	A	T	exonic	GOLGA4	.	nonsynonymous SNV	GOLGA4:NM_002078:exon16:c.A6174T:p.R2058S,GOLGA4:NM_001172713:exon17:c.A6240T:p.R2080S	.	455	1036	27	4	0	35	0.0166113	.	.	.	166001	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.103	.	0.0076	0.00938498	0.0070	0.0156	0.0036	0.0001	0.0002	0.0039	0.0090	0.0229	0.0066041	1021	154602	rs11924014	0.0056	0.0056	0.0049	0.0063	0.0344	0.0055	0.0054	0.0304	0.0289	0.0181	0.0038	0.0026	5.072e-05	0.0003	0.0344	0.0042	0.0061	0.0238	0.0079	0.0079	0.0078	0.0080	0.0224	0.0075	0.0074	0.0189	0.0177	0.0162	0	0.0063	0.0026	0.0004	0.0003	0.0374	0.0041	0.0076	0.0224	0.004	0.65419	D	0.006	0.70582	D	0.236	0.30770	B	0.11	0.31460	B	0.001272	0.39594	N	0.000000	0.936566	0.81001	D	2.045	0.56016	M	1.72	0.26588	T	-2.48	0.54059	N	0.445	0.48319	-1.0659	0.10339	T	0.038	0.16246	T	10	0.006607026	0.00150	T	.	.	.	0.103	0.29403	0.112	0.02175	0.346992582518	0.34303	0.341532120676236	0.34066	0.120382308291	0.13557	0.363515198231	0.19897	T	0.165586	0.51149	T	-0.498331	0.00584	T	-0.470341	0.25479	T	0.0281765396883818	0.01713	T	0.928407	0.73561	D	0.18168189	0.39350	0.18456519	0.41516	0.18168189	0.39350	0.18456519	0.41516	-3.646	0.20387	T	.	.	0.486	0.66824	A	.;.;.	.;.;.	3.224906	0.43955	21.8	0.98689621179436293	0.44738	0.92446	0.55731	D	AEFBI	0.554194	0.56514	D	-0.04092981129833	0.40009	2.368753	0.0529901764038133	0.42217	2.549674	0.999893492540626	0.45129	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.7	5.7	0.88690	2.706000	0.46803	8.014000	0.76202	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.928:0.0:0.072:0.0	11.071	0.47220	227	0.91186	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.033300	0.010204	0.046322	0.073099	0.000000	0.034483	0.006098	0.015152	0.1429	1913.27	30	chr3	37329075	.	A	T	1913.27	.	AC=2;AF=0.143;AN=14;DP=235;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.56;SOR=0.99	GT:AD:DP:GQ:PL	1/1:0,67:67:99:1934,201,0	6	1	0	0
chr3	37417585	37417585	G	T	exonic	C3orf35	.	nonsynonymous SNV	C3orf35:NM_178344:exon4:c.G319T:p.G107C,C3orf35:NM_001302831:exon5:c.G319T:p.G107C,C3orf35:NM_001302832:exon5:c.G319T:p.G107C,C3orf35:NM_178342:exon5:c.G319T:p.G107C	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00259167471221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277954231	1.711e-06	2.052e-06	0	3.478e-06	2.551e-05	2.8e-07	1.1e-07	4.23e-06	1.59e-06	0	0	0	0	0	0	0	0	2.551e-05	6.57e-06	6.563e-06	0	1.344e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	847.63	34	chr3	37417585	.	G	T	847.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.661;DP=270;ExcessHet=0;FS=2.741;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-0.395;SOR=1	GT:AD:DP:GQ:PL	0/1:55,39:94:99:858,0,1383	6	0	1	0
chr3	38707286	38707286	C	T	exonic	SCN10A	.	nonsynonymous SNV	SCN10A:NM_001293307:exon24:c.G4085A:p.R1362Q,SCN10A:NM_001293306:exon25:c.G4376A:p.R1459Q,SCN10A:NM_006514:exon25:c.G4379A:p.R1460Q	Episodic pain syndrome, familial, 2, Autosomal dominant	7	1511	4	0	0	4	0.00132188	.	.	.	393571	not_provided|Brugada_syndrome|SCN10A-related_disorder|Cardiovascular_phenotype	MedGen:C3661900|MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|.|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.838	.	7.7e-05	0.00199681	0.0010	0	0	0	0	4.5e-05	0	0.0071	0.0008409	130	154602	rs369399424	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0004	0.0070	0.0068	0	0	0	2.519e-05	0	0.0012	1.889e-05	0.0007	0.0075	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0.0003	0	0	0	1.47e-05	0	0.0068	0.0	0.91255	D	0.014	0.62352	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.99974	0.48716	D	4.13	0.97473	H	-3.94	0.96143	D	-3.84	0.72240	D	0.62	0.63544	1.094	0.99390	D	0.959	0.98680	D	10	0.013541609	0.00287	T	.	.	.	0.838	0.94914	.	.	0.865298002018	0.86399	0.6739338251667473	0.67331	0.350731744755	0.36920	0.645585298538	0.59358	T	0.605675	0.87427	D	0.0298524	0.55704	T	0.275091	0.86856	D	0.222073244220377	0.21567	T	0.989645	0.96613	D	0.8100671	0.84558	0.69341147	0.81953	0.8455626	0.87011	0.7288829	0.83983	-9.596	0.71455	D	.	.	0.427	0.67315	A	.;.;.;.	.;.;.;.	4.820940	0.78525	26.9	0.9994893657404067	0.99931	0.98888	0.88198	D	AEFBI	0.895854	0.83631	D	1.03692380619261	0.96772	15.12291	0.921798411574668	0.96455	14.71647	0.999999999681258	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.16	5.16	0.70563	7.858000	0.85341	7.734000	0.67822	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	0.0:1.0:0.0:0.0	18.847	0.92181	809	0.43032	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.000000	0.002717	0.008876	0.000000	0.000000	0.000000	0.000000	0.08333	512.27	28	chr3	38707286	.	C	T	512.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.02;DP=207;ExcessHet=0;FS=2.78;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.268;SOR=0.735	GT:AD:DP:GQ:PL	0/1:21,18:39:99:522,0,518	5	0	1	1
chr3	41754391	41754391	C	G	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon21:c.G1385C:p.R462P,ULK4:NM_001322500:exon22:c.G2291C:p.R764P,ULK4:NM_017886:exon22:c.G2291C:p.R764P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0209990958312	.	.	8.296e-06	0	0	0	0	0	0	6.072e-05	6.5e-06	1	154602	rs769852192	2.739e-06	2.736e-06	1.362e-06	4.13e-06	0.0003	6.4e-07	4.3e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	1.657e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.279	0.15561	T	0.293	0.20811	T	0.011	0.15914	B	0.011	0.15521	B	0.012665	0.29095	U	0.299368	0.669586	0.30376	N	1.79	0.46772	L	0.6	0.53731	T	-1.79	0.42191	N	0.638	0.65074	-1.0690	0.09634	T	0.101	0.37468	T	10	0.5488592	0.64140	D	0.020999	0.43698	T	0.205	0.49236	0.634	0.77032	0.420080204436	0.41628	0.631771778815263	0.63111	0.0456806916263	0.04958	0.219113022089	0.01259	T	0.006699	0.06126	T	-0.091954	0.37752	T	-0.269232	0.47897	T	0.375071376562119	0.27993	T	0.80392	0.45144	T	0.38114637	0.59399	0.3736809	0.62550	0.38114637	0.59399	0.3736809	0.62550	-8.925	0.67213	D	.	.	0.168	0.36966	B	.	.	1.627208	0.20777	14.91	0.96723888732433372	0.30858	0.46743	0.27828	N	AEFI	0.362453	0.45170	N	-0.641926205349217	0.17695	0.9127721	-0.52408246341318	0.21501	1.163363	1.77810844576438E-4	0.05786	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.3	2.34	0.28071	0.977000	0.29072	1.399000	0.26181	-0.182000	0.10109	0.658000	0.28243	0.885000	0.27754	0.914000	0.44937	0.0:0.4229:0.0:0.5771	7.217	0.25143	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	223.63	23	chr3	41754391	.	C	G	223.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.099;DP=160;ExcessHet=0;FS=1.744;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.72;ReadPosRankSum=-0.248;SOR=1.402	GT:AD:DP:GQ:PL	0/1:13,10:23:99:234,0,338	6	0	1	0
chr3	44901672	44901672	G	A	exonic	TGM4	.	stopgain	TGM4:NM_003241:exon7:c.G806A:p.W269X	.	428	1034	59	1	0	61	0.0286519	.	.	YES	1174741	Essential_tremor	MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.0070	0.00519169	0.0084	0.0008	0.0054	0.0001	0.0114	0.0096	0.0177	0.0129	0.0079365	1227	154602	rs139860990	0.0078	0.0079	0.0074	0.0083	0.0359	0.0077	0.0077	0.0319	0.0303	0.0016	0.0072	0.0216	5.038e-05	0.0114	0.0359	0.0070	0.0100	0.0148	0.0079	0.0079	0.0074	0.0084	0.0138	0.0075	0.0074	0.0123	0.0117	0.0013	0.0647	0.0138	0.0213	0.0002	0.0119	0.0408	0.0087	0.0085	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	0.000516	0.43753	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26044	0.79570	D	0.613004	0.97331	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.758159	0.95693	35	0.98430627671716242	0.41397	0.94692	0.62003	D	AEFDBI	0.051856	0.09201	N	0.265486187549569	0.54408	3.606505	-0.0550447570393013	0.37272	2.180135	0.999722947169698	0.42220	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.83	1.91	0.24841	5.428000	0.66226	2.333000	0.32207	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.0:0.1757:0.8243:0.0	12.091	0.53024	314	0.87270	Transglutaminase-like|Transglutaminase-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.035354	0.029891	0.023392	0.000000	0.043103	0.018293	0.011364	0.07143	1118.53	43	chr3	44901672	.	G	A	1118.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.523;DP=273;ExcessHet=0;FS=7.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.336;SOR=0.993	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1129,0,966	6	0	1	0
chr3	45112397	45112397	G	A	exonic	CDCP1	.	nonsynonymous SNV	CDCP1:NM_022842:exon3:c.C341T:p.S114L,CDCP1:NM_178181:exon3:c.C341T:p.S114L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.010210286981	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs554995721	9.577e-06	9.577e-06	1.225e-05	6.875e-06	2.987e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	0	0	0	0	0	8.993e-06	3.311e-05	1.159e-05	1.314e-05	1.313e-05	0	2.69e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	1.47e-05	0	0	0.158	0.23997	T	0.222	0.28764	T	0.516	0.37437	P	0.084	0.29521	B	0.650147	0.10520	N	0.814480	1	0.08975	N	2.28	0.64929	M	1.83	0.48460	T	-1.96	0.45404	N	0.13	0.12913	-1.0185	0.24204	T	0.122	0.42399	T	10	0.14941293	0.28278	T	0.01021	0.26478	T	0.064	0.18567	0.304	0.27325	0.594790727895	0.59157	0.4011213009727611	0.40027	0.32985683525	0.35084	0.337590366602	0.16077	T	0.098324	0.40203	T	-0.175133	0.24462	T	-0.489343	0.23461	T	0.322907358407974	0.25939	T	0.820318	0.47908	T	0.07892651	0.18002	0.08806968	0.20513	0.07892651	0.18002	0.08806968	0.20512	-3.974	0.23413	T	.	.	0.104	0.20625	B	.;.	.;.	2.137615	0.27216	17.39	0.9589995656845498	0.28128	0.36542	0.25557	N	AEFBCI	0.294372	0.40476	N	-0.362144028860103	0.26829	1.467223	-0.407090553812551	0.24789	1.359428	0.99999903450297	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.616125	0.45549	0	.	.	5.6	4.73	0.59485	3.845000	0.55590	5.569000	0.48938	0.676000	0.76740	0.508000	0.27017	0.981000	0.30433	0.134000	0.19723	0.0824:0.0:0.9176:0.0	12.296	0.54167	641	0.64016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1319.49	36	chr3	45112397	.	G	A	1319.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.218;DP=278;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=0.821;SOR=0.519	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1330,0,802	6	0	1	0
chr3	47417407	47417407	C	A	exonic	SCAP	.	nonsynonymous SNV	SCAP:NM_001320044:exon14:c.G2099T:p.G700V,SCAP:NM_012235:exon17:c.G2867T:p.G956V	.	423	1086	13	0	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.235139173524	0.0005	0.000199681	0.0017	0.0005	0.0023	0	0	0.0013	0.0038	0.0028	0.0005692	88	154602	rs368667083	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0005	0.0023	0.0022	3.084e-05	0.0005	0.0006	8.053e-05	4.04e-05	0.0028	0.0004	0.0005	0.0026	0.0005	0.0005	0.0005	0.0005	0.0025	0.0004	0.0003	0.0014	0.0011	9.66e-05	0	0.0003	0.0009	0	0	0.0034	0.0006	0.0005	0.0025	0.029	0.45756	D	0.041	0.50514	D	0.007	0.14184	B	0.009	0.14300	B	0.081655	0.20854	N	0.511250	0.99995	0.58761	D	1.245	0.31408	L	-1.31	0.79666	T	-0.66	0.19085	N	0.356	0.39760	-0.7611	0.57345	T	0.280	0.65149	T	10	0.011494696	0.00251	T	0.235139	0.88442	D	0.026	0.05648	.	.	0.781689837656	0.77967	0.3237896988971577	0.32291	0.302057614253	0.32536	0.559126377106	0.47145	T	0.304556	0.67686	T	-0.318287	0.07039	T	-0.2349	0.51294	T	0.0122834131688905	0.00199	T	0.810219	0.46129	T	0.121218935	0.28510	0.109434545	0.26374	0.121218935	0.28510	0.109434545	0.26374	-5.842	0.44939	T	.	.	0.073	0.10256	B	.;.;.	.;.;.	1.972875	0.25064	16.63	0.96176023955323708	0.28945	0.87700	0.47328	D	AEFDBCI	0.489897	0.52761	N	-0.367827771219007	0.26622	1.454346	-0.220538961092951	0.30800	1.737378	0.999998161190436	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.66	3.78	0.42629	1.933000	0.39783	0.952000	0.22930	0.585000	0.30472	1.000000	0.71638	0.996000	0.32793	0.359000	0.25863	0.0:0.7627:0.1543:0.0831	8.495	0.32282	20	0.98525	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001518	0.000000	0.002725	0.000000	0.000000	0.000000	0.000000	0.003817	0.08333	743.27	32	chr3	47417407	.	C	A	743.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.989;DP=203;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.598;SOR=0.713	GT:AD:DP:GQ:PL	0/1:17,30:47:99:753,0,463	5	0	1	1
chr3	48589399	48589399	C	T	exonic	COL7A1	.	nonsynonymous SNV	COL7A1:NM_000094:exon18:c.G2242A:p.E748K	EBD inversa, Autosomal recessive;EBD, Bart type, Autosomal dominant;EBD, localisata variant (3);Epidermolysis bullosa dystrophica, AD, Autosomal dominant;Epidermolysis bullosa dystrophica, AR, Autosomal recessive;Epidermolysis bullosa pruriginosa, Autosomal recessive, Autosomal dominant;Epidermolysis bullosa, pretibial, Autosomal recessive, Autosomal dominant;Toenail dystrophy, isolated, Autosomal dominant;Transient bullous of the newborn, Autosomal recessive, Autosomal dominant	1	1460	56	5	0	66	0.0221031	.	.	.	251202	not_specified|not_provided|Epidermolysis_bullosa_dystrophica	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0006543,MedGen:C0079294,Orphanet:303	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.194	.	0.0009	0.00379393	0.0033	0.0002	0.0018	0	0	0.0014	0.0011	0.0172	0.0028978	448	154602	rs148411473	0.0018	0.0018	0.0012	0.0024	0.0184	0.0018	0.0017	0.0176	0.0173	0.0003	0.0011	0.0009	0	1.888e-05	0.0141	0.0007	0.0027	0.0184	0.0015	0.0015	0.0012	0.0018	0.0151	0.0013	0.0013	0.0123	0.0113	7.222e-05	0	0.0044	0.0006	0	0	0.0204	0.0011	0.0009	0.0151	0.231	0.18246	T	0.139	0.33666	T	0.959	0.55135	D	0.777	0.57175	P	0.005376	0.32858	N	0.135690	0.508456	0.31667	N	1.9	0.50570	L	0.4	0.57261	T	-0.62	0.18248	N	0.491	0.52475	-0.5244	0.67752	T	0.229	0.59497	T	10	0.011641651	0.00254	T	.	.	.	0.194	0.47447	.	.	0.824655765994	0.82299	0.3013747926667479	0.30050	0.280732358232	0.30549	0.526489496231	0.42541	T	0.117249	0.43719	T	-0.330449	0.06078	T	-0.233164	0.51465	T	0.015706234838433	0.00362	T	0.789521	0.42989	T	0.0975243	0.22990	0.11257368	0.27163	0.0975243	0.22990	0.11257368	0.27163	-7.264	0.55939	T	0.14660050217181989	0.16924	0.135	0.29367	B	.	.	2.133117	0.27159	17.37	0.99226725419442319	0.56089	0.53863	0.29475	D	AEFDBCI	0.204462	0.33089	N	0.353590615966237	0.58928	4.068354	0.303934232186075	0.55768	3.739905	0.999996664336923	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.604944	0.38103	0	.	.	5.26	5.26	0.73479	0.947000	0.28680	2.714000	0.34259	0.599000	0.40250	0.407000	0.26226	0.994000	0.32194	0.878000	0.41950	0.0:0.9099:0.0:0.0901	10.354	0.43134	11	0.98996	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.000000	0.016304	0.023392	0.000000	0.008621	0.021341	0.022727	0.07143	1279.53	38	chr3	48589399	.	C	T	1279.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.846;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=-2.154;SOR=0.766	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1290,0,1564	6	0	1	0
chr3	49163967	49163967	G	A	exonic	CCDC71	.	nonsynonymous SNV	CCDC71:NM_022903:exon2:c.C242T:p.P81L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0099956692643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.005	0.72224	D	0.976	0.58310	D	0.723	0.54990	P	0.000650	0.42656	D	0.160146	0.99986	0.50061	D	2.4	0.69460	M	1.12	0.38718	T	-5.65	0.86988	D	0.232	0.26111	-0.7700	0.56857	T	0.187	0.53722	T	10	0.33536372	0.50695	T	0.009996	0.26012	T	0.203	0.48915	0.504	0.59770	0.662707445969	0.65987	0.44548873718044074	0.44466	0.340530058476	0.35994	0.569285273552	0.48577	T	0.115471	0.43408	T	-0.133627	0.30909	T	-0.429723	0.29966	T	0.949472784996033	0.63122	D	0.820618	0.47957	T	0.1531435	0.34727	0.30356106	0.56387	0.1531435	0.34727	0.30356106	0.56386	-3.696	0.19259	T	.	.	0.310	0.53755	B	.	.	3.985560	0.58615	24.0	0.99587960744515758	0.73395	0.82227	0.41487	D	AEFGBCI	0.484297	0.52438	N	0.692815351659993	0.79161	7.01974	0.704634081692818	0.82732	7.840176	0.999999973507561	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	5.316000	0.65599	9.995000	0.83008	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.8534:0.1466	14.510	0.67368	0	0.99858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2047.44	35	chr3	49163967	.	G	A	2047.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.587;DP=369;ExcessHet=0;FS=7.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-0.116;SOR=1.218	GT:AD:DP:GQ:PL	0/1:91,80:171:99:2058,0,2256	6	0	1	0
chr3	49419325	49419325	C	T	exonic	AMT	.	nonsynonymous SNV	AMT:NM_001164710:exon5:c.G499A:p.E167K,AMT:NM_001164711:exon5:c.G463A:p.E155K,AMT:NM_000481:exon6:c.G631A:p.E211K,AMT:NM_001164712:exon6:c.G631A:p.E211K	Glycine encephalopathy, Autosomal recessive	0	1424	94	4	0	102	0.0345763	.	.	.	452827	Glycine_encephalopathy|not_specified|not_provided	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.077	.	0.0065	0.0071885	0.0110	0.0012	0.0059	0	0.0136	0.0125	0.0203	0.0191	0.0104591	1617	154602	rs116192290	0.0089	0.0089	0.0083	0.0095	0.0270	0.0087	0.0087	0.0236	0.0223	0.0012	0.0066	0.0194	7.557e-05	0.0116	0.0270	0.0082	0.0102	0.0182	0.0079	0.0079	0.0078	0.0081	0.0174	0.0075	0.0074	0.0144	0.0133	0.0018	0.0219	0.0074	0.0170	0	0.0131	0.0272	0.0099	0.0137	0.0174	0.661	0.13262	T	0.8	0.04142	T	0.019	0.17989	B	0.023	0.19966	B	0.016838	0.27876	N	0.416320	0.655655	0.36667	D	0.19	0.09125	N	-1.73	0.83327	D	-1.46	0.37375	N	0.179	0.30118	-0.9990	0.30199	T	0.063	0.26136	T	10	0.008803636	0.00199	T	.	.	.	0.437	0.74164	.	.	.	.	0.6177274581730304	0.61705	0.234613189541	0.26000	0.587630629539	0.51160	T	0.595225	0.86947	D	-0.199244	0.20915	T	-0.0440396	0.67427	D	0.00989505753933275	0.00131	T	0.948205	0.80130	D	0.3693229	0.58535	0.14150867	0.33697	0.3693229	0.58535	0.14150867	0.33696	-6.095	0.48405	T	0.12287218848646665	0.11830	0.133	0.35034	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.845707	0.37553	20.5	0.99527904960598856	0.69653	0.64042	0.32280	D	AEFDGBCI	0.282641	0.39593	N	0.0923306099819885	0.46106	2.856147	0.178970971326757	0.48694	3.082081	0.999999700014168	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.508809	0.08732	0	.	.	5.43	3.64	0.40864	2.567000	0.45619	3.305000	0.37415	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.827:0.0:0.173	9.263	0.36786	1	0.99630	Aminomethyltransferase, folate-binding domain;.;.;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;Aminomethyltransferase, folate-binding domain;.;.	.	.	.	.	rs116192290	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021148	0.010101	0.020380	0.026316	0.000000	0.008621	0.024390	0.026515	0.07143	1853.49	33	chr3	49419325	.	C	T	1853.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.76;DP=330;ExcessHet=0;FS=6.549;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=0.042;SOR=1.225	GT:AD:DP:GQ:PL	0/1:78,67:145:99:1864,0,1911	6	0	1	0
chr3	49661938	49661938	A	G	exonic	BSN	.	nonsynonymous SNV	BSN:NM_003458:exon6:c.A10093G:p.M3365V	.	431	1077	13	1	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00996586508334	0.0005	0.000798722	0.0009	9.673e-05	0.0007	0	0	0.0006	0.0011	0.0037	0.0008473	131	154602	rs146951422	0.0006	0.0006	0.0005	0.0008	0.0092	0.0006	0.0006	0.0072	0.0065	0.0002	0.0005	0.0003	0	1.881e-05	0.0092	0.0004	0.0013	0.0043	0.0005	0.0005	0.0004	0.0005	0.0031	0.0004	0.0003	0.0019	0.0015	2.404e-05	0	0.0003	0.0006	0.0002	9.409e-05	0.0034	0.0006	0.0009	0.0031	0.011	0.55530	D	0.331	0.18505	T	0.08	0.24543	B	0.015	0.17295	B	0.000001	0.84330	D	0.090240	0.999925	0.51308	D	2.495	0.72670	M	2.17	0.19020	T	-0.4	0.13805	N	0.356	0.39760	-1.1143	0.02725	T	0.052	0.22269	T	10	0.009584099	0.00216	T	0.009966	0.25946	T	0.070	0.20419	.	.	0.259504319725	0.25562	0.35587163721322407	0.35501	0.282224212883	0.30686	0.645524144173	0.59349	T	0.130688	0.45973	T	-0.426116	0.01565	T	-0.386018	0.35017	T	0.040544319952568	0.03789	T	0.743426	0.36288	T	0.3934922	0.60278	0.2742302	0.53350	0.3934922	0.60279	0.2742302	0.53349	-3.077	0.11033	T	.	.	0.083	0.09239	B	.	.	2.340571	0.29995	18.30	0.86644216999345014	0.16675	0.92648	0.56208	D	AEFDBI	0.476513	0.51990	N	-0.0556828126491192	0.39348	2.319012	0.082258024400274	0.43657	2.662931	0.999999177194443	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	5.49	4.3	0.50540	3.659000	0.54227	3.533000	0.38964	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.8575:0.1425:0.0:0.0	12.226	0.53775	1	0.99630	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.000000	0.008152	0.017544	0.000000	0.008621	0.012195	0.011364	0.07143	1514.44	38	chr3	49661938	.	A	G	1514.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.382;DP=361;ExcessHet=0;FS=0.593;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.41;ReadPosRankSum=-0.036;SOR=0.797	GT:AD:DP:GQ:PL	0/1:91,70:161:99:1525,0,2222	6	0	1	0
chr3	49899193	49899193	G	A	exonic	MST1R	.	nonsynonymous SNV	MST1R:NM_001244937:exon2:c.C1301T:p.S434L,MST1R:NM_002447:exon2:c.C1301T:p.S434L	.	416	1068	37	1	0	39	0.017931	.	.	.	3191967	MST1R-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.039	0.00297458851459	0.0008	0.00139776	0.0018	9.623e-05	0.0016	0	0.0003	0.0013	0.0077	0.0061	0.0016171	250	154602	rs2230591	0.0012	0.0012	0.0009	0.0015	0.0175	0.0012	0.0011	0.0147	0.0137	2.987e-05	0.0009	0.0024	7.557e-05	0.0002	0.0175	0.0008	0.0019	0.0068	0.0009	0.0009	0.0008	0.0010	0.0068	0.0008	0.0007	0.0050	0.0044	0.0002	0	0.0005	0.0017	0	0.0002	0.0170	0.0011	0.0028	0.0068	0.634	0.05436	T	0.631	0.07316	T	0.0	0.02946	B	0.004	0.10090	B	0.285864	0.03862	N	1.389580	1	0.08975	N	0.22	0.09567	N	2.82	0.10871	T	-1.29	0.32387	N	0.098	0.09066	-0.9762	0.35860	T	0.008	0.02926	T	10	0.0058416724	0.00130	T	0.002975	0.06339	T	0.039	0.10176	.	.	0.12205267543	0.11705	0.5909671984149649	0.59026	0.16178190297	0.18257	0.258691132069	0.04736	T	0.087701	0.37999	T	-0.686297	0.00044	T	-0.755009	0.03294	T	0.00712579600347077	0.00081	T	0.707329	0.31793	T	0.07501784	0.16873	0.06977867	0.14744	0.11437104	0.27001	0.077430174	0.17248	-6.57	0.50823	T	.	.	0.089	0.12276	B	.;.	.;.	-0.363962	0.02350	0.255	0.78777275926638135	0.12448	0.13711	0.18009	N	AEFDGBHCI	0.177437	0.30467	N	-1.74925140978968	0.00682	0.02941146	-1.7299566151157	0.01011	0.04532415	0.999999999832608	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.604944	0.38103	0	.	.	5.82	-7.08	0.01404	-1.930000	0.01648	-0.788000	0.07426	-0.786000	0.03287	0.000000	0.06391	0.000000	0.08366	0.175000	0.21139	0.4178:0.1557:0.1291:0.2974	1.154	0.01681	1	0.99630	Sema domain|Sema domain|Sema domain|RON, Sema domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010574	0.005051	0.002717	0.020468	0.000000	0.000000	0.021341	0.022727	0.07143	2394.44	39	chr3	49899193	.	G	A	2394.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.654;DP=387;ExcessHet=0;FS=1.139;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.077;SOR=0.604	GT:AD:DP:GQ:PL	0/1:94,96:190:99:2405,0,2369	6	0	1	0
chr3	50295070	50295070	C	T	exonic	HYAL3	.	nonsynonymous SNV	HYAL3:NM_001200029:exon2:c.G533A:p.R178H,HYAL3:NM_001200030:exon2:c.G533A:p.R178H,HYAL3:NM_003549:exon2:c.G533A:p.R178H	.	417	1041	59	5	0	69	0.0320781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	.	0.0035	0.00539137	0.0053	0.0006	0.0045	0	0	0.0045	0.01	0.0171	0.004877	754	154602	rs139756596	0.0039	0.0039	0.0034	0.0044	0.0178	0.0038	0.0038	0.0170	0.0167	0.0007	0.0040	0.0331	0	7.569e-05	0.0168	0.0024	0.0061	0.0178	0.0032	0.0032	0.0030	0.0034	0.0170	0.0029	0.0028	0.0140	0.0129	0.0006	0	0.0041	0.0331	0	0.0002	0.0102	0.0027	0.0028	0.0170	0.004	0.65419	D	0.029	0.65728	D	1.0	0.90584	D	0.999	0.97372	D	0.000042	0.53742	U	0.069612	0.990805	0.81001	D	3.48	0.92553	M	1.72	0.26588	T	-3.56	0.68880	D	0.299	0.33796	-0.7459	0.58149	T	0.140	0.45922	T	10	0.006772101	0.00154	T	.	.	.	0.250	0.55888	.	.	0.104622674875	0.10061	0.7554816360088094	0.75495	0.737908363262	0.63085	0.288535296917	0.08710	T	0.446394	0.78906	T	-0.423238	0.01632	T	-0.367103	0.37227	T	0.0763690686936043	0.09517	T	0.819918	0.47811	T	0.22886135	0.45613	0.2439974	0.49856	0.22886135	0.45613	0.2439974	0.49855	-7.173	0.55288	T	.	.	0.107	0.22098	B	.;.;.;.	.;.;.;.	3.297172	0.45244	22.1	0.99949030492686874	0.99931	0.33740	0.24901	N	AEFBCI	.	.	.	0.351077098192796	0.58796	4.054184	0.17647269697279	0.48562	3.07037	0.999997892522706	0.74766	0.615465	0.37627	0	0.550933	0.16991	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.74	2.89	0.32713	0.397000	0.20608	1.098000	0.24042	-0.186000	0.09761	0.024000	0.20007	0.869000	0.27571	0.945000	0.48827	0.0:0.8124:0.0:0.1876	9.003	0.35256	3	0.99430	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015106	0.005051	0.012228	0.029240	0.000000	0.017241	0.018293	0.015152	0.1429	2154.29	34	chr3	50295070	.	C	T	2154.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.03;DP=316;ExcessHet=0.3476;FS=1.876;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.52;SOR=0.581	GT:AD:DP:GQ:PL	0/1:40,38:78:99:901,0,879	5	0	2	0
chr3	50302196	50302196	C	A	exonic	HYAL1	.	nonsynonymous SNV	HYAL1:NM_033159:exon2:c.G761T:p.G254V,HYAL1:NM_153282:exon2:c.G761T:p.G254V,HYAL1:NM_153283:exon2:c.G215T:p.G72V,HYAL1:NM_153281:exon4:c.G761T:p.G254V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0433868190172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.026	0.55759	D	0.998	0.73220	D	0.96	0.70309	D	0.000043	0.53742	D	0.161330	1	0.81001	D	2.985	0.85602	M	1.91	0.23283	T	-3.74	0.71042	D	0.243	0.30800	-0.9239	0.45013	T	0.144	0.46732	T	10	0.22635996	0.39489	T	0.043387	0.60956	D	0.176	0.44373	0.536	0.64585	0.370424759081	0.36655	0.8171004189066058	0.81666	0.50988881724	0.49125	0.301397740841	0.10609	T	0.623874	0.88250	D	-0.106906	0.35280	T	-0.39134	0.34395	T	0.987611711025238	0.78075	D	0.782522	0.41827	T	0.65775895	0.75779	0.31777048	0.57749	0.65775895	0.75780	0.31777048	0.57749	-7.999	0.66230	D	.	.	0.182	0.39865	B	.;.;.;.;.;.	.;.;.;.;.;.	4.228273	0.64011	24.7	0.99709552362893772	0.81213	0.31240	0.24287	N	AEFGBCI	0.339018	0.43630	N	0.133650565890316	0.48038	3.021323	0.0355613493111284	0.41378	2.485002	0.999998073253066	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.645665	0.59343	0	.	.	5.46	4.59	0.56297	0.380000	0.20331	2.169000	0.31039	-0.176000	0.10722	0.051000	0.21449	0.998000	0.33993	0.800000	0.37734	0.157:0.7624:0.0:0.0806	8.090	0.29956	3	0.99430	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	977.49	33	chr3	50302196	.	C	A	977.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.04;DP=296;ExcessHet=0;FS=4.845;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=-0.756;SOR=1.036	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,41:107:99:1|0:50302191_C_T:988,0,2648:50302191	6	0	1	0
chr3	56682964	56682964	C	T	exonic	TASOR	.	nonsynonymous SNV	TASOR:NM_001112736:exon1:c.G43A:p.A15T,TASOR:NM_001363940:exon1:c.G43A:p.A15T,TASOR:NM_001365635:exon1:c.G43A:p.A15T,TASOR:NM_001365636:exon1:c.G43A:p.A15T,TASOR:NM_001365637:exon1:c.G43A:p.A15T,TASOR:NM_001365638:exon1:c.G43A:p.A15T	.	405	1107	10	0	0	10	0.0044964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0893796143119	.	0.000998403	0.0010	0	0.0037	0	0	0.0012	0	0.0010	0.0003169	49	154602	rs200185070	0.0005	0.0005	0.0005	0.0005	0.0105	0.0005	0.0005	0.0084	0.0076	6.339e-05	0.0013	7.953e-05	0	2.086e-05	0.0105	0.0005	0.0007	0.0005	0.0006	0.0006	0.0006	0.0006	0.0025	0.0005	0.0005	0.0019	0.0016	0	0.0066	0.0025	0	0	0	0.0136	0.0005	0.0019	0.0008	0.176	0.22312	T	0.25	0.26467	T	0.004	0.12183	B	0.003	0.08700	B	.	.	.	.	0.991033	0.24091	N	.	.	.	2.85	0.10578	T	-0.84	0.23372	N	0.048	0.06587	-0.9625	0.38704	T	0.015	0.05801	T	9	0.0048616827	0.00104	T	0.08938	0.75316	D	0.049	0.13647	.	.	0.0675242888579	0.06100	0.3510005469028627	0.35014	0.254588077278	0.28029	0.786063790321	0.79844	T	.	.	.	-0.611536	0.00124	T	-0.696758	0.06004	T	0.0173214675942375	0.00472	T	0.716728	0.32905	T	.	.	.	.	.	.	.	.	-4.252	0.28260	T	.	.	0.079	0.07365	B	.;.	.;.	1.856436	0.23586	16.07	0.94939479387539727	0.25832	0.32408	0.24578	N	ALL	0.049264	0.08492	N	-1.04937161234138	0.07600	0.3535921	-1.03691033460803	0.08981	0.4443921	0.999999774128846	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.372554	0.06265	0	.	.	4.5	-2.33	0.06340	-0.203000	0.09440	0.378000	0.17749	-0.225000	0.07834	0.790000	0.29595	0.974000	0.29927	0.701000	0.34172	0.2498:0.3963:0.1221:0.2318	1.162	0.01696	239	0.90673	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007859	0.000000	0.004098	0.020661	0.000000	0.000000	0.010101	0.000000	0.07143	425.83	24	chr3	56682964	.	C	T	425.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.136;DP=190;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.325;SOR=0.525	GT:AD:DP:GQ:PL	0/1:20,20:40:99:436,0,440	6	0	1	0
chr3	66382387	66382387	C	T	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon9:c.G1501A:p.V501M,LRIG1:NM_001377348:exon9:c.G1474A:p.V492M,LRIG1:NM_001377349:exon9:c.G1219A:p.V407M,LRIG1:NM_001377344:exon15:c.G2428A:p.V810M,LRIG1:NM_001377345:exon16:c.G1723A:p.V575M,LRIG1:NM_001377346:exon16:c.G1723A:p.V575M,LRIG1:NM_015541:exon16:c.G2503A:p.V835M	.	429	1090	2	1	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.0447693986196	0.0002	0.000599042	0.0005	0	0	0	0	7.492e-05	0.0011	0.0030	0.0003946	61	154602	rs143299609	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	2.236e-05	0	7.557e-05	0	0.0005	2.788e-05	0.0004	0.0028	0.0001	0.0001	7.711e-05	0.0001	0.0029	6.507e-05	5.32e-05	0.0018	0.0014	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0029	0.015	0.59928	D	0.013	0.63109	D	0.999	0.77913	D	0.893	0.68939	P	0.000007	0.62929	D	0.062472	0.999311	0.81001	D	2.565	0.75005	M	-0.26	0.67874	T	-1.09	0.28290	N	0.662	0.67132	-0.1218	0.79592	T	0.462	0.79134	T	10	0.025908291	0.00771	T	0.044769	0.61651	D	0.235	0.53788	.	.	0.499901089381	0.49625	0.341288359595201	0.34041	0.435177631789	0.43630	0.76679033041	0.76943	T	0.205983	0.56519	T	-0.264599	0.12366	T	-0.155906	0.58717	T	0.118271664360751	0.14260	T	.	.	.	0.07772254	0.17659	0.12636796	0.30434	0.07772254	0.17658	0.12636796	0.30434	-4.725	0.33705	T	.	.	0.193	0.56185	B	.;.	.;.	4.847275	0.79201	27.1	0.99894556607320817	0.96819	0.91200	0.53056	D	AEFDBCI	0.543337	0.55870	D	0.640194694128934	0.75735	6.358895	0.628220792001493	0.76996	6.595434	0.999999942806921	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	4.148000	0.57856	3.315000	0.37496	0.599000	0.40250	0.999000	0.42656	0.998000	0.33993	0.946000	0.48989	0.0:1.0:0.0:0.0	19.717	0.96119	800	0.44535	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	656.53	60	chr3	66382387	.	C	T	656.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.77;DP=323;ExcessHet=0;FS=1.969;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.11;ReadPosRankSum=1.12;SOR=1.025	GT:AD:DP:GQ:PL	0/1:53,28:81:99:667,0,1217	6	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	10882.8	91	chr3	75730451	.	T	G	10882.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.742;DP=592;ExcessHet=3.6764;FS=3.315;MLEAC=7;MLEAF=0.5;MQ=54.76;MQRankSum=-5.737;QD=20.57;ReadPosRankSum=0.391;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,54:114:99:0|1:75730450_C_T:2060,0,2338:75730450	1	1	5	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	667.31	49	chr3	75730611	.	G	T	667.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.38;DP=365;ExcessHet=4.7409;FS=65.71;MLEAC=5;MLEAF=0.357;MQ=56.75;MQRankSum=-7.384;QD=2.17;ReadPosRankSum=-2.389;SOR=6.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,10:72:99:0|1:75730611_G_T:201,0,2517:75730611	2	0	5	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2416.31	91	chr3	75736884	.	G	GA	2416.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.592;DP=725;ExcessHet=4.7409;FS=3.225;MLEAC=5;MLEAF=0.357;MQ=56.69;MQRankSum=-6.418;QD=4.13;ReadPosRankSum=1.28;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,36:122:99:0|1:75736884_G_GA:1232,0,3434:75736884	2	0	5	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	6117.79	97	chr3	75736891	.	G	A	6117.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.958;DP=732;ExcessHet=6.1542;FS=3.524;MLEAC=5;MLEAF=0.417;MQ=56.66;MQRankSum=-6.731;QD=9.98;ReadPosRankSum=1.2;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,36:127:99:0|1:75736884_G_GA:1217,0,3596:75736884	1	0	5	1
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	6023.79	105	chr3	75736920	.	C	A	6023.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.206;DP=769;ExcessHet=6.1542;FS=1.251;MLEAC=5;MLEAF=0.417;MQ=55.16;MQRankSum=-6.694;QD=9.3;ReadPosRankSum=0.441;SOR=0.559	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,29:133:99:0|1:75736920_C_A:905,0,4171:75736920	1	0	5	1
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5966.79	110	chr3	75736928	.	C	T	5966.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.9;DP=764;ExcessHet=6.1542;FS=1.985;MLEAC=5;MLEAF=0.417;MQ=54.58;MQRankSum=-7.092;QD=9.27;ReadPosRankSum=-0.328;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,26:126:99:0|1:75736920_C_A:791,0,4096:75736920	1	0	5	1
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	3640.72	111	chr3	75736981	.	T	C	3640.72	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.791;DP=780;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=52.71;MQRankSum=-4.821;QD=5.67;ReadPosRankSum=-2.194;SOR=0.674	GT:AD:DP:GQ:PL	0/1:94,47:141:99:995,0,2561	1	0	5	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5397.79	132	chr3	75737012	.	C	T	5397.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.22;DP=798;ExcessHet=6.1542;FS=0;MLEAC=5;MLEAF=0.417;MQ=53.23;MQRankSum=-4.663;QD=8.1;ReadPosRankSum=-1.168;SOR=0.684	GT:AD:DP:GQ:PL	0/1:97,58:155:99:1204,0,3013	1	0	5	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	9255.85	148	chr3	75737060	.	A	G	9255.85	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.535;DP=881;ExcessHet=3.6764;FS=1.107;MLEAC=7;MLEAF=0.5;MQ=53.38;MQRankSum=-5.265;QD=12.32;ReadPosRankSum=1.24;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,87:189:99:0|1:75737060_A_G:3346,0,3985:75737060	1	1	5	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13633.8	135	chr3	75737092	.	C	T	13633.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.219;DP=904;ExcessHet=3.6764;FS=1.095;MLEAC=7;MLEAF=0.5;MQ=54.9;MQRankSum=-7.465;QD=17.59;ReadPosRankSum=0.982;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,102:219:99:0|1:75737060_A_G:3931,0,4606:75737060	1	1	5	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	13457.8	134	chr3	75737094	.	T	A	13457.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.999;DP=893;ExcessHet=3.6764;FS=1.104;MLEAC=7;MLEAF=0.5;MQ=55.1;MQRankSum=-7.727;QD=17.48;ReadPosRankSum=0.701;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,99:215:99:0|1:75737060_A_G:3808,0,4573:75737060	1	1	5	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	12688.8	128	chr3	75737105	.	T	A	12688.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.611;DP=850;ExcessHet=3.6764;FS=1.769;MLEAC=7;MLEAF=0.5;MQ=55.69;MQRankSum=-8.189;QD=16.96;ReadPosRankSum=0.071;SOR=0.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,92:208:99:0|1:75737060_A_G:3514,0,4561:75737060	1	1	5	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	10476.5	115	chr3	75737127	.	A	C	10476.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.467;DP=801;ExcessHet=8.2628;FS=3.274;MLEAC=6;MLEAF=0.429;MQ=56.32;MQRankSum=-7.966;QD=14.92;ReadPosRankSum=0.637;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,81:204:99:0|1:75737127_A_C:3031,0,4921:75737127	1	0	6	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	5788.44	92	chr3	75737163	.	CCTACATTCT	C	5788.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.039;DP=689;ExcessHet=8.2628;FS=6.808;MLEAC=6;MLEAF=0.429;MQ=56.82;MQRankSum=-7.58;QD=9.91;ReadPosRankSum=0.068;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,54:176:99:0|1:75737127_A_C:1900,0,4911:75737127	1	0	6	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	464.81	90	chr3	75737228	.	T	C	464.81	.	AC=2;AF=0.167;AN=12;BaseQRankSum=3.56;DP=570;ExcessHet=0.4139;FS=32.284;MLEAC=2;MLEAF=0.167;MQ=57.64;MQRankSum=-8.268;QD=2.61;ReadPosRankSum=-2.151;SOR=3.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,14:108:99:.:.:239,0,3816:.	4	0	2	1
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	17345.3	136	chr3	75737519	.	G	A	17345.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.36;DP=884;ExcessHet=4.7409;FS=3.313;MLEAC=5;MLEAF=0.357;MQ=55.92;MQRankSum=-5.949;QD=22.97;ReadPosRankSum=-0.619;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,105:164:99:.:.:4090,0,2068:.	2	0	5	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	19118.5	151	chr3	75737590	.	A	G	19118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.382;DP=1036;ExcessHet=8.2628;FS=1.103;MLEAC=6;MLEAF=0.429;MQ=52.32;MQRankSum=-10.59;QD=20.76;ReadPosRankSum=0.96;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,120:210:99:0|1:75737590_A_G:4663,0,3389:75737590	1	0	6	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20118.5	159	chr3	75737608	.	T	C	20118.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0;DP=1080;ExcessHet=8.2628;FS=0.522;MLEAC=6;MLEAF=0.429;MQ=52.21;MQRankSum=-11.48;QD=20.81;ReadPosRankSum=1.44;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,124:215:99:0|1:75737590_A_G:4933,0,3448:75737590	1	0	6	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20414.5	161	chr3	75737622	.	T	A	20414.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.071;DP=1104;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=52.69;MQRankSum=-11.03;QD=20.66;ReadPosRankSum=0.403;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,128:222:99:0|1:75737590_A_G:5092,0,3562:75737590	1	0	6	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	20048.5	160	chr3	75737651	.	G	A	20048.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.25;DP=1124;ExcessHet=8.2628;FS=1.1;MLEAC=6;MLEAF=0.429;MQ=53.82;MQRankSum=-10.07;QD=19.95;ReadPosRankSum=-0.18;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,118:224:99:0|1:75737590_A_G:4636,0,4096:75737590	1	0	6	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18382.8	143	chr3	75737676	.	A	T	18382.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.66;DP=1052;ExcessHet=3.6764;FS=3.172;MLEAC=7;MLEAF=0.5;MQ=54.49;MQRankSum=-8.507;QD=19.7;ReadPosRankSum=-0.816;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,102:209:99:0|1:75737590_A_G:3961,0,4186:75737590	1	1	5	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6783.1	144	chr3	75737840	.	C	T	6783.1	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.503;DP=1016;ExcessHet=1.4958;FS=8.807;MLEAC=6;MLEAF=0.5;MQ=58.64;MQRankSum=-4.22;QD=11.6;ReadPosRankSum=-0.374;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,63:207:99:0|1:75737814_C_T:2161,0,5665:75737814	1	1	4	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5482.48	133	chr3	75737881	.	T	C	5482.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.344;DP=923;ExcessHet=8.2628;FS=16.594;MLEAC=6;MLEAF=0.429;MQ=58.05;MQRankSum=-5.768;QD=6.98;ReadPosRankSum=-3.256;SOR=1.294	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,37:204:99:0|1:75737881_T_C:841,0,6647:75737881	1	0	6	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4137.44	128	chr3	75737891	.	G	GAAAT	4137.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.04;DP=874;ExcessHet=8.2628;FS=18.679;MLEAC=6;MLEAF=0.429;MQ=57.87;MQRankSum=-7.28;QD=5.55;ReadPosRankSum=-2.558;SOR=1.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,28:193:99:0|1:75737881_T_C:598,0,6719:75737881	1	0	6	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4099.44	122	chr3	75737893	.	A	ACTT	4099.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.181;DP=856;ExcessHet=8.2628;FS=19.985;MLEAC=6;MLEAF=0.429;MQ=57.78;MQRankSum=-7.524;QD=5.65;ReadPosRankSum=-2.157;SOR=1.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,28:187:99:0|1:75737881_T_C:616,0,6572:75737881	1	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	1321.76	158	chr3	75738008	.	C	T	1321.76	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.205;DP=1052;ExcessHet=1.1394;FS=1.764;MLEAC=3;MLEAF=0.214;MQ=57.58;MQRankSum=-11.86;QD=2.36;ReadPosRankSum=2.76;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,25:237:99:0|1:75737994_T_C:401,0,8727:75737994	4	0	3	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	854.73	132	chr3	75738053	.	C	A	854.73	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.637;DP=1037;ExcessHet=1.1394;FS=3.146;MLEAC=3;MLEAF=0.214;MQ=57.81;MQRankSum=-10.74;QD=1.6;ReadPosRankSum=-1.046;SOR=1.04	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:201,21:222:99:0|1:75737994_T_C:277,0,8377:75737994	4	0	3	0
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	345.5	120	chr3	75738071	.	A	G	345.5	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.678;DP=1014;ExcessHet=0.3476;FS=5.489;MLEAC=2;MLEAF=0.143;MQ=58.12;MQRankSum=-10.36;QD=0.89;ReadPosRankSum=-1.169;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,19:217:99:0|1:75737994_T_C:202,0,8257:75737994	5	0	2	0
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	161.24	121	chr3	75738074	.	G	A	161.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.546;DP=993;ExcessHet=0.3476;FS=7.822;MLEAC=2;MLEAF=0.143;MQ=58.24;MQRankSum=-9.777;QD=0.43;ReadPosRankSum=-0.957;SOR=1.942	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,16:209:91:0|1:75737994_T_C:91,0,8056:75737994	5	0	2	0
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	101.21	113	chr3	75738077	.	A	C	101.21	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.501;DP=975;ExcessHet=0.3476;FS=13.323;MLEAC=2;MLEAF=0.143;MQ=58.21;MQRankSum=-9.129;QD=0.28;ReadPosRankSum=-1.436;SOR=1.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,14:204:16:0|1:75737994_T_C:16,0,7936:75737994	5	0	2	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1141.66	74	chr3	75739165	.	C	T	1141.66	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.54;DP=575;ExcessHet=2.5225;FS=20.571;MLEAC=4;MLEAF=0.286;MQ=56.54;MQRankSum=-5.041;QD=3.23;ReadPosRankSum=-0.431;SOR=1.188	GT:AD:DP:GQ:PL	0/1:116,16:132:69:69,0,3280	3	0	4	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	2193.79	45	chr3	75739283	.	G	T	2193.79	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.377;DP=386;ExcessHet=6.1542;FS=4.771;MLEAC=5;MLEAF=0.417;MQ=54.1;MQRankSum=-3.42;QD=6.99;ReadPosRankSum=0.077;SOR=0.956	GT:AD:DP:GQ:PL	0/1:59,24:83:99:423,0,1564	1	0	5	1
chr3	78651836	78651836	A	G	exonic	ROBO1	.	nonsynonymous SNV	ROBO1:NM_001145845:exon18:c.T2600C:p.I867T,ROBO1:NM_133631:exon18:c.T2600C:p.I867T,ROBO1:NM_002941:exon19:c.T2708C:p.I903T	.	421	1100	1	0	0	1	0.000454339	.	.	.	1312148	Inborn_genetic_diseases|Congenital_anomaly_of_kidney_and_urinary_tract	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019719,MeSH:C566906,MedGen:C1968949,OMIM:PS610805,Orphanet:93545	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.363	0.0958957855335	.	.	6.628e-05	0.0003	0	0.0001	0	0	0	0.0002	5.17e-05	8	154602	rs746294354	3.558e-05	3.557e-05	3.268e-05	3.851e-05	0.0003	2.763e-05	2.502e-05	0.0002	0.0002	2.988e-05	0	0	5.038e-05	0	0	2.159e-05	3.313e-05	0.0003	5.258e-05	5.253e-05	5.139e-05	5.382e-05	0.0002	2.558e-05	1.83e-05	6.283e-05	4.3e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0002	0.013	0.53900	D	0.006	0.70582	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.042647	1	0.81001	D	1.95	0.52479	M	-0.04	0.63240	T	-3.45	0.67589	D	0.413	0.66615	-0.2147	0.77292	T	0.432	0.77316	T	9	0.39592096	0.55225	T	0.095896	0.76509	D	0.363	0.68319	.	.	0.888196944866	0.88709	0.6477200964534271	0.64707	0.182851890055	0.20557	0.858838260174	0.90939	D	0.451849	0.79241	T	0.0545752	0.58930	T	0.140941	0.79605	D	0.182013489960247	0.19362	T	0.894511	0.73102	D	0.33596757	0.55957	0.26617473	0.52459	0.33596757	0.55957	0.26617473	0.52458	-10.815	0.78633	D	.	.	0.558	0.71693	A	.;.;.;.;.;.	.;.;.;.;.;.	3.342948	0.46072	22.2	0.99251074518654936	0.56891	0.98154	0.80066	D	AEFBI	0.852170	0.76907	D	0.443083849758608	0.63811	4.622253	0.361087626824472	0.59178	4.093568	0.99999997677047	0.74766	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.668105	0.65232	0	.	.	6.08	6.08	0.98982	7.507000	0.80548	11.173000	0.88038	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	1.0:0.0:0.0:0.0	16.644	0.85012	724	0.55085	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1429	1385.65	33	chr3	78651836	.	A	G	1385.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.31;DP=291;ExcessHet=0.3476;FS=2.954;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=0.348;SOR=0.549	GT:AD:DP:GQ:PL	0/1:60,31:91:99:664,0,1397	5	0	2	0
chr3	98133151	98133151	G	C	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.G454C:p.G152R	.	437	1068	17	0	0	17	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.00748954570862	.	0.0061901	0.0001	0.0005	0	0.0004	0	6.09e-05	0	6.077e-05	0.001191	31	26028	rs62269699	5.485e-06	0.0004	1.365e-06	9.646e-06	3.489e-05	2.36e-06	1.71e-06	9.27e-06	4.57e-06	0	0	0	2.523e-05	0	0	3.605e-06	0	3.489e-05	0.0001	0.0012	9.045e-05	0.0001	0.0004	7.618e-05	6.315e-05	7.398e-05	4.317e-05	0.0001	0	0	0	0	0.0003	0	0.0001	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.005319	0.32910	N	0.139307	0.999993	0.08975	N	3.385	0.91502	M	1.03	0.40469	T	-7.88	0.96142	D	0.692	0.69737	-0.4953	0.68819	T	0.366	0.72635	T	10	0.045358837	0.03597	T	0.00749	0.19872	T	0.313	0.63482	.	.	0.668405542074	0.66561	0.45910202444397175	0.45828	0.978056266541	0.73627	0.322247475386	0.13761	T	0.016143	0.13402	T	-0.00370609	0.51143	T	-0.2431	0.50496	T	0.501703798770905	0.32692	D	0.968003	0.88371	D	0.8740408	0.89184	0.81504154	0.89221	0.8740408	0.89185	0.81504154	0.89222	-9.524	0.71008	D	.	.	0.722	0.73863	P	.;.	.;.	3.477003	0.48538	22.6	0.99625979717033541	0.75716	0.94413	0.61086	D	AEFI	0.561969	0.56974	D	0.437414757732708	0.63494	4.584072	0.186536109810743	0.49110	3.118092	0.0500893002353768	0.14827	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	1.191000	0.31747	.	.	0.435000	0.21004	0.016000	0.19238	0.177000	0.23390	0.002000	0.04165	0.0:0.0:1.0:0.0	12.662	0.56185	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003236	0.005263	0.002725	0.000000	0.000000	0.000000	0.006369	0.003817	0.07143	478.44	58	chr3	98133151	.	G	C	478.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.349;DP=680;ExcessHet=0;FS=2.55;MLEAC=1;MLEAF=0.071;MQ=48.07;MQRankSum=-8.2;QD=1.51;ReadPosRankSum=0.967;SOR=0.525	GT:AD:DP:GQ:PL	0/1:260,57:317:99:489,0,7315	6	0	1	0
chr3	98149839	98149839	G	C	exonic	OR5H14	.	nonsynonymous SNV	OR5H14:NM_001005514:exon1:c.G454C:p.G152R	.	437	1077	8	0	0	8	0.00370028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	.	.	.	0.0115	0.0137	0.0021	0.0179	0.0062	0.0087	0.0090	0.0270	0.0016905	44	26028	rs78410857	0.0004	0.0085	0.0004	0.0004	0.0010	0.0004	0.0004	0.0007	0.0006	0.0010	4.492e-05	3.86e-05	0.0004	9.418e-05	0.0002	0.0004	0.0004	0.0008	3.309e-05	0.0003	3.885e-05	2.707e-05	0.0002	1.268e-05	8.03e-06	1.948e-05	1.04e-05	7.347e-05	0	6.582e-05	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.005543	0.32703	N	0.140152	0.999857	0.20048	N	3.35	0.91085	M	1.03	0.40469	T	-7.85	0.96058	D	0.222	0.24883	-0.6297	0.63583	T	0.338	0.70420	T	10	0.00857386	0.00194	T	.	.	.	0.209	0.49871	.	.	.	.	0.5187554053031648	0.51798	0.0898496577551	0.10143	0.325279295444	0.14220	T	0.031164	0.21915	T	-0.0191416	0.48975	T	-0.265272	0.48296	T	0.157193166803508	0.17662	T	0.974003	0.90706	D	0.8919664	0.90676	0.84891206	0.91431	0.8919664	0.90678	0.84891206	0.91432	-9.422	0.70373	D	.	.	0.475	0.63443	A	.;.	.;.	3.698689	0.52737	23.3	0.99619230385724322	0.75293	0.85526	0.44667	D	AEFI	0.193363	0.32048	N	0.232495398458627	0.52779	3.450055	-0.0587603305820194	0.37115	2.168742	3.559475619944E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.49	2.49	0.29274	1.859000	0.39058	.	.	0.544000	0.25403	0.026000	0.20160	0.000000	0.08366	0.015000	0.10482	0.0:0.0:1.0:0.0	10.621	0.44673	773	0.48803	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032461	0.005155	0.028610	0.014493	0.000000	0.060345	0.042945	0.061538	0.07143	117.44	86	chr3	98149839	.	G	C	117.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.155;DP=924;ExcessHet=0;FS=6.047;MLEAC=1;MLEAF=0.071;MQ=48.91;MQRankSum=-6.745;QD=0.37;ReadPosRankSum=-2.574;SOR=0.366	GT:AD:DP:GQ:PL	0/1:276,44:320:99:128,0,7604	6	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	663.23	21	chr3	100775333	.	T	C	663.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.389;DP=165;ExcessHet=3.1439;FS=142.707;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=5.67;ReadPosRankSum=1.34;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,17:45:99:0|1:100775333_T_C:195,0,447:100775333	2	0	4	1
chr3	107747993	107747993	C	T	exonic	BBX	.	nonsynonymous SNV	BBX:NM_001142568:exon9:c.C779T:p.A260V,BBX:NM_001276286:exon9:c.C779T:p.A260V,BBX:NM_020235:exon9:c.C779T:p.A260V	.	432	1076	14	0	0	14	0.00646353	.	.	.	697736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.270	.	0.0012	0.00119808	0.0026	0.0005	0.0008	0	0.0008	0.0017	0.0055	0.0110	0.0022703	351	154602	rs150121801	0.0019	0.0019	0.0016	0.0022	0.0112	0.0018	0.0018	0.0106	0.0104	8.973e-05	0.0009	0.0024	2.524e-05	0.0004	0.0049	0.0014	0.0025	0.0112	0.0011	0.0011	0.0010	0.0012	0.0097	0.0010	0.0009	0.0075	0.0067	0.0001	0.0033	0.0008	0.0017	0	0.0003	0.0068	0.0012	0.0024	0.0097	0.275	0.46513	T	0.362	0.38160	T	0.05	0.28155	B	0.053	0.38054	B	0.671593	0.10337	N	0.864450	0.999996	0.08975	N	0.345	0.11182	N	-4.68	0.98998	D	-1.22	0.34795	N	0.109	0.13911	0.703	0.93215	D	0.910	0.97029	D	10	0.003517747	0.00063	T	.	.	.	0.270	0.58507	.	.	0.688640784998	0.68597	0.19134871666215023	0.19052	0.152041658609	0.17156	0.272841215134	0.06514	T	0.018017	0.14600	T	-0.259374	0.12973	T	-0.134961	0.60551	T	0.0108842420833424	0.00155	T	0.771723	0.40231	T	0.030109227	0.02617	0.041255217	0.04647	0.030109227	0.02617	0.041255217	0.04647	-2.96	0.09757	T	.	.	0.077	0.13221	B	.;.;.;.;.;.	.;.;.;.;.;.	0.940276	0.13156	9.660	0.99823293746469866	0.90590	0.03715	0.09002	N	AEFBI	0.032030	0.03539	N	-0.681523254211276	0.16548	0.8441102	-0.672924091218589	0.17640	0.9388232	0.047564392244602	0.14735	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.79	0.992	0.18937	0.460000	0.21635	0.907000	0.22596	0.599000	0.40250	0.015000	0.19116	0.992000	0.31684	0.761000	0.36181	0.0:0.5723:0.0:0.4277	7.584	0.27150	822	0.40702	.;HMG box transcription factor BBX, domain of unknown function DUF2028;HMG box transcription factor BBX, domain of unknown function DUF2028;.;HMG box transcription factor BBX, domain of unknown function DUF2028;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004032	0.000000	0.000000	0.005848	0.000000	0.000000	0.012195	0.011364	0.07143	638.44	37	chr3	107747993	.	C	T	638.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.5;DP=258;ExcessHet=0;FS=2.014;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.63;ReadPosRankSum=0.41;SOR=1.047	GT:AD:DP:GQ:PL	0/1:47,27:74:99:649,0,1127	6	0	1	0
chr3	119732366	119732366	A	G	exonic	CFAP91	.	nonsynonymous SNV	CFAP91:NM_001320318:exon7:c.A713G:p.Y238C,CFAP91:NM_001320317:exon8:c.A905G:p.Y302C,CFAP91:NM_001320316:exon9:c.A1031G:p.Y344C,CFAP91:NM_033364:exon9:c.A1091G:p.Y364C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0354291174451	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs1338679831	7.535e-06	7.525e-06	5.454e-06	9.638e-06	9.907e-06	4.04e-06	2.96e-06	5.32e-06	3.89e-06	0	0	0	0	0	0	9.907e-06	0	0	6.569e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.007	0.69154	D	.	.	.	.	.	.	0.005504	0.32736	N	0.307106	0.999754	0.48800	D	.	.	.	1.56	0.29602	T	-7.85	0.96058	D	0.881	0.87917	-0.6091	0.64441	T	0.217	0.57902	T	10	0.6408098	0.69046	D	0.035429	0.56337	D	0.253	0.56294	0.519	0.62066	0.605306593731	0.60214	0.6196650840351213	0.61899	0.674296566844	0.59635	0.581378996372	0.50279	T	.	.	.	-0.0731135	0.40829	T	-0.342799	0.40027	T	0.995712280273438	0.87934	D	0.90161	0.65783	D	0.592074	0.72263	0.5721988	0.75224	0.592074	0.72264	0.5721988	0.75224	-9.675	0.71944	D	0.7110631924778165	0.79130	0.176	0.39116	B	.;.	.;.	4.523653	0.70949	25.6	0.99829925008199827	0.91198	0.87235	0.46713	D	AEBCI	0.783528	0.71448	D	0.763154057315257	0.83758	8.102228	0.717607531008588	0.83715	8.095359	0.999995172073679	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.656636	0.63459	0	.	.	5.66	5.66	0.87293	4.243000	0.58516	11.144000	0.87156	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.8615:0.0:0.0:0.1385	11.053	0.47116	630	0.65016	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	345.44	34	chr3	119732366	.	A	G	345.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.24;DP=229;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=1.01;SOR=0.706	GT:AD:DP:GQ:PL	0/1:36,15:51:99:356,0,888	6	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	131.31	80	chr3	121697608	.	C	T	131.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.544;DP=478;ExcessHet=2.5225;FS=222.92;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.41;ReadPosRankSum=-0.07;SOR=10.1	GT:AD:DP:GQ:PL	0/1:73,29:107:45:45,0,1252	2	0	4	1
chr3	124927846	124927846	G	A	exonic	MUC13	.	nonsynonymous SNV	MUC13:NM_033049:exon2:c.C200T:p.T67I	.	423	1076	22	1	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0035	0.00319489	0.0046	0.0011	0.0091	0.0001	0.0002	0.0038	0.0022	0.0122	0.0041785	646	154602	rs148289912	0.0039	0.0039	0.0035	0.0044	0.0212	0.0038	0.0038	0.0181	0.0170	0.0009	0.0064	0.0112	2.519e-05	0.0002	0.0212	0.0033	0.0053	0.0122	0.0033	0.0033	0.0031	0.0035	0.0102	0.0031	0.0030	0.0079	0.0071	0.0006	0	0.0081	0.0115	0	0.0002	0.0102	0.0036	0.0057	0.0102	.	.	.	0.011	0.64786	D	.	.	.	.	.	.	0.512347	0.05154	N	1.350630	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.03	0.00717	-0.9646	0.38290	T	0.019	0.08033	T	10	0.004339576	0.00088	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.3494307040581834	0.34857	.	.	0.212011367083	0.00899	T	0.008027	0.07391	T	-0.688887	0.00042	T	-0.748035	0.03563	T	0.000759447099649679	0.00007	T	0.282772	0.04965	T	0.027561285	0.01966	0.036250144	0.03033	0.027561285	0.01966	0.036250144	0.03033	-5.1	0.37908	T	.	.	0.095	0.14933	B	.	.	-0.101762	0.03631	0.720	0.83691209667447475	0.14866	0.06399	0.12402	N	AEFGBHI	0.105390	0.21059	N	-1.29406102327893	0.03746	0.1678968	-1.39030971903455	0.03354	0.1563009	0.990034487655043	0.32016	0.495158	0.18159	0	0.616935	0.53198	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.41	-3.5	0.04411	-0.321000	0.08060	0.368000	0.17646	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5951:0.0:0.4049:0.0	7.609	0.27286	878	0.29785	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018127	0.015152	0.017663	0.032164	0.000000	0.034483	0.015244	0.011364	0.07143	1531.44	43	chr3	124927846	.	G	A	1531.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.222;DP=383;ExcessHet=0;FS=6.677;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-0.276;SOR=1.168	GT:AD:DP:GQ:PL	0/1:102,71:173:99:1542,0,2447	6	0	1	0
chr3	126501908	126501908	C	T	exonic	UROC1	.	nonsynonymous SNV	UROC1:NM_001165974:exon10:c.G943A:p.G315S	.	0	1517	5	0	0	5	0.00164528	.	.	.	1195935	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.106	0.00451678842094	0.0003	.	0.0004	0	0	0.0001	0.0005	0.0005	0	0.0001	0.0003234	50	154602	rs372066284	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0004	0.0005	0.0004	8.965e-05	0.0001	0	7.559e-05	0.0003	0.0010	0.0005	0.0004	0.0002	0.0003	0.0003	0.0004	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	7.236e-05	0	0.0001	0.0006	0	0.0003	0	0.0005	0.0005	0.0004	0.416	0.09958	T	0.327	0.18732	T	.	.	.	.	.	.	0.092877	0.02472	N	2.763760	1	0.08975	N	.	.	.	0.49	0.55775	T	-0.58	0.17417	N	0.236	0.26596	-1.0176	0.24495	T	0.065	0.26737	T	10	0.031617284	0.01298	T	0.004517	0.11125	T	0.106	0.30130	.	.	0.0954503805726	0.09146	0.4058033700640791	0.40496	0.0678248329266	0.07588	0.270429730415	0.06197	T	.	.	.	-0.52997	0.00384	T	-0.584482	0.14147	T	0.00504998033805112	0.00054	T	0.480052	0.14488	T	.	.	.	.	.	.	.	.	-3.628	0.18263	T	.	.	0.098	0.16187	B	.	.	0.230237	0.06116	2.561	0.43781204047080191	0.03320	0.01363	0.04662	N	ALL	0.034513	0.04287	N	-1.43208748339378	0.02361	0.104189	-1.48455702042879	0.02471	0.1136847	0.999887840856574	0.44867	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.613276	0.41899	0	.	.	1.03	0.093	0.13783	-0.511000	0.06404	-3.406000	0.02811	-0.468000	0.05098	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.699:0.0:0.301	3.331	0.06668	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	996.63	35	chr3	126501908	.	C	T	996.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.668;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.195;SOR=0.665	GT:AD:DP:GQ:PL	0/1:32,41:73:99:1007,0,663	6	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	811.28	32	chr3	128055734	.	T	C	811.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-1.855;DP=354;ExcessHet=8.2628;FS=216.11;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.38;ReadPosRankSum=0.211;SOR=8.983	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,20:87:99:.:.:230,0,1485:.	1	0	6	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E,COL6A5:NM_153264:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1108.37	12	chr3	130421335	.	G	A	1108.37	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.486;DP=262;ExcessHet=4.1913;FS=286.714;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.46;ReadPosRankSum=0.879;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,14:59:99:.:.:239,0,1301:.	0	0	4	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1150.39	14	chr3	130421337	.	T	C	1150.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=0.181;DP=257;ExcessHet=4.1913;FS=293.182;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=5.28;ReadPosRankSum=0.977;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,18:61:99:.:.:203,0,1310:.	0	0	4	3
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	316.78	52	chr3	133947398	.	T	C	316.78	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.623;DP=432;ExcessHet=2.5225;FS=306.077;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.518;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,20:82:29:.:.:29,0,1123:.	3	0	4	0
chr3	140688048	140688048	G	A	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon3:c.G1366A:p.G456S	.	417	1078	25	2	0	29	0.0132723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0048	0.00638978	0.0037	0.0105	0.0060	0.0001	0.0002	0.0031	0.0088	0.0028	0.0035834	554	154602	rs112034444	0.0024	0.0024	0.0024	0.0025	0.0288	0.0024	0.0023	0.0252	0.0238	0.0114	0.0064	0.0086	0	0.0002	0.0288	0.0017	0.0050	0.0030	0.0055	0.0055	0.0051	0.0059	0.0122	0.0052	0.0051	0.0107	0.0102	0.0103	0	0.0122	0.0084	0	9.439e-05	0.0408	0.0022	0.0085	0.0021	0.455	0.08865	T	0.525	0.10281	T	0.999	0.77913	D	0.818	0.58969	P	0.001630	0.38439	N	0.184523	0.832758	0.34943	D	1.43	0.35840	L	1.23	0.36872	T	0.56	0.02680	N	0.467	0.50327	-1.0851	0.06389	T	0.047	0.20116	T	10	0.0067242086	0.00153	T	.	.	.	0.186	0.46104	.	.	0.455265801863	0.45150	0.5165162350994309	0.51574	0.304077983774	0.32727	0.438456535339	0.30367	T	2.65E-4	0.00060	T	-0.387759	0.02781	T	-0.321804	0.42377	T	0.0360879731912394	0.02997	T	0.817618	0.47476	T	0.05190391	0.09602	0.087241255	0.20267	0.05190391	0.09601	0.087241255	0.20266	-2.38	0.05012	T	.	.	0.152	0.33619	B	.	.	2.876104	0.38048	20.6	0.95045804973693093	0.26056	0.82503	0.41721	D	AEFDI	0.166689	0.29330	N	0.24189076939408	0.53240	3.493742	0.25163332949671	0.52742	3.447057	0.00190099085466403	0.08984	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	4.75	0.59954	2.651000	0.46338	8.629000	0.77845	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.018000	0.11154	0.0915:0.0:0.9085:0.0	9.795	0.39896	549	0.72275	COS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.038268	0.065657	0.055707	0.032164	0.000000	0.034483	0.009146	0.026515	0.07143	2786.49	34	chr3	140688048	.	G	A	2786.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.728;DP=391;ExcessHet=0;FS=1.754;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.701;SOR=0.562	GT:AD:DP:GQ:PL	0/1:86,113:199:99:2797,0,1879	6	0	1	0
chr3	141778664	141778664	G	C	exonic	GRK7	.	nonsynonymous SNV	GRK7:NM_139209:exon3:c.G380C:p.S127T	.	421	1089	11	1	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00431302187811	0.0042	0.000599042	0.0040	0.0014	0.0017	0	0.0012	0.0062	0.0068	0.0010	0.0041073	635	154602	rs35318124	0.0055	0.0055	0.0056	0.0053	0.0135	0.0054	0.0053	0.0111	0.0102	0.0013	0.0024	0.0178	0	0.0020	0.0135	0.0060	0.0068	0.0013	0.0036	0.0036	0.0039	0.0033	0.0050	0.0034	0.0033	0.0046	0.0044	0.0012	0.0011	0.0042	0.0176	0	0.0016	0.0034	0.0050	0.0047	0.0004	0.675	0.04495	T	0.52	0.10465	T	0.022	0.18677	B	0.049	0.25116	B	0.001449	0.38980	N	0.284259	0.868171	0.28249	N	1.54	0.38927	L	4.52	0.01997	T	-0.13	0.08971	N	0.091	0.06990	-1.0093	0.27136	T	0.006	0.02093	T	10	0.004140258	0.00082	T	0.004313	0.10467	T	0.089	0.25827	.	.	0.540334051544	0.53686	0.4771172779578371	0.47631	0.313999416157	0.33687	0.472666293383	0.35046	T	0.022254	0.17192	T	-0.589351	0.00169	T	-0.614493	0.11623	T	0.0229154315241003	0.01013	T	0.367463	0.08589	T	0.1107215	0.26170	0.10174392	0.24366	0.1107215	0.26169	0.10174392	0.24366	-4.926	0.36026	T	.	.	0.113	0.22428	B	.	.	1.848664	0.23484	16.04	0.35856320784464352	0.02274	0.88399	0.48309	D	AEFDBI	0.281259	0.39488	N	-0.286827317742857	0.29656	1.646534	-0.194322911155361	0.31745	1.799407	0.133033025625944	0.17128	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.33	4.33	0.51083	4.757000	0.61910	6.888000	0.56832	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.050000	0.15192	0.0:0.0:1.0:0.0	16.859	0.85878	716	0.55970	RGS domain|RGS domain|RGS domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.005051	0.013587	0.014620	0.000000	0.017241	0.012195	0.003788	0.07143	1318.49	37	chr3	141778664	.	G	C	1318.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.657;DP=296;ExcessHet=0;FS=0.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.538;SOR=0.565	GT:AD:DP:GQ:PL	0/1:55,53:108:99:1329,0,1471	6	0	1	0
chr3	142553920	142553920	T	C	exonic	ATR	.	nonsynonymous SNV	ATR:NM_001354579:exon10:c.A2245G:p.M749V,ATR:NM_001184:exon11:c.A2437G:p.M813V	Seckel syndrome 1, Autosomal recessive	14	1507	1	0	0	1	0.000331675	.	.	.	1446366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.174	0.0114197303517	.	.	4.991e-05	0	0.0002	0	0	3.024e-05	0.0011	6.075e-05	3.88e-05	6	154602	rs769648140	6.642e-05	6.704e-05	5.042e-05	8.259e-05	0.0001	5.567e-05	5.158e-05	5.889e-05	5.455e-05	5.986e-05	0.0001	0	0	0	0	7.2e-05	0.0001	2.324e-05	5.912e-05	5.91e-05	8.991e-05	2.689e-05	9.647e-05	3.077e-05	2.21e-05	3.248e-05	1.914e-05	9.647e-05	0	6.544e-05	0	0	0	0	5.879e-05	0	0	0.164	0.23360	T	0.39	0.15506	T	0.325	0.33132	B	0.037	0.23121	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.39	0.34934	L	-0.12	0.64630	T	-0.45	0.14782	N	0.418	0.45803	-0.9080	0.47097	T	0.136	0.45106	T	10	0.20255083	0.36378	T	0.01142	0.29027	T	0.174	0.44019	0.331	0.31681	0.871903797169	0.87066	0.5243703655821307	0.52361	0.164037508241	0.18510	0.6144348979	0.54942	T	0.046462	0.27431	T	-0.0371258	0.46373	T	-0.0654033	0.65951	T	0.0457666628062725	0.04740	T	0.834017	0.50309	T	0.34866533	0.56963	0.16261743	0.37765	0.34866533	0.56963	0.16261743	0.37764	-4.043	0.24445	T	.	.	0.147	0.32372	B	.	.	2.412870	0.31014	18.61	0.9800169106782366	0.37483	0.96960	0.71888	D	AEGBI	0.500474	0.53372	D	-0.00370051288581134	0.41687	2.498021	0.180964644173424	0.48804	3.091533	0.999999971383734	0.74766	0.651	0.46895	0	0.653731	0.59785	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.44	5.44	0.79348	4.334000	0.59076	6.163000	0.54371	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	15.494	0.75365	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1469.53	33	chr3	142553920	.	T	C	1469.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.202;DP=284;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.378;SOR=0.67	GT:AD:DP:GQ:PL	0/1:41,64:105:99:1480,0,899	6	0	1	0
chr3	149039192	149039192	T	C	exonic	HLTF	.	nonsynonymous SNV	HLTF:NM_001318934:exon23:c.A2650G:p.M884V,HLTF:NM_001318935:exon23:c.A2653G:p.M885V,HLTF:NM_003071:exon23:c.A2653G:p.M885V,HLTF:NM_139048:exon23:c.A2653G:p.M885V	.	.	.	.	.	.	.	.	.	.	.	2703725	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.402	0.026870596991	.	.	1.835e-05	0.0001	0	0	0	1.693e-05	0	0	1.29e-05	2	154602	rs763512201	1.17e-05	1.163e-05	1.232e-05	1.107e-05	0.0005	7.13e-06	5.83e-06	0.0001	7.591e-05	0.0001	0	0	0	0	0.0005	9.02e-06	0	0	1.314e-05	1.313e-05	2.57e-05	0	6.55e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	6.55e-05	0	0	0	0	0	0	0	0.006	0.61437	D	0.288	0.21277	T	0.828	0.46021	P	0.542	0.48916	P	.	.	.	.	0.988819	0.40833	D	1.15	0.29295	L	-1.1	0.77336	T	-2.02	0.50337	N	0.63	0.64393	-0.3375	0.73916	T	0.312	0.68237	T	9	0.2731846	0.44865	T	0.026871	0.49739	D	0.402	0.71558	.	.	0.70757609158	0.70502	0.6848397408258263	0.68422	0.729934226379	0.62688	0.43113052845	0.29362	T	0.205058	0.66872	T	-0.0564897	0.43455	T	-0.135529	0.60503	T	0.27288337349514	0.23870	T	0.912209	0.75689	D	0.40587944	0.61138	0.3119918	0.57203	0.40587944	0.61138	0.3119918	0.57202	-9.27	0.69419	D	.	.	0.195	0.44758	B	.;.;.;.;.	.;.;.;.;.	3.912832	0.57078	23.8	0.99544314751549845	0.70711	0.93482	0.58337	D	AEFBI	0.580468	0.58086	D	0.181233759580527	0.50298	3.221184	0.334807347854408	0.57597	3.926017	0.99998982575717	0.51787	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.655142	0.61905	0	.	.	5.98	5.98	0.97147	3.059000	0.49640	6.124000	0.53825	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.151	0.81438	917	0.20147	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal;Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	540.63	24	chr3	149039192	.	T	C	540.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.986;DP=193;ExcessHet=0;FS=1.222;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.037;SOR=0.478	GT:AD:DP:GQ:PL	0/1:18,25:43:99:551,0,412	6	0	1	0
chr3	149182037	149182037	G	C	exonic	CP	.	nonsynonymous SNV	CP:NM_000096:exon14:c.C2522G:p.T841R	Cerebellar ataxia, Autosomal recessive;Hemosiderosis, systemic, due to aceruloplasminemia, Autosomal recessive	14	1492	14	2	0	18	0.005996	.	.	YES	269100	Deficiency_of_ferroxidase|not_specified|not_provided|CP-related_disorder	Human_Phenotype_Ontology:HP:0025498,MONDO:MONDO:0011426,MedGen:C0878682,OMIM:604290,Orphanet:48818|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.595	0.115394988911	0.0045	0.00239617	0.0038	0.0017	0.0026	0	0.0003	0.0059	0.0077	0.0007	0.003965	613	154602	rs56033670	0.0051	0.0051	0.0051	0.0051	0.0107	0.0050	0.0050	0.0084	0.0075	0.0011	0.0029	0.0254	2.564e-05	0.0006	0.0107	0.0055	0.0065	0.0006	0.0044	0.0043	0.0048	0.0040	0.0061	0.0041	0.0040	0.0056	0.0054	0.0012	0	0.0040	0.0256	0	0.0005	0.0167	0.0061	0.0094	0.0004	0.384	0.14793	T	0.273	0.22154	T	.	.	.	.	.	.	0.000001	0.62929	D	0.098491	1	0.81001	D	.	.	.	-5.24	0.98905	D	-2.41	0.52938	N	0.876	0.87373	0.910	0.95812	D	0.944	0.98160	D	10	0.005704552	0.00127	T	0.115395	0.79456	D	0.595	0.83911	.	.	0.973571361863	0.97328	0.8483836096817313	0.84799	0.226571706203	0.25209	0.622560977936	0.56090	T	0.659412	0.89761	D	0.140779	0.68398	D	0.437405	0.93250	D	0.0472912464900081	0.05017	T	0.70163	0.31127	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.44042	B	.;.	.;.	3.096584	0.41717	21.4	0.96481343132758246	0.29974	0.99786	0.99456	D	AEFBI	0.967876	0.99036	D	0.677397289954577	0.78149	6.814185	0.675768565559021	0.80542	7.32223	0.999999999994071	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	5.907000	0.69646	11.781000	0.96113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	19.060	0.93068	917	0.20147	.;Multicopper oxidase, type 3	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009586	0.010101	0.013587	0.005848	0.050000	0.025862	0.006173	0.003788	0.07143	727.53	36	chr3	149182037	.	G	C	727.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=283;ExcessHet=0;FS=8.679;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-1.149;SOR=0.141	GT:AD:DP:GQ:PL	0/1:23,27:50:99:738,0,528	6	0	1	0
chr3	150562624	150562625	AA	-	exonic	EIF2A	.	frameshift deletion	EIF2A:NM_001319043:exon3:c.181_182del:p.N62Yfs*13,EIF2A:NM_001319044:exon4:c.256_257del:p.N87Yfs*11,EIF2A:NM_001319045:exon4:c.241_242del:p.N82Yfs*13,EIF2A:NM_032025:exon4:c.256_257del:p.N87Yfs*13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2179.4	33	chr3	150562623	.	CAA	C	2179.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.813;DP=297;ExcessHet=0;FS=1.581;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=20.18;ReadPosRankSum=0.12;SOR=0.518	GT:AD:DP:GQ:PL	0/1:51,57:108:99:2190,0,1878	6	0	1	0
chr3	151740838	151740838	C	G	exonic	AADACL2	.	nonsynonymous SNV	AADACL2:NM_207365:exon2:c.C331G:p.H111D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.581	0.0155683596554	0.0003	0.000199681	0.0003	9.612e-05	8.655e-05	0	0	0.0006	0	6.058e-05	0.0003299	51	154602	rs34754709	0.0003	0.0003	0.0003	0.0003	0.0012	0.0003	0.0002	0.0006	0.0004	2.988e-05	0.0001	0.0066	0	0	0.0012	0.0002	0.0007	5.798e-05	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	4.815e-05	0	6.539e-05	0.0052	0	0	0	0.0002	0	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.55	0.99125	H	1.19	0.37578	T	-8.48	0.97265	D	0.843	0.83885	-0.0287	0.81658	T	0.357	0.71920	T	10	0.08169258	0.13402	T	0.015568	0.36375	T	0.581	0.83137	.	.	0.260249123532	0.25628	0.8753184310726537	0.87498	0.448811800939	0.44695	0.683025896549	0.64702	T	0.367595	0.73264	T	0.0538513	0.58838	T	0.134412	0.79180	D	0.63707560300827	0.37913	D	.	.	.	0.9388333	0.95128	0.9241464	0.96688	0.9388333	0.95128	0.9241464	0.96689	-11.575	0.82719	D	.	.	0.846	0.79542	P	.	.	4.258901	0.64710	24.7	0.99214727275779113	0.55716	0.92449	0.55738	D	AEFDBI	0.349510	0.44327	N	0.648890360149801	0.76297	6.460545	0.4605168696825	0.65396	4.818356	0.9808707316354	0.30188	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.25	4.35	0.51454	3.941000	0.56317	3.698000	0.39517	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.9122:0.0:0.0878	12.095	0.53050	868	0.31772	Alpha/beta hydrolase fold-3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.08333	714.27	16	chr3	151740838	.	C	G	714.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.668;DP=173;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.29;ReadPosRankSum=-2.07;SOR=0.846	GT:AD:DP:GQ:PL	0/1:19,31:50:99:724,0,403	5	0	1	1
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1059.78	58	chr3	155853645	.	G	C	1059.78	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.254;DP=580;ExcessHet=8.2628;FS=227.99;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.61;SOR=9.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,10:96:2:.:.:149,0,2653:.	3	0	4	0
chr3	157381266	157381267	GG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1016_1017del:p.S339Ffs*22,VEPH1:NM_001167912:exon7:c.1016_1017del:p.S339Ffs*22,VEPH1:NM_024621:exon7:c.1016_1017del:p.S339Ffs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	96.5	34	chr3	157381265	.	AGG	A	96.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.21;DP=506;ExcessHet=0;FS=61.596;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=-0.468;SOR=5.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,18:172:99:0|1:157381265_AGG_A:107,0,6371:157381265	6	0	1	0
chr3	157381266	157381266	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	124.08	117	chr3	157381266	.	G	*	124.08	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-4.861;DP=709;ExcessHet=0.4139;FS=134.766;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=1.83;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,18:172:99:0|1:157381265_AGG_A:107,0,6371:157381265	5	0	1	1
chr3	157381267	157381267	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	129.32	106	chr3	157381267	.	G	*	129.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-4.274;DP=817;ExcessHet=0.4139;FS=134.977;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.87;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,18:172:99:0|1:157381265_AGG_A:107,0,6371:157381265	2	0	1	4
chr3	157381272	157381275	GGTG	-	exonic	VEPH1	.	frameshift deletion	VEPH1:NM_001167911:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_001167912:exon7:c.1008_1011del:p.T337Sfs*15,VEPH1:NM_024621:exon7:c.1008_1011del:p.T337Sfs*15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	0.0002	1.363e-06	2.754e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	104.5	145	chr3	157381271	.	AGGTG	A	104.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-6.835;DP=921;ExcessHet=0;FS=58.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.6;ReadPosRankSum=-0.731;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,19:173:99:0|1:157381265_AGG_A:115,0,6288:157381265	6	0	1	0
chr3	157381272	157381272	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	132.32	102	chr3	157381272	.	G	*	132.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-3.565;DP=803;ExcessHet=0.4139;FS=133.613;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.14;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,19:173:99:0|1:157381265_AGG_A:115,0,6288:157381265	2	0	1	4
chr3	157381273	157381273	G	0	exonic	VEPH1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	126.32	102	chr3	157381273	.	G	*	126.32	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-5.425;DP=804;ExcessHet=0.4139;FS=129.894;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.16;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,19:173:99:0|1:157381265_AGG_A:115,0,6288:157381265	2	0	1	4
chr3	157381275	157381275	-	AACCCC	exonic	VEPH1	.	nonframeshift insertion	VEPH1:NM_001167911:exon7:c.1007_1008insGGGGTT:p.D336delinsEGF,VEPH1:NM_001167912:exon7:c.1007_1008insGGGGTT:p.D336delinsEGF,VEPH1:NM_024621:exon7:c.1007_1008insGGGGTT:p.D336delinsEGF	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	207.85	102	chr3	157381275	.	G	GAACCCC	207.85	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-7.176;DP=676;ExcessHet=0.4139;FS=126.554;MLEAC=1;MLEAF=0.167;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=2.21;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,18:170:79:0|1:157381265_AGG_A:79,0,6207:157381265	2	0	1	4
chr3	180616526	180616527	TA	-	exonic	CCDC39	.	frameshift deletion	CCDC39:NM_181426:exon18:c.2575_2576del:p.Y859Lfs*12	Ciliary dyskinesia, primary, 14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	379.79	10	chr3	180616525	.	GTA	G	379.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.315;DP=109;ExcessHet=0;FS=1.871;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.99;ReadPosRankSum=0.492;SOR=0.223	GT:AD:DP:GQ:PL	0/1:10,10:20:99:390,0,390	6	0	1	0
chr3	188866255	188866255	G	A	exonic	LPP	.	nonsynonymous SNV	LPP:NM_001167672:exon8:c.G1025A:p.R342Q,LPP:NM_001375465:exon8:c.G1466A:p.R489Q,LPP:NM_001375455:exon9:c.G1466A:p.R489Q,LPP:NM_001375456:exon9:c.G1466A:p.R489Q,LPP:NM_001375458:exon9:c.G1466A:p.R489Q,LPP:NM_001375459:exon9:c.G1466A:p.R489Q,LPP:NM_001375461:exon9:c.G1466A:p.R489Q,LPP:NM_001375463:exon9:c.G1466A:p.R489Q,LPP:NM_005578:exon9:c.G1466A:p.R489Q,LPP:NM_001167671:exon10:c.G1466A:p.R489Q,LPP:NM_001375457:exon10:c.G1466A:p.R489Q,LPP:NM_001375460:exon10:c.G1466A:p.R489Q,LPP:NM_001375462:exon10:c.G1466A:p.R489Q,LPP:NM_001375464:exon10:c.G1466A:p.R489Q	Leukemia, acute myeloid, Autosomal dominant;Lipoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.812	0.0222470864649	7.7e-05	.	3.407e-05	0	8.666e-05	0	0	4.57e-05	0	0	2.59e-05	4	154602	rs374105476	2.864e-05	3.078e-05	3.472e-05	2.248e-05	0.0001	2.131e-05	1.918e-05	3.578e-05	2.169e-05	3.111e-05	9.777e-05	0	0.0001	0	0	2.92e-05	0	0	2.63e-05	2.627e-05	3.856e-05	1.346e-05	5.88e-05	8.15e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	.	.	.	0.0	0.92824	D	0.975	0.58077	D	0.746	0.55899	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.68	0.16426	N	.	.	.	.	.	.	0.862	0.85872	0.252	0.86776	D	0.737	0.91001	D	10	0.7553927	0.75943	D	0.022247	0.45119	T	.	.	.	.	0.854477972505	0.85307	0.46407653522315256	0.46326	.	.	0.669995248318	0.62837	T	0.11385	0.81284	T	0.276243	0.80990	D	0.342419	0.90014	D	0.736991807787516	0.42576	D	0.969303	0.88939	D	0.7809619	0.82713	0.72176063	0.83570	0.7809619	0.82714	0.72176063	0.83571	-12.353	0.86528	D	.	.	0.886	0.86413	P	.;.;.	.;.;.	6.069346	0.94485	34	0.99958896396705699	0.99990	0.99026	0.90144	D	AEFGBI	0.910145	0.86767	D	0.731365841528256	0.81690	7.581331	0.771617797446611	0.87760	9.334951	0.999999999999529	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	9.602000	0.97623	11.868000	0.98498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.160	0.93514	949	0.11373	Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type;Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2345.44	33	chr3	188866255	.	G	A	2345.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.145;DP=355;ExcessHet=0;FS=0.567;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=-0.351;SOR=0.618	GT:AD:DP:GQ:PL	0/1:74,98:172:99:2356,0,1631	6	0	1	0
chr3	195725265	195725265	C	T	exonic	MUC20	.	nonsynonymous SNV	MUC20:NM_001282506:exon2:c.C662T:p.P221L,MUC20:NM_020790:exon3:c.C548T:p.P183L	.	1227	268	12	15	0	42	0.0726644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0279939078184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1178367301	0.0039	0.0022	0.0035	0.0042	0.0229	0.0036	0.0034	0.0194	0.0181	0	0.0229	0.0016	0.0004	0.0035	0	0.0017	0.0016	0.0098	0.0909	0.0077	0	0.1667	0.2500	0.0162	0.0068	.	.	.	.	0.2500	.	0	0.5000	.	0	.	.	0.935	0.05501	T	0.009	0.67890	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.97	0.13795	T	-0.71	0.20145	N	0.071	0.04426	-0.9482	0.41279	T	0.016	0.06473	T	5	0.0043722987	0.00089	T	0.027994	0.50737	D	0.012	0.01476	0.268	0.21576	.	.	0.08169079549289465	0.08104	.	.	.	.	.	0.002482	0.09657	T	-0.314255	0.07379	T	-0.689182	0.06436	T	0.0349274069218366	0.02795	T	.	.	.	0.046044763	0.07641	0.13236813	0.31765	0.046044763	0.07640	0.13236813	0.31764	-7.122	0.54919	T	.	.	0.357	0.69288	A	.;.;.	.;.;.	0.983081	0.13607	10.14	0.97336882581047512	0.33452	0.00384	0.01939	N	AEFI	0.051030	0.08975	N	-0.961609506576599	0.09433	0.4464343	-1.14477772820503	0.06862	0.3317746	1.15960121852374E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	1.090000	0.30514	0.659000	0.20486	0.196000	0.17891	0.011000	0.18532	0.001000	0.17328	0.019000	0.11356	.	.	.	851	0.35303	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	429.19	.	chr3	195725265	.	C	T	429.19	.	AC=3;AF=0.5;AN=6;BaseQRankSum=0.842;DP=31;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=29.51;MQRankSum=-0.859;QD=17.88;ReadPosRankSum=1.2;SOR=1.201	GT:AD:DP:GQ:PL	0/1:7,6:13:99:132,0,142	1	1	1	4
chr3	195725634	195725635	CC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1031_1032del:p.A344Vfs*61	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203696921	0.0308	0.0076	0.0327	0.0293	0.1476	0.0300	0.0297	0.1285	0.1212	0.1476	0.0214	0.0717	0.0385	0.0200	0.0412	0.0309	0.0378	0.0218	0.0147	0.0018	0.0312	0	0.0455	0.0040	0.0021	0.0044	0.0019	0.0455	0	0	0	0	0	0	0.0250	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1204.8	1	chr3	195725633	.	GCC	G	1204.8	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-2.932;DP=186;ExcessHet=0;FS=7.309;MLEAC=1;MLEAF=0.125;MQ=36.47;MQRankSum=2.66;QD=13.24;ReadPosRankSum=0.678;SOR=0.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,33:91:99:0|1:195725633_GCC_G:1212,0,2184:195725633	3	0	1	3
chr3	195725637	195725748	CAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1034_1145del:p.E346Qfs*32,MUC20:NM_001291833:exon4:c.556_632del:p.V186Lfs*23,MUC20:NM_020790:exon4:c.613_689del:p.P205Gfs*24	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0202	0.0050	0.0209	0.0196	0.0718	0.0195	0.0193	0.0591	0.0545	0.0718	0.0127	0.0488	0.0280	0.0132	0.0281	0.0199	0.0246	0.0154	0.0430	0.0010	0.0571	0.0309	0.1562	0.0255	0.0202	0.0616	0.0400	0.1562	0	0.0208	0.1667	0	0	0	0.0469	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	876.46	1	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	T	876.46	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-2.39;DP=297;ExcessHet=0;FS=13.237;MLEAC=1;MLEAF=0.167;MQ=37.43;MQRankSum=0.769;QD=4.52;ReadPosRankSum=0.881;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,33:200:99:0|1:195725633_GCC_G:883,0,6748:195725633	2	0	1	4
chr3	195725664	195725778	TCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCC	0	exonic	MUC20	.	.	.	.	1209	279	4	0	30	34	0.00711744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1495.05	10	chr3	195725664	.	TCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCC	*	1495.05	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.252;DP=562;ExcessHet=2.4304;FS=11.803;MLEAC=1;MLEAF=0.167;MQ=36.86;MQRankSum=-0.045;QD=3.17;ReadPosRankSum=2.99;SOR=0.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,39:213:99:0|1:195725664_TCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCC_*:998,0,5732:195725664	2	0	1	4
chr3	195779136	195779136	G	0	exonic	MUC4	.	.	.	.	440	961	82	1	38	122	0.0418744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	324.39	191	chr3	195779136	.	G	*	324.39	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.267;DP=1800;ExcessHet=0.3476;FS=0.663;MLEAC=1;MLEAF=0.083;MQ=47.3;MQRankSum=-2.341;QD=0.44;ReadPosRankSum=-6.898;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,116:425:99:0|1:195779135_TGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCAGAGGAAGTGTC_T:3765,0,12019:195779135	5	0	1	1
chr3	195779166	195779166	G	0	exonic	MUC4	.	.	.	.	685	574	152	54	57	317	0.184659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	136.43	226	chr3	195779166	.	G	*	136.43	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.21;DP=1849;ExcessHet=0.5115;FS=0;MLEAC=1;MLEAF=0.125;MQ=54.84;MQRankSum=-3.858;QD=0.31;ReadPosRankSum=1.33;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,116:425:99:0|1:195779135_TGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCAGAGGAAGTGTC_T:3765,0,12019:195779135	3	0	1	3
chr3	195779220	195779220	A	0	exonic	MUC4	.	.	.	.	729	613	71	27	82	207	0.0925241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1269.43	217	chr3	195779220	.	A	*	1269.43	.	AC=1;AF=0.125;AN=8;BaseQRankSum=1.74;DP=1617;ExcessHet=0.6695;FS=1.222;MLEAC=1;MLEAF=0.125;MQ=53.16;MQRankSum=-4.102;QD=2.23;ReadPosRankSum=-2.586;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,116:355:99:1|0:195779135_TGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCAGAGGAAGTGTC_T:4097,0,10554:195779135	3	0	1	3
chr3	195779228	195779228	T	0	exonic	MUC4	.	.	.	.	740	633	67	26	56	175	0.0859206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1118.43	209	chr3	195779228	.	T	*	1118.43	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.09;DP=1540;ExcessHet=0.5115;FS=1.237;MLEAC=1;MLEAF=0.125;MQ=52.73;MQRankSum=-3.575;QD=1.99;ReadPosRankSum=-4.106;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,116:355:99:1|0:195779135_TGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCAGAGGAAGTGTC_T:4097,0,10554:195779135	3	0	1	3
chr3	195780034	195780034	A	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon15:c.10105+1T>0	.	.	.	487	564	422	42	7	513	0.30967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	6283.65	148	chr3	195780034	.	A	*	6283.65	.	AC=5;AF=0.357;AN=14;DP=1829;ExcessHet=0.3696;FS=0;MLEAC=5;MLEAF=0.357;MQ=53.76;QD=5.53;SOR=0.7	GT:AD:DP:GQ:PL	0/1:470,161:631:99:5258,0,18919	3	1	3	0
chr3	195781486	195781486	-	CGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT	exonic	MUC4	.	nonframeshift insertion	MUC4:NM_018406:exon2:c.10093_10094insACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCG:p.T3364_G3365insDTSSASTGHATPLPVT,MUC4:NM_001322468:exon12:c.8893_8894insACACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCG:p.G2965_A4615delinsDTSSASTGHATPLPVTGHATPLPVTDTSSVSTGHATPLPVTSLSSVSTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSRGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLPVTSTSSASTGHATSLPVTDTSSVSTGHATSLPVTDTSSVSTGHATPLPVTDASSVSTGHATPLPVTDASSASTGDTTPLPVTNTSSASTGQATPLPVTSLSSVSTGDTMPLPVTSPSSASTGHATPLPVTGLSSASTGDTTPLPVTDTSSASTGHVTPLPVTSLSSASTGDSTPLPVTDTSSASTGHVTPLPVTSLSSASTGDTTPLPVTDTSSASTGHATPLHVTDASSASTGQATLLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDTSSASTGHATPLPVTDASSVSTGHATSLPVTIRSSGSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTMPLPVTSPSSASTGDTTPLPVTDASSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTTSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTSPSSASTGHATPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATSLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTNVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLHVTDASSVSTGHTTPLPVTDTSSASTGQATSLLVTDTSSVSTGDTTPLPVTSTSSASTGHVTPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTDTSSVSTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASKGDTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHATPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTSTSSASTGHATPLPVTDNSSVSTGHATPLPVTGLSSATTDDTTRLPVTDVSSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHASPLLVTDASSASTGQATPLPVTDTSSVSTAHATPLPVTGLSSASTDDTTRLPVTDVSSASTGQAIPLPVTSPSSASTGDTTPLPVTDASSASTGDTTSLPVTIPSSASSGHTTSLPVTDASSVSTGHATSLLVTDASSVSTGDTTPLPVTDTNSASTGDTTPLHVTDASSVSTGHATSLPVTSLSSASTGDTTPLPVTSPSSASSGHTTSLPVTDASSVSTGHATSLPVTIPSSASSGHTTPLPVTDASSVPTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPVTDTSSVSTGQATPLPVTSLSSASSTGDTTPLPVTDTSSASTGQDTPLPVTSLFSVSTGDTTPLPVTSPSSASTGHATHLLVTDASSVSTGHATSLLVTDASSVSTGHATALHVTDASSLSTGDTTPLPVTSPSSASTGDTTPLPVTDTSSVSTGHATSLPVTDTSSASTGHATSLPVTDTSSASTGQATPLPVTSPSSASTGHAIPLLVTDTSSASTGQATPLPVTSLSSASTGDTTPLPVTDASSVSTGHATSLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLHVTSPSSASTGHATPLPVTSLSSASTGDTTPLPVTSPSSASTGHATPLHVTDASSVSTGDTTPLPVTSPSSASSGHTTPLPVTDASSASTGDTTPLPVTDTSSASTGHATHLPVTGLSSASTGDTTRLPVTDVSSASTGHATPLPVTSTSSASTGDTTPLPGTDTSSVSTGHTTPLLVTDASSVSTGDTTRLPVTSPSSASTGHTTPLPVTDTPSASTGDTTPLPVTNASSLSTRHATSLHVTSPSSASTGHATPLPVTDTSAASTGHATPLPVTSTSSASTGDTTPLPVTDTSSASTGHATPLPVTNTSSVSTGHATPLHVTSPSSASTGHTTPLPVTDASSVSTGHATSLPVTDASSVSTGHATPLPVTDASSVSTGHATPLPLTSLSSVSTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLPVTDTSSASTGHATSLPVTDTSSASTGHATPLPVTDTSSISTGHATPLHVTSPSSASTGHATPLPVTDTSSASTGHATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATPLLVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTSPSSASTGHATSLPVTDTSSASTGDTTSLPVTDTSSAYTGDTTSLPVTDTSSSSTGDTTPLLVTETSSASTGDTTPVPVTDTSSVSTGHATPLPVTGLSSASTGDTTRLPVTDISSASTGQATPLPVTNTSSVSTGDTMPLPVTSPSSASTGHATPLPVTSTSSASTGHATPVPVTSTSLASTGHTTPLPVTSPSSASTGHTTPLPVTDTSSASTGDTTPLPVTNASSLSTGHTTPLHVTIPSSASTGDTSTLPVTGASSASTGHATPLPVTDTSSVSTGHATPLPVTSFSSVSTGDTTPLPVTDASSASTGHATPLPVTDTSSASTGDTTPLPVTDASSASTGQATPLPVTSLSSVSTGDTTPLPVTIPSSASSGHTTSLPVSDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTDASSVSTGHATPLPVTDTSSASTGDTTRLPVTDTSSASTGQATPLPVTSLSSVSTGDTTPLLVTNTSSVSTGHATSLPVTIPSSSSSGHTTPLPVTSTSSVSTGHVTPLHVTSPSSSSTGQATPLPVTSTSSVSTGHVTPLHVTSPSSASTGHATPLPVTSTSSASTGHATPLPVTDASSVSTGHATPLPVTDTSSASTGDTTPLPVTDTSSASTGQATPLPVTSLSSVSTGHATPLAVSSATSASTVSSDSPLKMETSGMTTPSLKTDGGRRTATSPPPTTSQTIISTIPSTAMHTRSTAAPIPILPERGVSLFPYGADAGDLEFVRRTVDFTSPLFKPATGFPLGSSLRDSLYFTDNGQIIFPESDYQIFSYPNPLPTGFTGRDPVALVAPFWDDADFSTGRGTTFYQEYETFYGEHSLLVQQAESWIRKMTNNGGYKARWALKVTWVNAHAYPAQWTLGSNTYQAILSTDGSRSYALFLYQSGGMQWDVAQRSGNPVLMGFSSGDGYFENSPLMSQPVWERYRPDRFLNSNSGLQGLQFYRLHREERPNYRLECLQWLKSQPRWPSWGWNQVSCPCSWQQGRRDLRFQPVSIGRWGLGSRQLCSFTSWRGGVCCSYGPWGEFREGWHVQRPWQLAQELEPQSWCCRWNDKPYLCALYQQRRPHVGCATYRPPQPAWMFGDPHITTLDGVSYTFNGLGDFLLVGAQDGNSSFLLQGRTAQTGSAQATNFIAFAAQYRSSSLGPVTVQWLLEPHDAIRVLLDNQTVTFQPDHEDGGGQETFNATGVLLSRNGSEVSASFDGWATVSVIALSNILHASASLPPEYQNRTEGLLGVWNNNPEDDFRMPNGSTIPPGSPEEMLFHFGMTWQINGTGLLGKRNDQLPSNFTPVFYSQLQKNSSWAEHLISNCDGDSSCIYDTLALRNASIGLHTREVSKNYEQANATLNQYPPSINGGRVIEAYKGQTTLIQYTSNAEDANFTLRDSCTDLELFENGTLLWTPKSLEPFTLEILARSAKIGLASALQPRTVVCHCNAESQCLYNQTSRVGNSSLEVAGCKCDGGTFGRYCEGSEDACEEPCFPSVHCVPGKGCEACPPNLTGDGRHCAALGSSFLCQNQSCPVNYCYNQGHCYISQTLGCQPMCTCPPAFTDSRCFLAGNNFSPTVNLELPLRVIQLLLSEEENASMAEVNASVAYRLGTLDMRAFLRNSQVERIDSAAPASGSPIQHWMVISEFQYRPRGPVIDFLNNQLLAAVVEAFLYHVPRRSEEPRNDVVFQPISGEDVRDVTALNVSTLKAYFRCDGYKGYDLVYSPQSGFTCVSPCSRGYCDHGGQCQHLPSGPRCSCVSFSIYTAWGEHCEHLSMKLDAFFGIFFGALGGLLLLGVGTFVVLRFWGCSGARFSYFLNSAEALP*	.	419	1084	11	6	2	25	0.0104975	.	.	.	3185992	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.0008	0.0115	0	0.0005	0.0085	0.0037	0.0046	0.0001537	4	26028	rs780551832	0.0069	0.0087	0.0067	0.0070	0.0137	0.0067	0.0067	0.0109	0.0100	0.0042	0.0113	0.0123	0.0005	0.0034	0.0137	0.0072	0.0094	0.0030	0.0034	0.0072	0.0037	0.0032	0.0053	0.0032	0.0031	0.0048	0.0046	0.0010	0	0.0044	0.0064	0	0.0007	0	0.0053	0.0059	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5497.4	204	chr3	195781486	.	C	CCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGT	5497.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.736;DP=2778;ExcessHet=0;FS=7.02;MLEAC=1;MLEAF=0.071;MQ=57.61;MQRankSum=-11.9;QD=15.71;ReadPosRankSum=-3.442;SOR=0.801	GT:AD:DP:GQ:PL	0/1:197,153:353:99:5508,0,7229	6	0	1	0
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	19114.9	194	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	19114.9	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.667;DP=2134;ExcessHet=0.0509;FS=0;MLEAC=3;MLEAF=0.25;MQ=51.82;MQRankSum=5.48;QD=14.16;ReadPosRankSum=5.37;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:330,213:543:99:0|1:195781607_GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC_G:4633,0,13064:195781607	3	0	3	1
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	13811.8	197	chr3	195781628	.	C	*	13811.8	.	AC=7;AF=0.5;AN=14;BaseQRankSum=2.55;DP=2021;ExcessHet=1.1394;FS=1.351;MLEAC=7;MLEAF=0.5;MQ=55.87;MQRankSum=-2.156;QD=7.01;ReadPosRankSum=0.308;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:239,201:445:99:1|0:195781607_GACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTC_G:5218,0,10094:195781607	2	2	3	0
chr3	195782160	195782207	GGTGACAGGAAGAGCGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.9373_9420del:p.D3125_T3140del	.	430	1052	8	0	32	40	0.00378788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.0012	0.0348	0	0.0017	0.0160	0.0041	0.0014	0.0003428	53	154602	rs755633717	0.0082	0.0073	0.0079	0.0085	0.0193	0.0081	0.0080	0.0154	0.0140	0.0034	0.0153	0.0257	5.924e-05	0.0081	0.0193	0.0079	0.0148	0.0039	0.0060	0.0058	0.0062	0.0058	0.0092	0.0056	0.0054	0.0084	0.0081	0.0011	0.0129	0.0063	0.0131	0	0.0014	0	0.0092	0.0122	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	5407.14	202	chr3	195782159	.	TGGTGACAGGAAGAGCGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTC	T	5407.14	.	AC=1;AF=0.125;AN=8;BaseQRankSum=2.5;DP=1867;ExcessHet=0;FS=3.644;MLEAC=1;MLEAF=0.125;MQ=55.03;MQRankSum=-13.02;QD=9.59;ReadPosRankSum=-1.059;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:402,162:564:99:0|1:195782115_G_A:5415,0,15777:195782115	3	0	1	3
chr3	195783456	195783599	GGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.7981_8124del:p.S2661_T2708del	.	589	869	23	27	14	91	0.0424242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0246	0.0067	0.0367	0.0512	0.0233	0.0302	0.0205	0.0203	.	.	.	.	0.0078	0.0085	0.0073	0.0084	0.0160	0.0077	0.0076	0.0125	0.0120	0.0045	0.0137	0.0177	0.0116	0.0067	0.0160	0.0069	0.0107	0.0117	0.0011	0.0014	0.0007	0.0015	0.0043	0.0005	0.0003	0.0006	0.0004	0	0	0	0	0.0043	0	0	0.0016	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	213.41	34	chr3	195783455	.	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C	213.41	.	AC=2;AF=0.143;AN=14;DP=259;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=28.79;QD=1.59;SOR=1.153	GT:AD:DP:GQ:PL	1/1:0,8:8:19:234,19,0	6	1	0	0
chr3	195785088	195785088	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	239.4	799	chr3	195785088	.	G	*	239.4	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.32;DP=4640;ExcessHet=0;FS=0.573;MLEAC=2;MLEAF=0.2;MQ=57.48;MQRankSum=0.325;QD=0.5;ReadPosRankSum=-0.181;SOR=0.608	GT:AD:DP:GQ:PL	0/1:304,135:439:99:3627,0,9976	3	0	2	2
chr3	195785122	195785122	A	0	exonic	MUC4	.	.	.	.	662	820	8	1	31	41	0.00606061	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7458.91	968	chr3	195785122	.	A	*	7458.91	.	AC=1;AF=0.167;AN=6;BaseQRankSum=7.57;DP=4952;ExcessHet=1.7609;FS=0.607;MLEAC=1;MLEAF=0.167;MQ=56.83;MQRankSum=-9.095;QD=3.02;ReadPosRankSum=-1.255;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:304,135:439:99:.:.:3627,0,9976:.	2	0	1	4
chr3	195785133	195785133	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	81945.5	947	chr3	195785133	.	T	*	81945.5	.	AC=2;AF=0.25;AN=8;DP=4831;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=56.74;QD=33.38;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,137:376:99:.:.:16262,7649,7786:.	2	0	2	3
chr3	195867926	195867926	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.C2423T:p.P808L,TNK2:NM_001382271:exon12:c.C2423T:p.P808L,TNK2:NM_005781:exon12:c.C2327T:p.P776L,TNK2:NM_001010938:exon13:c.C2444T:p.P815L,TNK2:NM_001382272:exon13:c.C2444T:p.P815L,TNK2:NM_001382273:exon13:c.C2372T:p.P791L,TNK2:NM_001382274:exon13:c.C2372T:p.P791L,TNK2:NM_001382275:exon13:c.C2468T:p.P823L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.821604457295	.	.	3.568e-05	0	0.0003	0	0	2.907e-05	0	0	1.29e-05	2	154602	rs771225452	1.952e-05	1.984e-05	1.715e-05	2.194e-05	3.64e-05	1.337e-05	1.146e-05	1.498e-05	1.258e-05	0	3.64e-05	0	2.6e-05	0	0	2.214e-05	1.744e-05	0	6.578e-06	6.567e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.645	0.77386	M	-0.7	0.72785	T	-6.77	0.92782	D	0.567	0.60918	-0.0366	0.81492	T	0.469	0.79519	T	10	0.82811755	0.81983	D	0.821604	0.98613	D	0.583	0.83249	0.417	0.45709	0.950338613545	0.94981	0.2693120236306545	0.26844	0.0273631188102	0.02796	0.880067884922	0.93970	D	0.247012	0.76581	T	0.0949384	0.63741	D	-0.101404	0.63290	T	0.934166760356349	0.60144	D	0.964104	0.86689	D	0.51170737	0.67779	0.48301604	0.70068	0.51170737	0.67780	0.48301604	0.70068	-5.473	0.41615	T	.	.	0.311	0.53838	B	.;.;.;.	.;.;.;.	4.711343	0.75686	26.4	0.99915165963269015	0.98379	0.99723	0.98972	D	AEFDBI	0.924518	0.90266	D	0.730272964270651	0.81618	7.564376	0.708937327279294	0.83058	7.923015	0.999999999845317	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.86	4.86	0.62624	7.047000	0.76316	11.728000	0.94942	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	16.645	0.85030	884	0.28482	Mig-6 domain;.;Mig-6 domain;Mig-6 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	922.27	30	chr3	195867926	.	G	A	922.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.27;DP=239;ExcessHet=0;FS=3.688;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.12;ReadPosRankSum=1.95;SOR=1.236	GT:AD:DP:GQ:PL	0/1:26,35:61:99:932,0,703	5	0	1	1
chr3	195868011	195868011	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.C2338T:p.R780W,TNK2:NM_001382271:exon12:c.C2338T:p.R780W,TNK2:NM_005781:exon12:c.C2242T:p.R748W,TNK2:NM_001010938:exon13:c.C2359T:p.R787W,TNK2:NM_001382272:exon13:c.C2359T:p.R787W,TNK2:NM_001382273:exon13:c.C2287T:p.R763W,TNK2:NM_001382274:exon13:c.C2287T:p.R763W,TNK2:NM_001382275:exon13:c.C2383T:p.R795W	.	401	1120	1	0	0	1	0.000446229	.	.	.	2020807	TNK2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.365	0.66346687593	0.0002	0.000399361	0.0008	0	0	0.0005	0	0.0013	0	0.0004	0.0003428	53	154602	rs202015088	0.0004	0.0004	0.0004	0.0004	0.0018	0.0004	0.0004	0.0014	0.0013	6.085e-05	0.0003	0.0086	0.0018	2.478e-05	0.0009	0.0002	0.0009	0.0003	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0002	0.0002	0.0002	0	0.0005	0.0101	0.0006	0	0	0.0003	0.0009	0.0004	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000005	0.62929	D	0.061434	0.999734	0.48635	D	2.05	0.56469	M	-0.44	0.69777	T	-5.43	0.85323	D	0.565	0.58883	-0.2165	0.77245	T	0.416	0.76299	T	10	0.013443083	0.00285	T	0.663467	0.97178	D	0.365	0.68495	.	.	0.92906767235	0.92833	0.38608878466847596	0.38523	0.0325248027016	0.03398	0.836178481579	0.87511	D	0.268049	0.84189	T	-0.149685	0.28361	T	-0.14041	0.60082	T	0.284063249826431	0.24342	T	0.974103	0.90741	D	0.36661342	0.58334	0.29224676	0.55251	0.36661342	0.58334	0.29224676	0.55250	-10.297	0.75671	D	.	.	0.397	0.59415	A	.;.;.;.	.;.;.;.	4.000828	0.58953	24.0	0.99898999595798899	0.97124	0.97124	0.72830	D	AEFDBI	0.792571	0.72083	D	0.436182356871003	0.63423	4.575795	0.361901410264534	0.59228	4.098875	0.997822298415989	0.36074	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.01	4.1	0.47196	2.778000	0.47412	2.393000	0.32551	0.669000	0.69127	1.000000	0.71638	0.997000	0.33255	0.275000	0.23893	0.0:0.0:0.6045:0.3955	10.986	0.46737	884	0.28482	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001527	0.005263	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	687.45	32	chr3	195868011	.	G	A	687.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.363;DP=236;ExcessHet=0;FS=2.43;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.829;SOR=0.936	GT:AD:DP:GQ:PL	0/1:21,28:49:99:698,0,500	6	0	1	0
chr4	1717538	1717538	G	A	exonic	TMEM129	.	nonsynonymous SNV	TMEM129:NM_001127266:exon3:c.C818T:p.A273V	.	409	1106	7	0	0	7	0.00315457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0093497969941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs967552791	6.479e-06	9.577e-06	4.256e-06	8.769e-06	0.0005	3.05e-06	2.21e-06	0.0001	7.667e-05	0	0	0	2.805e-05	0	0.0005	0	8.688e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.511	0.07473	T	0.525	0.10281	T	0.0	0.02946	B	0.001	0.04355	B	0.229154	0.15960	N	0.589252	1	0.08975	N	-0.715	0.01801	N	1.01	0.41058	T	0.28	0.04233	N	0.048	0.01999	-1.0245	0.22246	T	0.041	0.17657	T	10	0.037513316	0.02111	T	0.00935	0.24530	T	0.033	0.08068	0.346	0.34112	0.184867976434	0.18130	0.14288460426715333	0.14211	0.225302997667	0.25073	0.457398056984	0.32954	T	0.003758	0.03171	T	-0.304151	0.08274	T	-0.674668	0.07313	T	0.0879184678196907	0.10969	T	0.714229	0.32652	T	0.05272971	0.09877	0.052770026	0.08761	0.05272971	0.09876	0.052770026	0.08760	-5.018	0.37035	T	.	.	0.076	0.05935	B	.;.	.;.	1.545059	0.19810	14.45	0.84446856926633906	0.15297	0.33744	0.24902	N	AEFDBCI	0.103274	0.20695	N	-0.778385809651138	0.13874	0.6867491	-0.625286535109845	0.18844	1.008475	0.999998556574646	0.74766	0.634777	0.41761	0	0.577304	0.33150	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	4.69	3.85	0.43556	1.360000	0.33729	4.943000	0.46226	0.671000	0.69459	0.002000	0.15269	1.000000	0.68203	0.976000	0.56436	0.1673:0.0:0.8327:0.0	9.155	0.36146	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	670.83	28	chr4	1717538	.	G	A	670.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.727;DP=234;ExcessHet=0;FS=1.05;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.293;SOR=0.54	GT:AD:DP:GQ:PL	0/1:25,27:52:99:681,0,562	6	0	1	0
chr4	2939590	2939590	G	A	exonic	NOP14	.	nonsynonymous SNV	NOP14:NM_001291978:exon16:c.C2255T:p.P752L,NOP14:NM_001291979:exon16:c.C2255T:p.P752L,NOP14:NM_003703:exon16:c.C2255T:p.P752L	.	433	1048	40	1	0	42	0.0196445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	.	0.0038	0.00459265	0.0064	0.0006	0.0018	0.0001	0.0051	0.0066	0.0077	0.0165	0.0060672	938	154602	rs13106867	0.0055	0.0055	0.0051	0.0060	0.0184	0.0054	0.0054	0.0158	0.0155	0.0010	0.0028	0.0060	0.0002	0.0051	0.0184	0.0050	0.0068	0.0165	0.0048	0.0048	0.0043	0.0053	0.0192	0.0045	0.0044	0.0161	0.0149	0.0010	0.0549	0.0039	0.0063	0.0006	0.0057	0.0170	0.0057	0.0043	0.0192	0.317	0.13699	T	0.016	0.60972	D	0.909	0.50183	P	0.373	0.47904	B	0.000133	0.49741	D	0.144423	1	0.81001	D	3.005	0.85968	M	0.79	0.49068	T	-3.61	0.69593	D	0.391	0.43803	-0.6701	0.61824	T	0.173	0.51516	T	10	0.012910634	0.00276	T	.	.	.	0.295	0.61502	.	.	0.683028895158	0.68032	0.5370915239200252	0.53634	0.190579467298	0.21375	0.449606895447	0.31890	T	0.086746	0.37791	T	-0.279776	0.10692	T	-0.161029	0.58259	T	0.063309094178656	0.07679	T	0.846915	0.52723	T	0.16191176	0.36232	0.1469953	0.34804	0.16191176	0.36231	0.1469953	0.34804	-8.933	0.67264	D	.	.	0.105	0.26074	B	.;.;.;.	.;.;.;.	3.920123	0.57225	23.8	0.96736791081005902	0.30910	0.95832	0.66344	D	AEFDBCI	0.420789	0.48747	N	0.419843755712282	0.62514	4.468512	0.392240088941957	0.61087	4.303902	0.999999999713142	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.558000	0.60498	8.484000	0.77308	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:1.0:0.0	20.428	0.99077	641	0.64016	.;.;.;.	.	.	.	.	rs13106867	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.005051	0.008152	0.008772	0.000000	0.034483	0.027439	0.015152	0.07143	1454.53	36	chr4	2939590	.	G	A	1454.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.07;DP=347;ExcessHet=0;FS=2.04;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-1.863;SOR=0.89	GT:AD:DP:GQ:PL	0/1:91,65:156:99:1465,0,2080	6	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1395.26	65	chr4	6862306	.	T	C	1395.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.044;DP=565;ExcessHet=11.5949;FS=236.492;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=0.983;SOR=10.163	GT:AD:DP:GQ:PL	0/1:79,22:101:78:78,0,1747	0	0	6	1
chr4	8227738	8227738	G	A	exonic	SH3TC1	.	nonsynonymous SNV	SH3TC1:NM_001318480:exon12:c.G1816A:p.E606K,SH3TC1:NM_018986:exon12:c.G2044A:p.E682K	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	.	0.0034	0.00479233	0.0012	0.0147	0.0002	0	0	5.177e-05	0.0014	0	0.0010673	165	154602	rs28373389	0.0004	0.0004	0.0004	0.0003	0.0121	0.0003	0.0003	0.0111	0.0107	0.0121	0.0004	0	2.528e-05	0	0.0009	4.429e-05	0.0008	7.031e-05	0.0035	0.0035	0.0035	0.0034	0.0121	0.0032	0.0031	0.0112	0.0109	0.0121	0	0.0008	0	0	0	0	0.0001	0.0014	0	0.005	0.63226	D	0.028	0.54934	D	0.999	0.77913	D	0.95	0.68788	D	0.063238	0.22041	N	0.482229	0.555909	0.32172	D	2.72	0.79541	M	-0.24	0.66834	T	-3.34	0.66325	D	0.446	0.48411	0.144	0.84949	D	0.390	0.74423	T	10	0.009413213	0.00212	T	.	.	.	0.553	0.81544	.	.	0.784758495626	0.78276	0.1983896262466883	0.19755	0.223266731132	0.24851	0.749851882458	0.74425	T	0.046391	0.27410	T	-0.289675	0.09669	T	-0.177843	0.56722	T	0.0317274121131706	0.02262	T	0.920308	0.71149	D	0.3514037	0.57176	0.40442678	0.64870	0.3514037	0.57176	0.40442678	0.64870	-9.086	0.68248	D	.	.	0.164	0.36275	B	.	.	4.691609	0.75187	26.3	0.99912624074408352	0.98167	0.87723	0.47359	D	AEFDBCI	0.482423	0.52329	N	0.46570412955227	0.65099	4.780113	0.404780847723544	0.61861	4.392385	0.999999987600345	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.578056	0.29568	0	0.735409	0.98432	0	.	.	4.46	3.59	0.40253	3.885000	0.55896	7.158000	0.57695	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.2843:0.7157:0.0	14.174	0.65069	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003030	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1084.53	33	chr4	8227738	.	G	A	1084.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.227;DP=273;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.86;ReadPosRankSum=-0.226;SOR=0.632	GT:AD:DP:GQ:PL	0/1:29,44:73:99:1095,0,633	6	0	1	0
chr4	9243949	9243949	G	A	exonic	USP17L17	.	nonsynonymous SNV	USP17L17:NM_001256857:exon1:c.G71A:p.R24Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.577274667696	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348310188	8.479e-06	4.763e-05	4.575e-06	1.185e-05	1.047e-05	1.98e-06	1.34e-06	2.79e-06	7.7e-07	0	0	0	0	0	0	1.047e-05	3.699e-05	0	0	3.321e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.395	0.10659	T	0.681	0.06090	T	.	.	.	.	.	.	0.009125	0.01230	N	82.304000	1	0.08975	N	.	.	.	2.72	0.11947	T	0.13	0.05503	N	0.059	0.04307	-1.0113	0.26510	T	0.019	0.07753	T	7	0.14243728	0.27053	T	0.577275	0.96199	D	0.025	0.05312	0.353	0.35246	0.0482279557977	0.04254	0.05032525393167854	0.04975	.	.	0.453571140766	0.32432	T	0.005	0.04113	T	-0.363968	0.03911	T	-0.760592	0.03091	T	0.0923963636159897	0.11498	T	0.738526	0.35642	T	0.054294392	0.10398	0.06596569	0.13445	0.054294392	0.10398	0.06596569	0.13444	-3.11	0.11411	T	.	.	0.080	0.07554	B	.;.	.;.	1.003661	0.13822	10.37	0.78325054079193202	0.12252	0.00081	0.00551	N	AEFI	0.023151	0.01251	N	-0.95166852704938	0.09656	0.4579098	-1.12208298280628	0.07280	0.3534836	1.14241020842926E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	0.37	0.15392	0.018000	0.13315	.	.	0.301000	0.18947	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	416.44	194	chr4	9243949	.	G	A	416.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.122;DP=2044;ExcessHet=0;FS=0.827;MLEAC=1;MLEAF=0.071;MQ=34.01;MQRankSum=-1.264;QD=0.98;ReadPosRankSum=1.47;SOR=0.557	GT:AD:DP:GQ:PL	0/1:366,61:427:99:427,0,10878	6	0	1	0
chr4	20850635	20850635	C	T	exonic	KCNIP4	.	nonsynonymous SNV	KCNIP4:NM_147181:exon1:c.G34A:p.V12I,KCNIP4:NM_001035003:exon2:c.G121A:p.V41I,KCNIP4:NM_001035004:exon2:c.G10A:p.V4I,KCNIP4:NM_001363504:exon2:c.G145A:p.V49I,KCNIP4:NM_025221:exon2:c.G136A:p.V46I,KCNIP4:NM_147183:exon2:c.G133A:p.V45I,KCNIP4:NM_147182:exon3:c.G10A:p.V4I	.	.	.	.	.	.	.	.	.	.	.	3687548	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0207295599255	.	0.000399361	0.0002	9.707e-05	0.0005	0.0002	0	0.0001	0	0.0002	0.0001552	24	154602	rs201670726	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0002	0.0004	0.0001	7.573e-05	0	0	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0004	0	0.0002	9.425e-05	0	0.0002	0.0009	0.0002	0.054	0.44358	T	0.327	0.38016	T	0.012	0.22806	B	0.005	0.12992	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.5	0.72771	M	-0.57	0.72011	T	-0.9	0.24244	N	0.276	0.35514	-0.6991	0.60481	T	0.286	0.65763	T	10	0.09835929	0.17778	T	0.02073	0.43381	T	0.102	0.29158	.	.	0.584346760627	0.58108	0.24815178257916218	0.24729	0.42410843782	0.42847	0.572387516499	0.49016	T	0.041912	0.26014	T	-0.174276	0.24590	T	-0.182135	0.56325	T	0.0992934162116979	0.12279	T	0.925707	0.79188	D	0.24686614	0.47659	0.18968864	0.42329	0.24686614	0.47659	0.18968864	0.42328	-4.276	0.56508	T	.	.	0.106	0.23675	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.216687	0.63743	24.6	0.99708533552739587	0.81143	0.97764	0.76963	D	AEFBI	0.809939	0.73331	D	0.106724553452293	0.46777	2.912873	0.282197604517835	0.54500	3.614796	0.999999816947159	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	6.167000	0.71757	3.986000	0.40947	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:1.0:0.0:0.0	19.227	0.93807	920	0.19381	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001019	0.000000	0.000000	0.000000	0.000000	0.000000	0.003165	0.003817	0.07143	473.49	29	chr4	20850635	.	C	T	473.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.2;DP=212;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=3.09;SOR=0.927	GT:AD:DP:GQ:PL	0/1:30,22:52:99:484,0,602	6	0	1	0
chr4	38797505	38797505	A	T	exonic	TLR1	.	nonsynonymous SNV	TLR1:NM_003263:exon4:c.T1327A:p.L443I	.	.	.	.	.	.	.	.	.	.	.	3211944	TLR1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.062	0.0101568196347	7.7e-05	.	0.0002	9.843e-05	0.0004	0	0	0.0003	0	0	0.000194	30	154602	rs199899599	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0002	0.0003	0.0027	0	0	0.0014	0.0002	0.0005	2.319e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.218e-05	0	0.0004	0.0035	0	0	0.0034	0.0001	0.0005	0	0.002	0.72154	D	0.081	0.41742	T	0.717	0.42239	P	0.45	0.46092	P	0.000237	0.47286	D	0.000000	0.998794	0.45457	D	2.23	0.63091	M	1.65	0.27650	T	-1.85	0.43334	N	0.302	0.34120	-1.1051	0.03527	T	0.065	0.26948	T	10	0.042436093	0.02992	T	0.010157	0.26368	T	0.062	0.17934	.	.	0.353336612579	0.34937	0.08303136438479432	0.08238	0.104681082097	0.11842	0.47429934144	0.35273	T	0.17305	0.52177	T	-0.323166	0.06642	T	-0.396005	0.33850	T	0.107364311814308	0.13148	T	0.711229	0.32236	T	0.3371501	0.56052	0.16466756	0.38134	0.3371501	0.56052	0.16466756	0.38133	-5.759	0.44215	T	.	.	0.116	0.23535	B	.;.	.;.	3.032030	0.40618	21.2	0.99056316372079922	0.51367	0.94133	0.60212	D	AEFDGBI	0.539587	0.55650	D	0.0185946775842677	0.42700	2.577821	0.017131926333151	0.40511	2.418807	0.995969194962237	0.34438	0.732398	0.92422	0	0.743671	0.97443	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.86	1.0	0.18999	2.555000	0.45515	1.682000	0.28018	0.756000	0.94297	1.000000	0.71638	0.901000	0.27973	0.987000	0.62547	0.7268:0.0:0.1441:0.1291	5.441	0.15804	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003525	0.000000	0.009511	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1812.44	39	chr4	38797505	.	A	T	1812.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.984;DP=399;ExcessHet=0;FS=8.428;MLEAC=1;MLEAF=0.071;MQ=58.1;MQRankSum=1.58;QD=17.94;ReadPosRankSum=-0.699;SOR=0.253	GT:AD:DP:GQ:PL	0/1:36,65:101:99:1823,0,967	6	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	514.71	21	chr4	87615730	.	ATAG	*	514.71	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=58.07;QD=3.06;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,44:45:92:.:.:1760,92,0:.	2	1	4	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	601.9	21	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	601.9	.	AC=6;AF=0.429;AN=14;DP=276;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=57.54;QD=3.58;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,44:45:92:.:.:1760,92,0:.	2	1	4	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	978.75	100	chr4	99318097	.	C	G	978.75	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.434;DP=759;ExcessHet=3.1439;FS=289.841;MLEAC=5;MLEAF=0.5;MQ=59.98;MQRankSum=0;QD=1.93;ReadPosRankSum=-0.36;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,49:153:99:.:.:384,0,1212:.	1	0	4	2
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1470.26	74	chr4	99347057	.	C	G	1470.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.608;DP=640;ExcessHet=11.5949;FS=371.344;MLEAC=6;MLEAF=0.5;MQ=59.94;MQRankSum=0;QD=2.7;ReadPosRankSum=-0.101;SOR=10.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,40:110:99:.:.:340,0,608:.	0	0	6	1
chr4	112430694	112430694	A	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001253884:exon10:c.A913G:p.K305E,ALPK1:NM_001102406:exon11:c.A1147G:p.K383E,ALPK1:NM_025144:exon11:c.A1147G:p.K383E	.	435	1063	24	0	0	24	0.0111628	.	.	.	2113218	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.020	0.00449991429976	0.0010	0.00199681	0.0024	0.0003	0.0026	0	0.0002	0.0018	0.0033	0.0084	0.0023932	370	154602	rs147641444	0.0022	0.0022	0.0020	0.0024	0.0083	0.0022	0.0021	0.0078	0.0076	0.0002	0.0019	0.0029	2.519e-05	0.0001	0.0055	0.0019	0.0026	0.0083	0.0012	0.0012	0.0014	0.0011	0.0077	0.0011	0.0010	0.0057	0.0050	0.0003	0	0.0010	0.0046	0.0002	0	0.0034	0.0014	0.0019	0.0077	0.174	0.22660	T	0.762	0.05238	T	0.023	0.18885	B	0.01	0.14941	B	0.108754	0.02618	N	1.678220	1	0.08975	N	0.345	0.11182	N	4.25	0.02564	T	-0.27	0.12472	N	0.131	0.14338	-0.9445	0.41895	T	0.005	0.01506	T	10	0.0044231415	0.00090	T	0.004	0.11063	T	0.020	0.03691	.	.	0.148003135375	0.14442	.	.	0.134647161538	0.15172	0.21466101706	0.01025	T	0.00734	0.06752	T	-0.595399	0.00155	T	-0.621203	0.11091	T	0.00529022771776679	0.00057	T	0.776522	0.40874	T	0.16763307	0.37172	0.09509976	0.22539	0.2162774	0.44082	0.17180938	0.39390	-6.965	0.53778	T	0.2458817418636663	0.33302	0.112	0.21840	B	.;.;.	.;.;.	-0.796730	0.01113	0.051	0.71439283827121958	0.09629	0.10090	0.15691	N	AEFGBI	0.110451	0.21903	N	-1.45166443637729	0.02203	0.09704503	-1.55238449799688	0.01960	0.08946916	0.998452585156744	0.36996	0.693126	0.56070	0	0.659464	0.62310	0	0.573888	0.23631	0	0.615788	0.45269	1	.	.	5.72	-9.7	0.00436	-0.631000	0.05593	-0.742000	0.07615	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.071000	0.16709	0.2862:0.4148:0.2228:0.0763	4.626	0.11865	798	0.45050	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.000000	0.001359	0.005848	0.000000	0.008621	0.012195	0.015152	0.1429	2427.65	43	chr4	112430694	.	A	G	2427.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.33;DP=360;ExcessHet=0.3476;FS=7.757;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.074;SOR=0.354	GT:AD:DP:GQ:PL	0/1:32,32:64:99:933,0,932	5	0	2	0
chr4	112585671	112585671	G	C	exonic	ZGRF1	.	stopgain	ZGRF1:NM_001350397:exon13:c.C3797G:p.S1266X,ZGRF1:NM_018392:exon14:c.C3971G:p.S1324X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.46e-06	3.42e-06	4.131e-06	2.783e-06	4.532e-06	1.01e-06	7.4e-07	1.33e-06	9.7e-07	0	0	0	0	0	0	4.532e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024940	0.26177	N	0.267337	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.264	0.31027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55994	0.96164	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.035821	0.97111	37	0.99566340608292414	0.72075	0.86747	0.46094	D	AEFBI	0.127011	0.24419	N	0.956322098490418	0.94233	12.60124	0.810700855064453	0.90527	10.44828	0.553870687567886	0.21357	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.655142	0.61905	0	.	.	5.65	4.8	0.61157	1.690000	0.37329	3.668000	0.39428	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.998000	0.85391	0.1274:0.0:0.749:0.1237	8.942	0.34894	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1063.53	33	chr4	112585671	.	G	C	1063.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.51;DP=263;ExcessHet=0;FS=3.197;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.6;SOR=1.114	GT:AD:DP:GQ:PL	0/1:32,43:75:99:1074,0,661	6	0	1	0
chr4	125318694	125318694	G	T	exonic	FAT4	.	nonsynonymous SNV	FAT4:NM_001291285:exon2:c.G2283T:p.L761F,FAT4:NM_001291303:exon2:c.G2283T:p.L761F,FAT4:NM_024582:exon2:c.G2283T:p.L761F	Hennekam lymphangiectasia-lymphedema syndrome 2, Autosomal recessive;Van Maldergem syndrome 2, Autosomal recessive	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0260745250407	.	.	8.29e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs749643997	1.368e-06	1.368e-06	2.723e-06	0	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.014012	0.28663	U	0.000000	0.999664	0.48141	D	1.505	0.38159	L	0.44	0.56609	T	-3.06	0.63090	D	0.8	0.79599	-0.7940	0.55496	T	0.224	0.58805	T	10	0.8532305	0.84508	D	0.026075	0.49013	D	0.337	0.65913	0.739	0.87147	0.403974779092	0.40011	0.473600982017976	0.47279	0.676578416316	0.59777	0.659616053104	0.61355	T	0.371872	0.73616	T	-0.0147627	0.49597	T	-0.258982	0.48925	T	0.908304810523987	0.56285	D	0.906909	0.67118	D	0.19165024	0.40801	0.1825334	0.41186	0.19165024	0.40801	0.1825334	0.41185	-4.536	0.31356	T	.	.	0.664	0.71501	P	.	.	2.840466	0.37476	20.5	0.99842508389605344	0.92316	0.85186	0.44297	D	AEFBCI	0.430682	0.49328	N	0.252380453548935	0.53756	3.543215	0.170208199170942	0.48221	3.041133	0.999839725349561	0.43792	0.542737	0.22433	0	0.573888	0.26702	0	0.563428	0.18855	0	0.638787	0.57140	0	.	.	5.48	1.79	0.23992	1.388000	0.34048	1.218000	0.24956	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.871000	0.41478	0.2719:0.2426:0.4855:0.0	5.511	0.16169	932	0.16191	Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1580.44	34	chr4	125318694	.	G	T	1580.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.442;DP=605;ExcessHet=0;FS=2.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-1.975;SOR=0.633	GT:AD:DP:GQ:PL	0/1:69,64:133:99:1591,0,1857	6	0	1	0
chr4	127714045	127714045	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon15:c.G2669C:p.W890S	.	.	.	.	.	.	.	.	.	.	.	1516944	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.631	0.0207952334296	0.0002	0.000199681	0.0005	0	0.0002	0	0.0012	0.0006	0	0.0010	0.000511	79	154602	rs187393671	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0015	0.0014	2.989e-05	0.0002	0.0001	0	0.0017	0.0003	0.0005	0.0004	0.0018	0.0004	0.0004	0.0004	0.0005	0.0006	0.0004	0.0003	0.0005	0.0004	2.408e-05	0	6.536e-05	0.0006	0	0.0017	0	0.0006	0	0.0006	0.065	0.36310	T	0.0	0.92824	D	0.936	0.52359	P	0.618	0.51338	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.535	0.73915	M	.	.	.	-3.73	0.70920	D	0.595	0.61426	-0.5762	0.65768	T	0.249	0.61878	T	9	0.12431356	0.23609	T	0.020795	0.43464	T	0.631	0.85821	.	.	0.552085806491	0.54867	0.5363066851238923	0.53555	0.460401629699	0.45600	0.637412548065	0.58196	T	0.726604	0.92314	D	-0.0881323	0.38384	T	0.0600944	0.74250	D	0.108235877057239	0.13239	T	0.918108	0.70532	D	0.65851605	0.75820	0.59255475	0.76353	0.65851605	0.75821	0.59255475	0.76354	-7.276	0.56024	T	0.5589888437469488	0.62689	0.202	0.42592	B	.	.	4.885491	0.80157	27.3	0.98701500705482337	0.44910	0.98894	0.88280	D	AEFI	0.856391	0.77362	D	0.588989333186188	0.72486	5.813449	0.586728715859561	0.73989	6.061236	0.999992283802999	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.2	4.2	0.48814	8.970000	0.92989	9.748000	0.81461	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.755	0.85358	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	710.53	36	chr4	127714045	.	G	C	710.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.796;DP=250;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=0.705;SOR=0.723	GT:AD:DP:GQ:PL	0/1:31,36:67:99:721,0,646	6	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1667.34	47	chr4	140563137	.	C	G	1667.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-1.692;DP=408;ExcessHet=11.5949;FS=373.141;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.61;ReadPosRankSum=-0.677;SOR=9.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,27:67:99:.:.:425,0,1218:.	0	0	6	1
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1464.34	47	chr4	140563138	.	C	G	1464.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.877;DP=414;ExcessHet=11.5949;FS=372.265;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=-0.457;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,21:67:99:.:.:325,0,1246:.	0	0	6	1
chr4	145823440	145823440	C	T	exonic	ZNF827	.	nonsynonymous SNV	ZNF827:NM_001306215:exon8:c.G2365A:p.G789R,ZNF827:NM_178835:exon8:c.G2365A:p.G789R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0230671324811	.	.	8.237e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs753379469	6.164e-06	6.156e-06	8.178e-06	4.13e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	2.526e-05	0	0.0002	6.302e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.001	0.83351	D	0.63	0.65571	P	0.082	0.52168	B	0.036530	0.24511	N	0.480428	0.806494	0.29052	N	1.61	0.41143	L	3.27	0.07353	T	0.35	0.04306	N	0.546	0.73645	-1.0604	0.11656	T	0.017	0.06855	T	10	0.2452417	0.41769	T	0.023067	0.46009	T	0.041	0.10877	0.435	0.48664	0.043077524339	0.03247	0.5518396132785052	0.55109	1.42638088576	0.85728	0.605828940868	0.53727	T	0.024444	0.18471	T	-0.308489	0.07881	T	-0.511772	0.21132	T	0.620351135730743	0.37220	D	0.935006	0.75597	D	0.09319128	0.21881	0.08509722	0.19625	0.09319128	0.21881	0.08509722	0.19624	-2.888	0.09203	T	.	.	0.173	0.37988	B	.;.;.	.;.;.	4.118141	0.61538	24.3	0.99781285735309655	0.86780	0.72143	0.35323	D	AEFBI	0.074897	0.15026	N	-0.0696789817962693	0.38729	2.272745	0.00119102360204635	0.39772	2.363221	0.995613964389897	0.34224	0.706298	0.61202	0	0.71359	0.82159	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.42	2.61	0.30255	2.377000	0.43955	3.989000	0.40972	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.930000	0.46718	0.1458:0.6901:0.0:0.1641	6.712	0.22469	228	0.91137	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2730.27	34	chr4	145823440	.	C	T	2730.27	.	AC=2;AF=0.143;AN=14;DP=272;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.05;SOR=0.736	GT:AD:DP:GQ:PL	1/1:0,94:94:99:2751,282,0	6	1	0	0
chr4	147657807	147657807	C	T	exonic	PRMT9	.	nonsynonymous SNV	PRMT9:NM_001350143:exon6:c.G400A:p.V134I,PRMT9:NM_001304458:exon7:c.G976A:p.V326I,PRMT9:NM_001350141:exon7:c.G247A:p.V83I,PRMT9:NM_001350144:exon7:c.G91A:p.V31I,PRMT9:NM_138364:exon8:c.G1315A:p.V439I,PRMT9:NM_001350142:exon9:c.G976A:p.V326I	.	.	.	.	.	.	.	.	.	.	.	2209829	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0366883680571	.	0.000199681	1.659e-05	0	0	0	0	1.507e-05	0	6.116e-05	1.94e-05	3	154602	rs564517370	1.984e-05	1.984e-05	1.634e-05	2.338e-05	0.0002	1.392e-05	1.204e-05	1.214e-05	1.03e-05	2.988e-05	4.473e-05	0	0	0	0.0002	1.889e-05	1.656e-05	3.478e-05	5.991e-05	5.915e-05	6.494e-05	5.463e-05	0.0002	3.114e-05	2.236e-05	1.978e-05	1.129e-05	7.367e-05	0	6.679e-05	0	0.0002	0	0	5.907e-05	0	0	0.178	0.22138	T	0.06	0.45744	T	0.97	0.56973	D	0.367	0.43430	B	0.000569	0.43250	N	0.197056	0.999794	0.81001	D	1.655	0.42436	L	2.06	0.20523	T	-0.27	0.11366	N	0.159	0.16586	-1.1044	0.03598	T	0.057	0.24092	T	10	0.10715416	0.19891	T	0.036688	0.57148	D	0.156	0.40720	0.518	0.61915	0.239305524855	0.23518	0.22830777700167287	0.22745	0.185613186757	0.20870	0.287114471197	0.08504	T	0.028348	0.20554	T	-0.343147	0.05173	T	-0.549156	0.17408	T	0.108883962035179	0.13307	T	0.662834	0.27173	T	0.072720885	0.16198	0.06158244	0.11916	0.072720885	0.16198	0.06158244	0.11916	-5.086	0.37759	T	.	.	0.082	0.08657	B	.	.	0.937194	0.13128	9.629	0.98931283039178686	0.48750	0.91131	0.52921	D	AEFBI	0.250832	0.37081	N	-0.145276273974169	0.35435	2.035363	-0.153199406306991	0.33286	1.90242	0.999421963342821	0.39630	0.651	0.46895	0	0.653731	0.59785	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.61	3.91	0.44383	2.398000	0.44140	0.845000	0.22080	-0.858000	0.02657	0.971000	0.34370	0.068000	0.22166	0.455000	0.28006	0.0:0.8652:0.0:0.1348	12.592	0.55803	833	0.38804	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	306.83	21	chr4	147657807	.	C	T	306.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.505;DP=164;ExcessHet=0;FS=1.55;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.58;ReadPosRankSum=1.62;SOR=0.394	GT:AD:DP:GQ:PL	0/1:15,14:29:99:317,0,403	6	0	1	0
chr4	153397306	153397307	TG	-	exonic	MND1	.	stopgain	MND1:NM_032117:exon6:c.439_440del:p.C147*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1635.59	33	chr4	153397305	.	CTG	C	1635.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.805;DP=267;ExcessHet=0;FS=0.779;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=-1.233;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,43:94:99:0|1:153397305_CTG_C:1646,0,1991:153397305	6	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T,PALLD:NM_001367569:exon4:c.T254C:p.M85T,PALLD:NM_001166110:exon5:c.T914C:p.M305T,PALLD:NM_001367568:exon5:c.T305C:p.M102T,PALLD:NM_001367570:exon5:c.T305C:p.M102T,PALLD:NM_001166109:exon12:c.T1229C:p.M410T,PALLD:NM_016081:exon13:c.T2375C:p.M792T,PALLD:NM_001166108:exon14:c.T2426C:p.M809T	.	.	.	.	.	.	.	.	.	.	.	4005620	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	242.06	65	chr4	168898668	.	T	C	242.06	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.552;DP=371;ExcessHet=0.4139;FS=110.121;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=0.81;SOR=7.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,12:72:99:0|1:168898668_T_C:151,0,1996:168898668	4	0	2	1
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	911.99	63	chr4	168898669	.	G	A	911.99	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2;DP=357;ExcessHet=1.383;FS=196.096;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=0.453;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,12:72:99:0|1:168898668_T_C:151,0,1996:168898668	2	0	3	2
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	116.05	46	chr4	176711629	.	G	C	116.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.856;DP=319;ExcessHet=0.3476;FS=85.069;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.3;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,12:74:65:0|1:176711629_G_C:65,0,2338:176711629	5	0	2	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2	120.39	46	chr4	176711631	.	G	C	120.39	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.654;DP=305;ExcessHet=0.4139;FS=108.968;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.1;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,12:74:65:0|1:176711629_G_C:65,0,2338:176711629	3	0	2	2
chr4	186163480	186163480	C	T	exonic	FAM149A	.	nonsynonymous SNV	FAM149A:NM_001006655:exon10:c.C890T:p.P297L,FAM149A:NM_001350178:exon10:c.C890T:p.P297L,FAM149A:NM_001350179:exon10:c.C890T:p.P297L,FAM149A:NM_001367768:exon10:c.C1736T:p.P579L,FAM149A:NM_015398:exon10:c.C890T:p.P297L	.	425	1090	6	1	0	8	0.00365631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0003	0.00299521	0.0017	0.0006	0.0002	0.0005	0.0014	0.0003	0.0077	0.0096	0.0015782	244	154602	rs201598032	0.0008	0.0008	0.0006	0.0011	0.0097	0.0008	0.0008	0.0092	0.0090	0.0002	0	0	0.0006	0.0020	0.0033	0.0001	0.0014	0.0097	0.0009	0.0009	0.0005	0.0012	0.0137	0.0007	0.0007	0.0111	0.0101	0.0006	0	0	0	0.0004	0.0018	0	0.0002	0.0009	0.0137	0.123	0.27904	T	0.185	0.30729	T	0.253	0.31246	B	0.015	0.17295	B	0.204809	0.16509	N	0.587035	1	0.08975	N	0.345	0.11182	N	2.64	0.12780	T	-0.95	0.26843	N	0.186	0.20262	-0.9896	0.32702	T	0.018	0.07282	T	10	0.004492551	0.00092	T	.	.	.	0.027	0.05988	.	.	0.141422826196	0.13715	0.055520776042961004	0.05493	0.097110365055	0.10970	0.302019923925	0.10702	T	0.006974	0.06393	T	-0.581705	0.00188	T	-0.601958	0.12647	T	0.00759939833250873	0.00088	T	0.654235	0.30434	T	0.03275125	0.03360	0.030722532	0.01564	0.03275125	0.03359	0.030722532	0.01564	-3.0	0.14550	T	.	.	0.082	0.09820	B	.;.;.;.;.;.	.;.;.;.;.;.	1.161560	0.15504	11.90	0.9067837834580309	0.19929	0.02868	0.07639	N	AEFDBI	0.158766	0.28446	N	-1.1283678472174	0.06143	0.2820047	-1.09986148528249	0.07703	0.3757687	0.00948221202011308	0.11862	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.19	3.35	0.37468	0.031000	0.13598	0.398000	0.17967	-0.168000	0.11412	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2295:0.1253:0.6451:0.0	6.906	0.23489	694	0.58444	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1119.45	36	chr4	186163480	.	C	T	1119.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.327;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.03;ReadPosRankSum=0.607;SOR=0.643	GT:AD:DP:GQ:PL	0/1:73,51:124:99:1130,0,1819	6	0	1	0
chr4	186707592	186707592	T	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon2:c.A2236G:p.T746A	.	433	1064	24	1	0	26	0.0120706	.	.	.	734578	FAT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.048	.	0.0002	0.00199681	0.0017	0.0001	0.0004	0	0	0.0005	0.0022	0.0099	0.0014618	226	154602	rs372906523	0.0008	0.0008	0.0006	0.0011	0.0092	0.0008	0.0008	0.0087	0.0085	5.974e-05	0.0004	0.0014	2.519e-05	0	0.0040	0.0003	0.0011	0.0092	0.0005	0.0005	0.0004	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	7.217e-05	0	0.0002	0.0012	0	0	0	0.0004	0.0014	0.0077	0.33	0.13131	T	0.176	0.29843	T	0.0	0.02946	B	0.003	0.08700	B	0.000094	0.51296	D	0.202552	0.775	0.29395	N	-0.06	0.04898	N	0.72	0.50976	T	-0.84	0.22944	N	0.047	0.02559	-1.0245	0.22246	T	0.059	0.24908	T	10	0.01055342	0.00234	T	.	.	.	0.048	0.13305	.	.	0.241664281697	0.23763	0.20750701503381078	0.20666	0.0949219852667	0.10718	0.296818077564	0.09928	T	0.091958	0.38904	T	-0.561521	0.00249	T	-0.571828	0.15283	T	0.00803127333825077	0.00095	T	0.689731	0.32156	T	0.056769855	0.11213	0.036439214	0.03093	0.050833844	0.09244	0.042284794	0.05000	-3.188	0.12334	T	.	.	0.073	0.04640	B	.;.	.;.	2.579197	0.33439	19.34	0.96441929633970203	0.29830	0.89859	0.50602	D	AEFBCI	0.464412	0.51292	N	-0.472804261906456	0.22975	1.230519	-0.284387891058474	0.28611	1.596661	0.999998175127888	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	4.99	3.78	0.42629	1.942000	0.39870	2.062000	0.30399	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.2088:0.0871:0.0:0.704	4.981	0.13509	951	0.11083	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.07143	2055.44	88	chr4	186707592	.	T	C	2055.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.049;DP=733;ExcessHet=0;FS=1.08;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.481;SOR=0.613	GT:AD:DP:GQ:PL	0/1:108,95:203:99:2066,0,2627	6	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.2143	170.44	6	chr4	189953101	.	C	T	170.44	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.495;DP=60;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=51.64;MQRankSum=-2.141;QD=6.09;ReadPosRankSum=1.47;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,2:9:63:0|1:189953101_C_T:63,0,284:189953101	4	0	3	0
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	183.18	5	chr4	189953126	.	G	T	183.18	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.524;DP=52;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=49.72;MQRankSum=-2.1;QD=7.63;ReadPosRankSum=-0.524;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:189953101_C_T:66,0,246:189953101	4	0	3	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	148.89	60	chr4	189957425	.	A	G	148.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.416;DP=492;ExcessHet=1.1394;FS=3.079;MLEAC=3;MLEAF=0.214;MQ=45.91;MQRankSum=-1.422;QD=0.49;ReadPosRankSum=-1.752;SOR=0.974	GT:AD:DP:GQ:PL	0/1:86,13:99:80:80,0,2134	4	0	3	0
chr5	205824	205824	C	T	exonic	CCDC127	.	nonsynonymous SNV	CCDC127:NM_145265:exon3:c.G256A:p.A86T	.	433	1053	35	1	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	.	0.0042	0.00678914	0.0062	0.0011	0.0059	0.0001	0.0008	0.0060	0.0066	0.0162	0.0059443	919	154602	rs145153903	0.0060	0.0060	0.0057	0.0063	0.0316	0.0059	0.0059	0.0278	0.0264	0.0014	0.0050	0.0048	7.557e-05	0.0018	0.0316	0.0060	0.0060	0.0128	0.0047	0.0047	0.0048	0.0046	0.0158	0.0044	0.0043	0.0129	0.0119	0.0017	0	0.0047	0.0049	0.0002	0.0013	0.0068	0.0067	0.0071	0.0158	0.067	0.35918	T	0.014	0.62352	D	0.999	0.77913	D	0.864	0.61462	P	0.000000	0.84330	D	0.047350	0.999988	0.54805	D	2.6	0.76081	M	0.88	0.46028	T	-2.07	0.47344	N	0.395	0.43610	-0.7261	0.59159	T	0.172	0.51468	T	10	0.004016757	0.00078	T	.	.	.	0.158	0.41098	.	.	0.66879460378	0.66600	0.4770682530751477	0.47626	0.748519116031	0.63645	0.646072626114	0.59428	T	0.109214	0.42290	T	-0.361365	0.04054	T	-0.280176	0.46785	T	0.0153798379553024	0.00343	T	0.927007	0.73102	D	0.15596347	0.35220	0.18596196	0.41740	0.15596347	0.35220	0.18596196	0.41739	-4.564	0.31716	T	.	.	0.236	0.46949	B	.	.	4.429426	0.68673	25.3	0.99925958010282034	0.99042	0.98477	0.83190	D	AEFGBI	0.662197	0.63215	D	0.513168609834142	0.67868	5.139405	0.437856301735222	0.63941	4.638256	0.999999999322867	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.77	4.9	0.63643	7.099000	0.76634	7.623000	0.62394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.1533:0.8467:0.0:0.0	13.918	0.63419	846	0.36215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.020202	0.012228	0.032164	0.000000	0.043103	0.018293	0.011364	0.07143	2279.49	34	chr5	205824	.	C	T	2279.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=394;ExcessHet=0;FS=1.09;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=1.13;SOR=0.799	GT:AD:DP:GQ:PL	0/1:103,98:201:99:2290,0,2269	6	0	1	0
chr5	17655226	17655226	A	G	exonic	H3Y1	.	nonsynonymous SNV	H3Y1:NM_001355258:exon1:c.T313C:p.F105L	.	797	724	1	0	0	1	0.000690131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs542813442	0.0007	0.0012	0.0004	0.0010	0.0123	0.0006	0.0006	0.0110	0.0104	0	0	0	0	0	0	0	0.0004	0.0123	0.0003	0.0003	0.0002	0.0004	0.0094	0.0002	0.0002	0.0072	0.0064	0	0	0	0	0.0002	0	0	0	0	0.0094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010849088	0.00240	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.945705	0.79334	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.843	0.79416	P	.	.	2.237884	0.28571	17.84	0.65337292252374291	0.07744	0.73147	0.35784	D	AEFGI	.	.	.	.	.	.	.	.	.	0.391067937735199	0.20047	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.615181	0.41066	0.547	0.547	0.16392	6.668000	0.74298	1.688000	0.28053	0.703000	0.85290	1.000000	0.71638	0.263000	0.23997	0.007000	0.07825	0.9999:0.0:1.0E-4:0.0	5.374	0.15456	986	0.02773	Histone H2A/H2B/H3	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	119.27	28	chr5	17655226	.	A	G	119.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.542;DP=165;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=57.81;MQRankSum=1.18;QD=3.85;ReadPosRankSum=1.77;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,7:31:99:0|1:17655226_A_G:129,0,967:17655226	5	0	1	1
chr5	23527724	23527724	A	T	exonic	PRDM9	.	nonsynonymous SNV	PRDM9:NM_001310214:exon11:c.A2636T:p.Q879L,PRDM9:NM_001376900:exon11:c.A2636T:p.Q879L,PRDM9:NM_020227:exon11:c.A2636T:p.Q879L	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00537641656325	7.7e-05	0.000599042	0.0004	0	0	0	0	2.997e-05	0	0.0027	0.0003234	50	154602	rs369445995	0.0002	0.0002	8.987e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	0	0	0	0	0.0002	0	0.0002	0.0028	0.0002	0.0002	7.71e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.408e-05	0	0	0	0	0	0	0	0	0.0052	0.002	0.72154	D	0.014	0.62352	D	0.352	0.33688	B	0.338	0.42306	B	.	.	.	.	0.904215	0.27640	N	0.085	0.08345	N	1.27	0.36146	T	-3.95	0.73477	D	0.218	0.24385	-0.9722	0.36734	T	0.076	0.30645	T	9	0.00962469	0.00217	T	0.005376	0.13771	T	0.026	0.05648	.	.	0.218112801441	0.21410	0.025707588112655767	0.02521	0.153314388227	0.17299	0.370471298695	0.20899	T	0.228705	0.59433	T	-0.550723	0.00289	T	-0.569089	0.15534	T	0.159012767441007	0.17798	T	0.433957	0.11861	T	0.28608125	0.51626	0.21881954	0.46599	0.28608125	0.51626	0.21881954	0.46598	-7.877	0.60229	D	.	.	0.303	0.53214	B	.	.	1.579046	0.20209	14.64	0.96553195714734219	0.30233	0.02155	0.06334	N	AEFDGBI	0.035420	0.04555	N	-0.587944469911769	0.19310	1.009607	-0.683131549589688	0.17382	0.924025	0.99999898674643	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.51	1.51	0.22094	-0.438000	0.06975	0.825000	0.21891	-0.149000	0.12139	0.025000	0.20085	0.000000	0.08366	0.060000	0.15972	1.0:0.0:0.0:0.0	5.248	0.14823	984	0.02857	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2662.45	109	chr5	23527724	.	A	T	2662.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.663;DP=739;ExcessHet=0;FS=0.998;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.006;SOR=0.788	GT:AD:DP:GQ:PL	0/1:116,122:238:99:2673,0,2697	6	0	1	0
chr5	32397268	32397268	T	C	exonic	ZFR	.	nonsynonymous SNV	ZFR:NM_016107:exon10:c.A1784G:p.N595S	.	.	.	.	.	.	.	.	.	.	.	2135684	not_specified|Pure_or_complex_autosomal_recessive_spastic_paraplegia	MedGen:CN169374|MedGen:C5679887,Orphanet:320346	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.253	0.0152226984473	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs368796563	6.844e-06	6.84e-06	8.171e-06	5.504e-06	4.481e-05	3.46e-06	2.52e-06	7.43e-06	2.78e-06	0	4.481e-05	3.828e-05	0	0	0	6.297e-06	0	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.007	0.59928	D	0.023	0.57104	D	0.997	0.70673	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	2.1	0.19990	T	-4.11	0.74980	D	0.672	0.67995	-0.9959	0.31055	T	0.129	0.43848	T	10	0.6436486	0.69200	D	0.015223	0.35825	T	0.253	0.56294	.	.	0.428492896387	0.42465	0.7767164747539894	0.77621	0.632130955579	0.57156	0.798129916191	0.81678	T	0.547172	0.84601	D	-0.224888	0.17331	T	-0.384965	0.35141	T	0.510986414376882	0.33034	D	0.977602	0.92086	D	0.363441	0.58096	0.37852016	0.62927	0.363441	0.58097	0.37852016	0.62927	-11.634	0.83023	D	.	.	0.930	0.85048	P	.	.	3.955470	0.57980	23.9	0.99885846524142274	0.96126	0.99190	0.92559	D	AEFBI	0.877764	0.80260	D	0.750429687666853	0.82933	7.886872	0.745229865683857	0.85801	8.690067	0.99999999999258	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.914000	0.86883	7.898000	0.73400	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.747	0.77722	515	0.74782	Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	906.83	34	chr5	32397268	.	T	C	906.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.52;DP=247;ExcessHet=0;FS=0.849;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.481;SOR=0.859	GT:AD:DP:GQ:PL	0/1:41,38:79:99:917,0,960	6	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L,NIPBL:NM_133433:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	265.57	88	chr5	36976312	.	G	C	265.57	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-2.383;DP=583;ExcessHet=0.4139;FS=371.369;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.97;SOR=7.613	GT:AD:DP:GQ:PL	0/1:84,29:130:52:52,0,1319	2	0	2	3
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R,OSMR:NM_001323506:exon18:c.C2879G:p.P960R,OSMR:NM_003999:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0052	0.00838658	0.0113	0.0013	0.0119	0.0001	0.0029	0.0081	0.0198	0.0388	0.0100775	1558	154602	rs34080825	0.0081	0.0081	0.0068	0.0095	0.0468	0.0080	0.0079	0.0422	0.0404	0.0009	0.0093	0.0258	0.0001	0.0022	0.0468	0.0056	0.0099	0.0408	0.0065	0.0065	0.0060	0.0071	0.0330	0.0062	0.0060	0.0289	0.0273	0.0011	0	0.0092	0.0248	0.0004	0.0040	0.0646	0.0070	0.0095	0.0330	0.061	0.37118	T	0.099	0.38891	T	0.845	0.46707	P	0.467	0.46683	P	0.396557	0.04509	N	1.368040	1	0.08975	N	1.78	0.46185	L	1.06	0.39781	T	-1.96	0.45404	N	0.081	0.05670	-1.0181	0.24334	T	0.066	0.27052	T	10	0.0029414892	0.00047	T	.	.	.	0.053	0.14996	.	.	.	.	0.14100321930981063	0.14023	0.237616639877	0.26298	0.225426003337	0.01647	T	0.135175	0.46684	T	-0.569761	0.00222	T	-0.56263	0.16131	T	0.0126930513815079	0.00213	T	0.326967	0.06756	T	0.039785415	0.05556	0.073263034	0.15901	0.035993196	0.04343	0.073263034	0.15901	-4.86	0.35282	T	.	.	0.086	0.10835	B	.	.	1.366445	0.17758	13.35	0.93641793816937802	0.23520	0.23376	0.22056	N	AEFDGBI	0.077479	0.15610	N	-0.35203401344841	0.27197	1.490269	-0.476864511363895	0.22792	1.23975	0.99880471190545	0.37711	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.636168	0.56350	0	.	.	5.79	2.64	0.30504	0.371000	0.20182	0.714000	0.20960	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7212:0.0:0.2788	8.229	0.30746	261	0.89765	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029204	0.030303	0.021739	0.029240	0.000000	0.017241	0.048780	0.041667	0.1429	2554.29	89	chr5	38933380	.	C	G	2554.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.692;DP=385;ExcessHet=0.3476;FS=0.482;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=0.332;SOR=0.75	GT:AD:DP:GQ:PL	0/1:67,76:143:99:1829,0,1772	5	0	2	0
chr5	39383073	39383073	G	A	exonic	DAB2	.	nonsynonymous SNV	DAB2:NM_001244871:exon9:c.C823T:p.R275C,DAB2:NM_001343:exon10:c.C886T:p.R296C	.	422	1099	1	0	0	1	0.000454752	.	.	.	709920	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.045	.	0.0050	0.0081869	0.0027	0.0166	0.0010	0.0150	0	4.495e-05	0	0.0004	0.0024773	383	154602	rs79344176	0.0010	0.0010	0.0010	0.0009	0.0189	0.0009	0.0009	0.0177	0.0172	0.0189	0.0006	0	0.0150	1.872e-05	0.0005	1.169e-05	0.0016	0.0004	0.0052	0.0052	0.0054	0.0048	0.0167	0.0049	0.0047	0.0156	0.0152	0.0167	0	0.0013	0	0.0120	0	0	7.351e-05	0.0024	0	0.167	0.29554	T	0.106	0.39340	T	0.523	0.37559	P	0.122	0.32387	B	0.000001	0.62929	N	0.054376	0.999996	0.81001	D	1.79	0.46772	L	1.01	0.41058	T	-1.6	0.38540	N	0.522	0.56317	-1.0880	0.05873	T	0.036	0.15334	T	10	0.00784722	0.00178	T	.	.	.	0.045	0.12272	.	.	0.452650218784	0.44890	0.3557649943223402	0.35490	0.377479978467	0.39179	0.426284730434	0.28700	T	0.406668	0.76250	T	-0.472347	0.00822	T	-0.437644	0.29072	T	0.0201326593684953	0.00714	T	0.913909	0.69637	D	0.09828568	0.23180	0.06538869	0.13246	0.09828568	0.23179	0.06538869	0.13245	-5.318	0.44548	T	.	.	0.102	0.29588	B	.;.;.	.;.;.	4.243111	0.64342	24.7	0.98449192221071924	0.41598	0.80714	0.40281	D	AEFGBCI	0.689714	0.65028	D	-0.111454323652253	0.36894	2.13878	0.0367786518032509	0.41437	2.489425	0.999995903949419	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.597571	0.31856	0	0.711	0.71501	0	.	.	5.73	4.86	0.62624	2.438000	0.44495	5.916000	0.51093	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1443:0.0:0.7082:0.1475	7.176	0.24921	578	0.69858	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3410.24	35	chr5	39383073	.	G	A	3410.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.14;DP=444;ExcessHet=0.3476;FS=0.895;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:84,68:152:99:1685,0,1947	5	0	2	0
chr5	62352635	62352635	T	C	exonic	KIF2A	.	nonsynonymous SNV	KIF2A:NM_001098511:exon5:c.T382C:p.S128P,KIF2A:NM_001243953:exon5:c.T382C:p.S128P,KIF2A:NM_004520:exon5:c.T382C:p.S128P,KIF2A:NM_001243952:exon6:c.T301C:p.S101P	Cortical dysplasia, complex, with other brain malformations 3, Autosomal dominant	434	1082	6	0	0	6	0.00276498	.	.	.	514284	KIF2A-related_disorder|Inborn_genetic_diseases|not_provided|Complex_cortical_dysplasia_with_other_brain_malformations_3	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014170,MedGen:C3809414,OMIM:615411	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.196	0.0437086262933	0.0011	0.000998403	0.0015	0	0.0010	0	0	0.0022	0	0.0019	0.0007827	121	154602	rs138408434	0.0005	0.0005	0.0005	0.0006	0.0012	0.0005	0.0005	0.0010	0.0010	0	0.0006	0.0163	0	0	0.0003	0.0001	0.0016	0.0012	0.0007	0.0007	0.0007	0.0006	0.0015	0.0006	0.0005	0.0007	0.0005	2.407e-05	0	0.0009	0.0193	0	0	0	0.0002	0.0014	0.0015	0.322	0.17761	T	0.239	0.24913	T	0.0	0.02946	B	0.0	0.06944	B	0.002132	0.37183	N	0.327832	0.999286	0.46548	D	1.5	0.37844	L	-0.7	0.74477	T	-0.88	0.24460	N	0.327	0.38232	-0.7395	0.58478	T	0.197	0.55229	T	10	0.005432427	0.00120	T	0.043709	0.61120	D	0.196	0.47777	.	.	0.68396243137	0.68126	0.3770783692770645	0.37622	1.17466397314	0.79850	0.641527295113	0.58782	T	0.050762	0.28686	T	-0.309954	0.07752	T	-0.263555	0.48469	T	0.00603744325481615	0.00066	T	0.814719	0.46890	T	0.16261107	0.36349	0.12025484	0.29021	0.24766418	0.47747	0.13770947	0.32907	-3.639	0.20029	T	.	.	0.070	0.06803	B	.;.;.;.;.	.;.;.;.;.	2.859634	0.37778	20.6	0.89040319762152076	0.18461	0.94048	0.59956	D	AEFDBI	0.385087	0.46596	N	-0.448037651859291	0.23806	1.281076	-0.308507265791772	0.27823	1.546644	0.999511692613871	0.40117	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	3.92	0.44525	1.395000	0.34129	4.166000	0.42242	0.609000	0.47794	0.992000	0.37556	1.000000	0.68203	0.967000	0.53440	0.0:0.0:0.2941:0.7059	10.774	0.45538	872	0.31118	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.009146	0.003788	0.07143	1020.44	36	chr5	62352635	.	T	C	1020.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.752;DP=276;ExcessHet=0;FS=2.791;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.105;SOR=0.44	GT:AD:DP:GQ:PL	0/1:52,41:93:99:1031,0,1350	6	0	1	0
chr5	69285386	69285386	A	C	exonic	CCDC125	.	nonsynonymous SNV	CCDC125:NM_001297696:exon10:c.T1003G:p.W335G,CCDC125:NM_176816:exon11:c.T1181G:p.M394R,CCDC125:NM_001297697:exon12:c.T806G:p.M269R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00837850598723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44694	D	0.086	0.40909	T	0.042	0.21471	B	0.037	0.23121	B	0.735368	0.06395	N	1.134910	1	0.08975	N	0.55	0.14455	N	0.96	0.42888	T	-2.19	0.49352	N	0.27	0.30574	-0.9676	0.37693	T	0.074	0.29960	T	10	0.116060674	0.21883	T	0.008379	0.22181	T	0.029	0.06676	0.247	0.18293	0.0806252709748	0.07271	0.07320556604281035	0.07257	0.107925270574	0.12170	0.279358863831	0.07403	T	0.004	0.02909	T	-0.234666	0.16035	T	-0.574858	0.15007	T	0.0506864632540838	0.05619	T	.	.	.	0.21397614	0.43790	0.20752293	0.45015	0.21397614	0.43790	0.20752293	0.45014	-4.489	0.30744	T	.	.	0.073	0.08272	B	.;.;.	.;.;.	1.636982	0.20893	14.96	0.28314690427425204	0.01448	0.11488	0.16667	N	AEFDBI	0.082468	0.16699	N	-0.829014520006057	0.12572	0.6136689	-0.957932031541211	0.10740	0.542829	0.991027550195682	0.32347	0.706548	0.73137	0	0.724815	0.89359	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	5.88	-2.6	0.05830	1.236000	0.32286	0.047000	0.13948	-0.595000	0.04637	0.001000	0.13787	0.000000	0.08366	0.074000	0.16894	0.5325:0.0:0.2017:0.2657	4.697	0.12192	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	957.44	33	chr5	69285386	.	A	C	957.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=305;ExcessHet=0;FS=1.53;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=2.34;SOR=0.523	GT:AD:DP:GQ:PL	0/1:73,44:117:99:968,0,1705	6	0	1	0
chr5	69414057	69414057	G	A	exonic	RAD17	.	nonsynonymous SNV	RAD17:NM_133339:exon16:c.G1811A:p.R604K,RAD17:NM_133340:exon16:c.G1283A:p.R428K,RAD17:NM_133341:exon16:c.G1520A:p.R507K,RAD17:NM_002873:exon17:c.G1778A:p.R593K,RAD17:NM_133344:exon17:c.G1778A:p.R593K,RAD17:NM_001278622:exon18:c.G1778A:p.R593K,RAD17:NM_133342:exon18:c.G1778A:p.R593K,RAD17:NM_133343:exon18:c.G1778A:p.R593K,RAD17:NM_133338:exon19:c.G1778A:p.R593K	.	430	978	106	8	0	122	0.0587103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0072	0.00858626	0.0118	0.0017	0.0041	0.0002	0.0050	0.0086	0.0177	0.0452	0.0109507	1693	154602	rs35440980	0.0098	0.0098	0.0085	0.0111	0.0460	0.0097	0.0096	0.0448	0.0443	0.0012	0.0036	0.0166	5.038e-05	0.0041	0.0303	0.0079	0.0098	0.0460	0.0067	0.0067	0.0058	0.0076	0.0414	0.0063	0.0062	0.0367	0.0349	0.0012	0	0.0067	0.0147	0.0002	0.0042	0.0204	0.0081	0.0047	0.0414	0.986	0.02332	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000189	0.48115	D	0.259771	0.994634	0.23476	N	1.535	0.38868	L	2.49	0.19450	T	0.54	0.02945	N	0.032	0.04426	-0.9900	0.32601	T	0.017	0.06855	T	10	0.00218606	0.00032	T	.	.	.	0.066	0.19193	.	.	.	.	0.3029777273072425	0.30210	0.0550484155351	0.06097	0.372454166412	0.21183	T	0.049787	0.28408	T	-0.595955	0.00154	T	-0.595243	0.13214	T	0.0194319635730626	0.00647	T	0.624837	0.24114	T	0.046678767	0.07854	0.035762925	0.02890	0.046678767	0.07854	0.035762925	0.02889	-3.364	0.14669	T	.	.	0.072	0.10883	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.187245	0.27882	17.61	0.75957224569446813	0.11277	0.64842	0.32539	D	AEFDGBI	0.328249	0.42897	N	-0.413733362045308	0.24988	1.353151	-0.239332704839906	0.30141	1.694516	0.99969678773718	0.41870	0.719381	0.83141	0	0.723133	0.82719	0	0.786243	0.99158	0	0.733575	0.97253	0	.	.	5.35	2.09	0.26154	4.382000	0.59360	7.481000	0.59259	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.932000	0.46971	0.3362:0.2222:0.4416:0.0	3.033	0.05744	976	0.04745	.;.;.;.;.;.;.;.;.;.;.	CCDC125|RP11-1415C14.3|CCDC125|CCDC125	Artery_Aorta|Brain_Cortex|Skin_Sun_Exposed_Lower_leg|Thyroid	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.032762	0.020408	0.014946	0.040936	0.000000	0.025862	0.036585	0.068182	0.07143	1254.53	39	chr5	69414057	.	G	A	1254.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=293;ExcessHet=0;FS=0.776;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.212;SOR=0.543	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1265,0,1155	6	0	1	0
chr5	81440630	81440630	T	C	exonic	SSBP2	.	nonsynonymous SNV	SSBP2:NM_001256733:exon13:c.A796G:p.M266V,SSBP2:NM_001256734:exon13:c.A790G:p.M264V,SSBP2:NM_001256735:exon13:c.A766G:p.M256V,SSBP2:NM_001256736:exon13:c.A766G:p.M256V,SSBP2:NM_001256732:exon14:c.A880G:p.M294V,SSBP2:NM_001345886:exon14:c.A880G:p.M294V,SSBP2:NM_012446:exon14:c.A856G:p.M286V	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00716978810402	0.0015	0.000998403	0.0018	0.0005	0.0009	0	0.0008	0.0029	0.0022	0.0003	0.0017852	276	154602	rs139911197	0.0022	0.0022	0.0022	0.0022	0.0039	0.0021	0.0021	0.0026	0.0023	0.0002	0.0009	0.0088	0	0.0008	0.0039	0.0024	0.0027	0.0004	0.0018	0.0018	0.0018	0.0017	0.0028	0.0016	0.0015	0.0025	0.0024	0.0005	0	0.0014	0.0063	0	0.0007	0	0.0028	0.0028	0.0004	0.003	0.72154	D	0.694	0.24264	T	0.038	0.21002	B	0.374	0.43683	B	0.000000	0.84330	D	0.038157	0.999964	0.52935	D	2.215	0.62545	M	.	.	.	-2.84	0.60507	D	0.377	0.53796	-0.5432	0.67043	T	0.348	0.71281	T	9	0.010237962	0.00229	T	0.00717	0.19006	T	0.190	0.46781	.	.	0.342376198884	0.33841	0.7583331352599543	0.75781	1.09336094306	0.77502	0.630092024803	0.57158	T	0.318034	0.68944	T	-0.0837178	0.39107	T	0.102042	0.77043	D	0.040646097906275	0.03807	T	0.910909	0.68443	D	0.52929866	0.68791	0.6070777	0.77154	0.52929866	0.68792	0.6070777	0.77155	-6.718	0.57596	T	.	.	0.079	0.13876	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.566463	0.50211	22.9	0.96143264158919151	0.28841	0.97791	0.77159	D	AEFI	0.530644	0.55125	D	0.043948066053869	0.43863	2.671156	0.195078645347304	0.49578	3.159186	0.991818269872245	0.32618	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.64	5.64	0.86480	3.501000	0.53085	6.174000	0.54533	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.509	0.75502	725	0.54935	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.011696	0.000000	0.017241	0.000000	0.000000	0.1429	1269.65	27	chr5	81440630	.	T	C	1269.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.709;DP=232;ExcessHet=0.3476;FS=2.511;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=3.01;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:32,34:66:99:.:.:719,0,726:.	5	0	2	0
chr5	83520540	83520540	A	C	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164098:exon7:c.A2234C:p.K745T,VCAN:NM_004385:exon7:c.A2234C:p.K745T	Wagner syndrome 1, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	252025	Vitreoretinopathy|not_provided|Wagner_syndrome|not_specified	Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290|MedGen:C3661900|Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.009711912907	0.0002	0.000399361	0.0002	0	0.0005	0	0	0.0003	0.0011	0.0001	0.000207	32	154602	rs144502710	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0002	0	0.0004	0.0002	0	0	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0001	0.0006	0	0	0	0.0003	0.0009	0	0.001	0.78490	D	0.084	0.41239	T	0.958	0.54977	D	0.343	0.49014	B	0.291814	0.03899	N	1.504830	1	0.08975	N	1.65	0.42232	L	2.02	0.21119	T	-1.43	0.35194	N	0.142	0.14905	-1.0681	0.09836	T	0.071	0.29066	T	10	0.024023116	0.00647	T	0.009712	0.25359	T	0.041	0.10877	.	.	0.218628672733	0.21463	0.141843596687934	0.14107	0.0954370582371	0.10785	0.267049998045	0.05760	T	0.222908	0.58690	T	-0.442383	0.01252	T	-0.526057	0.19683	T	0.0284169741236152	0.01748	T	0.618838	0.23746	T	0.12998465	0.30342	0.11220899	0.27073	0.126821	0.29694	0.13178791	0.31638	-2.04	0.03892	T	.	.	0.091	0.22208	B	.;.;.	.;.;.	0.059151	0.04704	1.343	0.99168368057060963	0.54298	0.17401	0.19821	N	AEFGBI	0.075706	0.15211	N	-0.408972455259013	0.25155	1.363375	-0.58160850639922	0.19973	1.074011	0.998726455763077	0.37539	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	4.89	2.45	0.28953	0.025000	0.13469	0.751000	0.21237	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.213000	0.22268	0.7119:0.1896:0.0985:0.0	4.856	0.12922	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	983.44	41	chr5	83520540	.	A	C	983.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.045;DP=267;ExcessHet=0;FS=0.857;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.786;SOR=0.831	GT:AD:DP:GQ:PL	0/1:41,37:78:99:994,0,1133	6	0	1	0
chr5	102438625	102438625	G	A	exonic	SLCO6A1	.	nonsynonymous SNV	SLCO6A1:NM_001289004:exon6:c.C1082T:p.T361I,SLCO6A1:NM_001289002:exon7:c.C1268T:p.T423I,SLCO6A1:NM_173488:exon7:c.C1268T:p.T423I	.	448	1070	4	0	0	4	0.00186567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.0025628377266	0.0005	.	0.0005	0	0	0	0	0.0007	0	0.0007	0.000401	62	154602	rs146187374	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0033	0.0028	0	0.0001	0.0080	0	1.885e-05	0.0047	7.422e-05	0.0008	0.0008	0.0003	0.0003	0.0002	0.0004	0.0006	0.0002	0.0002	0.0002	9e-05	0	0	6.541e-05	0.0078	0	0	0	0.0002	0	0.0006	0.681	0.05091	T	0.656	0.06762	T	0.001	0.07471	B	0.002	0.10090	B	0.289019	0.03882	N	1.484200	1	0.08975	N	0.94	0.23649	L	1.21	0.37230	T	-1.97	0.45587	N	0.1	0.10198	-1.0396	0.17434	T	0.053	0.22384	T	10	0.024332643	0.00665	T	0.002563	0.05150	T	0.024	0.04979	.	.	0.0138822411134	0.00435	0.06636984487177555	0.06574	0.11852074789	0.13345	0.248655468225	0.03627	T	0.090519	0.38602	T	-0.598094	0.00150	T	-0.729305	0.04358	T	0.0107708583892262	0.00152	T	0.364364	0.08448	T	0.029355276	0.02416	0.045680266	0.06200	0.029355276	0.02416	0.045680266	0.06200	-4.467	0.30454	T	.	.	0.100	0.23113	B	.;.;.	.;.;.	-0.919159	0.00894	0.033	0.30022965530955814	0.01621	0.00921	0.03583	N	AEFI	0.033983	0.04131	N	-1.82502132404932	0.00487	0.02095049	-1.8938913985835	0.00503	0.02230285	2.83178006579937E-4	0.06355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.52	-5.42	0.02434	-0.137000	0.10369	-0.296000	0.10153	-0.672000	0.04293	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5829:0.0:0.3086:0.1085	7.988	0.29385	240	0.90628	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001040	0.000000	0.001366	0.002994	0.000000	0.000000	0.000000	0.000000	0.07143	709.83	30	chr5	102438625	.	G	A	709.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.537;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=1.02;SOR=0.646	GT:AD:DP:GQ:PL	0/1:35,34:69:99:720,0,774	6	0	1	0
chr5	126554286	126554286	C	A	splicing	ALDH7A1	NM_001182:exon13:c.1200+1G>T;NM_001201377:exon13:c.1116+1G>T	.	.	Epilepsy, pyridoxine-dependent, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.936	YES	454169	Pyridoxine-dependent_epilepsy|not_provided	MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217642695	2.738e-06	2.736e-06	2.724e-06	2.752e-06	3.599e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.926591	0.94084	33	0.99545244406190447	0.70773	0.99797	0.99532	D	AEFBI	.	.	.	1.13035590222599	0.98658	18.93974	0.963360650264605	0.97785	16.76022	0.999999962541062	0.74766	0.156188	0.03335	0	0.060609	0.00678	0	0.231514	0.04749	0	0.221052	0.04502	0	0.973415	0.75867	5.13	5.13	0.69729	5.541000	0.66921	4.873000	0.45587	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.605000	0.31514	0.0:1.0:0.0:0.0	18.532	0.90947	698	0.58074	.;.;.;.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	995.53	33	chr5	126554286	.	C	A	995.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.627;DP=271;ExcessHet=0;FS=0.767;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.719;SOR=0.551	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1006,0,1268	6	0	1	0
chr5	131428991	131428991	G	C	exonic	RAPGEF6	.	nonsynonymous SNV	RAPGEF6:NM_016340:exon27:c.C4691G:p.S1564W,RAPGEF6:NM_001164386:exon28:c.C4715G:p.S1572W	.	.	.	.	.	.	.	.	.	.	.	4061218	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.0118635085181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.42e-06	3.42e-06	2.722e-06	4.125e-06	2.319e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	8.993e-07	3.312e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.099	0.41742	T	0.993	0.65571	D	0.909	0.64565	D	0.027729	0.25711	N	0.374141	0.690154	0.81001	N	1.5	0.37844	L	1.75	0.26152	T	-1.26	0.31778	N	0.411	0.49146	-1.0461	0.15505	T	0.106	0.38611	T	10	0.2099869	0.37379	T	0.011864	0.29900	T	0.092	0.26621	0.335	0.32329	0.226560886239	0.22246	0.3470025264064406	0.34614	0.229004933151	0.25460	0.416171193123	0.27310	T	0.174892	0.52428	T	-0.0813778	0.39489	T	-0.35467	0.38670	T	0.792184472084045	0.45833	D	0.920308	0.71149	D	0.07682009	0.17398	0.09135839	0.21473	0.07682009	0.17398	0.09135839	0.21473	-7.489	0.57533	T	.	.	0.187	0.40522	B	.;.;.	.;.;.	3.397829	0.47076	22.4	0.98760496895471861	0.45800	0.85587	0.44735	D	AEFBI	0.371557	0.45753	N	0.372323041939568	0.59927	4.176428	0.318397362252932	0.56620	3.825676	0.917464509793381	0.26543	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.92	4.04	0.46262	2.061000	0.41030	4.445000	0.43400	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.882000	0.42233	0.0:0.1398:0.5777:0.2826	9.267	0.36806	392	0.83172	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1550.49	34	chr5	131428991	.	G	C	1550.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=1.89;SOR=0.698	GT:AD:DP:GQ:PL	0/1:51,60:111:99:1561,0,1106	6	0	1	0
chr5	133975920	133975920	C	A	exonic	VDAC1	.	nonsynonymous SNV	VDAC1:NM_003374:exon7:c.G653T:p.R218L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.0289082544387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.207	0.26969	T	0.043	0.21573	B	0.038	0.23361	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.76	0.45711	L	0.97	0.42502	T	-4.35	0.76900	D	0.892	0.89131	-1.0227	0.22834	T	0.113	0.40261	T	10	0.79060733	0.78627	D	0.028908	0.51509	D	0.326	0.64826	0.496	0.58520	0.364535869594	0.36064	0.6840805161537953	0.68347	0.831011690156	0.67623	0.868237018585	0.92315	D	0.404379	0.76086	T	0.226412	0.76381	D	0.0874486	0.76075	D	0.984549641609192	0.75818	D	0.926807	0.73035	D	0.69558173	0.77815	0.4600653	0.68638	0.69558173	0.77817	0.4600653	0.68638	-13.604	0.91698	D	.	.	0.642	0.70791	P	.;.;.	.;.;.	5.120361	0.85639	28.7	0.99739228976731942	0.83337	0.99206	0.92796	D	AEFBI	0.932266	0.92236	D	0.165867202573607	0.49564	3.155521	0.351327465103985	0.58589	4.030189	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	7.869000	0.85513	4.897000	0.45822	0.534000	0.24903	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:1.0:0.0:0.0	19.510	0.95129	187	0.92701	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1064.49	33	chr5	133975920	.	C	A	1064.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.079;DP=284;ExcessHet=0;FS=2.972;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.676;SOR=0.416	GT:AD:DP:GQ:PL	0/1:51,46:97:99:1075,0,1171	6	0	1	0
chr5	136046401	136046401	C	T	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon4:c.C365T:p.T122M	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	0	1519	2	1	0	4	0.00131492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.268103499344	.	.	8.306e-05	0	0	0	0	4.509e-05	0	0.0004	6.47e-05	10	154602	rs780759366	7.047e-05	7.046e-05	5.037e-05	9.077e-05	0.0006	5.914e-05	5.523e-05	0.0005	0.0004	0	2.237e-05	3.826e-05	2.519e-05	0	0	4.137e-05	3.313e-05	0.0006	3.284e-05	3.281e-05	0	6.715e-05	0.0002	1.26e-05	7.98e-06	4.88e-06	1.83e-06	0	0	6.534e-05	0	0.0002	0	0	2.94e-05	0	0.0002	0.002	0.72154	D	0.002	0.79402	D	0.996	0.68779	D	0.89	0.63157	P	0.000000	0.84330	D	0.093602	0.999994	0.58761	D	-0.75	0.01730	N	-2.83	0.91249	D	-1.5	0.36586	N	0.332	0.37301	0.563	0.91410	D	0.655	0.88008	D	10	0.4495327	0.58610	T	0.268103	0.89772	D	0.607	0.84559	0.583	0.70990	0.968273446954	0.96793	0.6937519274284111	0.69315	0.299618368744	0.32332	0.60230755806	0.53231	T	0.284186	0.65696	T	-0.108353	0.35039	T	-0.0571592	0.66530	T	0.288304697942419	0.24518	T	0.940606	0.77652	D	0.57409036	0.71284	0.38569042	0.63480	0.57409036	0.71285	0.38569042	0.63480	-5.647	0.43219	T	0.17750299825932392	0.22703	0.109	0.20896	B	.	.	5.218687	0.87585	29.3	0.99929061621824544	0.99279	0.96466	0.69278	D	AEFDBHCI	0.972833	0.99453	D	0.55986406387807	0.70684	5.53795	0.657636946205884	0.79180	7.028348	1.0	0.98316	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	7.905000	0.86479	7.657000	0.64017	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.122	0.97964	775	0.48401	FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1828.46	34	chr5	136046401	.	C	T	1828.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.014;DP=316;ExcessHet=0;FS=1.338;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.708;SOR=0.584	GT:AD:DP:GQ:PL	0/1:59,80:139:99:1839,0,1205	6	0	1	0
chr5	138181443	138181443	G	A	exonic	KIF20A	.	nonsynonymous SNV	KIF20A:NM_005733:exon3:c.G187A:p.E63K	.	435	1081	6	0	0	6	0.00276753	.	.	.	721229	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0003	0.00798722	0.0081	0.0003	0.0352	0.0307	0.0237	0.0019	0.0143	0.0005	0.0070504	1090	154602	rs3734116	0.0027	0.0027	0.0029	0.0026	0.0284	0.0027	0.0026	0.0271	0.0266	0.0002	0.0284	3.826e-05	0.0204	0.0243	0.0005	0.0003	0.0030	0.0008	0.0045	0.0045	0.0033	0.0058	0.0274	0.0042	0.0041	0.0237	0.0223	0.0002	0	0.0112	0	0.0274	0.0268	0	0.0009	0.0061	0.0006	0.039	0.42487	D	0.198	0.29249	T	0.682	0.41464	P	0.202	0.36942	B	0.008271	0.30928	N	0.149503	0.999759	0.54805	D	1.65	0.42232	L	2.23	0.70365	T	-2.41	0.52938	N	0.249	0.33360	-0.7120	0.59854	T	0.125	0.43028	T	10	0.006201625	0.00140	T	.	.	.	0.107	0.30369	.	.	0.765344188043	0.76320	0.5378201080403755	0.53707	1.70071209603	0.90279	0.422218024731	0.28142	T	0.068381	0.33443	T	-0.317222	0.07128	T	-0.201284	0.54525	T	0.0313485906176549	0.02202	T	0.89801	0.64352	D	0.18532784	0.39890	0.17170508	0.39372	0.18532784	0.39890	0.17170508	0.39371	-9.11	0.68401	D	.	.	0.291	0.52219	B	.;.;.;.	.;.;.;.	3.728383	0.53317	23.3	0.99841561043542626	0.92229	0.99501	0.96794	D	AEFBI	0.870076	0.79089	D	0.251892416619992	0.53731	3.540876	0.386440201124813	0.60728	4.263735	0.999999999999994	0.74766	0.722319	0.85440	0	0.587265	0.34161	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.44	5.44	0.79348	6.116000	0.71264	9.939000	0.82641	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	19.270	0.93993	172	0.93355	.;Kinesin motor domain;.;Kinesin motor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1429	1968.29	34	chr5	138181443	.	G	A	1968.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.14;DP=305;ExcessHet=0.3476;FS=4.82;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.543;SOR=1.083	GT:AD:DP:GQ:PL	0/1:31,43:74:99:1220,0,664	5	0	2	0
chr5	139319502	139319502	-	CTTT	splicing	MATR3	NM_001282278:exon11:c.588+1->CTTT;NM_001194954:exon11:c.1602+1->CTTT;NM_199189:exon12:c.1602+1->CTTT;NM_018834:exon9:c.1602+1->CTTT;NM_001194956:exon8:c.738+1->CTTT;NM_001194955:exon9:c.1602+1->CTTT	.	.	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.442e-05	0.0006	9.571e-06	1.932e-05	2.323e-05	9.27e-06	7.87e-06	8.13e-06	6.45e-06	0	0	7.726e-05	0	0	0	1.354e-05	3.328e-05	2.323e-05	6.579e-06	5.911e-05	1.286e-05	0	6.553e-05	0	0	.	.	0	0	6.553e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	38.43	12	chr5	139319502	.	G	GCTTT	38.43	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.04;DP=115;ExcessHet=0;FS=8.817;MLEAC=1;MLEAF=0.083;MQ=59.28;MQRankSum=0;QD=1.33;ReadPosRankSum=-1.328;SOR=2.91	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,3:29:48:.:.:48,0,1083:.	5	0	1	1
chr5	140823355	140823355	T	C	exonic	PCDHA5	.	nonsynonymous SNV	PCDHA5:NM_018908:exon1:c.T1580C:p.V527A,PCDHA5:NM_031501:exon1:c.T1580C:p.V527A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0239271250674	.	.	.	.	.	.	.	.	.	.	.	.	.	rs951193537	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.659e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.028	0.23930	B	0.016	0.24394	B	.	.	.	.	1	0.81001	D	0.755	0.19153	N	0.72	0.50976	T	-2.03	0.46673	N	0.06	0.09490	-0.9615	0.38897	T	0.105	0.38390	T	9	0.10566044	0.19541	T	0.023927	0.46909	T	0.114	0.32008	0.486	0.56939	0.579236789951	0.57594	0.4495510684078065	0.44873	0.403073445309	0.41255	.	.	.	0.01021	0.09237	T	-0.202503	0.20443	T	-0.528658	0.19421	T	0.225051117730841	0.21713	T	0.225177	0.02943	T	0.28469548	0.51495	0.42910224	0.66603	0.28469548	0.51495	0.42910224	0.66603	-7.594	0.58785	D	.	.	0.159	0.38764	B	.;.;.	.;.;.	2.803451	0.36886	20.4	0.96905333639864899	0.31554	0.48542	0.28231	N	AEFDBI	0.265387	0.38253	N	-0.554792138457409	0.20333	1.071142	-0.50307683271821	0.22070	1.196899	0.0697484896517192	0.15500	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.86	3.86	0.43689	1.006000	0.29449	.	.	0.605000	0.46263	0.001000	0.13787	0.014000	0.20376	0.185000	0.21450	0.0:0.0:0.0:1.0	13.004	0.58097	28	0.98252	.;.;Cadherin-like|Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	6643.24	43	chr5	140823355	.	T	C	6643.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.597;DP=833;ExcessHet=0.3476;FS=0.523;MLEAC=2;MLEAF=0.143;MQ=59.92;MQRankSum=0.341;QD=11.8;ReadPosRankSum=-0.048;SOR=0.642	GT:AD:DP:GQ:PL	0/1:160,144:304:99:3256,0,3763	5	0	2	0
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4033.26	85	chr5	141303081	.	A	G	4033.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.252;DP=994;ExcessHet=11.5949;FS=239.513;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.32;ReadPosRankSum=1.4;SOR=9.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:138,62:200:99:.:.:800,0,2766:.	0	0	6	1
chr5	141376362	141376362	C	G	exonic	PCDHGA6	.	nonsynonymous SNV	PCDHGA6:NM_018919:exon1:c.C2279G:p.T760S,PCDHGA6:NM_032086:exon1:c.C2279G:p.T760S	.	8	1500	14	0	0	14	0.00464499	.	.	.	3185230	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.190	0.0100081266458	0.0042	0.00199681	0.0039	0.0013	0.0026	0	0.0020	0.0055	0.0011	0.0031	0.0040879	632	154602	rs186469397	0.0053	0.0053	0.0054	0.0051	0.0061	0.0052	0.0051	0.0060	0.0060	0.0009	0.0018	0.0034	0	0.0018	0.0042	0.0061	0.0048	0.0030	0.0033	0.0033	0.0032	0.0034	0.0053	0.0031	0.0030	0.0049	0.0047	0.0014	0.0033	0.0016	0.0020	0	0.0022	0	0.0053	0.0028	0.0035	0.153	0.24372	T	0.228	0.25286	T	0.998	0.77913	D	0.96	0.75477	D	0.006985	0.31670	U	0.000000	1	0.81001	D	2.24	0.63355	M	0.75	0.50192	T	-3.74	0.71042	D	0.237	0.26717	-0.7674	0.57000	T	0.209	0.56893	T	10	0.006436944	0.00146	T	0.010008	0.26035	T	0.190	0.46781	0.469	0.54214	0.810730532197	0.80895	0.35823071181403	0.35737	0.460522582035	0.45608	.	.	.	0.085015	0.37407	T	-0.393056	0.02570	T	-0.330693	0.41393	T	0.0348216406331886	0.02778	T	0.80432	0.45191	T	0.22635399	0.45315	0.2510904	0.50714	0.22635399	0.45315	0.2510904	0.50713	-7.438	0.58422	T	.	.	0.192	0.50600	B	.;.	.;.	3.555406	0.49998	22.9	0.99105376653438526	0.52572	0.93115	0.57366	D	AEFDBI	0.294622	0.40494	N	0.387904750710311	0.60767	4.269209	0.297621711326072	0.55399	3.703103	0.994884489907657	0.33846	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.616125	0.45549	0	.	.	5.15	4.27	0.50009	4.718000	0.61621	.	.	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.194000	0.21720	0.0:0.8639:0.136:0.0	15.861	0.78797	651	0.62880	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.07143	2937.44	45	chr5	141376362	.	C	G	2937.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.35;DP=458;ExcessHet=0;FS=1.488;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.389;SOR=0.6	GT:AD:DP:GQ:PL	0/1:138,121:259:99:2948,0,3283	6	0	1	0
chr5	141395182	141395182	C	T	exonic	PCDHGA8	.	nonsynonymous SNV	PCDHGA8:NM_014004:exon1:c.C2369T:p.S790F,PCDHGA8:NM_032088:exon1:c.C2369T:p.S790F	.	191	1319	12	0	0	12	0.0045283	.	.	.	3575415	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.140	0.00890473528546	.	0.000199681	0.0001	0	0	0	0	9.011e-05	0.0011	0.0007	0.0001423	22	154602	rs143509166	8.756e-05	8.756e-05	8.712e-05	8.801e-05	0.0017	7.488e-05	7.035e-05	0.0009	0.0007	5.974e-05	0	0	0	1.872e-05	0.0017	5.036e-05	0.0003	0.0005	8.535e-05	8.53e-05	6.424e-05	0.0001	0.0002	4.953e-05	3.96e-05	9.048e-05	7.012e-05	0	0	0	0	0	9.429e-05	0.0034	0.0002	0	0	0.234	0.18061	T	0.133	0.35082	T	0.0	0.02946	B	0.005	0.11217	B	.	.	.	.	1	0.81001	D	0.48	0.13178	N	0.81	0.48460	T	-2.05	0.47008	N	0.142	0.36043	-1.0392	0.17556	T	0.072	0.29259	T	9	0.028700948	0.01000	T	0.008905	0.23463	T	0.140	0.37593	.	.	0.495172024023	0.49151	0.11320334284700659	0.11248	.	.	.	.	.	0.035685	0.23816	T	-0.426339	0.01560	T	-0.500751	0.22271	T	0.0482627972960472	0.05191	T	0.255674	0.03967	T	0.10975513	0.25946	0.14769743	0.34942	0.10975513	0.25946	0.14769743	0.34941	-6.306	0.48770	T	.	.	0.094	0.14523	B	.;.	.;.	2.488805	0.32106	18.94	0.76062084114784401	0.11318	0.73992	0.36191	D	AEFBI	0.545006	0.55970	D	-0.717891172023897	0.15519	0.7828081	-0.670170512121005	0.17708	0.9427949	0.998262376644592	0.36664	0.549168	0.22868	0	0.547309	0.14657	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.5	3.63	0.40741	0.932000	0.28484	.	.	0.520000	0.23804	0.000000	0.06391	0.061000	0.22037	0.573000	0.30723	0.0:0.9107:0.0:0.0893	11.412	0.49173	804	0.43891	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.1429	4070.65	41	chr5	141395182	.	C	T	4070.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.325;DP=459;ExcessHet=0.3476;FS=0.445;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=2.34;SOR=0.645	GT:AD:DP:GQ:PL	0/1:66,82:148:99:2068,0,1657	5	0	2	0
chr5	141654342	141654342	G	C	exonic	ARAP3	.	nonsynonymous SNV	ARAP3:NM_022481:exon33:c.C4243G:p.P1415A	.	426	1095	1	0	0	1	0.000456413	.	.	.	3569694	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.00566935009581	.	.	7.42e-05	0	0	0	0	1.5e-05	0	0.0005	5.82e-05	9	154602	rs766692885	3.968e-05	3.967e-05	1.77e-05	6.188e-05	0.0006	3.113e-05	2.847e-05	0.0005	0.0004	0	0	0	2.519e-05	0	0	4.496e-06	3.312e-05	0.0006	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.156	0.24090	T	0.741	0.06406	T	0.03	0.20002	B	0.033	0.22329	B	0.000212	0.47681	D	0.149635	1	0.81001	D	2.14	0.59869	M	0.78	0.49358	T	-1.04	0.30762	N	0.137	0.22870	-1.0093	0.27136	T	0.075	0.30148	T	10	0.035955966	0.01869	T	0.005669	0.14681	T	0.022	0.04323	0.341	0.33302	0.431327455105	0.42751	0.15452852343415557	0.15373	0.445351969728	0.44427	0.406804680824	0.26015	T	0.024154	0.18966	T	-0.352599	0.04565	T	-0.408001	0.32457	T	0.0327906358619795	0.02437	T	0.89801	0.64352	D	0.21220663	0.43566	0.10300306	0.24702	0.21220663	0.43566	0.10300306	0.24702	-5.375	0.40678	T	.	.	0.075	0.36495	B	.;.;.;.	.;.;.;.	2.067169	0.26289	17.06	0.7917339799713764	0.12623	0.90105	0.51025	D	AEFDBIJ	0.220296	0.34507	N	-0.332123244877913	0.27935	1.536664	-0.16513329071323	0.32829	1.871704	0.99999991574726	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.87	4.0	0.45673	1.638000	0.36780	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0876:0.0:0.7443:0.1681	7.220	0.25155	772	0.48957	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1470.44	34	chr5	141654342	.	G	C	1470.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.302;DP=316;ExcessHet=0;FS=0.651;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.976;SOR=0.818	GT:AD:DP:GQ:PL	0/1:64,66:130:99:1481,0,1657	6	0	1	0
chr5	143134100	143134100	A	C	exonic	ARHGAP26	.	nonsynonymous SNV	ARHGAP26:NM_001135608:exon19:c.A1832C:p.E611A,ARHGAP26:NM_001349547:exon19:c.A1724C:p.E575A,ARHGAP26:NM_015071:exon19:c.A1832C:p.E611A	Leukemia, juvenile myelomonocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.00712873043642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.597	0.09329	T	0.462	0.39250	P	0.091	0.36237	B	0.586668	0.11090	N	0.833224	0.999899	0.50595	D	2.495	0.72670	M	3.14	0.08014	T	-0.98	0.35194	N	0.492	0.56231	-0.9129	0.46492	T	0.021	0.08686	T	10	0.25955918	0.43395	T	0.007129	0.18896	T	0.142	0.37995	0.35	0.34760	0.513653828353	0.51006	0.5307754389634289	0.53001	0.788677996729	0.65652	0.492697268724	0.37813	T	0.157	0.49941	T	-0.0192223	0.48965	T	-0.265388	0.48285	T	0.660321652889252	0.38910	D	0.89891	0.64583	D	0.0831255	0.19182	0.064379625	0.12895	0.0831255	0.19182	0.064379625	0.12895	-3.372	0.18539	T	.	.	0.114	0.29283	B	.;.;.;.	.;.;.;.	3.075789	0.41357	21.3	0.9970092086941007	0.80591	0.97653	0.76179	D	AEFGBCI	0.642935	0.61973	D	0.188733228651352	0.50658	3.253756	0.352884298075645	0.58680	4.040161	0.999999999720225	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.579976	0.35079	0	.	.	6.07	6.07	0.98675	6.007000	0.70391	11.211000	0.89399	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.669000	0.33223	1.0:0.0:0.0:0.0	15.611	0.76469	910	0.22284	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1168.53	35	chr5	143134100	.	A	C	1168.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.48;DP=298;ExcessHet=0;FS=1.497;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.747;SOR=0.52	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1179,0,1635	6	0	1	0
chr5	151529364	151529364	G	T	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon15:c.C9840A:p.D3280E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.647	0.0648678737629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.62929	D	0.000000	0.999907	0.50806	D	3.99	0.96693	H	-0.03	0.63077	T	-3.8	0.71762	D	0.842	0.83781	-0.0615	0.80961	T	0.456	0.78790	T	10	0.9736192	0.97045	D	0.064868	0.69409	D	0.647	0.86636	0.906	0.98027	0.790226333998	0.78828	0.8633507548854191	0.86299	0.549543402379	0.51853	0.658560335636	0.61203	T	0.379966	0.74260	T	0.263527	0.79854	D	0.140762	0.79594	D	0.999553382396698	0.97890	D	0.789321	0.42944	T	0.7767546	0.82455	0.7584443	0.85726	0.7767546	0.82456	0.7584443	0.85727	-8.488	0.64350	D	.	.	0.699	0.72914	P	.	.	3.732077	0.53391	23.4	0.99672321262496644	0.78652	0.83680	0.42782	D	AEFDGBCI	0.511696	0.54022	D	0.295548048950294	0.55922	3.756393	0.275344217360685	0.54103	3.576414	0.999987680498077	0.51787	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.58	3.81	0.43020	1.242000	0.32358	2.777000	0.34710	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2108:0.0:0.7892:0.0	10.372	0.43241	898	0.25240	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1479.49	34	chr5	151529364	.	G	T	1479.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.01;DP=309;ExcessHet=0;FS=2.642;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=-0.9;SOR=0.993	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1490,0,1390	6	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	612.82	72	chr5	154834880	.	G	C	612.82	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.109;DP=616;ExcessHet=6.1542;FS=233.663;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.15;SOR=10.163	GT:AD:DP:GQ:PL	0/1:84,34:118:99:151,0,1693	1	0	5	1
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	40550.0	325	chr5	157052557	.	C	*	40550.0	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0.603;DP=3008;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=15.24;ReadPosRankSum=-0.37;SOR=0.722	GT:AD:DP:GQ:PL	1/1:0,449:449:99:20009,1362,0	2	4	1	0
chr5	159323321	159323321	C	T	exonic	IL12B	.	nonsynonymous SNV	IL12B:NM_002187:exon3:c.G97A:p.V33I	Immunodeficiency 29, mycobacteriosis, Autosomal recessive	2	1451	68	1	0	70	0.0235532	.	.	.	455342	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12B_deficiency|not_provided	MONDO:MONDO:0013954,MedGen:C4013948,OMIM:614890,Orphanet:319558|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.142	.	0.0043	0.00379393	0.0065	0.0010	0.0037	0.0006	0.0116	0.0061	0.0123	0.0145	0.0061642	953	154602	rs3213096	0.0054	0.0054	0.0051	0.0057	0.0186	0.0053	0.0052	0.0157	0.0146	0.0011	0.0037	0.0090	0.0004	0.0083	0.0186	0.0048	0.0069	0.0136	0.0046	0.0047	0.0043	0.0050	0.0099	0.0044	0.0043	0.0077	0.0069	0.0009	0	0.0059	0.0069	0.0006	0.0119	0.0136	0.0052	0.0090	0.0099	0.149	0.24758	T	0.174	0.30045	T	0.002	0.09854	B	0.007	0.12992	B	0.000001	0.84330	D	0.054974	0.998676	0.45259	D	2.255	0.64187	M	1.94	0.22678	T	-0.4	0.13805	N	0.125	0.11769	-1.1033	0.03714	T	0.049	0.20750	T	10	0.0053630173	0.00118	T	.	.	.	0.142	0.37995	.	.	0.329020015101	0.32502	0.5261362391023952	0.52537	0.248504126225	0.27412	0.318446367979	0.13186	T	0.164173	0.50953	T	-0.552734	0.00281	T	-0.56105	0.16279	T	0.00634437416106121	0.00070	T	0.687731	0.29668	T	0.114354566	0.26997	0.07641048	0.16920	0.10463757	0.24737	0.08397647	0.19284	-4.602	0.32197	T	0.3324810881554746	0.43046	0.091	0.13174	B	.	.	1.512208	0.19427	14.26	0.95641778802667776	0.27441	0.51784	0.28977	D	AEFBI	0.092113	0.18652	N	-0.3214034749087	0.28335	1.562097	-0.235318330737127	0.30280	1.703564	0.999998887974361	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.02	5.16	0.70563	1.585000	0.36210	4.066000	0.41626	-0.193000	0.09282	0.909000	0.31653	0.999000	0.35428	0.759000	0.36109	0.0:0.9177:0.0:0.0823	11.460	0.49454	911	0.21964	Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022681	0.010101	0.021739	0.011696	0.000000	0.008621	0.039877	0.037879	0.07143	1390.45	33	chr5	159323321	.	C	T	1390.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.488;DP=272;ExcessHet=0;FS=2.648;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=-1.979;SOR=0.724	GT:AD:DP:GQ:PL	0/1:41,58:99:99:1401,0,914	6	0	1	0
chr5	168204594	168204594	G	A	exonic	TENM2	.	nonsynonymous SNV	TENM2:NM_001080428:exon16:c.G3101A:p.R1034Q,TENM2:NM_001368145:exon18:c.G3341A:p.R1114Q,TENM2:NM_001368146:exon18:c.G3314A:p.R1105Q,TENM2:NM_001122679:exon20:c.G3770A:p.R1257Q	.	434	1059	24	5	0	34	0.0157993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	.	0.0034	0.00499201	0.0054	0.0012	0.0035	0.0001	0.0014	0.0047	0.0045	0.0164	0.0051681	799	154602	rs141103827	0.0047	0.0047	0.0043	0.0050	0.0141	0.0046	0.0045	0.0135	0.0132	0.0007	0.0035	0.0075	5.038e-05	0.0027	0.0088	0.0043	0.0046	0.0141	0.0037	0.0037	0.0034	0.0039	0.0155	0.0034	0.0033	0.0127	0.0117	0.0012	0	0.0038	0.0037	0.0008	0.0010	0.0068	0.0049	0.0038	0.0155	0.004	0.65419	D	0.109	0.37449	T	0.785	0.52977	P	0.166	0.35067	B	0.000549	0.43413	D	0.229981	0.721562	0.33623	D	0.625	0.15840	N	-2.61	0.89953	D	0.04	0.08340	N	0.455	0.51226	0.113	0.84404	D	0.409	0.75796	T	10	0.009176135	0.00207	T	.	.	.	0.344	0.66582	.	.	0.196089822672	0.19227	0.5180754742475734	0.51730	0.587153137814	0.54305	0.475716888905	0.35468	T	0.028301	0.23509	T	-0.295638	0.09077	T	-0.185116	0.56046	T	0.0228504415089554	0.01006	T	0.978902	0.92647	D	0.217094	0.44184	0.1503216	0.35457	0.217094	0.44184	0.1503216	0.35456	-8.59	0.65023	D	.	.	0.094	0.14385	B	.;.;.	.;.;.	4.166781	0.62622	24.5	0.99942076222620435	0.99824	0.93268	0.57765	D	AEFBI	0.719395	0.67029	D	0.130579323262987	0.47893	3.008764	0.225342744865541	0.51258	3.309864	0.999211784447859	0.38775	0.487112	0.14033	0	0.59043	0.45803	0	0.49644	0.08281	0	0.564101	0.26826	0	.	.	4.9	4.01	0.45821	5.916000	0.69712	7.656000	0.63963	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1425:0.8575:0.0	15.095	0.71893	933	0.16026	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.008152	0.014620	0.000000	0.008621	0.015244	0.007576	0.07143	1588.44	38	chr5	168204594	.	G	A	1588.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.427;DP=326;ExcessHet=0;FS=1.357;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=-0.101;SOR=0.836	GT:AD:DP:GQ:PL	0/1:65,70:135:99:1599,0,1451	6	0	1	0
chr5	169598495	169598495	A	T	exonic	SPDL1	.	nonsynonymous SNV	SPDL1:NM_001329639:exon9:c.A1052T:p.E351V,SPDL1:NM_001329640:exon9:c.A1052T:p.E351V,SPDL1:NM_001329641:exon9:c.A1052T:p.E351V,SPDL1:NM_017785:exon9:c.A1052T:p.E351V,SPDL1:NM_001329642:exon10:c.A839T:p.E280V,SPDL1:NM_001329643:exon10:c.A839T:p.E280V	.	458	1026	36	2	0	40	0.0191205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	0.0052	0.00519169	0.0070	0.0016	0.0024	0	0.0009	0.0063	0.0143	0.0221	0.0066041	1021	154602	rs143453400	0.0074	0.0075	0.0069	0.0079	0.0223	0.0073	0.0073	0.0215	0.0211	0.0011	0.0027	0.0213	0.0001	0.0012	0.0123	0.0069	0.0078	0.0223	0.0054	0.0054	0.0056	0.0052	0.0263	0.0051	0.0050	0.0226	0.0212	0.0012	0	0.0033	0.0231	0.0002	0.0009	0.0102	0.0073	0.0047	0.0263	0.038	0.42783	D	0.049	0.48336	D	0.383	0.34425	B	0.151	0.34210	B	0.005567	0.32687	N	0.342683	0.653632	0.30511	N	1.24	0.30952	L	1.27	0.36146	T	-2.9	0.60827	D	0.574	0.59648	-0.8781	0.49911	T	0.113	0.40331	T	10	0.004106611	0.00081	T	.	.	.	0.069	0.20116	.	.	0.493964856914	0.49030	0.10170001217084026	0.10100	0.195775768481	0.21932	0.405035167933	0.25769	T	0.068886	0.33570	T	-0.487323	0.00672	T	-0.455863	0.27051	T	0.0214386891831938	0.00847	T	0.731327	0.34690	T	0.10228599	0.24167	0.10267653	0.24615	0.10732706	0.25379	0.10267653	0.24614	-4.592	0.32071	T	.	.	0.116	0.23219	B	.	.	4.513245	0.70700	25.6	0.99283097900901096	0.57973	0.92365	0.55543	D	AEFBI	0.293992	0.40448	N	0.150376278577631	0.48831	3.090472	0.22321824879197	0.51139	3.299027	0.99997338782583	0.50053	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	4.7	0.58776	3.010000	0.49246	5.961000	0.51824	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.7774:0.1482:0.0744:0.0	7.067	0.24336	930	0.16408	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.005051	0.010870	0.000000	0.000000	0.017241	0.009146	0.003788	0.07143	1175.45	33	chr5	169598495	.	A	T	1175.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.292;DP=266;ExcessHet=0;FS=1.811;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-1.805;SOR=0.946	GT:AD:DP:GQ:PL	0/1:35,50:85:99:1186,0,755	6	0	1	0
chr5	176584197	176584197	A	G	exonic	CDHR2	.	nonsynonymous SNV	CDHR2:NM_001171976:exon18:c.A2066G:p.N689S,CDHR2:NM_017675:exon18:c.A2066G:p.N689S	.	401	1114	7	0	0	7	0.00313199	.	.	.	2825584	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.728	0.65267260034	0.0064	0.00259585	0.0050	0.0017	0.0015	0.0001	0.0047	0.0073	0.0077	0.0027	0.0052263	808	154602	rs115353627	0.0073	0.0073	0.0074	0.0072	0.0083	0.0072	0.0071	0.0081	0.0081	0.0008	0.0023	0.0124	0	0.0058	0.0016	0.0083	0.0076	0.0030	0.0054	0.0054	0.0055	0.0053	0.0085	0.0051	0.0050	0.0079	0.0077	0.0013	0	0.0031	0.0176	0.0002	0.0055	0.0034	0.0085	0.0047	0.0035	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.987	0.77487	D	.	.	.	.	0.999999	0.58761	D	3.835	0.95663	H	-1.1	0.77336	T	-4.67	0.79571	D	0.77	0.76760	0.728	0.93517	D	0.709	0.90006	D	9	0.01767373	0.00379	T	0.652673	0.97064	D	0.728	0.90457	.	.	0.893520390444	0.89247	0.6041077260653706	0.60341	0.570378327537	0.53198	0.515768349171	0.41031	T	0.236927	0.60451	T	-0.235299	0.15955	T	-0.102806	0.63180	T	0.056728599685366	0.06644	T	0.862314	0.55722	D	0.47362316	0.65512	0.62378675	0.78075	0.47362316	0.65513	0.62378675	0.78076	-13.879	0.92657	D	.	.	0.329	0.55971	B	.;.;.	.;.;.	4.911248	0.80804	27.4	0.99869506075437298	0.94726	0.99278	0.93852	D	AEFBI	0.844926	0.76186	D	0.874277547051944	0.90444	10.40666	0.734198617634022	0.84971	8.443795	0.999735047433298	0.42341	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.69	5.69	0.88346	6.732000	0.74596	11.196000	0.88846	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.498000	0.28972	1.0:0.0:0.0:0.0	14.794	0.69490	373	0.84140	Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like;Cadherin conserved site|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1229.46	33	chr5	176584197	.	A	G	1229.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.19;DP=270;ExcessHet=0;FS=3.809;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=2.78;SOR=0.463	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1240,0,1093	6	0	1	0
chr5	177525022	177525022	G	A	exonic	FAM193B	.	nonsynonymous SNV	FAM193B:NM_001190946:exon6:c.C1459T:p.R487C,FAM193B:NM_001366500:exon7:c.C1360T:p.R454C,FAM193B:NM_001366499:exon8:c.C337T:p.R113C,FAM193B:NM_001366498:exon9:c.C337T:p.R113C	.	425	1092	5	0	0	5	0.00228415	.	.	.	2239818	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.043	0.0261079046621	0.0002	.	9.888e-05	0	0	0	0	0.0002	0	0	0.00011	17	154602	rs201707860	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0004	0.0002	0	0	0	5.218e-05	0	0.0009	0.0002	0.0002	0	9.198e-05	9.193e-05	7.708e-05	0.0001	0.0001	5.527e-05	4.364e-05	7.908e-05	5.993e-05	4.826e-05	0	0	0	0	0	0	0.0001	0.0010	0	0.169	0.22920	T	0.191	0.28391	T	.	.	.	.	.	.	0.000038	0.55875	N	0.160787	1	0.81001	D	.	.	.	0.21	0.59983	T	-5.06	0.82764	D	0.278	0.31478	-1.0653	0.10479	T	0.109	0.39462	T	10	0.10175288	0.18609	T	0.026108	0.49041	D	0.118	0.32913	.	.	0.082315109003	0.07666	0.1864460080566611	0.18562	0.241736050565	0.26693	0.258089184761	0.04666	T	.	.	.	-0.248302	0.14307	T	-0.320146	0.42559	T	0.191497173073472	0.19932	T	0.887111	0.61484	D	.	.	.	.	.	.	.	.	-9.131	0.68536	D	.	.	0.103	0.18580	B	.	.	3.532686	0.49572	22.8	0.97939397727725042	0.37021	0.92868	0.56743	D	AEFGBI	0.305497	0.41290	N	-0.331472290762997	0.27959	1.538199	-0.191885508468155	0.31834	1.805298	0.99768086202542	0.35903	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.75	1.89	0.24700	2.377000	0.43955	4.404000	0.43258	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2993:0.0:0.5658:0.1349	4.920	0.13216	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1381.45	36	chr5	177525022	.	G	A	1381.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.506;DP=323;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=0.225;SOR=0.638	GT:AD:DP:GQ:PL	0/1:65,59:124:99:1392,0,1607	6	0	1	0
chr6	7590287	7590289	GCG	-	exonic	SNRNP48	.	nonframeshift deletion	SNRNP48:NM_152551:exon1:c.30_32del:p.R13del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.593e-05	0.0002	0.0003	0.0002	0	3.008e-05	0	0	3.84e-05	1	26028	rs761244381	2.048e-05	0.0001	1.757e-05	2.354e-05	8.933e-05	1.405e-05	1.188e-05	2.982e-05	1.802e-05	0	4.766e-05	0	0	2.27e-05	0	1.626e-05	6.142e-05	8.933e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	67.42	35	chr6	7590286	.	AGCG	A	67.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.14;DP=225;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=0.249;SOR=0.473	GT:AD:DP:GQ:PL	0/1:30,4:34:78:78,0,1227	6	0	1	0
chr6	17637748	17637748	A	C	exonic	NUP153	.	nonsynonymous SNV	NUP153:NM_001278210:exon15:c.T1743G:p.D581E,NUP153:NM_005124:exon16:c.T1869G:p.D623E,NUP153:NM_001278209:exon17:c.T1962G:p.D654E	.	430	1081	11	0	0	11	0.00506213	.	.	.	699467	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.051	0.0065042790654	0.0045	0.00299521	0.0048	0.0011	0.0014	0	0.0047	0.0064	0.0045	0.0060	0.0048576	751	154602	rs61748574	0.0058	0.0057	0.0058	0.0058	0.0176	0.0057	0.0056	0.0148	0.0137	0.0009	0.0017	0.0008	0	0.0039	0.0176	0.0064	0.0056	0.0055	0.0040	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0010	0	0.0034	0.0014	0	0.0032	0.0340	0.0065	0.0028	0.0039	0.399	0.10517	T	0.551	0.09393	T	0.102	0.25827	B	0.048	0.24975	B	0.059073	0.22352	N	0.379952	1	0.08975	N	2.4	0.69460	M	1.59	0.28836	T	-0.5	0.15782	N	0.064	0.03613	-0.9679	0.37632	T	0.017	0.06950	T	10	0.008774191	0.00199	T	0.006504	0.17129	T	0.051	0.14325	0.549	0.66436	0.583783962782	0.58051	0.15777850133853077	0.15698	0.0448611855857	0.04851	0.320056021214	0.13429	T	0.009123	0.08323	T	-0.579136	0.00195	T	-0.599819	0.12826	T	0.00686507471851824	0.00078	T	0.859414	0.55137	D	0.016476626	0.00200	0.022436127	0.00268	0.016476626	0.00200	0.022436127	0.00268	-3.121	0.11539	T	.	.	0.121	0.31658	B	.;.;.	.;.;.	1.238146	0.16335	12.47	0.74435273872029661	0.10694	0.80698	0.40269	D	AEFBI	0.124234	0.24020	N	-0.816928905228238	0.12878	0.6306189	-0.783641183062532	0.14896	0.7807172	0.0878242586402551	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.73	0.7	0.17258	1.228000	0.32190	1.101000	0.24069	-0.050000	0.17177	0.943000	0.32764	0.991000	0.31484	0.432000	0.27494	0.4051:0.1801:0.4148:0.0	4.687	0.12144	482	0.77288	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008073	0.005051	0.004076	0.017751	0.000000	0.000000	0.003049	0.011364	0.07143	1699.63	33	chr6	17637748	.	A	C	1699.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=302;ExcessHet=0;FS=0.682;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.82;ReadPosRankSum=0.872;SOR=0.826	GT:AD:DP:GQ:PL	0/1:58,65:123:99:1710,0,1431	6	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	474.08	36	chr6	24145554	.	C	T	474.08	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.235;DP=362;ExcessHet=1.383;FS=215.002;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.89;ReadPosRankSum=1.26;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,18:49:99:.:.:161,0,492:.	3	0	3	1
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4449.08	53	chr6	29942948	.	C	*	4449.08	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.2;DP=564;ExcessHet=4.7409;FS=5.536;MLEAC=1;MLEAF=0.071;MQ=59.19;MQRankSum=-2.422;QD=9.71;ReadPosRankSum=1.19;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,18:131:99:0|1:29942911_A_G:416,0,4691:29942911	6	0	1	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	9878.97	32	chr6	29942984	.	G	*	9878.97	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.7;DP=445;ExcessHet=0.4813;FS=1.791;MLEAC=1;MLEAF=0.071;MQ=59;MQRankSum=-2.621;QD=22.4;ReadPosRankSum=1.1;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,13:108:99:0|1:29942911_A_G:260,0,3950:29942911	6	0	1	0
chr6	30546752	30546752	G	A	exonic	GNL1	.	nonsynonymous SNV	GNL1:NM_005275:exon11:c.C1526T:p.A509V	.	431	1071	19	1	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0032	0.00319489	0.0038	0.0003	0.0031	0.0004	0.0008	0.0047	0.0023	0.0059	0.0034476	533	154602	rs145831378	0.0028	0.0028	0.0025	0.0030	0.0082	0.0027	0.0027	0.0063	0.0057	0.0004	0.0028	0.0147	0.0004	0.0005	0.0082	0.0025	0.0039	0.0046	0.0024	0.0024	0.0022	0.0025	0.0048	0.0022	0.0021	0.0033	0.0028	0.0004	0	0.0029	0.0121	0.0008	0.0002	0.0068	0.0032	0.0038	0.0048	0.074	0.34621	T	0.236	0.24694	T	0.002	0.09854	B	0.001	0.04355	B	0.000009	0.62929	D	0.110120	0.999996	0.58761	D	1.665	0.42610	L	0.99	0.41750	T	-2.67	0.57110	D	0.522	0.55193	-1.0959	0.04625	T	0.052	0.22269	T	10	0.0069569647	0.00158	T	.	.	.	0.086	0.25016	.	.	0.151262610727	0.14761	0.7024483770050935	0.70185	0.893744166921	0.70334	0.514862060547	0.40903	T	0.089616	0.38410	T	-0.409983	0.01988	T	-0.36046	0.37999	T	0.0259308743458124	0.01397	T	.	.	.	0.13853389	0.32035	0.25031698	0.50620	0.13853389	0.32035	0.25031698	0.50619	-7.002	0.54048	T	.	.	0.272	0.50627	B	.	.	4.256509	0.64649	24.7	0.99745488045738573	0.83852	0.97412	0.74585	D	AEFBI	0.635611	0.61507	D	0.16132719026619	0.49351	3.136349	0.322455380877727	0.56862	3.850263	0.999998690448539	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.116000	0.76750	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0827:0.0:0.9173:0.0	12.182	0.53524	814	0.42100	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006536	0.000000	0.001359	0.000000	0.000000	0.008772	0.012195	0.018939	0.07143	415.45	28	chr6	30546752	.	G	A	415.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.167;DP=227;ExcessHet=0;FS=0.984;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.29;ReadPosRankSum=0.393;SOR=0.837	GT:AD:DP:GQ:PL	0/1:45,21:66:99:426,0,1136	6	0	1	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.1429	4775.65	99	chr6	31270002	.	C	T	4775.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.148;DP=653;ExcessHet=0.3476;FS=1.479;MLEAC=2;MLEAF=0.143;MQ=59.22;MQRankSum=0.611;QD=17.82;ReadPosRankSum=1.06;SOR=0.58	GT:AD:DP:GQ:PL	0/1:65,53:118:99:2015,0,2570	5	0	2	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.1429	934.65	77	chr6	31270250	.	C	A	934.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.861;DP=406;ExcessHet=0.3476;FS=9.238;MLEAC=2;MLEAF=0.143;MQ=48.45;MQRankSum=1.65;QD=7.19;ReadPosRankSum=-1.64;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,19:50:99:.:.:478,0,830:.	5	0	2	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.1429	454.26	68	chr6	31355425	.	T	C	454.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.12;DP=887;ExcessHet=0.3476;FS=14.894;MLEAC=2;MLEAF=0.143;MQ=58.01;MQRankSum=-8.493;QD=1.57;ReadPosRankSum=-0.549;SOR=0.794	GT:AD:DP:GQ:PL	0/1:175,30:205:99:450,0,5161	5	0	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3248.86	79	chr6	31356827	.	T	*	3248.86	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.074;DP=685;ExcessHet=0.4813;FS=2.833;MLEAC=6;MLEAF=0.429;MQ=55.9;MQRankSum=-1.834;QD=5.84;ReadPosRankSum=-1.184;SOR=0.498	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,93:164:99:0|1:31356809_C_T:3678,0,2701:31356809	3	2	2	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4534.51	23	chr6	31412384	.	G	*	4534.51	.	AC=6;AF=0.429;AN=14;DP=257;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;QD=27.99;SOR=2.147	GT:AD:DP:GQ:PL	0/1:0,16:32:99:2007,923,819	2	1	4	0
chr6	31954626	31954631	CGATCC	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.666_671del:p.D227_R228del	.	422	1016	78	6	0	90	0.0424128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00579073	0.0094	0.0007	0.0115	0.0004	0.0022	0.0123	0.0137	0.0087	0.00146	38	26028	rs202172278	0.0067	0.0067	0.0062	0.0071	0.0436	0.0066	0.0065	0.0392	0.0374	0.0010	0.0126	0.0786	0.0004	0.0018	0.0436	0.0047	0.0122	0.0087	0.0072	0.0071	0.0070	0.0074	0.0151	0.0068	0.0067	0.0134	0.0128	0.0010	0	0.0151	0.0773	0.0006	0.0011	0.0451	0.0069	0.0159	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107961	0.272727	0.058424	0.026596	0.250000	0.051724	0.138037	0.094697	0.07143	2833.79	40	chr6	31954625	.	TCGATCC	T	2833.79	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.52;DP=374;ExcessHet=0;FS=5.112;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.68;ReadPosRankSum=0.656;SOR=1.148	GT:AD:DP:GQ:PL	0/1:71,73:144:99:2844,0,2721	6	0	1	0
chr6	31962033	31962033	T	G	exonic	SKIV2L	.	nonsynonymous SNV	SKIV2L:NM_006929:exon10:c.T1043G:p.L348R	Trichohepatoenteric syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.0349633723467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.375	0.68372	M	2.53	0.14038	T	-5.45	0.85468	D	0.903	0.90363	-1.1272	0.01921	T	0.065	0.26807	T	10	0.89095634	0.88437	D	0.034963	0.56032	D	0.556	0.81717	0.724	0.85850	0.57330664977	0.56998	0.8879127444121067	0.88760	1.46540379897	0.86441	0.819947719574	0.85020	D	0.253175	0.62366	T	0.242964	0.77942	D	0.111225	0.77655	D	0.997872948646545	0.92644	D	.	.	.	0.74716926	0.80704	0.7899474	0.87643	0.74716926	0.80705	0.7899474	0.87643	-12.449	0.86969	D	.	.	0.800	0.77287	P	.	.	5.152029	0.86294	28.9	0.99786340220633363	0.87219	0.99627	0.98126	D	AEFBI	0.932502	0.92296	D	0.781091360840679	0.84910	8.42144	0.773623478554313	0.87907	9.387054	0.999999999999055	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	7.385000	0.79030	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.000	0.71121	923	0.18507	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	692.83	35	chr6	31962033	.	T	G	692.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.923;DP=255;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=-0.733;SOR=0.743	GT:AD:DP:GQ:PL	0/1:46,31:77:99:703,0,1223	6	0	1	0
chr6	32039118	32039118	C	T	exonic	CYP21A2	.	nonsynonymous SNV	CYP21A2:NM_001128590:exon2:c.C227T:p.P76L,CYP21A2:NM_000500:exon3:c.C317T:p.P106L	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	27197	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.166	0.125585124913	.	0.000599042	0.0001	0.0001	0.0001	0	0.0002	9.369e-05	0	0.0002	8.41e-05	13	154602	rs550051210	2.332e-05	2.531e-05	2.045e-05	2.621e-05	0.0002	1.678e-05	1.481e-05	7.325e-05	5.189e-05	0	0.0002	0	0	1.889e-05	0	2.071e-05	3.318e-05	1.17e-05	5.26e-05	5.25e-05	5.145e-05	5.38e-05	0.0004	2.558e-05	1.831e-05	7.315e-05	3.038e-05	4.818e-05	0	0.0002	0	0	0	0	1.472e-05	0	0.0004	0.078	0.42199	T	0.111	0.37173	T	0.012	0.16265	B	0.01	0.14941	B	0.529754	0.11652	N	0.704704	1	0.08975	N	.	.	.	-0.27	0.78967	T	-0.59	0.31375	N	0.145	0.14905	-1.0156	0.25143	T	0.062	0.25887	T	10	0.22942439	0.39870	T	0.125585	0.80712	D	0.166	0.42578	0.831	0.94042	0.903605074516	0.90264	0.348101854316612	0.34724	0.478852830938	0.46947	0.330982327461	0.15082	T	0.015004	0.12667	T	-0.254892	0.13505	T	-0.319197	0.42664	T	0.0128835517685919	0.00221	T	0.761424	0.62800	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.38099	B	.;.;.;.;.;.	.;.;.;.;.;.	0.544463	0.09130	5.913	0.70471528318185861	0.09307	0.01802	0.05623	N	AEFBI	0.150815	0.27518	N	-1.09923804138352	0.06658	0.3071024	-1.0539503352821	0.08625	0.4249804	1.78913668649346E-4	0.05786	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.562822	0.20929	0	.	.	4.63	2.46	0.29032	-0.319000	0.08080	.	.	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.53:0.307:0.0:0.163	4.060	0.09315	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1103.44	35	chr6	32039118	.	C	T	1103.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.32;DP=268;ExcessHet=0.3476;FS=4.852;MLEAC=2;MLEAF=0.143;MQ=59.96;MQRankSum=0.772;QD=10.41;ReadPosRankSum=-0.881;SOR=0.544	GT:AD:DP:GQ:PL	0/1:25,24:49:99:610,0,937	5	0	2	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3108.52	40	chr6	32521978	.	GT	*	3108.52	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.92;DP=633;ExcessHet=1.383;FS=27.359;MLEAC=2;MLEAF=0.167;MQ=49.49;MQRankSum=1.1;QD=7.91;ReadPosRankSum=-0.427;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,98:202:99:0|1:32521957_G_A:3802,0,4072:32521957	4	0	2	1
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	4438.32	8	chr6	32522104	.	G	*	4438.32	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.79;DP=301;ExcessHet=2.5225;FS=31.069;MLEAC=6;MLEAF=0.429;MQ=43.88;MQRankSum=3.24;QD=15.1;ReadPosRankSum=4.12;SOR=0.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,18:40:99:0|1:32522086_T_C:685,0,768:32522086	3	2	2	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	13412.6	23	chr6	32522156	.	T	*	13412.6	.	AC=6;AF=0.429;AN=14;DP=399;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=46.61;QD=33.7;SOR=1.193	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:56:99:0|1:32522156_T_A:2351,1722,1676:32522156	1	0	6	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.46	23	chr6	32522157	.	C	*	4902.46	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.194;DP=394;ExcessHet=0;FS=5.589;MLEAC=5;MLEAF=0.417;MQ=47.07;MQRankSum=-5.386;QD=21.6;ReadPosRankSum=1.74;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:56:99:0|1:32522156_T_A:2351,1722,1676:32522156	1	0	5	1
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	4902.47	23	chr6	32522159	.	T	*	4902.47	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.23;DP=395;ExcessHet=0;FS=6.757;MLEAC=5;MLEAF=0.417;MQ=47.01;MQRankSum=-5.49;QD=21.6;ReadPosRankSum=1.92;SOR=0.366	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,15:56:99:0|1:32522156_T_A:2351,1722,1676:32522156	1	0	5	1
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	7710.75	37	chr6	32530184	.	T	*	7710.75	.	AC=10;AF=0.714;AN=14;DP=439;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.98;QD=19.04;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,52:52:99:1|1:32530183_CTT_C:2299,156,0:32530183	2	5	0	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9221.64	37	chr6	32530185	.	T	*	9221.64	.	AC=9;AF=0.643;AN=14;DP=432;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=55.12;QD=23.05;SOR=1.31	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,52:52:99:1|1:32530183_CTT_C:2299,156,0:32530183	2	4	1	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	15396.9	93	chr6	32584177	.	CG	*	15396.9	.	AC=10;AF=0.714;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=10;MLEAF=0.714;MQ=54.19;QD=20;SOR=1.274	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,136:136:99:1|1:32584176_CCG_C:6118,409,0:32584176	1	4	2	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	490.48	93	chr6	32584178	.	G	*	490.48	.	AC=13;AF=0.929;AN=14;DP=815;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=53.91;QD=0.65;SOR=1.263	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,136:136:99:1|1:32584176_CCG_C:6118,409,0:32584176	0	6	1	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	24561.1	243	chr6	32584370	.	G	*	24561.1	.	AC=6;AF=0.429;AN=14;BaseQRankSum=5.49;DP=1443;ExcessHet=0.3476;FS=0;MLEAC=6;MLEAF=0.429;MQ=51.3;MQRankSum=-1.108;QD=17.24;ReadPosRankSum=5.06;SOR=1.523	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,199:343:99:0|1:32584279_A_G:14673,6065,5448:32584279	1	0	6	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2613.32	74	chr6	32641444	.	G	*	2613.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.712;DP=808;ExcessHet=2.5225;FS=20.088;MLEAC=7;MLEAF=0.5;MQ=50.87;MQRankSum=-1.068;QD=3.23;ReadPosRankSum=-0.792;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,49:235:99:0|1:32641430_C_T:1498,0,7663:32641430	2	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2700.32	74	chr6	32641445	.	A	*	2700.32	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.18;DP=810;ExcessHet=2.5225;FS=19.739;MLEAC=7;MLEAF=0.5;MQ=51.17;MQRankSum=-0.887;QD=3.33;ReadPosRankSum=-0.792;SOR=1.247	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,49:235:99:0|1:32641430_C_T:1498,0,7663:32641430	2	2	3	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	907.51	68	chr6	32641462	.	G	*	907.51	.	AC=9;AF=0.643;AN=14;DP=833;ExcessHet=2.5225;FS=10.673;MLEAC=9;MLEAF=0.643;MQ=53.04;QD=1.1;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,48:236:99:0|1:32641430_C_T:1450,0,7702:32641430	0	2	5	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	910.51	68	chr6	32641464	.	T	*	910.51	.	AC=9;AF=0.643;AN=14;DP=836;ExcessHet=2.5225;FS=9.491;MLEAC=9;MLEAF=0.643;MQ=53.75;QD=1.11;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,48:236:99:0|1:32641430_C_T:1450,0,7702:32641430	0	2	5	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5139.46	58	chr6	32641501	.	G	*	5139.46	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.15;DP=864;ExcessHet=2.5225;FS=1.787;MLEAC=7;MLEAF=0.5;MQ=57.9;MQRankSum=0;QD=5.95;ReadPosRankSum=-0.19;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:207,30:237:99:0|1:32641476_G_A:637,0,8602:32641476	2	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4857.75	64	chr6	32641522	.	A	*	4857.75	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0;DP=915;ExcessHet=2.5225;FS=6.106;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=0;QD=5.32;ReadPosRankSum=1.36;SOR=1.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,38:251:99:0|1:32641476_G_A:791,0,8756:32641476	2	2	3	0
chr6	33196472	33196472	C	T	exonic	RXRB	.	nonsynonymous SNV	RXRB:NM_001291989:exon4:c.G385A:p.V129I,RXRB:NM_001270401:exon5:c.G955A:p.V319I,RXRB:NM_021976:exon5:c.G955A:p.V319I	.	414	1097	11	0	0	11	0.00498866	.	.	.	2693339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.107	0.0136837423552	.	0.000199681	0.0002	0	0.0003	0	0	0.0003	0	0.0003	0.0001682	26	154602	rs201059237	0.0001	0.0001	0.0001	0.0001	0.0031	0.0001	0.0001	0.0020	0.0017	0	0.0006	0	2.519e-05	0	0.0031	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0005	9.623e-05	0	0.0010	0	0	9.411e-05	0	0.0001	0	0.0002	0.384	0.11050	T	0.547	0.09522	T	0.059	0.23051	B	0.004	0.10090	B	0.407263	0.13044	N	0.738124	0.743221	0.33846	D	0.275	0.09989	N	-0.45	0.69896	T	-0.34	0.12661	N	0.087	0.06454	-0.6483	0.62788	T	0.356	0.71881	T	10	0.023199797	0.00600	T	0.013684	0.33266	T	0.107	0.30369	.	.	0.375737878683	0.37188	0.06156134391304991	0.06096	0.829311628033	0.67554	0.359082013369	0.19251	T	0.31551	0.68711	T	-0.423917	0.01615	T	-0.49267	0.23112	T	0.0132337005695554	0.00235	T	.	.	.	0.026787026	0.01782	0.0640791	0.12789	0.026787026	0.01782	0.0640791	0.12788	-5.546	0.42434	T	.	.	0.075	0.05668	B	.;.	.;.	2.204808	0.28123	17.69	0.98556971412200456	0.42922	0.95998	0.67072	D	AEFBI	0.298442	0.40776	N	-0.326501520660418	0.28144	1.549971	-0.150317486408982	0.33397	1.910	0.999512270289824	0.40117	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.9	4.03	0.46115	0.537000	0.22854	1.031000	0.23480	0.589000	0.31548	0.682000	0.28457	1.000000	0.68203	0.996000	0.76049	0.0:0.7251:0.1799:0.095	6.722	0.22525	814	0.42100	Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001089	0.000000	0.000000	0.000000	0.000000	0.008772	0.003049	0.000000	0.07143	997.83	31	chr6	33196472	.	C	T	997.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.803;DP=236;ExcessHet=0;FS=1.03;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=1.78;SOR=0.498	GT:AD:DP:GQ:PL	0/1:21,43:64:99:1008,0,469	6	0	1	0
chr6	33315817	33315817	G	A	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.C1100T:p.P367L,ZBTB22:NM_005453:exon2:c.C1100T:p.P367L	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0165891258494	0.0002	0.000998403	0.0007	9.615e-05	0.0002	0.0024	0	0.0005	0	0.0017	0.0006339	98	154602	rs144433957	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0014	0.0001	0.0002	0.0037	0.0019	0	0.0024	0.0002	0.0007	0.0017	0.0003	0.0003	0.0003	0.0002	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0001	0.0020	0.0012	0	0.0034	0.0002	0.0009	0.0019	0.17	0.22833	T	0.377	0.16134	T	0.9	0.49598	P	0.22	0.37792	B	0.005015	0.33181	N	0.000000	0.998722	0.45339	D	0.805	0.20218	L	3.49	0.05071	T	-0.19	0.09965	N	0.134	0.13198	-0.7096	0.59972	T	0.006	0.01870	T	10	0.00542295	0.00119	T	0.016589	0.37919	T	0.085	0.24743	.	.	0.44318313171	0.43938	0.3568708772449162	0.35601	0.634268845006	0.57287	0.681673705578	0.64509	T	0.006876	0.06306	T	-0.467899	0.00876	T	-0.450739	0.27616	T	0.0370227934690009	0.03159	T	0.780822	0.41560	T	0.15056697	0.34271	0.21324982	0.45827	0.15056697	0.34270	0.21324982	0.45827	-3.056	0.10798	T	.	.	0.178	0.38782	B	.;.	.;.	2.784147	0.36579	20.3	0.81510298013693272	0.13721	0.69865	0.34358	D	AEFBCI	0.247420	0.36800	N	0.0393857772258344	0.43655	2.654243	0.101876411518386	0.44643	2.742195	0.999995624337189	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.09	4.09	0.47038	2.641000	0.46254	7.439000	0.58857	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	13.851	0.62994	616	0.66398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	2292.26	35	chr6	33315817	.	G	A	2292.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.7;DP=352;ExcessHet=0.3476;FS=5.006;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.246;SOR=0.858	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1165,0,1275	5	0	2	0
chr6	33405054	33405054	T	C	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.T959C:p.V320A	.	402	1105	13	2	0	17	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00316937780823	0.0002	0.00199681	0.0010	9.649e-05	0.0006	0.0028	0	0.0007	0	0.0029	0.0009832	152	154602	rs149106445	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	0.0001	0.0005	0.0038	0.0021	0	0.0047	0.0003	0.0011	0.0027	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0003	0.0019	0.0015	4.81e-05	0	0.0004	0.0026	0.0014	0	0.0102	0.0003	0.0014	0.0031	0.13	0.26740	T	0.176	0.29843	T	0.016	0.17332	B	0.015	0.17295	B	0.016577	0.27944	N	0.371861	0.948109	0.37596	D	0.365	0.12025	N	1.0	0.41392	T	-1.82	0.42763	N	0.12	0.11054	-1.0574	0.12414	T	0.022	0.09330	T	10	0.008636802	0.00196	T	0.003169	0.06936	T	0.080	0.23350	.	.	0.504541157375	0.50091	0.4630334206756604	0.46222	0.481891860051	0.47163	0.637899279594	0.58265	T	0.036619	0.24171	T	-0.522888	0.00423	T	-0.528172	0.19469	T	0.00617480142371303	0.00068	T	.	.	.	0.103075996	0.24361	0.10514459	0.25270	0.103075996	0.24361	0.10514459	0.25269	-4.085	0.25068	T	.	.	0.097	0.15966	B	.	.	2.926918	0.38873	20.8	0.98247475137208662	0.39539	0.70780	0.34733	D	AEFDBCI	0.093667	0.18950	N	-0.314474572505403	0.28597	1.578677	-0.101325459073743	0.35337	2.043223	0.999978134242809	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	1.547000	0.35798	3.989000	0.40972	0.665000	0.62972	0.496000	0.26925	1.000000	0.68203	0.994000	0.71098	0.0:0.1839:0.0:0.8161	5.338	0.15274	366	0.84579	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002723	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.1429	3613.25	34	chr6	33405054	.	T	C	3613.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.85;DP=454;ExcessHet=0.3476;FS=0.858;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.412;SOR=0.751	GT:AD:DP:GQ:PL	0/1:75,74:149:99:1878,0,1800	5	0	2	0
chr6	34871686	34871686	A	G	exonic	UHRF1BP1	.	nonsynonymous SNV	UHRF1BP1:NM_017754:exon19:c.A4084G:p.I1362V	.	430	1076	16	0	0	16	0.00738007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0065	0.00479233	0.0071	0.0011	0.0090	0.0007	0.0060	0.0085	0.0157	0.0064	0.0068175	1054	154602	rs147415559	0.0075	0.0075	0.0073	0.0077	0.0146	0.0074	0.0073	0.0121	0.0111	0.0014	0.0089	0.0133	0.0003	0.0065	0.0146	0.0078	0.0079	0.0071	0.0063	0.0064	0.0063	0.0063	0.0090	0.0060	0.0059	0.0078	0.0076	0.0012	0.0286	0.0090	0.0135	0.0002	0.0063	0.0238	0.0084	0.0114	0.0068	0.107	0.29554	T	0.306	0.19972	T	0.0	0.02946	B	0.002	0.06944	B	0.013352	0.28869	N	0.388740	0.999976	0.19072	N	1.895	0.50365	L	2.93	0.10386	T	-0.54	0.17210	N	0.135	0.26111	-0.9540	0.40274	T	0.005	0.01833	T	10	0.0040123165	0.00078	T	.	.	.	0.038	0.09825	.	.	0.166414681773	0.16258	0.3526776110218733	0.35181	0.107623241374	0.12144	0.248244732618	0.03585	T	0.014213	0.12144	T	-0.606782	0.00132	T	-0.63798	0.09816	T	0.00257089722774354	0.00027	T	0.606339	0.22814	T	0.021554956	0.00765	0.030293586	0.01466	0.021554956	0.00765	0.030293586	0.01466	-3.97	0.23353	T	.	.	0.086	0.10691	B	.;.	.;.	0.412397	0.07833	4.527	0.9730147765059125	0.33280	0.19127	0.20538	N	AEFBI	0.088701	0.17982	N	-0.7715972624988	0.14053	0.6970028	-0.715032602805248	0.16587	0.8781495	0.131536229338027	0.17100	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.08	-3.13	0.04944	-0.455000	0.06837	-0.094000	0.12022	-0.053000	0.16966	0.000000	0.06391	0.000000	0.08366	0.991000	0.66497	0.3455:0.3991:0.061:0.1944	4.156	0.09727	290	0.88477	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015106	0.030303	0.017663	0.017544	0.000000	0.008621	0.012195	0.007576	0.1429	2399.24	39	chr6	34871686	.	A	G	2399.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.554;DP=402;ExcessHet=0.3476;FS=1.565;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-0.78;SOR=0.804	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1441,0,1619	5	0	2	0
chr6	35835473	35835473	A	G	exonic	SRPK1	.	nonsynonymous SNV	SRPK1:NM_003137:exon16:c.T1799C:p.I600T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.690	0.121324620915	.	0.000199681	9.209e-06	0	0	0	0	0	0	7.003e-05	1.29e-05	2	154602	rs539500451	4.793e-06	6.156e-06	4.087e-06	5.507e-06	5.977e-05	1.99e-06	1.28e-06	9.9e-06	3.7e-06	5.977e-05	0	0	0	0	0	4.499e-06	0	0	6.567e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	2.515	0.73286	M	2.1	0.19990	T	-4.66	0.79482	D	0.718	0.81459	-1.0263	0.21658	T	0.094	0.35684	T	9	0.81816316	0.81039	D	0.121325	0.80206	D	0.690	0.88726	0.723	0.85761	0.680966952415	0.67825	0.701705663803384	0.70111	1.05219851348	0.76191	0.912048220634	0.97661	D	0.187979	0.54175	T	0.26527	0.80014	D	0.143266	0.79755	D	0.904688659125056	0.55822	D	0.986801	0.95481	D	0.78970605	0.83254	0.7955776	0.87993	0.78970605	0.83256	0.7955776	0.87994	-13.134	0.90090	D	.	.	1.000	0.99219	P	.;.;.	.;.;.	5.093250	0.85064	28.5	0.99678913926992063	0.79108	0.99167	0.92217	D	AEFBI	0.899675	0.84433	D	0.809544352620506	0.86699	8.970198	0.795664345187415	0.89489	9.996534	0.999999999999478	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	9.321000	0.95528	11.251000	0.90746	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.583	0.76198	485	0.77085	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1420.04	38	chr6	35835473	.	A	G	1420.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.195;DP=306;ExcessHet=0.3476;FS=0.693;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.835;SOR=0.797	GT:AD:DP:GQ:PL	0/1:35,31:66:99:735,0,839	5	0	2	0
chr6	39310980	39310980	C	T	exonic	KCNK17	.	nonsynonymous SNV	KCNK17:NM_001135111:exon2:c.G265A:p.A89T,KCNK17:NM_031460:exon2:c.G265A:p.A89T	.	433	1079	10	0	0	10	0.00461255	.	.	.	2823003	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.00538159359875	0.0008	0.00159744	0.0011	9.639e-05	0.0005	0	0.0003	0.0012	0	0.0032	0.0010867	168	154602	rs143146161	0.0010	0.0010	0.0009	0.0011	0.0056	0.0010	0.0009	0.0040	0.0035	0.0002	0.0005	0	0	0.0001	0.0056	0.0009	0.0008	0.0034	0.0009	0.0009	0.0009	0.0008	0.0027	0.0007	0.0007	0.0016	0.0013	0.0002	0	0.0015	0	0	0.0003	0	0.0012	0.0024	0.0027	0.251	0.27194	T	0.138	0.41239	T	0.009	0.15093	B	0.021	0.19346	B	0.494553	0.12019	N	0.718395	1	0.08975	N	-0.155	0.04359	N	2.31	0.16794	T	0.13	0.05503	N	0.077	0.05162	-0.9417	0.42346	T	0.008	0.02638	T	10	0.00647521	0.00147	T	0.005382	0.13801	T	0.058	0.16647	.	.	0.253726318573	0.24972	0.36932081505905584	0.36846	0.212328705476	0.23733	0.270790725946	0.06244	T	0.010447	0.09434	T	-0.721011	0.00027	T	-0.812762	0.01604	T	0.00312089726623152	0.00033	T	0.659934	0.26896	T	0.043178026	0.06682	0.049226243	0.07479	0.043178026	0.06682	0.049226243	0.07478	-3.619	0.27155	T	0.11920041416129093	0.11079	0.068	0.06433	B	.;.	.;.	0.546904	0.09157	5.938	0.95790334705674085	0.27828	0.03312	0.08375	N	AEFDBCI	0.060169	0.11417	N	-1.00257577590257	0.08550	0.4013161	-1.0111631506793	0.09539	0.4751674	0.0183516225765985	0.13049	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.542086	0.14980	0	.	.	5.42	-1.41	0.08473	-1.064000	0.03572	-0.638000	0.08091	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.500000	0.29017	0.2717:0.2985:0.0:0.4298	3.789	0.08233	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.011364	0.1429	2548.44	42	chr6	39310980	.	C	T	2548.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.44;DP=355;ExcessHet=0.3476;FS=0.515;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.183;SOR=0.744	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1312,0,1173	5	0	2	0
chr6	52282072	52282072	A	C	exonic	MCM3	.	nonsynonymous SNV	MCM3:NM_001270472:exon3:c.T366G:p.F122L,MCM3:NM_001366369:exon4:c.T504G:p.F168L,MCM3:NM_001366370:exon4:c.T504G:p.F168L,MCM3:NM_001366371:exon4:c.T504G:p.F168L,MCM3:NM_001366372:exon4:c.T504G:p.F168L,MCM3:NM_001366375:exon4:c.T504G:p.F168L,MCM3:NM_002388:exon4:c.T504G:p.F168L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0173501740393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.657	0.04742	T	0.74	0.04982	T	0.058	0.22967	B	0.023	0.19966	B	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	0.95	0.23787	L	3.71	0.04046	T	-2.47	0.53898	N	0.852	0.90476	-0.9873	0.33273	T	0.004	0.01400	T	10	0.38849932	0.54718	T	0.01735	0.39013	T	0.201	0.48592	0.309	0.28128	0.322786055943	0.31880	0.5137175339944182	0.51293	0.222960362883	0.24822	0.810539126396	0.83575	D	0.338891	0.70811	T	-0.0252247	0.48107	T	-0.27401	0.47414	T	0.652147591114044	0.38554	D	0.851615	0.58433	D	0.49420336	0.66753	0.27977744	0.53948	0.49420336	0.66754	0.27977744	0.53947	-7.571	0.58108	D	.	.	0.896	0.82474	P	.;.;.;.	.;.;.;.	3.290573	0.45128	22.1	0.908896347003603	0.20138	0.85888	0.45074	D	AEFBCI	0.485306	0.52495	N	-0.343237245594559	0.27522	1.510627	-0.176338283858057	0.32408	1.843537	0.999924006811314	0.46280	0.706548	0.73137	0	0.581341	0.33841	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.69	3.36	0.37579	2.588000	0.45802	2.956000	0.35735	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.7634:0.0:0.2366:0.0	8.182	0.30476	593	0.68665	MCM OB domain;.;.;MCM OB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	778.44	36	chr6	52282072	.	A	C	778.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.927;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.65;ReadPosRankSum=0.029;SOR=0.622	GT:AD:DP:GQ:PL	0/1:52,38:90:99:789,0,1280	6	0	1	0
chr6	52403967	52403967	A	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.A754G:p.I252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00527960526329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.978e-05	0.0024	1.833e-05	2.124e-05	2.524e-05	1.372e-05	1.181e-05	1.728e-05	1.481e-05	0	2.239e-05	0	0	0	0	2.524e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.041	0.23986	B	0.000025	0.55875	D	0.115163	0.999832	0.49637	D	.	.	.	1.69	0.27032	T	0.18	0.05035	N	0.134	0.13055	-1.0252	0.22017	T	0.018	0.07518	T	9	0.10744271	0.19958	T	0.00528	0.13494	T	0.060	0.17295	0.488	0.57257	0.376393476264	0.37247	0.3401186203858187	0.33924	0.3389385424	0.35853	0.68097782135	0.64409	T	0.052677	0.29229	T	-0.214048	0.18812	T	-0.545242	0.17786	T	0.904308378696442	0.55774	D	0.813919	0.46746	T	0.07455341	0.16739	0.0980514	0.23362	0.07455341	0.16739	0.0980514	0.23362	-3.487	0.16251	T	.	.	0.198	0.42111	B	.;.	.;.	2.178607	0.27765	17.57	0.81419057112976168	0.13676	0.59864	0.31033	D	ALL	0.196894	0.32384	N	-0.163518393347399	0.34660	1.981109	0.0656923634619325	0.42836	2.598076	0.999999999628226	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	4.094000	0.57448	11.121000	0.86550	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.038	0.71424	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	968.74	97	chr6	52403967	.	A	G	968.74	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.58;DP=835;ExcessHet=1.1394;FS=134.601;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.7;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,55:225:99:.:.:804,0,3638:.	2	0	3	2
chr6	70579485	70579485	C	T	exonic	SDHAF4	.	stopgain	SDHAF4:NM_145267:exon2:c.C136T:p.Q46X	.	434	1086	1	1	0	3	0.00137931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	0.0091853	0.0031	0.0142	0.0030	0.0096	0	0.0005	0.0066	0.0042	0.002846	440	154602	rs61735710	0.0014	0.0015	0.0014	0.0015	0.0144	0.0014	0.0014	0.0133	0.0129	0.0144	0.0027	0.0011	0.0107	1.875e-05	0.0049	0.0004	0.0030	0.0051	0.0054	0.0054	0.0054	0.0055	0.0145	0.0051	0.0050	0.0136	0.0132	0.0145	0	0.0060	0.0006	0.0096	9.42e-05	0.0034	0.0004	0.0085	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	0.000002	0.62929	D	0.101718	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.214	0.23884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0435668	0.57510	T	0.302778	0.88324	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	7.769793	0.96844	36	0.99799296255825187	0.88461	0.53165	0.29305	D	AEFBI	0.093184	0.18857	N	0.691463960071455	0.79072	7.001395	0.459888678907322	0.65354	4.813261	0.00798158111077994	0.11586	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	5.82	0.92740	1.226000	0.32167	3.863000	0.40147	0.589000	0.31548	0.994000	0.38300	1.000000	0.68203	0.526000	0.29613	0.166:0.834:0.0:0.0	12.562	0.55636	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.010101	0.010870	0.002924	0.000000	0.008621	0.000000	0.003788	0.07143	987.63	34	chr6	70579485	.	C	T	987.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.633;DP=246;ExcessHet=0;FS=0.943;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-0.698;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,27:72:99:0|1:70579485_C_T:998,0,1808:70579485	6	0	1	0
chr6	70668078	70668078	C	A	exonic	SMAP1	.	nonsynonymous SNV	SMAP1:NM_001044305:exon1:c.C55A:p.L19I,SMAP1:NM_001281439:exon1:c.C55A:p.L19I,SMAP1:NM_021940:exon1:c.C55A:p.L19I	.	414	1100	8	0	0	8	0.00362319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	.	0.0079	0.00259585	0.0075	0.0016	0.0032	0	0.0021	0.0121	0.0036	0.0025	0.0072767	1125	154602	rs112439957	0.0093	0.0093	0.0093	0.0093	0.0109	0.0092	0.0091	0.0108	0.0107	0.0011	0.0032	0.0167	2.574e-05	0.0028	0.0068	0.0109	0.0072	0.0025	0.0066	0.0066	0.0070	0.0061	0.0113	0.0062	0.0061	0.0106	0.0104	0.0015	0	0.0050	0.0135	0.0002	0.0026	0	0.0113	0.0033	0.0025	0.088	0.32296	T	0.088	0.40909	T	0.072	0.23997	B	0.21	0.37304	B	0.001848	0.37840	N	0.215756	0.618202	0.32681	D	1.28	0.32218	L	0.98	0.42122	T	-0.39	0.13611	N	0.311	0.35088	-1.0598	0.11805	T	0.059	0.24797	T	10	0.007963449	0.00181	T	.	.	.	0.115	0.32236	.	.	0.313793572803	0.30980	0.42975751990059075	0.42892	1.65366835051	0.89587	0.715027928352	0.69321	T	0.018582	0.14954	T	-0.536817	0.00350	T	-0.534482	0.18841	T	0.0840505881916873	0.10497	T	0.960604	0.85218	D	0.35457772	0.57421	0.30422977	0.56452	0.35457772	0.57422	0.30422977	0.56451	-7.803	0.60769	D	.	.	0.103	0.24329	B	.;.;.	.;.;.	4.130992	0.61814	24.4	0.97042495860566991	0.32117	0.80577	0.40178	D	ALL	0.698199	0.65595	D	-0.0392130313705469	0.40086	2.374627	0.110564315943496	0.45087	2.778255	0.999999999999661	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.81	4.81	0.61401	5.325000	0.65649	5.622000	0.49088	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.6921:0.3079:0.0	12.234	0.53821	644	0.63734	.;.;Arf GTPase activating protein|Arf GTPase activating protein	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005040	0.000000	0.009511	0.002924	0.000000	0.000000	0.006098	0.000000	0.07143	1547.45	44	chr6	70668078	.	C	A	1547.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.683;DP=320;ExcessHet=0;FS=7.92;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.43;SOR=0.587	GT:AD:DP:GQ:PL	0/1:59,71:130:99:1558,0,1262	6	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	2039.36	33	chr6	80007990	.	G	C	2039.36	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.147;DP=196;ExcessHet=3.1439;FS=227.851;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=1.29;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,15:40:99:0|1:80007990_G_C:447,0,872:80007990	3	0	2	2
chr6	80007992	80007997	GTTTTG	-	exonic	TTK	.	nonframeshift deletion	TTK:NM_001166691:exon3:c.323_328del:p.S108_A110delinsT,TTK:NM_003318:exon3:c.323_328del:p.S108_A110delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2031.79	33	chr6	80007991	.	AGTTTTG	A	2031.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.09;DP=229;ExcessHet=2.5225;FS=222.132;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.13;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,15:40:99:0|1:80007990_G_C:447,0,872:80007990	4	0	3	0
chr6	80007996	80007996	T	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	747.37	33	chr6	80007996	.	T	*	747.37	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.639;DP=192;ExcessHet=3.1439;FS=221.982;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.85;ReadPosRankSum=0.399;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,15:40:99:0|1:80007990_G_C:447,0,872:80007990	3	0	3	1
chr6	80007997	80007997	-	CCCCCA	exonic	TTK	.	nonframeshift insertion	TTK:NM_001166691:exon3:c.328_329insCCCCCA:p.A110_R111insPT,TTK:NM_003318:exon3:c.328_329insCCCCCA:p.A110_R111insPT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	1257.96	32	chr6	80007997	.	G	GCCCCCA	1257.96	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-1.769;DP=177;ExcessHet=1.7609;FS=139.422;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.08;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,15:38:99:0|1:80007990_G_C:452,0,831:80007990	2	0	3	2
chr6	81752068	81752068	C	T	exonic	TENT5A	.	nonsynonymous SNV	TENT5A:NM_017633:exon2:c.G74A:p.G25D	.	411	1110	1	0	0	1	0.000450248	.	.	.	710622	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.179	.	0.0051	0.00658946	0.0027	0.0195	0.0051	0	0.0004	0.0019	0.0139	0	0.00174	269	154602	rs200972669	0.0021	0.0021	0.0022	0.0020	0.0199	0.0020	0.0020	0.0186	0.0181	0.0199	0.0066	0.0045	0	0.0001	0.0137	0.0015	0.0050	0	0.0081	0.0081	0.0080	0.0084	0.0214	0.0078	0.0076	0.0202	0.0197	0.0214	0	0.0123	0.0045	0	0.0002	0.0317	0.0014	0.0145	0	0.007	0.59928	D	0.015	0.61642	D	0.0	0.02946	B	0.001	0.04355	B	0.550978	0.11436	N	0.754912	0.777295	0.29922	N	.	.	.	-4.71	0.98035	D	0.02	0.08187	N	0.292	0.36569	0.050	0.83231	D	0.726	0.90629	D	9	0.0046316087	0.00097	T	.	.	.	0.179	0.44899	.	.	0.987341243947	0.98720	0.4768478063554591	0.47604	1.19444626942	0.80353	0.692417621613	0.66053	T	0.018108	0.14658	T	-0.00605984	0.50817	T	-0.246481	0.50164	T	0.0279360331189279	0.01678	T	0.738626	0.36078	T	0.07624414	0.17231	0.14385808	0.34175	0.114825346	0.27103	0.16227238	0.37701	-5.121	0.38697	T	.	.	0.151	0.40794	B	.;.;.	.;.;.	3.460753	0.48238	22.6	0.99384793044798747	0.62068	0.41272	0.26620	N	AEFDBHCIJ	0.245068	0.36607	N	-0.360116892642339	0.26903	1.471858	-0.235801220783516	0.30263	1.702479	0.999999999941062	0.74766	0.56387	0.32371	0	0.541556	0.11502	0	0.503968	0.08637	0	0.492483	0.08430	1	.	.	5.04	4.17	0.48303	2.533000	0.45326	1.681000	0.28012	0.522000	0.23927	0.958000	0.33488	0.969000	0.29651	0.959000	0.51448	0.0:0.9096:0.0:0.0904	10.488	0.43922	894	0.26265	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026667	0.123656	0.027624	0.002924	0.000000	0.008621	0.003205	0.003788	0.1429	1130.29	30	chr6	81752068	.	C	T	1130.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.825;DP=225;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.48;ReadPosRankSum=0.293;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,20:38:99:1|0:81752010_A_ACCGCCGAAGTCGCCG:534,0,542:81752010	5	0	2	0
chr6	82957319	82957319	G	T	exonic	UBE3D	.	nonsynonymous SNV	UBE3D:NM_001350603:exon8:c.C581A:p.S194Y,UBE3D:NM_001304437:exon9:c.C1046A:p.S349Y,UBE3D:NM_198920:exon9:c.C1142A:p.S381Y,UBE3D:NM_001350602:exon10:c.C1046A:p.S349Y,UBE3D:NM_001350604:exon10:c.C581A:p.S194Y	.	435	1068	18	1	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	.	0.0062	0.00179712	0.0065	0.0013	0.0038	0.0001	0.0189	0.0089	0.0055	0.0006	0.0063906	988	154602	rs34566948	0.0075	0.0075	0.0077	0.0074	0.0114	0.0074	0.0074	0.0092	0.0084	0.0012	0.0045	0.0085	0	0.0170	0.0114	0.0081	0.0074	0.0010	0.0063	0.0063	0.0061	0.0066	0.0084	0.0060	0.0059	0.0078	0.0076	0.0012	0.0011	0.0046	0.0081	0	0.0196	0.0274	0.0084	0.0080	0.0015	0.009	0.57480	D	0.002	0.79402	D	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.106577	1	0.81001	D	2.51	0.73131	M	1.45	0.32482	T	-4.0	0.74051	D	0.632	0.64563	-0.9164	0.46037	T	0.149	0.47540	T	10	0.017632455	0.00378	T	.	.	.	0.315	0.63694	.	.	0.326345978581	0.32251	0.6545564510920472	0.65391	0.894031276661	0.70350	0.547096848488	0.45448	T	0.036254	0.24035	T	-0.25914	0.13000	T	-0.135618	0.60496	T	0.016612235872143	0.00421	T	0.826617	0.49005	T	0.47465855	0.65576	0.5235199	0.72471	0.47465855	0.65576	0.5235199	0.72472	-8.699	0.65739	D	.	.	0.164	0.36214	B	.	.	4.388055	0.67691	25.1	0.99498180530173386	0.67859	0.94425	0.61124	D	AEFDBI	0.617271	0.60352	D	0.631594764806553	0.75182	6.261084	0.575537385164814	0.73191	5.930243	0.999999999582779	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.57	5.57	0.84021	5.791000	0.68692	9.895000	0.82304	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.192000	0.21661	0.0:0.0:1.0:0.0	16.467	0.83923	562	0.71143	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011078	0.010101	0.009511	0.008772	0.000000	0.000000	0.036585	0.000000	0.07143	1053.49	52	chr6	82957319	.	G	T	1053.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.197;DP=308;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.59;SOR=0.702	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1064,0,1042	6	0	1	0
chr6	87464029	87464029	C	T	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon13:c.C1648T:p.R550C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0718930982044	0.0013	0.000798722	0.0004	0.0028	8.857e-05	0	0.0002	0.0003	0.0011	0	0.0003558	55	154602	rs73752022	0.0002	0.0002	0.0002	0.0002	0.0032	0.0002	0.0002	0.0027	0.0025	0.0032	6.762e-05	0.0013	2.525e-05	1.878e-05	0.0021	6.955e-05	0.0005	9.375e-05	0.0007	0.0007	0.0008	0.0006	0.0021	0.0006	0.0005	0.0018	0.0016	0.0021	0	0.0004	0.0017	0.0002	0	0.0034	5.883e-05	0	0	0.001	0.78490	D	0.131	0.34596	T	1.0	0.90584	D	0.98	0.74843	D	0.000017	0.62929	D	0.152890	0.999991	0.58761	D	.	.	.	1.11	0.38883	T	-3.87	0.72594	D	0.526	0.55540	-0.5401	0.67159	T	0.276	0.64732	T	10	0.026932895	0.00849	T	0.071893	0.71389	D	0.239	0.54358	.	.	0.606442066225	0.60329	0.6478105308367476	0.64716	0.749753492462	0.63707	.	.	.	0.495183	0.81801	T	-0.311294	0.07634	T	-0.223293	0.52419	T	0.185307290956931	0.19564	T	0.952305	0.81786	D	0.24800293	0.47783	0.2310253	0.48222	0.24800293	0.47783	0.2310253	0.48221	-8.428	0.63951	D	.	.	0.101	0.17700	B	.	.	5.326972	0.89404	30	0.9990365288908355	0.97502	0.97471	0.74963	D	AEFBI	0.654907	0.62742	D	0.716644515468755	0.80723	7.357944	0.643177271147515	0.78103	6.80953	0.71963927963334	0.22916	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.78	5.78	0.91418	5.095000	0.64363	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.962000	0.52141	0.0:1.0:0.0:0.0	20.014	0.97470	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002520	0.005051	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	934.04	36	chr6	87464029	.	C	T	934.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.041;DP=221;ExcessHet=0.3476;FS=1.892;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=1.43;SOR=0.446	GT:AD:DP:GQ:PL	0/1:26,17:43:99:427,0,680	5	0	2	0
chr6	106519808	106519808	A	G	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001624:exon2:c.A1376G:p.E459G,CRYBG1:NM_001371242:exon4:c.A2600G:p.E867G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0212202703183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	1.368e-06	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	0	6.567e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.041	0.41915	D	0.024	0.56640	D	0.058	0.22967	B	0.028	0.21332	B	0.107070	0.19586	N	0.380172	0.557233	0.32183	D	.	.	.	-0.78	0.73631	T	-2.54	0.55025	D	0.097	0.10911	-0.8137	0.54325	T	0.187	0.53661	T	10	0.1305852	0.24851	T	0.02122	0.43954	T	0.144	0.38394	0.179	0.08626	0.592657251108	0.58943	0.20336707025620981	0.20253	0.104194873104	0.11789	0.325799465179	0.14299	T	0.081868	0.36696	T	-0.118302	0.33402	T	-0.407709	0.32489	T	0.300546569306755	0.25027	T	0.618838	0.23746	T	0.092914574	0.21811	0.09735285	0.23168	0.092914574	0.21811	0.09735285	0.23168	-3.752	0.20089	T	.	.	0.097	0.15966	B	.;.	.;.	2.477978	0.31950	18.90	0.99576274927560871	0.72742	0.38129	0.25918	N	ALL	0.125869	0.24257	N	-0.484201288877734	0.22598	1.207777	-0.403719046959895	0.24887	1.365423	1.0	0.98316	0.562547	0.31514	0	0.093493	0.02558	3	0.608524	0.38960	0	0.635551	0.53088	0	.	.	6.17	3.8	0.42887	1.200000	0.31854	5.432000	0.48595	-0.050000	0.17177	0.822000	0.30018	1.000000	0.68203	0.001000	0.02609	0.8418:0.0:0.1582:0.0	8.032	0.29632	863	0.32847	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	90.53	40	chr6	106519808	.	A	G	90.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.41;DP=426;ExcessHet=0;FS=98.078;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.897;SOR=7.328	GT:AD:DP:GQ:PL	0/1:139,38:177:99:101,0,3094	6	0	1	0
chr6	108663854	108663854	G	A	exonic	FOXO3	.	nonsynonymous SNV	FOXO3:NM_001455:exon2:c.G1021A:p.A341T,FOXO3:NM_201559:exon3:c.G1021A:p.A341T	.	426	1053	43	0	0	43	0.0200093	.	.	.	710103	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.131	.	0.0032	0.00259585	0.0049	0.0012	0.0098	0	0.0003	0.0055	0.0132	0.0054	0.0043855	678	154602	rs145259784	0.0033	0.0033	0.0031	0.0035	0.0293	0.0032	0.0032	0.0257	0.0243	0.0012	0.0066	0.0474	0	0.0004	0.0293	0.0019	0.0070	0.0056	0.0038	0.0038	0.0036	0.0040	0.0086	0.0035	0.0034	0.0074	0.0070	0.0010	0	0.0086	0.0475	0.0002	9.413e-05	0.0272	0.0026	0.0137	0.0044	0.038	0.42783	D	0.293	0.20811	T	0.204	0.29802	B	0.055	0.25995	B	0.004197	0.34013	N	0.343008	1	0.08975	N	0.99	0.25021	L	-2.64	0.90147	D	-0.48	0.15379	N	0.36	0.40665	-0.6141	0.64234	T	0.381	0.73744	T	10	0.007044345	0.00160	T	.	.	.	0.131	0.35738	.	.	0.855702866044	0.85431	0.2028257584335261	0.20199	.	.	0.449852347374	0.31923	T	0.418943	0.77113	T	-0.347946	0.04857	T	-0.268572	0.47965	T	0.00784643585367514	0.00092	T	0.810019	0.46084	T	0.02431428	0.01252	0.060943298	0.11689	0.02431428	0.01251	0.060943298	0.11688	-4.51	0.31019	T	.	.	0.075	0.05404	B	.;.;.	.;.;.	2.216561	0.28284	17.75	0.97082658405871858	0.32289	0.55788	0.29952	D	AEFDGBI	0.134308	0.25428	N	-0.470631801392504	0.23047	1.234884	-0.424609406794093	0.24278	1.328551	0.984320181979407	0.30699	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.71	3.8	0.42887	2.120000	0.41591	4.937000	0.46179	0.676000	0.76740	0.765000	0.29300	1.000000	0.68203	0.027000	0.12703	0.0:0.1233:0.6517:0.225	11.799	0.51388	618	0.66225	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030242	0.040404	0.039402	0.026316	0.000000	0.025862	0.027607	0.018939	0.1429	2808.24	108	chr6	108663854	.	G	A	2808.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.384;DP=391;ExcessHet=0.3476;FS=1.009;MLEAC=2;MLEAF=0.143;MQ=57.9;MQRankSum=0.187;QD=12.16;ReadPosRankSum=-0.005;SOR=0.684	GT:AD:DP:GQ:PL	0/1:57,66:123:99:1728,0,1578	5	0	2	0
chr6	109564193	109564193	A	G	exonic	AK9	.	nonsynonymous SNV	AK9:NM_001145128:exon23:c.T2522C:p.L841P	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	.	.	0.00439297	0.0018	0.0009	0.0098	0.0129	0.1176	0.0008	0.0158	0.0009	0.0007633	118	154602	rs117513176	0.0027	0.0025	0.0028	0.0025	0.0204	0.0026	0.0026	0.0192	0.0187	0.0002	0.0142	0	0.0204	0.0354	0.0004	0.0004	0.0036	0.0011	0.0049	0.0050	0.0039	0.0060	0.0131	0.0046	0.0045	0.0106	0.0097	0.0006	0	0.0113	0	0.0131	0.0359	0	0.0014	0.0061	0.0004	0.273	0.15876	T	0.282	0.21545	T	0.347	0.33585	B	0.063	0.27082	B	.	.	.	.	1	0.18878	N	0.345	0.11182	N	-0.03	0.63077	T	0.24	0.04533	N	0.388	0.42931	-1.0997	0.04128	T	0.025	0.10553	T	8	0.004540056	0.00094	T	.	.	.	0.140	0.37593	.	.	0.115124310173	0.11017	0.4780451427179059	0.47724	0.248207255185	0.27377	0.326635837555	0.14426	T	0.026557	0.19627	T	-0.494569	0.00613	T	-0.470217	0.25493	T	0.00900671051196357	0.00113	T	0.260474	0.04175	T	0.044268724	0.07047	0.06217126	0.12121	0.044268724	0.07046	0.06217126	0.12121	-5.159	0.38522	T	.	.	0.311	0.53831	B	.	.	-0.314006	0.02557	0.310	0.7322015313087713	0.10250	0.00838	0.03362	N	AEFI	0.037292	0.05105	N	-1.72477595083056	0.00757	0.03271586	-1.86877940210526	0.00563	0.02499288	0.999714364035838	0.42101	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.92	-11.8	0.00026	-1.435000	0.02529	-5.819000	0.01586	-0.651000	0.04387	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3607:0.1861:0.1006:0.3526	1.027	0.01434	684	0.59539	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004702	0.000000	0.000000	0.000000	0.000000	0.000000	0.015152	0.016667	0.07143	872.53	33	chr6	109564193	.	A	G	872.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.025;DP=239;ExcessHet=0;FS=0.939;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=-0.31;SOR=0.536	GT:AD:DP:GQ:PL	0/1:29,40:69:99:883,0,696	6	0	1	0
chr6	116106274	116106274	G	A	exonic	NT5DC1	.	nonsynonymous SNV	NT5DC1:NM_152729:exon2:c.G124A:p.V42I	.	821	699	2	0	0	2	0.00142857	.	.	.	2394372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.137	0.0100888927446	.	0.000199681	0.0001	0	0	0	0	0	0	0.0010	0.00011	17	154602	rs562689401	6.064e-05	6.089e-05	3.893e-05	8.246e-05	0.0011	4.975e-05	4.647e-05	0.0006	0.0005	3.036e-05	0	0	0	0	0.0011	1.378e-05	5.051e-05	0.0007	3.313e-05	3.297e-05	3.878e-05	2.718e-05	0.0004	1.269e-05	8.04e-06	7.381e-05	3.063e-05	2.429e-05	0	0	0	0	0	0	1.474e-05	0.0005	0.0004	0.028	0.46129	D	0.378	0.32675	T	0.968	0.56581	D	0.778	0.57212	P	0.000000	0.84330	D	0.000000	0.999516	0.47363	D	2.18	0.61292	M	1.66	0.27486	T	-0.58	0.19085	N	0.386	0.42737	-1.1026	0.03790	T	0.076	0.30397	T	10	0.07440767	0.11370	T	0.010089	0.26213	T	0.137	0.36984	0.459	0.52590	0.250039746154	0.24611	0.6091206718017386	0.60844	0.41639062897	0.42283	0.524206757545	0.42219	T	0.032503	0.24190	T	-0.378527	0.03183	T	-0.402009	0.33151	T	0.253540268477387	0.23031	T	0.907909	0.67446	D	0.15896383	0.35735	0.17435384	0.39825	0.15896383	0.35735	0.17435384	0.39824	-7.453	0.57279	T	0.2578541211828788	0.34843	0.135	0.37083	B	.;.	.;.	3.690617	0.52580	23.3	0.99796489984924253	0.88194	0.96071	0.67401	D	AEFDBI	0.857707	0.77511	D	0.478591799719864	0.65840	4.873534	0.473064123397342	0.66210	4.922619	0.999999973665892	0.74766	0.50712	0.20391	0	0.685571	0.66316	0	0.658105	0.52812	0	0.631177	0.49321	0	.	.	5.3	4.42	0.52775	7.401000	0.79199	7.226000	0.57860	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.8486:0.1514	14.150	0.64912	773	0.48803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	265.83	24	chr6	116106274	.	G	A	265.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.889;DP=160;ExcessHet=0;FS=1.441;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.743;SOR=1.022	GT:AD:DP:GQ:PL	0/1:16,12:28:99:276,0,358	6	0	1	0
chr6	118894981	118894989	GCGACCCCG	-	exonic	MCM9	.	nonframeshift deletion	MCM9:NM_001378365:exon8:c.1487_1495del:p.P496_S498del	Ovarian dysgenesis 4, Autosomal recessive	1104	410	3	5	0	13	0.0156062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00998403	.	.	.	.	.	.	.	.	0.00146	38	26028	rs199897142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0075	0.0075	0.0075	0.0076	0.0286	0.0072	0.0070	0.0247	0.0232	0.0020	0	0.0096	0.0133	0.0056	0.0013	0.0274	0.0098	0.0062	0.0286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	166.79	.	chr6	118894980	.	AGCGACCCCG	A	166.79	.	AC=2;AF=0.25;AN=8;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=27.95;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,4:4:12:180,12,0	3	1	0	3
chr6	131620645	131620645	C	A	exonic	MED23	.	nonsynonymous SNV	MED23:NM_001270521:exon7:c.G580T:p.G194C,MED23:NM_001270522:exon7:c.G580T:p.G194C,MED23:NM_001376517:exon7:c.G580T:p.G194C,MED23:NM_001376518:exon7:c.G508T:p.G170C,MED23:NM_001376519:exon7:c.G580T:p.G194C,MED23:NM_001376520:exon7:c.G580T:p.G194C,MED23:NM_001376521:exon7:c.G580T:p.G194C,MED23:NM_001376522:exon7:c.G580T:p.G194C,MED23:NM_001376523:exon7:c.G580T:p.G194C,MED23:NM_001376524:exon7:c.G580T:p.G194C,MED23:NM_004830:exon7:c.G580T:p.G194C,MED23:NM_015979:exon7:c.G580T:p.G194C	Mental retardation, autosomal recessive 18, Autosomal recessive	19	1502	1	0	0	1	0.000332779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.113463627338	.	.	8.31e-06	0	0	0	0	1.511e-05	0	0	6.5e-06	1	154602	rs201372314	7.537e-06	7.525e-06	2.727e-06	1.239e-05	0.0002	4.04e-06	2.96e-06	3.1e-06	2.24e-06	0	0	3.829e-05	0	0	0.0002	7.206e-06	0	1.16e-05	6.578e-06	6.569e-06	0	1.347e-05	6.557e-05	0	0	.	.	0	0	6.557e-05	0	0	0	0	0	0	0	0.02	0.50132	D	0.031	0.59159	D	0.997	0.90584	D	0.818	0.88582	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0	0.06538	N	-1.08	0.77078	T	-1.69	0.50502	N	0.883	0.88137	-0.1036	0.80016	T	0.401	0.75230	T	10	0.77302897	0.77235	D	0.113464	0.79198	D	0.505	0.78662	0.377	0.39156	0.709341982931	0.70680	0.791310824283721	0.79083	0.615115748382	0.56003	0.796740949154	0.81467	T	0.369568	0.73426	T	0.330199	0.85180	D	0.236531	0.84985	D	0.618167579174042	0.37131	D	0.950605	0.88539	D	0.3991597	0.60674	0.20479648	0.44620	0.3991597	0.60675	0.20479648	0.44619	-4.58	0.32159	T	.	.	0.341	0.64150	A	.;.;.;.;.;.	.;.;.;.;.;.	5.167959	0.86617	29.0	0.99616976442349814	0.75172	0.99636	0.98212	D	AEFBI	0.910620	0.86878	D	0.581970311938036	0.72050	5.745098	0.644585974875983	0.78208	6.830182	0.999999998014974	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.568000	0.81546	7.637000	0.63009	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.450	0.94856	844	0.36711	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	124.83	20	chr6	131620645	.	C	A	124.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.55;DP=137;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=58.9;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.865;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,6:15:99:135,0,196	6	0	1	0
chr6	136372632	136372632	G	A	exonic	MAP7	.	nonsynonymous SNV	MAP7:NM_001198609:exon8:c.C835T:p.R279C	.	434	1072	15	1	0	17	0.00786673	0.7399	0.674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.00119808	0.0009	0	8.64e-05	0	0	0.0003	0.0011	0.0054	0.0007762	120	154602	rs201467716	0.0005	0.0005	0.0003	0.0006	0.0056	0.0004	0.0004	0.0052	0.0051	0	6.708e-05	0.0002	5.038e-05	0	0.0036	0.0001	0.0005	0.0056	0.0003	0.0003	0.0003	0.0003	0.0066	0.0002	0.0002	0.0048	0.0042	2.405e-05	0	0	0.0003	0	0	0.0102	0.0002	0	0.0066	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.703	0.70702	.	.	.	.	.	.	.	0.014386743	0.00303	T	.	.	.	.	.	.	.	0.620838506629	0.61777	0.424079075152749	0.42324	.	.	0.685151934624	0.65009	T	0.243016	0.61187	T	-0.132257	0.31133	T	0.0395804	0.72901	D	.	.	.	0.954105	0.82551	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878	0.81362	P	.	.	2.521226	0.32578	19.08	0.97535319160395095	0.34480	0.96901	0.71559	D	AEFDBCI	.	.	.	.	.	.	.	.	.	0.999999999861047	0.74766	0.156188	0.03335	0	0.085267	0.02369	0	0.231514	0.04749	0	0.075334	0.01956	0	0.987021	0.95354	5.81	5.81	0.92413	8.091000	0.89354	9.869000	0.82114	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.075	0.97738	741	0.52966	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.018939	0.07143	1008.46	34	chr6	136372632	.	G	A	1008.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.443;DP=275;ExcessHet=0;FS=1.655;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.378;SOR=0.528	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1019,0,1294	6	0	1	0
chr6	138404520	138404520	C	T	exonic	HEBP2	.	nonsynonymous SNV	HEBP2:NM_001326381:exon1:c.C25T:p.P9S,HEBP2:NM_014320:exon1:c.C25T:p.P9S	.	444	1067	11	0	0	11	0.00512821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	0.000998403	0.0114	0	0	0	.	0.0577	.	0.0037	0.0004592	71	154602	rs534012762	0.0057	0.0049	0.0059	0.0056	0.0063	0.0056	0.0056	0.0062	0.0061	0.0009	0.0014	0.0073	3.705e-05	0.0015	0.0059	0.0063	0.0052	0.0028	0.0036	0.0036	0.0038	0.0034	0.0048	0.0034	0.0033	0.0044	0.0042	0.0012	0.0833	0.0022	0.0063	0	0.0024	0.0034	0.0048	0.0019	0.0029	0.331	0.13088	T	0.535	0.11586	T	0.0	0.02946	B	0.0	0.01387	B	0.488886	0.05024	N	1.355200	1	0.08975	N	0.69	0.16971	N	.	.	.	0.23	0.04613	N	0.081	0.06454	-0.9953	0.31218	T	0.011	0.04181	T	10	0.0024902225	0.00037	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.4642122900808919	0.46340	0.0449599093349	0.04864	0.670815944672	0.62954	T	0.008932	0.08161	T	-0.620581	0.00109	T	-0.665036	0.07931	T	0.0324723263188649	0.02384	T	0.430757	0.11694	T	0.023709381	0.01135	0.050705973	0.08014	0.023709381	0.01135	0.050705973	0.08013	-3.704	0.19377	T	.	.	0.076	0.05890	B	.;.	.;.	0.255849	0.06345	2.809	0.90006153036151082	0.19296	0.02469	0.06929	N	ALL	0.035778	0.04661	N	-1.34913558973648	0.03134	0.1395019	-1.37821957523217	0.03485	0.1626643	0.999999971033769	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.92	1.03	0.19161	-0.105000	0.10876	0.131000	0.15046	-0.295000	0.06246	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.1702:0.5046:0.2109:0.1143	2.552	0.04462	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001276	0.000000	0.000000	0.004808	0.000000	0.000000	0.000000	0.000000	0.1667	684.93	16	chr6	138404520	.	C	T	684.93	.	AC=2;AF=0.167;AN=12;DP=126;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;QD=32.62;SOR=1.828	GT:AD:DP:GQ:PL	1/1:0,21:21:63:704,63,0	5	1	0	1
chr6	159236263	159236263	A	G	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon12:c.A4016G:p.N1339S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.00944474300348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.139	0.33666	T	0.976	0.58310	D	0.609	0.51053	P	0.001223	0.39743	N	0.247530	0.990054	0.41078	D	2.455	0.71248	M	2.95	0.09635	T	-1.79	0.42191	N	0.418	0.45803	-1.0701	0.09391	T	0.031	0.13286	T	10	0.2499285	0.42312	T	0.009445	0.24739	T	0.079	0.23065	0.231	0.15855	0.512942373286	0.50937	0.2464024205292192	0.24554	0.126849110582	0.14296	0.308727443218	0.11715	T	0.016797	0.13813	T	-0.213881	0.18835	T	-0.545001	0.17808	T	0.799837350845337	0.46342	D	0.735426	0.35200	T	0.07532811	0.16965	0.108654074	0.26175	0.07532811	0.16965	0.108654074	0.26175	-3.384	0.14842	T	.	.	0.074	0.04889	B	.	.	2.403046	0.30876	18.57	0.99465963747578701	0.66049	0.90263	0.51301	D	AEFDBI	0.617310	0.60354	D	0.322582616924712	0.57309	3.897794	0.307234494736572	0.55963	3.759278	0.128519375027603	0.17041	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.09	3.89	0.44098	3.526000	0.53265	5.012000	0.46677	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8569:0.0:0.0:0.1431	11.088	0.47317	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1134.53	37	chr6	159236263	.	A	G	1134.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.403;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.35;ReadPosRankSum=-0.778;SOR=0.716	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1145,0,835	6	0	1	0
chr6	167969861	167969861	G	C	exonic	AFDN	.	nonsynonymous SNV	AFDN:NM_001207008:exon32:c.G5158C:p.G1720R,AFDN:NM_001291964:exon33:c.G5272C:p.G1758R,AFDN:NM_001366319:exon33:c.G5395C:p.G1799R,AFDN:NM_001366320:exon33:c.G5401C:p.G1801R,AFDN:NM_001366321:exon33:c.G5380C:p.G1794R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0729701386679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.31	0.66127	M	1.75	0.37405	T	-2.83	0.60188	D	0.638	0.81459	-0.5680	0.66095	T	0.310	0.68066	T	10	0.40512133	0.55839	T	0.07297	0.71670	D	0.339	0.66106	0.205	0.12076	0.0934897674506	0.08844	0.2055390791248662	0.20470	.	.	0.724009692669	0.70632	T	0.06749	0.90084	T	0.0590627	0.59496	T	-0.152937	0.58983	T	0.998597204685211	0.94592	D	0.985601	0.97476	D	0.6287985	0.74234	0.7025064	0.82467	0.6287985	0.74235	0.7025064	0.82468	-5.807	0.44635	T	.	.	0.965	0.89712	P	.;.;.;.;.	.;.;.;.;.	4.644820	0.73984	26.1	0.99932203485745685	0.99439	0.99270	0.93736	D	AEFDBI	0.936670	0.93334	D	0.529026191356165	0.68813	5.269258	0.581455114840993	0.73612	5.99887	0.999999999995582	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.26	5.26	0.73479	9.312000	0.95349	9.835000	0.81886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.224	0.93795	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	536.83	36	chr6	167969861	.	G	C	536.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.501;DP=207;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.928;SOR=0.605	GT:AD:DP:GQ:PL	0/1:22,25:47:99:547,0,503	6	0	1	0
chr6	170561958	170561958	-	CAGCAG	exonic	TBP	.	nonframeshift insertion	TBP:NM_001172085:exon2:c.162_163insCAGCAG:p.Q75_A76insQQ,TBP:NM_003194:exon3:c.222_223insCAGCAG:p.Q95_A96insQQ	Spinocerebellar ataxia 17, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	439062	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0008	9.758e-05	0.0005	0	0.0004	0.0015	0.0032	0.0001153	3	26028	rs775224229	0.0048	0.0050	0.0046	0.0050	0.0104	0.0047	0.0046	0.0098	0.0096	0.0037	0.0034	0.0005	0.0060	0.0011	0.0038	0.0046	0.0054	0.0104	0.0042	0.0045	0.0045	0.0039	0.0130	0.0039	0.0038	0.0103	0.0094	0.0039	0	0.0035	0	0.0085	0.0009	0	0.0044	0.0030	0.0130	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1999.19	83	chr6	170561958	.	A	ACAGCAG	1999.19	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.75;DP=757;ExcessHet=0.3476;FS=0.678;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-1.693;SOR=0.598	GT:AD:DP:GQ:PL	0/1:33,31:64:99:1012,0,2130	6	0	1	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	235.98	5	chr7	290725	.	C	G	235.98	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.189;DP=159;ExcessHet=2.5225;FS=183.453;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=1.23;SOR=7.742	GT:AD:DP:GQ:PL	0/1:14,13:27:97:97,0,159	3	0	4	0
chr7	5967064	5967064	G	A	exonic	RSPH10B;RSPH10B2	.	nonsynonymous SNV	RSPH10B2:NM_001099697:exon3:c.C53T:p.S18F,RSPH10B:NM_173565:exon3:c.C53T:p.S18F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0598829145343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.004	0.74150	D	0.988	0.62325	D	0.694	0.53938	P	0.294475	0.03915	N	1.583530	0.960321	0.26151	N	1.995	0.54099	M	0.42	0.56937	T	-2.46	0.53736	N	0.237	0.26717	-0.8529	0.51767	T	0.293	0.66431	T	10	0.2821738	0.45796	T	0.059883	0.67815	D	0.250	0.55888	0.325	0.30711	0.537034694273	0.53353	0.3054105595686339	0.30454	.	.	0.510692000389	0.40320	T	0.021555	0.16767	T	-0.0749431	0.40534	T	-0.345427	0.39727	T	0.77496212720871	0.44740	D	0.740526	0.35940	T	0.10139629	0.23952	0.15439272	0.36238	0.10139629	0.23951	0.15439272	0.36237	-6.557	0.50724	T	.	.	0.096	0.18331	B	.;.;.	.;.;.	2.932783	0.38970	20.9	0.99664102506800933	0.78138	0.36593	0.25568	N	AEFGI	0.159015	0.28475	N	-0.089195827682142	0.37865	2.209233	-0.216554733827431	0.30941	1.746601	0.0213613938495533	0.13342	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.48	4.6	0.56512	2.271000	0.43023	7.129000	0.57618	-0.852000	0.02700	0.076000	0.22236	1.000000	0.68203	0.008000	0.08271	0.0783:0.0:0.9217:0.0	13.039	0.58292	878	0.29785	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	34.28	25	chr7	5967064	.	G	A	34.28	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.258;DP=219;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=26.95;MQRankSum=0;QD=0.61;ReadPosRankSum=2.08;SOR=0.076	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,13:56:42:0|1:5967064_G_A:42,0,1613:5967064	3	0	1	3
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	104.19	34	chr7	27094574	.	GACCC	G	104.19	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.408;DP=474;ExcessHet=0.3476;FS=149.023;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=2.76;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,30:162:95:0|1:27094574_GACCC_G:95,0,4993:27094574	5	0	2	0
chr7	27094578	27094578	-	GAGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCTC:p.E290Dfs*128	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	110.18	34	chr7	27094578	.	C	CGAGG	110.18	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.351;DP=461;ExcessHet=0;FS=150.595;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=2.71;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,30:161:98:0|1:27094574_GACCC_G:98,0,4969:27094574	6	0	1	0
chr7	32543202	32543202	A	G	exonic	AVL9	.	nonsynonymous SNV	AVL9:NM_015060:exon2:c.A155G:p.E52G	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0205400783319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.215	0.32355	T	0.998	0.73220	D	0.947	0.68407	D	0.000000	0.84330	D	0.043747	1	0.81001	D	2.555	0.74557	M	0.88	0.46028	T	-2.38	0.52451	N	0.509	0.55280	-0.8356	0.52937	T	0.215	0.57652	T	10	0.420497	0.56831	T	0.02054	0.43156	T	0.168	0.42943	0.43	0.47843	0.718990368013	0.71651	0.34028687488489134	0.33941	0.297899254872	0.32168	0.633121788502	0.57588	T	0.056782	0.30384	T	0.0340375	0.56260	T	-0.188884	0.55695	T	0.94720321893692	0.62631	D	0.915608	0.70674	D	0.27754948	0.50812	0.38207528	0.63202	0.27754948	0.50812	0.38207528	0.63202	-6.504	0.50317	T	.	.	0.121	0.29255	B	.;.;.	.;.;.	3.816084	0.55073	23.6	0.99877788657731204	0.95410	0.98423	0.82623	D	AEFBI	0.861915	0.78008	D	0.675193177719579	0.78006	6.785576	0.691803542014254	0.81756	7.601711	0.999999999109153	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	7.450000	0.79716	9.275000	0.79667	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	16.050	0.80553	710	0.56735	AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain;AVL9/DENND6 domain|Tripartite DENN domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	2132.45	33	chr7	32543202	.	A	G	2132.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.89;DP=369;ExcessHet=0;FS=1.816;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.657;SOR=0.598	GT:AD:DP:GQ:PL	0/1:92,91:183:99:2143,0,2000	6	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	66.5	51	chr7	43624718	.	C	G	66.5	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.053;DP=504;ExcessHet=0;FS=249.381;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.95;SOR=9.811	GT:AD:DP:GQ:PL	0/1:42,21:70:76:76,0,778	5	0	1	1
chr7	47829595	47829595	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6565G:p.L2189V	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00127835857952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	0.06381	T	0.161	0.31326	T	0.067	0.23653	B	0.015	0.17295	B	0.800789	0.06768	N	1.139820	1	0.08975	N	1.32	0.33002	L	2.05	0.20664	T	-0.76	0.21215	N	0.077	0.05162	-0.9874	0.33249	T	0.034	0.14683	T	10	0.047335982	0.04037	T	0.001278	0.01759	T	0.025	0.05312	0.437	0.48993	0.0884992946249	0.08302	0.058640025517176016	0.05805	0.097110365055	0.10970	0.267502307892	0.05817	T	0.053076	0.29342	T	-0.296889	0.08955	T	-0.664237	0.07983	T	0.0382535461650476	0.03377	T	0.442656	0.12286	T	0.04340317	0.06758	0.03085182	0.01594	0.04340317	0.06758	0.03085182	0.01594	-2.84	0.08557	T	0.18439717788962887	0.23915	0.085	0.10352	B	.	.	0.333476	0.07071	3.643	0.89928721472256545	0.19227	0.00981	0.03737	N	AEFDBI	0.033246	0.03905	N	-0.949154353178447	0.09711	0.4608325	-1.01287491586493	0.09502	0.4730853	0.999972890798845	0.50053	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	-2.48	0.06052	-0.913000	0.04150	-0.189000	0.11056	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.901000	0.43729	0.4609:0.1887:0.1891:0.1613	0.856	0.01107	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4	453.83	72	chr7	47829595	.	G	C	453.83	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-2.551;DP=502;ExcessHet=2.5225;FS=302.8;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.904;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,27:91:99:0|1:47829595_G_C:139,0,1397:47829595	1	0	4	2
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1400.92	70	chr7	47829596	.	G	C	1400.92	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=584;ExcessHet=14.2834;FS=320.552;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.96;ReadPosRankSum=0.688;SOR=10.536	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,27:91:99:0|1:47829595_G_C:139,0,1397:47829595	0	0	7	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	512.99	52	chr7	48103309	.	A	G	512.99	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.199;DP=532;ExcessHet=2.5225;FS=97.472;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.37;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,21:116:99:0|1:48103308_C_T:106,0,2826:48103308	3	0	4	0
chr7	76425072	76425072	G	C	exonic	ZP3	.	nonsynonymous SNV	ZP3:NM_001110354:exon1:c.G108C:p.E36D	.	425	1086	11	0	0	11	0.00503894	.	.	.	711134	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.017	0.00335181593025	0.0016	0.00139776	0.0013	0.0005	0.0017	0	0.0004	0.0017	0.0013	0.0006	0.0012354	191	154602	rs117869702	0.0016	0.0016	0.0016	0.0016	0.0021	0.0016	0.0015	0.0018	0.0018	0.0003	0.0017	0.0005	0	7.544e-05	0.0021	0.0019	0.0018	0.0005	0.0013	0.0013	0.0015	0.0010	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0	0.0016	0.0003	0	0	0.0102	0.0020	0.0038	0.0008	0.61	0.05468	T	0.621	0.07419	T	0.167	0.28604	B	0.034	0.22546	B	0.002961	0.00929	U	7.702890	1	0.08975	N	0.345	0.11182	N	2.72	0.11947	T	-0.49	0.15578	N	0.08	0.05542	-1.0213	0.23292	T	0.019	0.07800	T	10	0.004142314	0.00082	T	0.003352	0.07482	T	0.017	0.02790	0.153	0.05648	0.0611884634855	0.05136	0.4025409431445491	0.40170	0.0176017942392	0.01715	0.274346292019	0.06716	T	0.061335	0.31628	T	-0.66491	0.00059	T	-0.733732	0.04160	T	0.00190448069181004	0.00019	T	0.359864	0.08266	T	0.049374644	0.08756	0.03341613	0.02234	0.04887953	0.08589	0.032626167	0.02028	-3.764	0.20268	T	.	.	0.083	0.09385	B	.	.	-0.423906	0.02125	0.202	0.62438009528254401	0.06963	0.05858	0.11803	N	AEFBCI	0.048443	0.08267	N	-1.08615346019405	0.06898	0.3188539	-1.10636979695201	0.07577	0.3691468	0.915779740681297	0.26493	0.608966	0.35542	0	0.681609	0.65952	0	0.608075	0.38828	0	0.586402	0.36253	0	.	.	4.74	0.538	0.16342	-0.129000	0.10493	-0.202000	0.10935	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2649:0.0:0.4272:0.3078	3.311	0.06605	867	0.32089	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	1192.49	34	chr7	76425072	.	G	C	1192.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.57;DP=319;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=1.19;SOR=0.721	GT:AD:DP:GQ:PL	0/1:84,52:136:99:1203,0,1921	6	0	1	0
chr7	85121833	85121833	G	A	exonic	SEMA3D	.	nonsynonymous SNV	SEMA3D:NM_152754:exon2:c.C59T:p.P20L,SEMA3D:NM_001384900:exon3:c.C59T:p.P20L,SEMA3D:NM_001384901:exon4:c.C59T:p.P20L,SEMA3D:NM_001384902:exon5:c.C59T:p.P20L,SEMA3D:NM_001384903:exon5:c.C59T:p.P20L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00426766593785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.711	0.22660	T	0.385	0.16182	T	0.0	0.18885	B	0.0	0.12133	B	0.021167	0.01546	N	2.177800	0.999998	0.08975	N	0.895	0.22405	L	1.58	0.29602	T	-0.65	0.22078	N	0.17	0.20793	-1.0512	0.14064	T	0.035	0.15030	T	10	0.058228105	0.06811	T	0.004268	0.10341	T	0.039	0.10176	0.457	0.52265	0.303123707472	0.29912	0.29724530010430456	0.29637	0.154359173119	0.17432	0.279192626476	0.07380	T	0.004776	0.10082	T	-0.247754	0.14376	T	-0.593658	0.13350	T	0.0375002611655645	0.03244	T	0.626337	0.24237	T	0.03208135	0.03167	0.02702255	0.00826	0.03208135	0.03167	0.02702255	0.00825	-2.782	0.08018	T	.	.	0.110	0.21011	B	.;.	.;.	0.447806	0.08180	4.914	0.58935329383179291	0.06107	0.03668	0.08930	N	AEFI	0.052037	0.09249	N	-1.57219455288948	0.01409	0.06144706	-1.45039530288574	0.02766	0.1278451	9.15126456943786E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.72	0.382	0.15457	0.214000	0.17331	0.042000	0.13882	-1.953000	0.00482	0.242000	0.24768	0.006000	0.19429	0.682000	0.33600	0.1278:0.0723:0.2749:0.525	3.224	0.06326	907	0.22727	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	796.83	40	chr7	85121833	.	G	A	796.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.652;DP=236;ExcessHet=0;FS=0.93;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.449;SOR=0.742	GT:AD:DP:GQ:PL	0/1:29,38:67:99:807,0,596	6	0	1	0
chr7	86913122	86913122	C	T	exonic	ELAPOR2	.	nonsynonymous SNV	ELAPOR2:NM_001291991:exon13:c.G1094A:p.R365H,ELAPOR2:NM_152748:exon13:c.G1313A:p.R438H,ELAPOR2:NM_001142749:exon14:c.G1814A:p.R605H,ELAPOR2:NM_001291990:exon14:c.G1472A:p.R491H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0244298409607	0.0003	0.000399361	0.0001	0.0013	0	0	0	0	0	0	0.0001229	19	154602	rs34772926	6.636e-05	6.635e-05	7.351e-05	5.913e-05	0.0014	5.562e-05	5.153e-05	0.0011	0.0010	0.0014	0	3.826e-05	0	0	0	3.687e-05	8.28e-05	2.319e-05	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	6.543e-05	0	0	0	0	2.94e-05	0	0	0.041	0.41915	D	0.122	0.36901	T	0.562	0.38380	P	0.148	0.34065	B	0.000000	0.84330	D	0.049542	0.999999	0.81001	D	2.31	0.66127	M	-0.01	0.62918	T	-3.02	0.62630	D	0.414	0.45426	-0.7172	0.59600	T	0.220	0.58253	T	10	0.051861763	0.05131	T	0.02443	0.47418	T	0.142	0.37995	.	.	0.743281033396	0.74097	0.36577513173165	0.36491	0.440921022028	0.44089	0.712496995926	0.68955	T	0.17879	0.52957	T	-0.288744	0.09763	T	-0.200768	0.54574	T	0.0988287379943362	0.12228	T	0.863614	0.59649	D	0.28551197	0.51572	0.17004165	0.39084	0.28551197	0.51572	0.17004165	0.39083	-10.271	0.75519	D	.	.	0.086	0.14431	B	.;.	.;.	3.734674	0.53444	23.4	0.99827620472126499	0.90939	0.94365	0.60933	D	AEFBI	0.656516	0.62848	D	0.24567859907788	0.53426	3.511449	0.386718425295093	0.60745	4.265663	0.999995601579713	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	5.82	0.92740	3.651000	0.54172	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	19.087	0.93192	587	0.69154	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2157.49	35	chr7	86913122	.	C	T	2157.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.116;DP=362;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=-0.913;SOR=0.593	GT:AD:DP:GQ:PL	0/1:93,92:185:99:2168,0,2121	6	0	1	0
chr7	87392570	87392570	G	A	exonic	CROT	.	nonsynonymous SNV	CROT:NM_021151:exon15:c.G1430A:p.R477H,CROT:NM_001143935:exon16:c.G1514A:p.R505H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0215550194545	7.7e-05	.	2.486e-05	0	0	0	0	4.501e-05	0	0	3.23e-05	5	154602	rs143648273	2.396e-05	2.394e-05	2.044e-05	2.752e-05	2.992e-05	1.74e-05	1.54e-05	1.831e-05	1.583e-05	2.992e-05	0	0	0	5.622e-05	0	2.61e-05	3.314e-05	0	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.605	0.06482	T	0.242	0.31326	T	0.0	0.02946	B	0.0	0.01387	B	0.793789	0.09377	N	0.920708	1	0.08975	N	-0.345	0.03330	N	-2.47	0.88997	D	0.23	0.04613	N	0.161	0.16864	-0.8019	0.55032	T	0.306	0.67722	T	10	0.04864958	0.04344	T	0.021555	0.44345	T	0.181	0.45247	.	.	0.470648230714	0.46691	0.21276111912570017	0.21192	0.0280943625436	0.02891	0.25726544857	0.04571	T	0.157111	0.49956	T	-0.199358	0.20898	T	-0.460494	0.26544	T	0.0253573656091305	0.01319	T	0.153985	0.01332	T	0.032527722	0.03296	0.027917309	0.00982	0.032527722	0.03296	0.027917309	0.00982	-3.746	0.20178	T	.	.	0.076	0.09336	B	.;.;.	.;.;.	0.935672	0.13111	9.613	0.94730922508788518	0.25412	0.02248	0.06514	N	AEFBCI	0.023082	0.01239	N	-1.35838131949002	0.03039	0.135135	-1.29357012663565	0.04516	0.2132274	0.997441788427386	0.35625	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.93	-2.24	0.06518	-0.037000	0.12116	-0.212000	0.10844	-0.529000	0.04963	0.000000	0.06391	0.000000	0.08366	0.817000	0.38496	0.4057:0.118:0.1596:0.3167	1.235	0.01834	488	0.76887	.;Choline/carnitine acyltransferase domain;Choline/carnitine acyltransferase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	158.27	21	chr7	87392570	.	G	A	158.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.06;DP=116;ExcessHet=0;FS=2.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.19;ReadPosRankSum=2.14;SOR=1.609	GT:AD:DP:GQ:PL	0/1:16,6:22:99:168,0,393	5	0	1	1
chr7	90310080	90310080	G	A	exonic	CFAP69	.	nonsynonymous SNV	CFAP69:NM_001363438:exon22:c.G2470A:p.G824R,CFAP69:NM_001039706:exon23:c.G2668A:p.G890R,CFAP69:NM_001160138:exon23:c.G2614A:p.G872R	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00386627355261	0.0004	0.000199681	0.0004	0	8.67e-05	0	0	0.0005	0.0011	0.0012	0.0003493	54	154602	rs201625526	0.0005	0.0005	0.0005	0.0006	0.0019	0.0005	0.0005	0.0011	0.0009	2.998e-05	0.0003	0	0	0	0.0019	0.0005	0.0006	0.0011	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0005	0.0004	7.223e-05	0	0.0003	0	0	0	0	0.0006	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.944057	0.08333	N	0.972735	1	0.08975	N	.	.	.	2.8	0.18248	T	1.7	0.00577	N	0.038	0.02272	-1.0256	0.21886	T	0.027	0.11707	T	10	0.0074765086	0.00170	T	0.003866	0.09055	T	0.111	0.31313	0.222	0.14518	0.139678290688	0.13603	0.27675138432635393	0.27588	0.0754644379906	0.08464	.	.	.	0.003066	0.02464	T	-0.525898	0.00406	T	-0.573744	0.15107	T	0.0133493159871707	0.00241	T	0.683432	0.29780	T	0.060298074	0.12356	0.056946788	0.10265	0.060298074	0.12356	0.056946788	0.10264	-4.278	0.27867	T	.	.	0.068	0.04847	B	.;.;.	.;.;.	0.940449	0.13162	9.662	0.61929256494775453	0.06833	0.08978	0.14823	N	AEFBHCI	0.096012	0.19390	N	-1.02400662387101	0.08108	0.3790012	-1.05416468328895	0.08620	0.4247442	0.00652563335536015	0.11241	0.656854	0.48797	0	0.588015	0.36545	0	0.67347	0.61138	0	0.699908	0.69081	0	.	.	5.61	-1.25	0.08920	0.041000	0.13813	0.310000	0.17073	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.0945:0.3926:0.5129:0.0	16.098	0.80953	706	0.57215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	110.63	24	chr7	90310080	.	G	A	110.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.366;DP=143;ExcessHet=0;FS=2.307;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.17;SOR=1.721	GT:AD:DP:GQ:PL	0/1:11,5:16:99:121,0,307	6	0	1	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	842.65	124	chr7	93102965	.	C	G	842.65	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.562;DP=900;ExcessHet=4.7409;FS=139.643;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.148;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,23:162:34:.:.:34,0,5115:.	2	0	5	0
chr7	97006052	97006054	GCA	-	exonic	DLX6	.	nonframeshift deletion	DLX6:NM_005222:exon1:c.75_77del:p.Q44del	.	293	1205	4	0	20	24	0.001657	.	.	.	1606452	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.0786	.	0.0075	0.0084	0.0108	0.0103	0.0017	0.0085	0.0130	0.0040	0.0031047	480	154602	rs748226556	0.0003	0.0046	0.0003	0.0004	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0.0008	0.0002	0.0007	0.0013	0	0.0002	0.0003	0.0004	0.0003	0.0005	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	0.0010	0	0.0003	0	0	0	0	5.938e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	120.59	41	chr7	97006051	.	GGCA	G	120.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.265;DP=322;ExcessHet=0;FS=1.461;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=0.068;SOR=0.406	GT:AD:DP:GQ:PL	0/1:68,8:76:99:131,0,2809	6	0	1	0
chr7	99425018	99425018	G	A	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.C1514T:p.S505F,ATP5MF-PTCD1:NM_001198879:exon7:c.C1661T:p.S554F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0042	0.0061901	0.0016	0.0179	0.0007	0	0	2.999e-05	0	6.056e-05	0.0015265	236	154602	rs114157830	0.0005	0.0005	0.0006	0.0004	0.0169	0.0004	0.0004	0.0157	0.0153	0.0169	0.0009	0	0	0	0.0017	8.093e-06	0.0011	4.637e-05	0.0048	0.0048	0.0051	0.0044	0.0168	0.0045	0.0044	0.0158	0.0153	0.0168	0	0.0017	0	0	0	0.0034	2.94e-05	0.0009	0	0.005	0.63226	D	0.004	0.79402	D	0.101	0.32148	B	0.029	0.30945	B	0.150193	0.17994	N	0.633028	0.999997	0.08975	N	1.785	0.46417	L	-0.16	0.65378	T	-3.84	0.72240	D	0.485	0.51940	-0.8199	0.53940	T	0.132	0.44347	T	10	0.0044365525	0.00091	T	.	.	.	0.147	0.38986	.	.	0.698248465636	0.69564	0.5554902043464525	0.56065	0.122675384603	0.13820	0.352527111769	0.18294	T	0.11748	0.43759	T	-0.404041	0.02178	T	-0.338873	0.40472	T	0.0413912996286439	0.03943	T	0.706929	0.31753	T	0.11671954	0.27527	0.16837221	0.38792	0.11671954	0.27527	0.16837221	0.38792	-9.065	0.68114	D	.	.	0.165	0.38587	B	.;.	.;.	2.593035	0.33639	19.40	0.94796206704475572	0.25540	0.87620	0.47219	D	AEFDGBI	0.251273	0.37117	N	-0.134613949866127	0.35891	2.067427	-0.0944141031714175	0.35620	2.063011	0.0240854141956207	0.13554	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.58	3.63	0.40741	3.682000	0.54389	4.328000	0.43018	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.7275:0.2725	14.188	0.65160	400	0.82730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1553.45	34	chr7	99425018	.	G	A	1553.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.63;DP=309;ExcessHet=0;FS=3.203;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.01;SOR=0.464	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1564,0,1698	6	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	2724.34	52	chr7	100175805	.	G	C	2724.34	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.575;DP=381;ExcessHet=11.5949;FS=744.254;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=7.34;ReadPosRankSum=0.751;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,33:78:99:0|1:100175805_G_C:757,0,1380:100175805	0	0	6	1
chr7	100359506	100359506	C	0	exonic	PILRB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1730.04	34	chr7	100359506	.	C	*	1730.04	.	AC=2;AF=0.143;AN=14;DP=419;ExcessHet=0;FS=10.23;MLEAC=2;MLEAF=0.143;MQ=60;QD=6.98;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,51:109:99:1|0:100359505_GCCT_G:3710,1743,2215:100359505	5	0	2	0
chr7	100600615	100600615	C	T	exonic	FBXO24	.	nonsynonymous SNV	FBXO24:NM_001163499:exon10:c.C1423T:p.P475S,FBXO24:NM_012172:exon10:c.C1573T:p.P525S,FBXO24:NM_033506:exon10:c.C1459T:p.P487S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00561976298177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.05436	T	0.142	0.33330	T	0.0	0.02946	B	0.0	0.01387	B	0.874852	0.08798	N	0.928067	1	0.08975	N	-0.55	0.02420	N	2.61	0.13095	T	0.37	0.06612	N	0.042	0.03841	-0.9481	0.41296	T	0.010	0.03492	T	10	0.061481148	0.07716	T	0.00562	0.14530	T	0.038	0.09825	0.322	0.30226	0.238096912614	0.23440	0.2424141499251971	0.24155	0.324307487703	0.34596	0.281518369913	0.07705	T	0.008944	0.08179	T	-0.372168	0.03486	T	-0.77237	0.02691	T	0.0345776158772276	0.02735	T	0.530047	0.17581	T	0.025262954	0.01445	0.035651606	0.02858	0.025262954	0.01444	0.035651606	0.02858	-2.963	0.10213	T	.	.	0.067	0.02518	B	.;.;.	.;.;.	0.110685	0.05102	1.635	0.4261040687661124	0.03153	0.01156	0.04174	N	AEFDGBHCI	0.039119	0.05636	N	-1.64576967374373	0.01053	0.04568766	-1.67791211091846	0.01238	0.05579344	0.999999613348979	0.74766	0.696267	0.57585	0	0.61073	0.52368	0	0.691665	0.62940	0	0.638833	0.57524	0	.	.	4.44	-5.49	0.02381	-0.337000	0.07898	0.145000	0.15222	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2742:0.2356:0.2165:0.2738	0.069	0.00018	.	.	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1233.49	40	chr7	100600615	.	C	T	1233.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.28;DP=296;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.991;SOR=0.693	GT:AD:DP:GQ:PL	0/1:62,46:108:99:1244,0,1655	6	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1021.11	81	chr7	100773851	.	A	*	1021.11	.	AC=5;AF=0.357;AN=14;DP=423;ExcessHet=0.0509;FS=2.771;MLEAC=5;MLEAF=0.357;MQ=60;QD=3.04;SOR=0.878	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,52:99:99:0|1:100773851_A_G:4036,1292,1025:100773851	3	1	3	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7523.85	81	chr7	100773854	.	G	*	7523.85	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.191;DP=415;ExcessHet=0.0509;FS=2.784;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=22.59;ReadPosRankSum=0.979;SOR=0.871	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,45:97:99:0|1:100773849_CCAT_C:3993,1518,1251:100773849	6	0	1	0
chr7	100779637	100779637	T	C	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.T6509C:p.L2170P,ZAN:NM_173059:exon35:c.T6509C:p.L2170P	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.435	0.0377026232165	0.0017	0.00159744	0.0022	0.0005	0.0034	0	0	0.0033	0.0026	0.0007	0.0014165	219	154602	rs200445201	0.0025	0.0025	0.0025	0.0025	0.0030	0.0024	0.0024	0.0029	0.0028	0.0004	0.0016	0.0002	0	0.0005	0.0005	0.0030	0.0022	0.0007	0.0016	0.0016	0.0017	0.0014	0.0026	0.0014	0.0013	0.0023	0.0022	0.0005	0	0.0019	0.0014	0	0.0005	0	0.0026	0.0014	0.0004	.	.	.	0.043	0.50226	D	0.995	0.67487	D	0.954	0.69447	D	0.085848	0.20619	N	0.227351	0.999577	0.47641	D	.	.	.	.	.	.	.	.	.	0.648	0.74826	0.101	0.84200	D	0.569	0.84381	D	8	0.10350874	0.19032	T	0.037703	0.57781	D	0.435	0.74022	.	.	0.154104182512	0.14974	0.868534103402236	0.86818	0.11157287078	0.12596	0.353435486555	0.18427	T	0.143187	0.47918	T	-0.054918	0.43696	T	0.146548	0.79966	D	0.154377065536279	0.17447	T	0.517648	0.16760	T	0.42120755	0.62172	0.51485413	0.71968	0.42120755	0.62172	0.51485413	0.71968	-9.149	0.68651	D	.	.	0.635	0.70329	P	.;.;.;.	.;.;.;.	3.006094	0.40184	21.1	0.98276328675351599	0.39814	0.92232	0.55241	D	AEFBI	0.702745	0.65901	D	0.325512044734291	0.57460	3.913542	0.248544819340018	0.52566	3.430699	0.00724413297462812	0.11420	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	4.17	0.48303	5.534000	0.66879	2.705000	0.34191	0.661000	0.55757	1.000000	0.71638	0.999000	0.35428	0.162000	0.20715	0.0:0.0:0.0:1.0	9.928	0.40672	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	927.46	33	chr7	100779637	.	T	C	927.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.21;DP=300;ExcessHet=0;FS=0.928;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-1.045;SOR=0.866	GT:AD:DP:GQ:PL	0/1:34,35:69:99:938,0,764	6	0	1	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1756.07	430	chr7	100952945	.	C	*	1756.07	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.443;DP=3462;ExcessHet=14.2834;FS=0;MLEAC=5;MLEAF=0.357;MQ=58.69;MQRankSum=-8.839;QD=0.51;ReadPosRankSum=1.96;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:476,103:662:99:0|1:100952942_T_G:2892,0,19677:100952942	2	0	5	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2524.47	366	chr7	100953156	.	C	*	2524.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=5.53;DP=2898;ExcessHet=14.2834;FS=12.235;MLEAC=5;MLEAF=0.357;MQ=57.21;MQRankSum=-14.31;QD=0.88;ReadPosRankSum=-1.217;SOR=1.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:358,135:565:99:0|1:100953098_G_C:4591,0,14626:100953098	2	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	1571.47	359	chr7	100953158	.	G	*	1571.47	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.2;DP=2855;ExcessHet=14.2834;FS=12.608;MLEAC=5;MLEAF=0.357;MQ=57.2;MQRankSum=-14.61;QD=0.57;ReadPosRankSum=-1.192;SOR=1.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:356,124:550:99:.:.:4135,0,14575:.	2	0	5	0
chr7	100991105	100991105	C	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.C542T:p.P181L	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0101217068159	0.0011	0.00139776	0.0008	0	0.0026	0	0	0.0015	0.0042	0.0004	0.000511	79	154602	rs117301718	0.0025	0.0024	0.0026	0.0025	0.0030	0.0025	0.0024	0.0029	0.0029	0.0004	0.0012	0.0006	0	0.0003	0.0007	0.0030	0.0024	0.0004	0.0017	0.0017	0.0018	0.0015	0.0028	0.0015	0.0015	0.0025	0.0024	0.0005	0	0.0018	0.0017	0	0.0004	0	0.0028	0.0014	0.0004	0.009	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	2.47	0.14907	T	-1.19	0.30346	N	0.117	0.10626	-0.9837	0.34140	T	0.018	0.07612	T	7	0.0057303905	0.00128	T	0.010122	0.26280	T	0.106	0.30130	.	.	0.137902524267	0.13322	0.02362065669491372	0.02314	.	.	0.445095092058	0.31273	T	0.00341	0.02819	T	-0.645631	0.00077	T	-0.700325	0.05808	T	0.0169852373591272	0.00448	T	0.415458	0.11436	T	0.037568357	0.04840	0.04749011	0.06851	0.037568357	0.04840	0.04749011	0.06851	-6.652	0.52826	T	.	.	0.238	0.47239	B	.;.	.;.	0.919854	0.12949	9.454	0.94385416824696866	0.24761	0.01120	0.04086	N	AEFDBI	0.045510	0.07451	N	-0.897958852218374	0.10890	0.5227181	-1.08383439985478	0.08019	0.3924495	1.18745582810711E-5	0.02871	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	0.938000	0.28562	-0.998000	0.06656	0.415000	0.20742	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.4896:0.51:2.0E-4:2.0E-4	2.943	0.05480	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	4303.44	33	chr7	100991105	.	C	T	4303.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=570;ExcessHet=0;FS=1.693;MLEAC=1;MLEAF=0.071;MQ=59.95;MQRankSum=0;QD=11.57;ReadPosRankSum=0.327;SOR=0.8	GT:AD:DP:GQ:PL	0/1:195,177:372:99:4314,0,4654	6	0	1	0
chr7	101002321	101002321	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G11758A:p.E3920K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	.	.	0.0015	0.0162	0.0057	0	0	0	0	0	3.84e-05	1	26028	rs750395168	2.457e-05	0.0003	2.569e-05	2.343e-05	0.0006	1.769e-05	1.561e-05	0.0004	0.0003	0.0006	5.614e-05	0	0	0	0	1.02e-05	3.452e-05	2.526e-05	0.0003	0.0041	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0002	0	0	9.441e-05	0	1.472e-05	0	0	0.157	0.23997	T	0.235	0.24767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.67	0.12473	T	-1.0	0.29114	N	0.06	0.03726	-0.9407	0.42505	T	0.013	0.04985	T	7	0.0065083206	0.00147	T	.	.	.	0.011	0.01250	.	.	0.0138822411134	0.00435	0.05489492383970703	0.05430	.	.	0.487518370152	0.37095	T	0.003211	0.02616	T	-0.367651	0.03714	T	-0.765882	0.02906	T	0.00772333085545986	0.00090	T	0.313269	0.06459	T	0.037175387	0.04717	0.04436823	0.05732	0.037175387	0.04716	0.04436823	0.05732	-7.191	0.55416	T	.	.	0.138	0.44306	B	.;.	.;.	0.655722	0.10239	6.978	0.50717218174487255	0.04433	0.00272	0.01477	N	AEFI	0.041724	0.06380	N	-1.21496333261071	0.04782	0.2165691	-1.39305193881434	0.03325	0.1548949	1.73634786069107E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.471	-0.942	0.09869	-1.442000	0.02514	-2.120000	0.04183	0.327000	0.19478	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.6508:0.3491:1.0E-4	5.638	0.16827	818	0.41518	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004425	0.008621	0.012195	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	820.44	38	chr7	101002321	.	G	A	820.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=7.53;DP=819;ExcessHet=0;FS=8.346;MLEAC=1;MLEAF=0.071;MQ=34.05;MQRankSum=-0.794;QD=1.97;ReadPosRankSum=0.816;SOR=1.558	GT:AD:DP:GQ:PL	0/1:349,68:417:99:831,0,8618	6	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.2	748.55	155	chr7	128479325	.	T	C	748.55	.	AC=2;AF=0.2;AN=10;BaseQRankSum=2.83;DP=1025;ExcessHet=0.3476;FS=35.645;MLEAC=2;MLEAF=0.2;MQ=57.57;MQRankSum=-12.81;QD=1.79;ReadPosRankSum=-2.486;SOR=4.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,22:189:99:0|1:128479325_T_C:417,0,6832:128479325	3	0	2	2
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.2	749.09	155	chr7	128479326	.	G	C	749.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=3.05;DP=1032;ExcessHet=0.3476;FS=35.645;MLEAC=2;MLEAF=0.2;MQ=57.48;MQRankSum=-12.81;QD=1.79;ReadPosRankSum=-2.527;SOR=4.251	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,22:189:99:0|1:128479325_T_C:417,0,6832:128479325	3	0	2	2
chr7	128815780	128815780	A	T	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon16:c.A3212T:p.E1071V,CCDC136:NM_001367764:exon17:c.A3362T:p.E1121V	.	399	1117	6	0	0	6	0.00267857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0057	0.000798722	0.0112	0.0014	0.0079	0	0.0106	0.0177	0	0.0032	0.0051164	791	154602	rs189812175	0.0072	0.0072	0.0073	0.0071	0.0084	0.0071	0.0071	0.0082	0.0082	0.0009	0.0019	0.0077	0	0.0053	0.0066	0.0084	0.0066	0.0024	0.0050	0.0050	0.0055	0.0045	0.0086	0.0047	0.0046	0.0081	0.0078	0.0013	0	0.0024	0.0081	0	0.0038	0.0034	0.0086	0.0047	0.0015	0.003	0.68238	D	0.011	0.64786	D	0.95	0.53885	P	0.648	0.52381	P	0.058715	0.22381	N	0.373916	1	0.18612	N	1.385	0.34509	L	1.23	0.36872	T	-1.19	0.30346	N	0.251	0.28381	-1.0064	0.28034	T	0.102	0.37644	T	10	0.004013747	0.00078	T	.	.	.	0.063	0.18251	.	.	0.350088858571	0.34617	0.2660081045842865	0.26513	0.106303491595	0.12020	0.269780755043	0.06113	T	0.030687	0.21692	T	-0.535231	0.00358	T	-0.535625	0.18728	T	0.0106071016090234	0.00148	T	0.464953	0.13579	T	0.10979737	0.25958	0.053690325	0.09093	0.10979737	0.25957	0.053690325	0.09093	-4.872	0.35419	T	.	.	0.104	0.19032	B	.	.	1.686454	0.21489	15.22	0.98835225411423056	0.47018	0.22014	0.21602	N	AEFDBHCI	0.055115	0.10079	N	-0.341360720557316	0.27591	1.51501	-0.462041797336302	0.23208	1.264442	0.999785897404323	0.43007	0.634777	0.41761	0	0.610034	0.51514	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.79	3.61	0.40494	0.226000	0.17557	0.860000	0.22220	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.8968:0.0:0.1032:0.0	7.544	0.26921	679	0.60090	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006743	0.000000	0.006812	0.014085	0.000000	0.000000	0.006098	0.000000	0.07143	1427.44	39	chr7	128815780	.	A	T	1427.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.427;DP=411;ExcessHet=0;FS=0.695;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.583;SOR=0.602	GT:AD:DP:GQ:PL	0/1:55,61:116:99:1438,0,1474	6	0	1	0
chr7	129205670	129205670	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon4:c.G808A:p.V270I	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	422	1089	11	0	0	11	0.00502513	.	.	.	139008	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.368	.	0.0086	0.00239617	0.0074	0.0011	0.0023	0	0.0056	0.0109	0.0033	0.0058	0.0074191	1147	154602	rs111694017	0.0093	0.0093	0.0093	0.0093	0.0106	0.0091	0.0091	0.0104	0.0104	0.0015	0.0025	0.0096	2.519e-05	0.0064	0.0090	0.0106	0.0081	0.0055	0.0073	0.0073	0.0080	0.0067	0.0117	0.0070	0.0068	0.0110	0.0107	0.0018	0.0669	0.0034	0.0107	0	0.0057	0.0102	0.0117	0.0043	0.0056	1.0	0.00964	T	0.632	0.07150	T	0.047	0.21998	B	0.006	0.12133	B	0.000008	0.62929	D	0.111433	0.999946	0.51968	D	-0.385	0.03041	N	-1.53	0.81559	D	0.26	0.04380	N	0.211	0.23506	-0.7917	0.55630	T	0.156	0.48772	T	10	0.012343407	0.00266	T	.	.	.	0.368	0.68757	.	.	0.7379173449	0.73557	0.2942428290023384	0.29337	0.50681636426	0.48873	0.676300823689	0.63739	T	0.362373	0.72829	T	-0.474194	0.00801	T	-0.442892	0.28485	T	0.0159573050272741	0.00378	T	0.833117	0.50161	T	0.114749916	0.27086	0.060912553	0.11678	0.114749916	0.27085	0.060912553	0.11677	-2.548	0.06118	T	.	.	0.085	0.10111	B	.	.	3.276368	0.44867	22.0	0.86085403290971718	0.16304	0.90625	0.51957	D	AEFDBI	0.259709	0.37800	N	-0.31535562114274	0.28564	1.576571	-0.0367968268644263	0.38066	2.237538	0.787360263019864	0.23954	0.719381	0.83141	0	0.709663	0.81188	0	0.723133	0.82415	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	4.676000	0.61317	11.754000	0.95474	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0758:0.0:0.9242:0.0	13.807	0.62732	714	0.56256	Frizzled/Smoothened, transmembrane domain|Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain|Smoothened, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.010870	0.020468	0.000000	0.017241	0.006098	0.007576	0.07143	2384.44	33	chr7	129205670	.	G	A	2384.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.667;DP=397;ExcessHet=0;FS=2.443;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.201;SOR=0.687	GT:AD:DP:GQ:PL	0/1:97,100:197:99:2395,0,2207	6	0	1	0
chr7	131505995	131505995	G	A	exonic	PODXL	.	nonsynonymous SNV	PODXL:NM_005397:exon7:c.C1256T:p.P419L,PODXL:NM_001018111:exon8:c.C1352T:p.P451L	.	.	.	.	.	.	.	.	.	.	.	3029114	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.021886012289	0.0005	0.000399361	0.0002	0.0016	0	0	0	0.0001	0	0	0.0001617	25	154602	rs145330930	0.0001	0.0001	0.0001	9.913e-05	0.0019	9.059e-05	8.541e-05	0.0015	0.0013	0.0019	2.246e-05	0	2.522e-05	0	0.0003	6.747e-05	0.0002	0	0.0003	0.0003	0.0003	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	0.002	0.72154	D	0.005	0.72224	D	0.999	0.77913	D	0.926	0.67262	D	0.078317	0.21051	N	0.415166	0.999999	0.08975	N	2.695	0.78878	M	1.96	0.22270	T	-6.43	0.91311	D	0.368	0.42443	-1.0526	0.13682	T	0.100	0.37290	T	10	0.05503884	0.05954	T	0.021886	0.44718	T	0.059	0.16972	.	.	0.445811967706	0.44203	0.5133486217521807	0.51256	0.868922861098	0.69327	0.326033711433	0.14335	T	0.388618	0.74925	T	-0.427786	0.01529	T	-0.42264	0.30773	T	0.250241177120953	0.22884	T	0.827517	0.49766	T	0.14739512	0.33698	0.2715093	0.53052	0.14739512	0.33698	0.2715093	0.53051	-10.032	0.74508	D	.	.	0.461	0.62737	A	.;.	.;.	4.615629	0.73244	26.0	0.99748729910404477	0.84077	0.23769	0.22182	N	AEFDBHCI	0.080956	0.16375	N	0.269194451936082	0.54594	3.624657	0.137494279743119	0.46483	2.893566	0.999958983738795	0.48110	0.67177	0.52595	0	0.550933	0.16991	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.33	3.34	0.37357	2.841000	0.47923	5.496000	0.48760	0.676000	0.76740	0.944000	0.32806	1.000000	0.68203	0.113000	0.18872	0.1059:0.0:0.6402:0.2539	5.199	0.14576	952	0.10565	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	1695.46	38	chr7	131505995	.	G	A	1695.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.691;DP=333;ExcessHet=0;FS=0.662;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.398;SOR=0.581	GT:AD:DP:GQ:PL	0/1:58,72:130:99:1706,0,1242	6	0	1	0
chr7	139231951	139231951	G	C	exonic	UBN2	.	nonsynonymous SNV	UBN2:NM_173569:exon1:c.G467C:p.R156P	.	414	1099	9	0	0	9	0.00407793	0.2541	0.448	.	710819	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0065	0.00519169	0.0075	0.0011	0.0062	0.0001	0.0105	0.0108	0.0074	0.0019	0.0070504	1090	154602	rs141209093	0.0084	0.0084	0.0085	0.0084	0.0096	0.0083	0.0083	0.0094	0.0094	0.0010	0.0069	0.0036	2.776e-05	0.0096	0.0078	0.0096	0.0078	0.0019	0.0071	0.0072	0.0074	0.0068	0.0117	0.0068	0.0067	0.0110	0.0107	0.0014	0.0011	0.0067	0.0029	0.0002	0.0086	0.0034	0.0117	0.0100	0.0017	0.004	0.65419	D	0.143	0.33219	T	0.876	0.48154	P	0.327	0.41976	B	0.109816	0.19468	N	0.510471	0.999981	0.54805	D	1.24	0.30952	L	1.3	0.35590	T	-1.83	0.42957	N	0.41	0.45047	-0.9811	0.34748	T	0.048	0.20513	T	10	0.006573856	0.00149	T	.	.	.	0.193	0.47281	.	.	0.0675242888579	0.06100	0.1881890492017854	0.18736	0.167797391371	0.18917	0.61440384388	0.54937	T	0.174	0.52374	T	-0.304387	0.08252	T	-0.196381	0.54990	T	0.01703467782003	0.00451	T	0.777822	0.41150	T	0.51757896	0.68120	0.61401516	0.77537	0.51757896	0.68121	0.61401516	0.77538	-2.776	0.07964	T	.	.	0.363	0.57411	A	.	.	4.261129	0.64760	24.7	0.99450904452626188	0.65274	0.85155	0.44264	D	AEFDGBCI	0.872707	0.79469	D	0.308146102837721	0.56565	3.82148	0.316999960761909	0.56540	3.817293	0.99999999995234	0.74766	0.65757	0.49021	0	0.609123	0.50646	0	0.619478	0.44681	0	0.665054	0.64577	0	.	.	3.49	3.49	0.39065	2.880000	0.48228	11.410000	0.92689	0.612000	0.49041	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	15.146	0.72337	917	0.20147	.	.	.	FMC1	Pituitary	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006270	0.005495	0.006831	0.009554	0.000000	0.000000	0.003185	0.000000	0.08333	696.27	36	chr7	139231951	.	G	C	696.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.338;DP=218;ExcessHet=0;FS=2.302;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.025;SOR=0.402	GT:AD:DP:GQ:PL	0/1:24,32:56:99:706,0,490	5	0	1	1
chr7	143720089	143720089	G	A	exonic	TCAF2	.	nonsynonymous SNV	TCAF2:NM_001130026:exon2:c.G538A:p.A180T,TCAF2:NM_001365428:exon2:c.G187A:p.A63T,TCAF2:NM_001363538:exon3:c.G1030A:p.A344T,TCAF2:NM_001365429:exon3:c.G1030A:p.A344T,TCAF2:NM_001365430:exon3:c.G1030A:p.A344T,TCAF2:NM_173678:exon3:c.G1030A:p.A344T	.	467	1054	1	0	0	1	0.000474158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00921965722723	.	.	.	.	.	.	.	.	.	.	.	.	.	rs577661173	1.375e-06	2.056e-06	2.736e-06	0	1.163e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.018e-07	0	1.163e-05	2.017e-05	1.987e-05	3.941e-05	0	0.0001	5.36e-06	2.49e-06	2.301e-05	9.22e-06	0	0	0.0001	0	0	0	0	1.48e-05	0	0	0.163	0.23541	T	0.288	0.23231	T	0.866	0.64070	P	0.591	0.67560	P	0.160450	0.17680	N	0.603500	0.878881	0.28255	N	.	.	.	1.97	0.22067	T	-2.03	0.46673	N	0.22	0.28264	-0.9878	0.33151	T	0.106	0.38661	T	10	0.09340078	0.16526	T	0.00922	0.24225	T	0.051	0.14325	0.22	0.14224	0.0297737177859	0.01360	0.5189848858214613	0.51821	.	.	0.331813335419	0.15209	T	0.048907	0.28153	T	-0.178768	0.23919	T	-0.494564	0.22913	T	0.522767543792725	0.33467	D	0.875013	0.58582	D	0.073942356	0.16559	0.08341372	0.19112	0.073942356	0.16558	0.08341372	0.19112	-5.303	0.42710	T	.	.	0.100	0.40634	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.368696	0.30389	18.42	0.9983359700363208	0.91456	0.29454	0.23826	N	AEFI	0.227021	0.35088	N	-0.45177953563243	0.23679	1.273314	-0.571889155194518	0.20227	1.088813	6.46744833921946E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.43	1.48	0.21900	1.534000	0.35656	3.330000	0.37619	0.337000	0.19705	0.030000	0.20431	0.977000	0.30130	0.731000	0.35132	0.1124:0.1835:0.7041:0.0	6.591	0.21843	773	0.48803	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	476.63	36	chr7	143720089	.	G	A	476.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.926;DP=248;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=38.33;MQRankSum=0.691;QD=7.69;ReadPosRankSum=0;SOR=0.659	GT:AD:DP:GQ:PL	0/1:37,25:62:99:487,0,844	6	0	1	0
chr7	149492949	149492949	C	G	exonic	ZNF746	.	nonsynonymous SNV	ZNF746:NM_001163474:exon4:c.G430C:p.V144L,ZNF746:NM_001363517:exon4:c.G475C:p.V159L,ZNF746:NM_152557:exon4:c.G430C:p.V144L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0174811493365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1326535280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.07048	T	0.434	0.16425	T	0.767	0.43786	P	0.159	0.34693	B	0.018684	0.27426	N	0.172533	0.588338	0.31041	N	-0.225	0.03956	N	5.75	0.00703	T	-1.16	0.29727	N	0.28	0.31702	-0.7654	0.57110	T	0.002	0.00497	T	10	0.10142642	0.18532	T	0.017481	0.39195	T	0.097	0.27909	0.295	0.25881	0.149567049428	0.14543	0.15880526966811503	0.15801	1.51457288981	0.87293	0.611844420433	0.54577	T	0.01449	0.12330	T	-0.247355	0.14425	T	-0.593085	0.13400	T	0.708111763000488	0.41107	D	0.830517	0.52677	T	0.0558473	0.10909	0.06274609	0.12322	0.0558473	0.10909	0.06274609	0.12322	-3.084	0.11113	T	.	.	0.513	0.74832	A	.;.;.;.	.;.;.;.	2.870189	0.37953	20.6	0.98308502174484425	0.40116	0.40004	0.26340	N	AEFBCI	0.116459	0.22856	N	-0.314690456951131	0.28589	1.578164	-0.179242668996369	0.32300	1.836319	0.139669458211926	0.17249	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.33	4.44	0.53164	-0.470000	0.06717	3.969000	0.40810	0.596000	0.33519	0.003000	0.16062	1.000000	0.68203	0.999000	0.91618	0.0:0.8153:0.0:0.1847	7.199	0.25047	946	0.12043	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box;.;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1060.83	34	chr7	149492949	.	C	G	1060.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.63;DP=265;ExcessHet=0;FS=0.782;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=0.413;SOR=0.8	GT:AD:DP:GQ:PL	0/1:54,39:93:99:1071,0,1378	6	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4286	4870.49	184	chr7	152229940	.	A	G	4870.49	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.631;DP=1690;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=44.63;MQRankSum=0.809;QD=2.95;ReadPosRankSum=0.174;SOR=0.69	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:278,72:350:99:.:.:777,0,10373:.	1	0	6	0
chr7	155301607	155301607	G	A	exonic	INSIG1	.	nonsynonymous SNV	INSIG1:NM_001346590:exon3:c.G454A:p.G152R,INSIG1:NM_001346591:exon3:c.G454A:p.G152R,INSIG1:NM_001346592:exon3:c.G454A:p.G152R,INSIG1:NM_001346594:exon3:c.G454A:p.G152R,INSIG1:NM_005542:exon3:c.G454A:p.G152R	.	.	.	.	.	.	.	.	.	.	.	4154649	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.412	0.0182085521577	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs757412249	2.742e-06	3.42e-06	1.364e-06	4.133e-06	1.163e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.703e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.121	0.35840	T	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	0.71	0.51228	T	-4.47	0.77881	D	0.795	0.79118	-0.4581	0.70131	T	0.360	0.72216	T	10	0.87414324	0.86695	D	0.018209	0.40197	T	0.474	0.76685	0.722	0.85673	0.756306592105	0.75409	0.8768443856304984	0.87651	2.12773366393	0.95105	0.867854297161	0.92260	D	0.461263	0.79810	T	0.149691	0.69238	D	0.077875	0.75437	D	0.947651028633118	0.62728	D	0.915108	0.69728	D	0.42093608	0.62154	0.4359994	0.67067	0.42093608	0.62155	0.4359994	0.67068	-6.811	0.52641	T	.	.	0.962	0.88259	P	.	.	5.459766	0.91149	32	0.99931520648409933	0.99387	0.97623	0.75973	D	AEFDBCI	0.967941	0.99041	D	0.526500445182271	0.68661	5.248167	0.587462733752271	0.74039	6.069945	1.0	0.98316	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.25	5.25	0.73169	9.638000	0.97833	11.734000	0.95055	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.0:1.0:0.0	18.803	0.91989	974	0.05496	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	749.63	33	chr7	155301607	.	G	A	749.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.714;DP=208;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=1.29;SOR=0.612	GT:AD:DP:GQ:PL	0/1:21,32:53:99:760,0,448	6	0	1	0
chr7	156736511	156736511	C	T	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G862A:p.D288N,LMBR1:NM_001363409:exon10:c.G862A:p.D288N	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00204923495955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.437	0.13441	T	.	.	.	.	.	.	0.086552	0.02409	U	3.402510	1	0.08975	N	.	.	.	0.96	0.42888	T	-0.36	0.13035	N	.	.	-1.0578	0.12311	T	0.060	0.25163	T	9	0.085886	0.14546	T	0.002049	0.03748	T	0.039	0.10176	.	.	0.366848117066	0.36290	.	.	.	.	.	.	.	0.002359	0.01759	T	-0.396076	0.02457	T	-0.806712	0.01740	T	0.0450451410617822	0.04610	T	0.467453	0.13767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06479	B	.	.	0.048382	0.04624	1.289	0.56156640439083361	0.05492	0.00450	0.02181	N	AEFBI	0.054002	0.09779	N	-1.02538935071908	0.08079	0.3775781	-1.12821899440288	0.07165	0.3475029	0.0760278551513058	0.15715	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	0.924	0.18544	-0.377000	0.07513	-1.091000	0.06358	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.781:0.0:0.219	4.206	0.09947	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	255.02	125	chr7	156736511	.	C	T	255.02	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.565;DP=733;ExcessHet=0;FS=102.363;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=2.02;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,40:182:99:.:.:265,0,5132:.	6	0	1	0
chr7	156736513	156736513	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G860C:p.G287A,LMBR1:NM_001363409:exon10:c.G860C:p.G287A	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00150614267822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.03730	T	0.742	0.04947	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.08975	N	.	.	.	1.07	0.39586	T	0.36	0.03700	N	.	.	-1.0354	0.18731	T	0.036	0.15683	T	9	0.061228067	0.07643	T	0.001506	0.02318	T	0.015	0.02232	.	.	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.375517	0.03324	T	-0.777181	0.02539	T	0.0953895747661591	0.11842	T	0.426357	0.11459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18037	B	.	.	-0.217594	0.03003	0.453	0.096758296991010767	0.00104	0.00485	0.02305	N	AEFBI	0.066300	0.12978	N	-1.38224089824468	0.02805	0.1243675	-1.49979183924639	0.02347	0.1077814	0.10501068513891	0.16491	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	-1.69	0.07747	-0.556000	0.06082	-1.611000	0.05064	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.3893:0.2507:0.36	2.769	0.05000	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	191.59	125	chr7	156736513	.	C	G	191.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.944;DP=904;ExcessHet=0;FS=94.071;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.85;SOR=9.308	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:143,30:179:99:.:.:202,0,5174:.	6	0	1	0
chr7	156736514	156736514	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G859C:p.G287R,LMBR1:NM_001363409:exon10:c.G859C:p.G287R	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00190122551669	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.06957	T	0.523	0.10354	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.18612	N	.	.	.	1.02	0.40749	T	0.3	0.04091	N	.	.	-1.0527	0.13655	T	0.048	0.20513	T	9	0.08910519	0.15404	T	0.001901	0.03351	T	0.076	0.22200	.	.	0.176091768786	0.17195	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.367071	0.03744	T	-0.765049	0.02935	T	0.105643652379513	0.12966	T	0.478452	0.14421	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.24934	B	.	.	-0.091437	0.03692	0.750	0.086422518250517763	0.00072	0.00911	0.03557	N	AEFBI	0.070950	0.14104	N	-0.8756185293714	0.11424	0.5512518	-0.979727185268035	0.10241	0.5145251	0.249579810517596	0.18665	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	1.83	0.24279	-0.561000	0.06048	-0.394000	0.09455	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	7.135	0.24702	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	191.44	38	chr7	156736514	.	C	G	191.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.421;DP=407;ExcessHet=0;FS=101.954;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.94;SOR=7.222	GT:AD:DP:GQ:PL	0/1:143,30:179:99:202,0,5174	6	0	1	0
chr8	7016736	7016736	C	G	exonic	DEFA1;DEFA1B;DEFA3	.	nonsynonymous SNV	DEFA1B:NM_001042500:exon2:c.G115C:p.D39H,DEFA1:NM_004084:exon2:c.G115C:p.D39H,DEFA3:NM_005217:exon2:c.G115C:p.D39H,DEFA1B:NM_001302265:exon3:c.G136C:p.D46H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	.	.	0.0195	0.0069	0	0.1662	0.0026	0.0005	0	0.0037	0.0016235	251	154602	rs371838080	0.0026	0.0038	0.0026	0.0026	0.0852	0.0025	0.0025	0.0827	0.0816	0.0002	0.0002	0	0.0852	0.0004	0.0003	0.0001	0.0029	0.0011	0.0023	0.0032	0.0020	0.0026	0.0586	0.0021	0.0020	0.0530	0.0508	0.0005	0	0.0003	0	0.0586	0.0003	0	0.0002	0.0020	0.0018	0.003	0.68238	D	0.02	0.58613	D	0.999	0.77913	D	0.988	0.77976	D	0.836118	0.06971	N	1.110310	1	0.08975	N	.	.	.	1.31	0.35405	T	-4.61	0.79060	D	0.115	0.10340	-0.9161	0.46076	T	0.167	0.50518	T	9	0.0034990013	0.00062	T	.	.	.	0.045	0.12272	.	.	0.258283824007	0.25425	0.1544821288190487	0.15369	3.01023712014	0.99228	0.403193861246	0.25514	T	0.074153	0.34869	T	-0.578085	0.00198	T	-0.633234	0.10170	T	0.0689576246939118	0.08505	T	0.518948	0.16858	T	0.257125	0.48755	0.16905582	0.38911	0.257125	0.48755	0.16905582	0.38911	-5.743	0.44074	T	.	.	0.217	0.44720	B	.	.	1.462151	0.18848	13.96	0.95926715732096446	0.28203	0.00243	0.01347	N	AEFI	0.043209	0.06801	N	-0.726180526596654	0.15288	0.7691677	-1.04529283699952	0.08805	0.4347516	1.02728524206626E-4	0.05123	0.497415	0.19182	0	0.59043	0.45803	0	0.54472	0.12158	0	0.613276	0.41899	0	.	.	2.04	-2.53	0.05959	-0.457000	0.06821	-2.438000	0.03754	-0.303000	0.06174	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3778:0.4572:0.165	4.328	0.10491	994	0.00715	Defensin propeptide	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	116.89	1	chr8	7016736	.	C	G	116.89	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.651;DP=44;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=26.58;MQRankSum=0.812;QD=9.74;ReadPosRankSum=-0.076;SOR=0.883	GT:AD:DP:GQ:PL	0/1:7,5:12:99:126,0,172	5	0	1	1
chr8	7333515	7333515	G	A	exonic	USP17L1;USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.G1129A:p.E377K,USP17L1:NM_001256873:exon1:c.G1129A:p.E377K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.898e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.46862	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.10075763	0.18370	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.04745988724882907	0.04688	.	.	0.591529250145	0.51709	T	0.029586	0.21165	T	-0.0713543	0.41109	T	-0.340272	0.40313	T	.	.	.	0.736326	0.35288	T	0.06229566	0.12995	0.10049346	0.24029	0.06229566	0.12994	0.10049346	0.24028	-6.071	0.46869	T	.	.	0.114	0.22680	B	.	.	1.320084	0.17239	13.04	0.53322031503619816	0.04917	0.00344	0.01781	N	AEFI	.	.	.	.	.	.	.	.	.	1.15279963576522E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.472	0.472	0.15969	-0.092000	0.11094	0.047000	0.13948	-0.704000	0.03997	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2299.44	35	chr8	7333515	.	G	A	2299.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.223;DP=412;ExcessHet=0;FS=2.341;MLEAC=1;MLEAF=0.071;MQ=47.72;MQRankSum=1.05;QD=10.7;ReadPosRankSum=1.63;SOR=0.892	GT:AD:DP:GQ:PL	0/1:118,97:215:99:2310,0,2945	6	0	1	0
chr8	8377994	8377994	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G415A:p.V139I,PRAG1:NM_001369759:exon3:c.G415A:p.V139I	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	0.00838658	0.0030	0.0001	0	0.0375	0	4.638e-05	0.0024	0.0012	0.0026714	413	154602	rs34346032	0.0015	0.0015	0.0016	0.0015	0.0492	0.0015	0.0014	0.0474	0.0466	0.0001	4.504e-05	0.0003	0.0492	0	0.0002	9.911e-06	0.0021	0.0011	0.0016	0.0016	0.0013	0.0019	0.0418	0.0014	0.0013	0.0373	0.0355	4.812e-05	0	0.0002	0.0003	0.0418	0	0	8.818e-05	0.0005	0.0021	.	.	.	0.294	0.20745	T	0.001	0.07471	B	0.001	0.04355	B	0.132007	0.02815	N	2.005860	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.088	0.06587	-1.0292	0.20713	T	0.025	0.10866	T	10	0.0025531352	0.00039	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.04730278728767165	0.04673	.	.	0.326323330402	0.14379	T	0.020504	0.16130	T	-0.721487	0.00027	T	-0.780574	0.02436	T	0.00551260081461059	0.00060	T	0.560744	0.19617	T	0.009911769	0.00004	0.024715867	0.00496	0.009911769	0.00004	0.024715867	0.00496	-4.065	0.24772	T	.	.	0.070	0.04198	B	.;.	.;.	-0.416211	0.02152	0.208	0.97584950101558265	0.34758	0.10795	0.16198	N	AEFDBCI	0.031707	0.03443	N	-1.01307175429519	0.08332	0.3902991	-1.06509131561275	0.08395	0.4126005	0.998538001401199	0.37148	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.12	-1.11	0.09336	-0.767000	0.04826	-4.423000	0.02164	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.069000	0.16583	0.0:0.4594:0.2511:0.2895	5.272	0.14943	930	0.16408	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	997.46	34	chr8	8377994	.	C	T	997.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.947;DP=294;ExcessHet=0;FS=0.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-3.264;SOR=0.827	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1008,0,1337	6	0	1	0
chr8	8702600	8702600	C	T	exonic	CLDN23	.	stopgain	CLDN23:NM_194284:exon1:c.C202T:p.Q68X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394366370	6.873e-07	6.84e-07	1.366e-06	0	9.019e-07	0	0	.	.	0	0	0	0	0	0	9.019e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.065	0.03726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.538295	0.00343	T	-1.011	0.00119	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	3.778306	0.54311	23.5	0.90173158549523191	0.19450	0.02875	0.07651	N	AEFDBCI	0.035818	0.04672	N	-1.46139431890076	0.02129	0.09366553	-1.93319994575033	0.00420	0.01858857	0.999999999998752	0.74766	0.652421	0.48094	0	0.491552	0.07993	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.55	-9.1	0.00610	-2.216000	0.01305	-7.240000	0.01199	-4.193000	0.00038	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1627:0.7255:0.1118:0.0	20.579	0.99374	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	492.27	36	chr8	8702600	.	C	T	492.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.937;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-1.429;SOR=0.871	GT:AD:DP:GQ:PL	0/1:23,23:46:99:502,0,576	5	0	1	1
chr8	8703032	8703032	T	-	exonic	CLDN23	.	frameshift deletion	CLDN23:NM_194284:exon1:c.634delT:p.W212Gfs*85	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	760.41	34	chr8	8703031	.	GT	G	760.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.23;DP=279;ExcessHet=0;FS=1.078;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.35;ReadPosRankSum=1.06;SOR=1.012	GT:AD:DP:GQ:PL	0/1:30,23:53:99:771,0,1052	6	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	1787.59	130	chr8	10609944	.	A	G	1787.59	.	AC=2;AF=0.5;AN=4;BaseQRankSum=-3.617;DP=1121;ExcessHet=0.4139;FS=229.301;MLEAC=3;MLEAF=0.75;MQ=60;MQRankSum=0;QD=3.66;ReadPosRankSum=1.93;SOR=9.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,49:211:99:0|1:10609943_C_T:986,0,6146:10609943	0	0	2	5
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	3234.03	95	chr8	10609948	.	C	G	3234.03	.	AC=1;AF=0.25;AN=4;BaseQRankSum=-3.261;DP=991;ExcessHet=0.4139;FS=338.08;MLEAC=2;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.57;ReadPosRankSum=3.66;SOR=10.2	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,51:218:99:0|1:10609943_C_T:995,0,6217:10609943	1	0	1	5
chr8	11808562	11808562	G	C	exonic	FDFT1	.	nonsynonymous SNV	FDFT1:NM_001287750:exon1:c.G45C:p.K15N	.	0	225	1	0	0	1	0.00221729	.	.	.	1037841	not_provided|FDFT1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0051483	134	26028	rs181750463	0.0080	0.0069	0.0082	0.0078	0.0092	0.0079	0.0078	0.0091	0.0090	0.0016	0.0026	0	0	0.0016	0.0003	0.0092	0.0070	0.0004	0.0045	0.0045	0.0052	0.0038	0.0081	0.0043	0.0042	0.0076	0.0074	0.0014	0	0.0042	0	0	0.0004	0	0.0081	0.0038	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013361603	0.00284	T	.	.	.	.	.	.	.	.	.	0.25797449620942636	0.25711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428957	0.11607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841	0.79281	P	.	.	2.247927	0.28711	17.89	0.91072291409567174	0.20324	0.91547	0.53758	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999993405534	0.74766	0.162408	0.03677	1	0.090139	0.02499	0	0.132232	0.03703	1	0.143876	0.04018	0	0.823858	0.49243	4.32	3.45	0.38602	5.258000	0.65299	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.1025:0.0:0.8975:0.0	9.259	0.36762	963	0.08280	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	238.31	13	chr8	11808562	.	G	C	238.31	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.164;DP=63;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.33;ReadPosRankSum=0.997;SOR=1.27	GT:AD:DP:GQ:PL	0/1:5,8:13:99:248,0,169	5	0	1	1
chr8	17715892	17715892	G	A	exonic	MTUS1	.	nonsynonymous SNV	MTUS1:NM_001001931:exon2:c.C200T:p.A67V,MTUS1:NM_001001925:exon4:c.C2297T:p.A766V,MTUS1:NM_001363060:exon4:c.C2297T:p.A766V,MTUS1:NM_001363062:exon4:c.C2297T:p.A766V,MTUS1:NM_001001924:exon5:c.C2459T:p.A820V,MTUS1:NM_001363057:exon5:c.C2459T:p.A820V,MTUS1:NM_001363059:exon5:c.C2459T:p.A820V,MTUS1:NM_001363061:exon5:c.C2459T:p.A820V,MTUS1:NM_001363058:exon6:c.C2459T:p.A820V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0286938277522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.016	0.60972	D	0.973	0.62325	D	0.64	0.59919	P	0.000141	0.49130	D	0.085063	1	0.81001	D	2.75	0.80375	M	2.67	0.35775	T	-1.75	0.41428	N	0.565	0.58883	-0.8816	0.49634	T	0.162	0.49797	T	10	0.3372829	0.50853	T	0.028694	0.51333	D	0.154	0.40340	0.057	0.00169	0.673290731237	0.67052	0.14450706623451692	0.14373	.	.	0.408744990826	0.26283	T	0.058995	0.30995	T	-0.0489599	0.44606	T	-0.308104	0.43861	T	0.930219709873199	0.59478	D	0.869413	0.59928	D	0.16448002	0.36658	0.20729782	0.44982	0.16448002	0.36657	0.20729782	0.44982	-3.856	0.21644	T	.	.	0.096	0.33823	B	.;.;.;.	.;.;.;.	3.408129	0.47264	22.4	0.99882441669800304	0.95813	0.78196	0.38544	D	AEFBHCI	0.433621	0.49500	N	0.330785083233891	0.57735	3.942014	0.269580744998826	0.53771	3.544484	0.998582606468762	0.37247	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.85	3.97	0.45241	3.106000	0.50013	4.832000	0.45208	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.591000	0.31164	0.0:0.0:0.8455:0.1545	13.713	0.62160	609	0.67094	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	726.27	16	chr8	17715892	.	G	A	726.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.956;DP=157;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=19.63;ReadPosRankSum=-2.308;SOR=0.474	GT:AD:DP:GQ:PL	0/1:8,29:37:99:736,0,136	5	0	1	1
chr8	22163910	22163910	G	C	exonic	SFTPC	.	nonsynonymous SNV	SFTPC:NM_001317779:exon4:c.G304C:p.A102P,SFTPC:NM_001172357:exon5:c.G445C:p.A149P,SFTPC:NM_001172410:exon5:c.G463C:p.A155P,SFTPC:NM_001317778:exon5:c.G445C:p.A149P,SFTPC:NM_001317780:exon5:c.G445C:p.A149P,SFTPC:NM_001385653:exon5:c.G463C:p.A155P,SFTPC:NM_003018:exon5:c.G463C:p.A155P,SFTPC:NM_001385660:exon6:c.G304C:p.A102P,SFTPC:NM_001385654:exon7:c.G463C:p.A155P,SFTPC:NM_001385655:exon7:c.G463C:p.A155P,SFTPC:NM_001385656:exon7:c.G445C:p.A149P,SFTPC:NM_001385657:exon7:c.G445C:p.A149P,SFTPC:NM_001385658:exon7:c.G445C:p.A149P,SFTPC:NM_001385659:exon7:c.G445C:p.A149P	Surfactant metabolism dysfunction, pulmonary, 2, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	304877	not_provided|not_specified|Interstitial_lung_disease_2|Surfactant_metabolism_dysfunction,_pulmonary,_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MONDO:MONDO:0024465,MedGen:C1970470,OMIM:610913	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.547	0.0545171781103	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	0.0004	0.0002199	34	154602	rs202145169	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	2.236e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	8.655e-05	7.248e-05	0.0001	8.875e-05	2.404e-05	0	0.0002	0	0	0	0	0.0002	0.0009	0.0002	0.157	0.28395	T	0.246	0.40586	T	.	.	.	.	.	.	0.872432	0.07184	N	1.067260	1	0.08975	N	.	.	.	-1.31	0.79666	T	-1.33	0.41428	N	0.1	0.19055	-0.9471	0.41465	T	0.237	0.60451	T	10	0.0447284	0.03463	T	0.054517	0.65885	D	0.547	0.81193	.	.	0.593515057505	0.59029	0.6145508798823447	0.61387	0.577822155158	0.53695	0.328964650631	0.14777	T	0.025483	0.19048	T	-0.16086	0.26629	T	-0.152684	0.59006	T	0.00790225081601422	0.00093	T	0.549445	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.19478	B	.;.;.;.	.;.;.;.	1.142976	0.15306	11.75	0.90113081400050943	0.19394	0.08522	0.14440	N	AEFDBI	0.367566	0.45498	N	-1.09176565298304	0.06794	0.3137763	-1.14816901127425	0.06801	0.3286011	0.999843778089155	0.43971	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.98	-2.78	0.05512	-0.180000	0.09747	1.415000	0.26314	0.671000	0.69459	0.000000	0.06391	0.002000	0.18203	0.075000	0.16954	0.1872:0.1191:0.2051:0.4886	1.538	0.02395	555	0.71762	BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1847.44	43	chr8	22163910	.	G	C	1847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.37;DP=346;ExcessHet=0;FS=0.652;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.157;SOR=0.796	GT:AD:DP:GQ:PL	0/1:54,81:135:99:1858,0,1135	6	0	1	0
chr8	37872259	37872259	G	A	exonic	RAB11FIP1	.	nonsynonymous SNV	RAB11FIP1:NM_001002814:exon4:c.C2543T:p.A848V	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.0036525670642	0.0038	0.00219649	0.0028	0.0013	0.0015	0	0.0012	0.0042	0.0033	0.0010	0.002846	440	154602	rs139234262	0.0037	0.0037	0.0037	0.0038	0.0044	0.0037	0.0036	0.0043	0.0042	0.0010	0.0015	0.0034	2.519e-05	0.0016	0.0017	0.0044	0.0035	0.0011	0.0030	0.0030	0.0030	0.0029	0.0045	0.0027	0.0026	0.0041	0.0040	0.0014	0	0.0027	0.0032	0	0.0013	0	0.0045	0.0024	0.0021	1.0	0.00964	T	0.614	0.07592	T	0.0	0.02946	B	0.0	0.01387	B	0.000912	0.00708	N	3.533280	1	0.08975	N	0.345	0.11182	N	2.97	0.09450	T	0.27	0.04306	N	0.028	0.00618	-0.9832	0.34258	T	0.007	0.02558	T	10	0.0038850307	0.00074	T	0.003653	0.08402	T	0.006	0.00375	.	.	0.24896430686	0.24499	0.07335936095569658	0.07272	0.0710322855299	0.07957	0.252858519554	0.04074	T	0.001423	0.00883	T	-0.771232	0.00013	T	-0.879782	0.00656	T	0.00342617010551455	0.00036	T	0.327667	0.06803	T	0.020127866	0.00561	0.037162513	0.03312	0.020127866	0.00560	0.037162513	0.03312	-3.55	0.17139	T	.	.	0.083	0.09191	B	.	.	-2.028296	0.00095	0.002	0.43184151906932011	0.03234	0.02189	0.06400	N	AEFBCI	0.030200	0.02996	N	-1.80112287585399	0.00542	0.0233553	-1.83928559824755	0.00641	0.02850928	0.999999769970526	0.74766	0.460665	0.09802	0	0.552637	0.17590	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	5.4	-7.53	0.01194	-2.790000	0.00837	-2.786000	0.03362	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2816:0.1198:0.4815:0.1171	4.879	0.13026	799	0.44747	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1981.45	33	chr8	37872259	.	G	A	1981.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.538;DP=351;ExcessHet=0;FS=0.564;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-2.074;SOR=0.763	GT:AD:DP:GQ:PL	0/1:83,86:169:99:1992,0,1791	6	0	1	0
chr8	55102982	55102982	G	A	exonic	XKR4	.	nonsynonymous SNV	XKR4:NM_052898:exon1:c.G494A:p.R165H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0973141550872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.918	0.65394	D	0.000205	0.47681	D	0.127086	0.999783	0.49076	D	2.505	0.72935	M	-0.15	0.65192	T	-2.01	0.46337	N	0.649	0.67391	-0.2041	0.77564	T	0.415	0.76232	T	10	0.75375366	0.75828	D	0.097314	0.76753	D	0.476	0.76816	0.677	0.81496	0.849196322491	0.84774	0.7889629455339338	0.78848	1.71759824181	0.90524	0.935976862907	0.99290	D	0.097112	0.39961	T	0.316911	0.84250	D	0.217444	0.84045	D	0.990491151809692	0.80716	D	0.989601	0.96561	D	0.27911463	0.50963	0.26417568	0.52233	0.27911463	0.50963	0.26417568	0.52233	-6.586	0.50945	T	.	.	0.824	0.78511	P	.;.	.;.	5.902917	0.94005	33	0.99955487005235077	0.99975	0.49595	0.28469	N	ALL	0.785774	0.71606	D	0.864626668306213	0.89924	10.17639	0.859847938803985	0.93579	12.13653	1.0	0.98316	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.341033	0.05752	3	.	.	5.57	5.57	0.84021	9.255000	0.94710	11.468000	0.92849	0.565000	0.28586	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.549	0.95303	885	0.28214	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1821.92	35	chr8	55102982	.	G	A	1821.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.484;DP=305;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=1.38;SOR=0.717	GT:AD:DP:GQ:PL	0/1:46,35:81:99:874,0,1206	4	0	2	1
chr8	56113820	56113820	T	C	exonic	MOS	.	nonsynonymous SNV	MOS:NM_005372:exon1:c.A163G:p.I55V	.	426	1078	18	0	0	18	0.00827967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564	0.153497219368	0.0008	0.000798722	0.0006	0	0.0004	0	0	0.0009	0.0045	0.0004	0.0006274	97	154602	rs144702322	0.0005	0.0005	0.0005	0.0005	0.0085	0.0005	0.0005	0.0066	0.0059	0.0007	0.0010	0.0070	0	0	0.0085	0.0003	0.0013	0.0004	0.0006	0.0006	0.0006	0.0006	0.0009	0.0005	0.0005	0.0006	0.0004	9.638e-05	0	0.0009	0.0081	0	0	0.0102	0.0005	0.0024	0	0.036	0.43393	D	0.151	0.32355	T	0.816	0.45573	P	0.293	0.40773	B	0.000015	0.62929	D	0.064498	0.99989	0.50595	D	1.28	0.32218	L	-3.21	0.93291	D	-0.28	0.11547	N	0.299	0.33796	0.667	0.92764	D	0.762	0.91890	D	10	0.010984093	0.00242	T	0.153497	0.83475	D	0.564	0.82175	.	.	0.918735037237	0.91791	0.44599518074386335	0.44517	1.44029995128	0.85957	0.662431120872	0.61757	T	0.20794	0.56773	T	-0.254328	0.13573	T	-0.188542	0.55727	T	0.0328171967443175	0.02440	T	0.948505	0.80194	D	0.11397421	0.26911	0.17326204	0.39641	0.11397421	0.26911	0.17326204	0.39640	-3.11	0.11411	T	.	.	0.126	0.26576	B	.	.	3.331433	0.45867	22.2	0.99871693864411837	0.94902	0.95878	0.66542	D	AEFDBCI	0.745180	0.68793	D	0.432030860679848	0.63191	4.548206	0.465406362246442	0.65714	4.858585	0.999982840478946	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.478664	0.07449	1	0.63947	0.58350	0	.	.	5.14	5.14	0.70008	4.954000	0.63335	4.202000	0.42475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.452000	0.27939	0.0:0.0:0.0:1.0	14.968	0.70859	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008569	0.010101	0.013587	0.002924	0.000000	0.008621	0.003067	0.003788	0.07143	2117.44	39	chr8	56113820	.	T	C	2117.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.208;DP=372;ExcessHet=0;FS=8.013;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=-1.03;SOR=1.254	GT:AD:DP:GQ:PL	0/1:81,90:171:99:2128,0,1886	6	0	1	0
chr8	67076486	67076486	A	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001363131:exon3:c.A104G:p.K35R,CSPP1:NM_001363132:exon3:c.A104G:p.K35R,CSPP1:NM_001363133:exon3:c.A104G:p.K35R,CSPP1:NM_001364869:exon3:c.A212G:p.K71R,CSPP1:NM_001364870:exon3:c.A212G:p.K71R,CSPP1:NM_001382391:exon3:c.A104G:p.K35R,CSPP1:NM_024790:exon3:c.A212G:p.K71R	Joubert syndrome 21, Autosomal recessive	438	1074	10	0	0	10	0.00463392	.	.	.	439323	not_provided|CSPP1-related_disorder|Joubert_syndrome_21	MedGen:C3661900|.|MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.032919025482	0.0003	0.000998403	0.0009	0	0.0007	0	0	0.0007	0.0022	0.0035	0.000815	126	154602	rs200158932	0.0007	0.0008	0.0007	0.0008	0.0037	0.0007	0.0007	0.0034	0.0032	3.223e-05	0.0009	0.0048	0	1.901e-05	0.0020	0.0005	0.0012	0.0037	0.0008	0.0008	0.0007	0.0009	0.0033	0.0007	0.0006	0.0021	0.0017	9.635e-05	0	0.0022	0.0075	0	0	0	0.0006	0.0014	0.0033	0.167	0.31088	T	0.397	0.15157	T	0.675	0.41275	P	0.23	0.38212	B	.	.	.	.	0.999968	0.52935	D	2.175	0.60977	M	0.01	0.62459	T	-1.58	0.38151	N	0.29	0.32812	-0.9104	0.46805	T	0.168	0.50713	T	9	0.004075825	0.00080	T	0.032919	0.54612	D	0.081	0.23632	.	.	0.618220796974	0.61513	0.13224687950424716	0.13149	0.260233757708	0.28594	0.417426407337	0.27483	T	0.039126	0.25082	T	-0.506299	0.00527	T	-0.503091	0.22027	T	0.0435329575867889	0.04335	T	0.722728	0.33613	T	.	.	.	.	.	.	.	.	-4.079	0.24980	T	.	.	0.086	0.10691	B	.;.	.;.	3.978801	0.58476	24.0	0.96336002961567346	0.29466	0.77316	0.38000	D	AEFDBHI	0.176160	0.30336	N	-0.592453376376473	0.19172	1.001356	-0.56047423542501	0.20528	1.106393	0.422258865873599	0.20301	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.53	3.09	0.34677	3.732000	0.54746	.	.	-0.095000	0.16041	0.996000	0.39380	0.999000	0.35428	0.014000	0.10232	0.737:0.263:0.0:0.0	12.555	0.55595	358	0.85037	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.1429	1073.26	34	chr8	67076486	.	A	G	1073.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.58;DP=265;ExcessHet=0.3476;FS=3.701;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-1.154;SOR=1.136	GT:AD:DP:GQ:PL	0/1:37,30:67:99:744,0,931	5	0	2	0
chr8	97930977	97930977	C	T	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon3:c.C167T:p.A56V,MATN2:NM_002380:exon3:c.C167T:p.A56V,MATN2:NM_030583:exon3:c.C167T:p.A56V	.	431	1005	81	5	0	91	0.0433127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.228	.	0.0024	0.00379393	0.0051	0.0007	0.0047	0	0.0011	0.0045	0.0214	0.0167	0.0044113	682	154602	rs138635803	0.0033	0.0033	0.0028	0.0038	0.0368	0.0032	0.0032	0.0328	0.0312	0.0008	0.0049	0.0187	2.522e-05	0.0008	0.0368	0.0020	0.0056	0.0157	0.0028	0.0028	0.0025	0.0031	0.0126	0.0026	0.0025	0.0101	0.0092	0.0003	0	0.0052	0.0213	0.0002	9.418e-05	0.0340	0.0025	0.0080	0.0126	0.256	0.17126	T	0.477	0.12704	T	0.363	0.37483	B	0.311	0.41430	B	0.006445	0.32025	N	0.220361	0.859202	0.81001	D	0.695	0.17993	N	-1.14	0.77843	T	1.46	0.00775	N	0.165	0.27197	-0.7608	0.57362	T	0.161	0.49681	T	10	0.01770696	0.00380	T	.	.	.	0.228	0.52768	.	.	0.836741868336	0.83518	0.530535038014803	0.52977	0.192949307211	0.21626	0.479947000742	0.36049	T	0.015811	0.13192	T	-0.398691	0.02362	T	-0.333144	0.41118	T	0.0253921043202583	0.01324	T	0.845515	0.52437	T	0.065625004	0.14045	0.07151575	0.15323	0.065625004	0.14044	0.07151575	0.15323	-1.29	0.01734	T	.	.	0.13	0.28377	B	.;.;.;.	.;.;.;.	2.482416	0.32012	18.91	0.9952394340556775	0.69407	0.61361	0.31462	D	AEFDBI	0.115443	0.22698	N	0.102348143987851	0.46573	2.895542	0.257965852461295	0.53105	3.481049	0.999999994929606	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	5.64	4.76	0.60189	4.001000	0.56758	3.327000	0.37595	0.545000	0.25583	1.000000	0.71638	0.998000	0.33993	0.996000	0.76049	0.0:0.729:0.0:0.271	5.367	0.15419	853	0.34956	.;von Willebrand factor, type A;.;von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025680	0.015152	0.021739	0.049708	0.000000	0.008621	0.033537	0.007576	0.2143	1889.05	28	chr8	97930977	.	C	T	1889.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.632;DP=239;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.85;SOR=0.688	GT:AD:DP:GQ:PL	0/1:27,30:57:99:813,0,721	4	0	3	0
chr8	99832387	99832387	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon52:c.A9424G:p.S3142G,VPS13B:NM_152564:exon52:c.A9349G:p.S3117G	Cohen syndrome, Autosomal recessive	72	1369	76	5	0	86	0.0304533	.	.	.	101771	Cohen_syndrome|Inborn_genetic_diseases|not_specified|not_provided	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.093	.	0.0043	0.00579073	0.0190	0.0017	0.0085	0	0.0162	0.0169	0.0288	0.0305	0.0056726	877	154602	rs113671330	0.0077	0.0072	0.0070	0.0085	0.0320	0.0076	0.0076	0.0276	0.0259	0.0017	0.0025	0.0206	6.41e-05	0.0038	0.0320	0.0067	0.0088	0.0259	0.0069	0.0066	0.0063	0.0076	0.0257	0.0065	0.0063	0.0215	0.0199	0.0012	0	0.0031	0.0255	0.0003	0.0064	0.0303	0.0084	0.0096	0.0257	0.293	0.15561	T	0.232	0.24987	T	0.111	0.26235	B	0.041	0.23986	B	0.000053	0.53742	N	0.157724	0.957555	0.81001	D	0.995	0.25082	L	-0.5	0.70597	T	-1.9	0.44284	N	0.276	0.33687	-0.8517	0.51850	T	0.159	0.49296	T	10	0.0035758317	0.00065	T	.	.	.	0.093	0.26882	.	.	0.653813299475	0.65093	0.2101324214411371	0.20929	0.158005701542	0.17844	0.340887725353	0.16572	T	0.11923	0.44060	T	-0.369077	0.03641	T	-0.280618	0.46741	T	0.0234115201300916	0.01073	T	0.616038	0.23564	T	0.15742865	0.35473	0.14939047	0.35274	0.17221728	0.37900	0.14939047	0.35273	-2.926	0.09406	T	0.7913050563428241	0.86969	0.077	0.06387	B	.;.	.;.	2.110446	0.26858	17.26	0.9592728960765865	0.28206	0.94451	0.61208	D	AEFBI	0.198077	0.32496	N	-0.180351885292511	0.33954	1.932295	-0.0107343764997269	0.39228	2.322809	0.852320626362985	0.25068	0.615465	0.37627	0	0.596877	0.49441	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.55	4.4	0.52402	2.811000	0.47685	2.651000	0.33816	0.756000	0.94297	1.000000	0.71638	0.999000	0.35428	0.992000	0.67800	0.9283:0.0:0.0717:0.0	11.151	0.47683	473	0.77910	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.016734	0.000000	0.013661	0.008876	0.000000	0.017241	0.027950	0.034351	0.07143	1505.44	42	chr8	99832387	.	A	G	1505.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.002;DP=388;ExcessHet=0;FS=6.17;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.042;SOR=1.286	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1516,0,1516	6	0	1	0
chr8	132941528	132941528	C	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5219A:p.T1740K	Thyroid dyshormonogenesis 3, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	722859	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	.	0.0080	0.00758786	0.0023	0.0262	0.0005	0	0	0	0	0	0.0021216	328	154602	rs16904791	0.0007	0.0007	0.0008	0.0006	0.0264	0.0007	0.0007	0.0249	0.0244	0.0264	0.0014	0	0	0	0.0010	8.993e-06	0.0016	2.319e-05	0.0075	0.0075	0.0078	0.0071	0.0259	0.0071	0.0069	0.0246	0.0241	0.0259	0	0.0030	0	0	0	0	7.349e-05	0.0033	0	0.002	0.72154	D	0.008	0.67890	D	0.514	0.37393	P	0.036	0.22909	B	0.180730	0.03180	N	1.642720	1	0.08975	N	2.19	0.61577	M	-0.25	0.67011	T	-2.13	0.48354	N	0.285	0.32259	-0.9220	0.45279	T	0.092	0.35010	T	10	0.008458972	0.00192	T	.	.	.	0.144	0.38394	.	.	0.810901720151	0.80912	0.4627720739836157	0.46196	0.0895148867953	0.10113	0.295309662819	0.09703	T	0.118532	0.43941	T	-0.510109	0.00501	T	-0.484563	0.23962	T	0.0241126761368785	0.01159	T	0.675332	0.28377	T	0.31504348	0.54219	0.17873062	0.40561	0.5080722	0.67568	0.17803042	0.40443	-3.043	0.10651	T	0.5186647486589467	0.59128	0.331	0.55278	B	.	.	1.747279	0.22230	15.53	0.96835020279510986	0.31282	0.06640	0.12657	N	AEFDGBI	0.105024	0.20996	N	-0.485131604309739	0.22568	1.205935	-0.526456082756643	0.21436	1.160	0.999968848663383	0.48965	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.61	3.83	0.43287	1.920000	0.39655	-0.005000	0.13145	-0.176000	0.10722	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.0:0.8253:0.0:0.1747	8.737	0.33697	672	0.60758	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3816.24	33	chr8	132941528	.	C	A	3816.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.15;DP=466;ExcessHet=0.3476;FS=4.468;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.367;SOR=0.498	GT:AD:DP:GQ:PL	0/1:71,85:156:99:2054,0,1743	5	0	2	0
chr8	138152799	138152799	C	T	exonic	FAM135B	.	nonsynonymous SNV	FAM135B:NM_001362965:exon13:c.G1676A:p.S559N,FAM135B:NM_015912:exon13:c.G1676A:p.S559N	.	.	.	.	.	.	.	.	.	.	.	2306464	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.076	0.00706752229746	8.3e-05	.	8.281e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs372228047	4.788e-06	4.788e-06	1.361e-06	8.25e-06	2.519e-05	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	2.519e-05	0	0	5.396e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.053	0.38863	T	0.282	0.21545	T	0.988	0.62325	D	0.815	0.58847	P	0.000655	0.42656	D	0.229384	0.847345	0.28546	N	1.9	0.50570	L	2.1	0.19990	T	-1.15	0.29525	N	0.165	0.17416	-1.0118	0.26353	T	0.113	0.40238	T	10	0.19002917	0.34628	T	0.007068	0.18731	T	0.076	0.22200	.	.	0.138757226776	0.13463	0.3425949828871486	0.34172	0.0756700949329	0.08493	0.393459439278	0.24156	T	0.053581	0.29484	T	-0.213519	0.18887	T	-0.544482	0.17859	T	0.610940277576447	0.36838	D	0.60344	0.22635	T	0.12558632	0.29437	0.12949654	0.31136	0.12558632	0.29437	0.12949654	0.31135	-4.259	0.27598	T	.	.	0.090	0.12512	B	.	.	2.900087	0.38433	20.7	0.99420205974627918	0.63742	0.89438	0.49903	D	AEFBI	0.304866	0.41245	N	0.590448359577619	0.72579	5.827827	0.584269450379789	0.73811	6.032093	0.0209559632981944	0.13307	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.45	5.45	0.79688	1.736000	0.37811	2.529000	0.33158	0.599000	0.40250	1.000000	0.71638	0.993000	0.31925	0.991000	0.66497	0.0:0.9215:0.0:0.0785	12.028	0.52678	959	0.08690	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2137.04	63	chr8	138152799	.	C	T	2137.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.122;DP=378;ExcessHet=0.3476;FS=4.96;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.498;SOR=1.096	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1006,0,1041	5	0	2	0
chr8	143274740	143274740	C	T	exonic	GLI4	.	nonsynonymous SNV	GLI4:NM_138465:exon3:c.C161T:p.P54L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00469739340585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1397023827	2.118e-06	4.788e-06	1.397e-06	2.854e-06	1.233e-05	5.6e-07	1.6e-07	.	.	0	0	0	0	0	0	0	3.417e-05	1.233e-05	1.314e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0.0005	0	0.013	0.53900	D	0.017	0.92824	D	0.006	0.13644	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.145	0.08828	N	3.38	0.05778	T	-5.89	0.88767	D	0.072	0.17002	-1.0207	0.23486	T	0.048	0.20553	T	9	0.070071906	0.10143	T	0.004697	0.11691	T	0.027	0.05988	0.291	0.25241	0.273938319068	0.27005	0.0737348557524076	0.07310	0.446228978269	0.44498	0.369086682796	0.20701	T	0.001118	0.00627	T	-0.320744	0.06836	T	-0.698503	0.05907	T	0.0489746907178913	0.05319	T	0.561144	0.19645	T	0.027574362	0.01969	0.0325031	0.01996	0.027574362	0.01969	0.0325031	0.01995	-3.971	0.23368	T	.	.	0.191	0.46378	B	.;.;.;.;.;.	.;.;.;.;.;.	1.101915	0.14861	11.39	0.9524600905031223	0.26495	0.15742	0.19060	N	AEFDGBCI	0.098356	0.19822	N	-0.867284705345634	0.11627	0.5621382	-0.985636128710239	0.10108	0.5069896	0.999996032581116	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.493711	0.08198	1	0.63947	0.58350	0	.	.	3.8	0.711	0.17319	-0.071000	0.11465	.	.	-0.202000	0.08738	0.000000	0.06391	0.049000	0.21787	0.002000	0.04165	0.1646:0.5777:0.16:0.0977	3.913	0.08712	982	0.03397	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1191.45	34	chr8	143274740	.	C	T	1191.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=271;ExcessHet=0;FS=0.797;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.784;SOR=0.819	GT:AD:DP:GQ:PL	0/1:40,50:90:99:1202,0,806	6	0	1	0
chr8	143379503	143379503	G	A	exonic	RHPN1	.	nonsynonymous SNV	RHPN1:NM_052924:exon8:c.G940A:p.A314T	.	418	1077	23	4	0	31	0.0141876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.101666304702	0.0019	0.00179712	0.0048	0.0006	0.0033	0	0	0.0044	0.0066	0.0073	0.0018176	281	154602	rs199609984	0.0031	0.0031	0.0031	0.0032	0.0140	0.0030	0.0030	0.0113	0.0103	0.0009	0.0020	0.0001	2.782e-05	8.308e-05	0.0140	0.0033	0.0033	0.0048	0.0022	0.0022	0.0022	0.0022	0.0056	0.0020	0.0019	0.0039	0.0034	0.0008	0.0033	0.0039	0.0003	0	0	0.0204	0.0029	0.0028	0.0056	0.044	0.41096	D	0.113	0.36901	T	.	.	.	.	.	.	0.000004	0.62929	N	0.061048	0.999449	0.47080	D	2.93	0.84523	M	2.07	0.20387	T	-3.34	0.66325	D	0.364	0.40565	-1.0938	0.04929	T	0.062	0.25672	T	10	0.012050003	0.00261	T	0.101666	0.77468	D	0.127	0.34888	.	.	0.235664433957	0.23186	0.39779810247814446	0.39694	0.0755392110658	0.08479	0.558147668839	0.47006	T	0.159767	0.50334	T	-0.484472	0.00697	T	-0.468283	0.25702	T	0.045643406678797	0.04719	T	0.819918	0.47811	T	0.30405015	0.53266	0.31682783	0.57661	0.30405015	0.53266	0.31682783	0.57661	-7.704	0.59035	D	.	.	0.115	0.23041	B	.	.	3.532197	0.49562	22.8	0.99507392132967576	0.68381	0.32998	0.24722	N	AEFDGBCI	0.084361	0.17098	N	0.109763883042408	0.46917	2.924881	0.0379858628087101	0.41495	2.49388	0.999998653722359	0.74766	0.65861	0.49226	0	0.688826	0.66785	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.28	3.38	0.37806	4.331000	0.59057	.	.	0.581000	0.30040	1.000000	0.71638	1.000000	0.68203	0.535000	0.29822	0.0868:0.0:0.7625:0.1507	8.509	0.32367	976	0.04745	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016163	0.000000	0.015193	0.020958	0.000000	0.063636	0.012739	0.011811	0.07143	1084.63	19	chr8	143379503	.	G	A	1084.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.69;DP=213;ExcessHet=0;FS=1.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.49;ReadPosRankSum=0.618;SOR=0.498	GT:AD:DP:GQ:PL	0/1:20,42:62:99:1095,0,460	6	0	1	0
chr8	144059876	144059876	G	A	exonic	OPLAH	.	nonsynonymous SNV	OPLAH:NM_017570:exon2:c.C157T:p.R53C	5-oxoprolinase deficiency, Autosomal recessive, Autosomal dominant	6	1510	6	0	0	6	0.00198282	.	.	.	1505542	not_specified|not_provided|5-Oxoprolinase_deficiency	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0040142,MONDO:MONDO:0009825,MedGen:C0268525,OMIM:260005,Orphanet:33572	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.464	0.106804416074	0.0002	0.000199681	0.0003	0.0006	0.0007	0	0	0.0004	0	0.0001	0.0003363	52	154602	rs200381383	0.0003	0.0003	0.0002	0.0003	0.0047	0.0002	0.0002	0.0033	0.0028	0.0016	0.0002	0	2.519e-05	0	0.0047	0.0002	0.0006	3.478e-05	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0004	0	0.0001	0	0	0	0	0.0003	0.0009	0	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	.	.	.	.	.	.	.	.	.	.	.	.	0.851	0.84713	-0.0599	0.80995	T	0.373	0.73182	T	7	0.24267897	0.41468	T	0.106804	0.78259	D	.	.	.	.	0.371903410333	0.36803	0.865173144731121	0.86482	.	.	0.680520713329	0.64343	T	0.501331	0.82158	D	0.269967	0.80437	D	0.457429	0.93753	D	0.339549750089645	0.26606	T	0.995288	0.98392	D	0.4810885	0.65966	0.28459758	0.54459	0.4810885	0.65967	0.28459758	0.54458	-10.73	0.78156	D	.	.	0.312	0.59308	B	.;.	.;.	5.351767	0.89774	31	0.96713265898152223	0.30821	0.69059	0.34039	D	AEFDBHCI	0.505978	0.53690	D	0.51287177089997	0.67849	5.136998	0.490818065323159	0.67381	5.076275	0.99999999998717	0.74766	0.090766	0.02384	0	0.060609	0.00678	0	0.129117	0.03641	0	0.083433	0.02327	0	.	.	5.24	5.24	0.72863	1.359000	0.33717	.	.	0.676000	0.76740	0.993000	0.37899	1.000000	0.68203	0.725000	0.34934	0.0:0.0:0.8193:0.1807	11.412	0.49171	970	0.06235	Hydantoinaseoxoprolinase, N-terminal;Hydantoinaseoxoprolinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009567	0.005051	0.023098	0.002924	0.000000	0.008621	0.000000	0.000000	0.07143	1095.45	34	chr8	144059876	.	G	A	1095.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.548;DP=318;ExcessHet=0;FS=0.79;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=0.602;SOR=0.8	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1106,0,873	6	0	1	0
chr8	144109954	144109956	CTC	-	exonic	WDR97	.	nonframeshift deletion	WDR97:NM_001316309:exon5:c.1620_1622del:p.S542del	.	409	1109	4	0	0	4	0.00180018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	0.0001153	3	26028	rs754175553	0.0003	0.0003	0.0004	0.0003	0.0049	0.0003	0.0003	0.0033	0.0027	0.0013	0.0004	0	6.232e-05	0	0.0049	0.0003	0.0007	3.188e-05	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0002	0	0.0002	9.427e-05	0	0.0003	0.0014	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	840.45	40	chr8	144109953	.	TCTC	T	840.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.59;DP=350;ExcessHet=0;FS=3.349;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.194;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,24:74:99:0|1:144109944_A_G:851,0,2002:144109944	6	0	1	0
chr8	144397776	144397782	CCACTGC	-	exonic	CPSF1	.	frameshift deletion	CPSF1:NM_013291:exon21:c.2171_2177del:p.R724Pfs*83	.	409	1110	3	0	0	3	0.00134953	.	.	.	1290049	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0012	0.00239617	0.0005	0.0022	0.0006	0	0	0.0004	0	0	0.0001537	4	26028	rs545383870	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0055	0.0052	0.0062	0.0013	0.0020	0	0	0.0038	0.0002	0.0014	0	0.0017	0.0017	0.0019	0.0014	0.0048	0.0015	0.0014	0.0043	0.0041	0.0048	0	0.0009	0.0020	0	0	0.0136	0.0004	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1909.5	53	chr8	144397775	.	GCCACTGC	G	1909.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.416;DP=437;ExcessHet=0;FS=14.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=1.33;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,48:79:99:0|1:144397775_GCCACTGC_G:1920,0,1157:144397775	6	0	1	0
chr8	144397789	144397790	CG	-	exonic	CPSF1	.	frameshift deletion	CPSF1:NM_013291:exon21:c.2163_2164del:p.G723Pfs*14	.	408	1111	3	0	0	3	0.00134831	.	.	.	1290052	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.00239617	0.0004	0.0019	0.0006	0	0	0.0004	0	0	0.0003234	50	154602	rs562635122	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0055	0.0052	0.0062	0.0013	0.0020	0	0	0.0038	0.0002	0.0014	0	0.0017	0.0017	0.0019	0.0014	0.0048	0.0015	0.0014	0.0042	0.0040	0.0048	0	0.0009	0.0020	0	0	0.0136	0.0004	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1867.45	53	chr8	144397788	.	CCG	C	1867.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.737;DP=441;ExcessHet=0;FS=16.719;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.64;ReadPosRankSum=1.54;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,47:79:99:0|1:144397775_GCCACTGC_G:1878,0,1188:144397775	6	0	1	0
chr9	990235	990235	C	T	exonic	DMRT3	.	nonsynonymous SNV	DMRT3:NM_021240:exon2:c.C649T:p.R217C	.	432	1085	5	0	0	5	0.00229885	.	.	.	712103	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.074	.	0.0047	0.00199681	0.0043	0.0014	0.0026	0.0001	0.0056	0.0064	0.0044	0.0008	0.0044178	683	154602	rs61737966	0.0060	0.0060	0.0061	0.0058	0.0071	0.0059	0.0058	0.0070	0.0069	0.0008	0.0030	0.0016	0	0.0054	0.0009	0.0071	0.0048	0.0007	0.0047	0.0047	0.0049	0.0045	0.0078	0.0044	0.0043	0.0073	0.0070	0.0009	0	0.0044	0.0037	0.0002	0.0056	0	0.0078	0.0038	0.0002	0.149	0.32610	T	0.058	0.46182	T	0.002	0.09854	B	0.001	0.04355	B	0.130585	0.18653	N	0.471170	0.58522	0.32409	D	1.475	0.37068	L	1.45	0.32482	T	-2.9	0.81910	D	0.136	0.13341	-1.0133	0.25880	T	0.046	0.19599	T	10	0.00385046	0.00073	T	.	.	.	0.074	0.21613	.	.	0.522559126029	0.51901	0.13200103899700819	0.13125	0.103091269234	0.11663	0.245516985655	0.03310	T	0.290066	0.66284	T	-0.605483	0.00135	T	-0.637384	0.09861	T	0.0135820755752156	0.00251	T	0.661834	0.33613	T	0.08333289	0.19240	0.07840569	0.17557	0.08333289	0.19240	0.07840569	0.17556	-4.162	0.26199	T	.	.	0.071	0.15206	B	.;.	.;.	2.241591	0.28623	17.86	0.95433849134879789	0.26929	0.83768	0.42865	D	AEFBI	0.361137	0.45086	N	-0.401251304049237	0.25426	1.380115	-0.356390864428601	0.26312	1.452523	0.448340695626319	0.20517	0.487112	0.14033	0	0.563428	0.19063	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	4.8	1.49	0.21966	2.455000	0.44645	2.759000	0.34591	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.439000	0.27649	0.3549:0.5579:0.0:0.0872	7.736	0.27978	884	0.28482	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2342.53	33	chr9	990235	.	C	T	2342.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.03;DP=304;ExcessHet=0;FS=14.029;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.45;ReadPosRankSum=-0.548;SOR=0.375	GT:AD:DP:GQ:PL	0/1:43,84:127:99:2353,0,883	6	0	1	0
chr9	3247940	3247940	A	G	exonic	RFX3	.	nonsynonymous SNV	RFX3:NM_002919:exon15:c.T2060C:p.M687T	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0145938366805	0.0002	.	0.0001	0.0007	0	0	0	0.0001	0	0	0.0001229	19	154602	rs142651613	8.556e-05	8.551e-05	7.084e-05	0.0001	0.0036	7.317e-05	6.82e-05	0.0024	0.0021	0.0005	4.472e-05	0	0	0	0.0036	6.296e-05	0.0002	4.637e-05	0.0002	0.0002	0.0003	0.0002	0.0007	0.0002	0.0002	0.0005	0.0004	0.0007	0	6.539e-05	0	0	0	0.0034	0.0001	0.0005	0	0.0	0.91255	D	.	.	.	0.004	0.12183	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.35	0.58029	T	1.01	0.01387	N	0.189	0.20660	-1.0265	0.21593	T	0.086	0.33382	T	8	0.028851569	0.01014	T	0.014594	0.34806	T	0.025	0.05312	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.465736	0.00905	T	-0.541475	0.18151	T	0.0679720212323733	0.08364	T	0.237576	0.03341	T	.	.	.	.	.	.	.	.	-1.847	0.02653	T	.	.	0.086	0.10787	B	.	.	0.279664	0.06568	3.054	0.57940168201801856	0.05880	0.20072	0.20904	N	AEFBI	0.050105	0.08725	N	-0.901370223594901	0.10810	0.5184411	-0.946945259145271	0.10994	0.5573703	0.111058720252293	0.16649	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	4.49	1.82	0.24209	0.661000	0.24706	0.857000	0.22192	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.526000	0.29613	0.619:0.1624:0.0:0.2187	5.339	0.15280	801	0.44448	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1861.45	35	chr9	3247940	.	A	G	1861.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.231;DP=319;ExcessHet=0;FS=1.386;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-0.969;SOR=0.825	GT:AD:DP:GQ:PL	0/1:56,77:133:99:1872,0,1273	6	0	1	0
chr9	8485885	8485885	T	C	exonic	PTPRD	.	nonsynonymous SNV	PTPRD:NM_001377958:exon18:c.A2932G:p.T978A,PTPRD:NM_001378058:exon18:c.A2932G:p.T978A,PTPRD:NM_002839:exon28:c.A2932G:p.T978A	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.018855501301	0.0005	0.000599042	0.0003	0.0004	0.0005	0	0	0.0003	0.0022	0	0.0002523	39	154602	rs139259906	0.0003	0.0003	0.0002	0.0003	0.0049	0.0002	0.0002	0.0034	0.0030	0.0004	0.0005	0	0	0	0.0049	0.0002	0.0007	0.0001	0.0003	0.0003	0.0002	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	0.0002	0	0.0007	0	0	0	0.0034	0.0002	0.0009	0	0.241	0.17643	T	0.688	0.05958	T	0.441	0.35913	B	0.404	0.44625	B	0.000000	0.84330	D	0.049281	0.999959	0.81001	D	0.95	0.23787	L	0.33	0.58323	T	-0.33	0.12472	N	0.315	0.35727	-0.8841	0.49431	T	0.191	0.54374	T	9	0.03077069	0.01206	T	0.018856	0.41058	T	0.047	0.12962	.	.	0.216943180021	0.21308	0.37168234090399627	0.37082	.	.	0.328218221664	0.14665	T	0.092035	0.38921	T	-0.317459	0.07107	T	-0.353235	0.38835	T	0.00478057330474257	0.00051	T	.	.	.	0.0818226	0.18821	0.07537629	0.16589	0.0818226	0.18820	0.07537629	0.16588	-5.638	0.43138	T	.	.	0.077	0.06295	B	.;.;.	.;.;.	2.446026	0.31491	18.76	0.96052369682002114	0.28567	0.85092	0.44197	D	AEFGBCI	0.709516	0.66358	D	-0.0843858485772074	0.38076	2.22466	0.0501453697458789	0.42080	2.538941	0.999578175038588	0.40495	0.719381	0.83141	0	0.573888	0.26702	0	0.723133	0.82415	0	0.564101	0.26826	0	.	.	5.48	4.33	0.51083	2.355000	0.43761	1.763000	0.28569	-0.121000	0.13915	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.1655:0.0:0.0:0.8345	10.910	0.46316	610	0.67008	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.010101	0.009511	0.005848	0.000000	0.000000	0.006098	0.000000	0.1429	2352.65	38	chr9	8485885	.	T	C	2352.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.271;DP=323;ExcessHet=0.3476;FS=0.579;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.038;SOR=0.644	GT:AD:DP:GQ:PL	0/1:37,51:88:99:1198,0,998	5	0	2	0
chr9	13224442	13224442	C	A	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon4:c.G325T:p.G109C,MPDZ:NM_001261407:exon4:c.G325T:p.G109C,MPDZ:NM_001330637:exon4:c.G325T:p.G109C,MPDZ:NM_001375413:exon4:c.G325T:p.G109C,MPDZ:NM_001375416:exon4:c.G325T:p.G109C,MPDZ:NM_001375417:exon4:c.G325T:p.G109C,MPDZ:NM_001375419:exon4:c.G325T:p.G109C,MPDZ:NM_001375420:exon4:c.G325T:p.G109C,MPDZ:NM_001375422:exon4:c.G325T:p.G109C,MPDZ:NM_001375424:exon4:c.G325T:p.G109C,MPDZ:NM_001375425:exon4:c.G325T:p.G109C,MPDZ:NM_001375426:exon4:c.G325T:p.G109C,MPDZ:NM_001375427:exon4:c.G325T:p.G109C,MPDZ:NM_001378778:exon4:c.G325T:p.G109C,MPDZ:NM_003829:exon4:c.G325T:p.G109C,MPDZ:NM_001375418:exon5:c.G325T:p.G109C,MPDZ:NM_001375421:exon5:c.G325T:p.G109C,MPDZ:NM_001375423:exon5:c.G325T:p.G109C	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	430	1079	12	1	0	14	0.00644567	.	.	.	700851	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.080	.	0.0051	0.00359425	0.0065	0.0010	0.0006	0	0.0338	0.0074	0.0122	0.0022	0.0059443	919	154602	rs61753782	0.0063	0.0063	0.0064	0.0062	0.0059	0.0062	0.0061	0.0058	0.0058	0.0010	0.0007	0.0140	0	0.0291	0.0026	0.0059	0.0061	0.0025	0.0066	0.0066	0.0053	0.0081	0.0070	0.0063	0.0062	0.0065	0.0062	0.0006	0	0.0015	0.0150	0	0.0387	0	0.0070	0.0014	0.0048	0.08	0.33585	T	0.053	0.47581	T	0.99	0.63424	D	0.805	0.58399	P	0.666445	0.10381	N	0.818882	1	0.08975	N	1.87	0.49600	L	2.85	0.10975	T	-1.72	0.41046	N	0.254	0.33904	-1.0309	0.20163	T	0.013	0.05273	T	10	0.004137218	0.00081	T	.	.	.	0.080	0.23350	.	.	0.201204373187	0.19734	0.3860454334519855	0.38519	.	.	0.259814798832	0.04868	T	0.057352	0.30543	T	-0.62034	0.00109	T	-0.656745	0.08488	T	0.0157164782314785	0.00363	T	0.634537	0.24876	T	0.12235089	0.28754	0.06814197	0.14193	0.08906875	0.20798	0.06814197	0.14193	-5.095	0.37855	T	.	.	0.098	0.16099	B	.;.;.;.;.;.	.;.;.;.;.;.	1.081421	0.14642	11.20	0.9910216269503388	0.52496	0.14523	0.18448	N	AEFBCI	0.123338	0.23890	N	-0.721161791486045	0.15427	0.7773987	-0.902604015683666	0.12033	0.6166177	0.130719522019321	0.17084	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.72	-2.87	0.05359	-0.817000	0.04579	-1.458000	0.05393	-0.805000	0.03119	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.2336:0.2794:0.0:0.487	4.865	0.12966	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	911.45	35	chr9	13224442	.	C	A	911.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.41;DP=239;ExcessHet=0;FS=1.938;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.32;ReadPosRankSum=-0.281;SOR=0.958	GT:AD:DP:GQ:PL	0/1:38,36:74:99:922,0,875	6	0	1	0
chr9	34621463	34621463	G	A	exonic	ARID3C	.	nonsynonymous SNV	ARID3C:NM_001017363:exon7:c.C1234T:p.P412S,ARID3C:NM_001371945:exon7:c.C1051T:p.P351S	.	423	1097	2	0	0	2	0.000910747	.	.	.	2340606	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.00849723246432	.	.	8.797e-05	0	0.0002	0	0	0.0001	0	6.575e-05	6.47e-05	10	154602	rs745643006	8.234e-05	8.346e-05	7.512e-05	8.969e-05	0.0009	6.958e-05	6.535e-05	0.0004	0.0002	0.0002	0.0003	0	0	0	0.0009	7.321e-05	0.0002	5.641e-05	7.232e-05	7.219e-05	9.003e-05	5.38e-05	0.0001	3.973e-05	3.129e-05	5.845e-05	4.241e-05	0	0	6.544e-05	0	0	0	0.0034	0.0001	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	0.003	0.11197	B	0.001	0.04355	B	0.068636	0.21659	N	0.337827	0.999448	0.21182	N	0.695	0.17993	N	0.7	0.51474	T	0.79	0.01893	N	0.204	0.22614	-1.0262	0.21690	T	0.071	0.28871	T	10	0.057657063	0.06656	T	0.008497	0.22482	T	0.055	0.15663	.	.	0.0846915920261	0.08053	0.6534709493004769	0.65283	0.259062600134	0.28458	0.47923412919	0.35951	T	0.002168	0.01566	T	-0.412721	0.01907	T	-0.545908	0.17721	T	0.0663111175717987	0.08124	T	0.29797	0.05545	T	0.04018355	0.05690	0.08653984	0.20057	0.04018355	0.05689	0.08653984	0.20057	-3.953	0.23098	T	.	.	0.083	0.09143	B	.	.	2.252082	0.28770	17.91	0.85696856639027652	0.16055	0.64174	0.32322	D	AEFBI	0.165406	0.29190	N	-0.846389609474847	0.12139	0.5898839	-0.802591475709753	0.14433	0.7540878	0.999692066297346	0.41870	0.516011	0.20929	0	0.59043	0.45803	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	4.37	1.5	0.22029	1.083000	0.30427	3.227000	0.36886	-0.124000	0.13482	0.895000	0.31310	1.000000	0.68203	0.122000	0.19250	0.316:0.0:0.684:0.0	6.403	0.20853	270	0.89404	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002016	0.000000	0.002717	0.008772	0.000000	0.008621	0.003067	0.000000	0.07143	587.83	34	chr9	34621463	.	G	A	587.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.024;DP=237;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.049;SOR=0.711	GT:AD:DP:GQ:PL	0/1:34,23:57:99:598,0,950	6	0	1	0
chr9	34662626	34662626	C	T	exonic	CCL27	.	nonsynonymous SNV	CCL27:NM_006664:exon1:c.G8A:p.G3E	.	430	1086	6	0	0	6	0.00275482	.	.	.	2340617	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.0267838976704	0.0002	.	0.0003	9.72e-05	0.0002	0	0	0.0005	0.0011	0	0.0003169	49	154602	rs141733148	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0.0002	0.0005	0.0007	0	0	0.0014	0.0003	0.0006	9.299e-05	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.815e-05	0	6.535e-05	0.0006	0	0	0	0.0003	0.0014	0	0.0	0.91255	D	0.0	0.92824	D	0.009	0.15093	B	0.007	0.12992	B	0.433785	0.12715	N	0.694155	0.999737	0.20548	N	1.095	0.27400	L	0.63	0.53088	T	-1.56	0.37759	N	0.315	0.35514	-1.0042	0.28696	T	0.086	0.33466	T	10	0.036081046	0.01888	T	0.026784	0.49666	D	0.027	0.05988	.	.	0.39798585902	0.39410	0.2452633769556556	0.24440	0.459284414605	0.45515	0.445302456617	0.31302	T	0.066577	0.32981	T	-0.446609	0.01182	T	-0.534361	0.18854	T	0.0295718856622654	0.01924	T	0.455954	0.13062	T	0.17936596	0.39004	0.1592614	0.37152	0.17936596	0.39003	0.1592614	0.37151	-5.482	0.41700	T	.	.	0.085	0.10304	B	.	.	1.873757	0.23803	16.16	0.98073718174729441	0.38046	0.04565	0.10208	N	AEFDGBI	0.075920	0.15260	N	-0.914608664459168	0.10500	0.5020374	-0.911542580719699	0.11822	0.6045836	0.999996137205169	0.74766	0.559995	0.30671	0	0.624146	0.53433	0	0.514364	0.09456	0	0.613276	0.41899	0	.	.	4.02	1.22	0.20300	0.638000	0.24363	-0.051000	0.12545	-0.294000	0.06260	0.365000	0.25883	0.000000	0.08366	0.451000	0.27917	0.0:0.6705:0.0:0.3295	5.896	0.18184	344	0.85734	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.006793	0.008772	0.000000	0.017241	0.003049	0.000000	0.07143	1602.44	37	chr9	34662626	.	C	T	1602.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.101;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.424;SOR=0.737	GT:AD:DP:GQ:PL	0/1:57,67:124:99:1613,0,1306	6	0	1	0
chr9	36191267	36191267	G	A	exonic	CLTA	.	nonsynonymous SNV	CLTA:NM_001076677:exon1:c.G211A:p.G71S,CLTA:NM_001184760:exon1:c.G211A:p.G71S,CLTA:NM_001184761:exon1:c.G211A:p.G71S,CLTA:NM_001184762:exon1:c.G211A:p.G71S,CLTA:NM_001311204:exon1:c.G211A:p.G71S,CLTA:NM_001311205:exon1:c.G211A:p.G71S,CLTA:NM_001833:exon1:c.G211A:p.G71S,CLTA:NM_007096:exon1:c.G211A:p.G71S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0118329771341	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773671483	2.188e-06	3.42e-06	1.439e-06	2.957e-06	1.292e-05	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.322e-07	1.755e-05	1.292e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.21968	T	0.117	0.36365	T	0.181	0.33602	B	0.287	0.40572	B	0.031339	0.25183	N	0.403800	0.99972	0.48557	D	0.995	0.25082	L	.	.	.	-0.64	0.27052	N	0.221	0.24758	-1.0000	0.29917	T	0.156	0.48772	T	9	0.10524717	0.19445	T	0.011833	0.29841	T	0.016	0.02506	0.342	0.33464	0.375026046212	0.37117	0.408604963086329	0.40776	0.524585786375	0.50140	0.616082429886	0.55175	T	0.175988	0.52577	T	-0.123376	0.32572	T	-0.414997	0.31651	T	0.289393782615662	0.24564	T	0.864814	0.56401	D	0.13116068	0.30582	0.18085505	0.40911	0.13116068	0.30581	0.18085505	0.40910	-3.772	0.48944	T	.	.	0.095	0.14979	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.478310	0.31957	18.90	0.99770795300938642	0.85918	0.77531	0.38131	D	AEFDGBCI	0.464554	0.51300	N	-0.179248646335849	0.33999	1.935432	-0.0483006490464925	0.37564	2.201118	0.99999999988205	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.41	3.58	0.40133	1.333000	0.33421	4.931000	0.46129	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.995000	0.73285	0.1655:0.0:0.8345:0.0	10.013	0.41171	444	0.79803	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	520.27	30	chr9	36191267	.	G	A	520.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.572;DP=209;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.498;SOR=0.848	GT:AD:DP:GQ:PL	0/1:15,21:36:99:530,0,329	5	0	1	1
chr9	81993974	81993974	C	A	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C3504A:p.S1168R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0027	0.00259585	0.0010	0.0107	0.0009	0	0	0.0001	0.0011	0	0.0009056	140	154602	rs200318604	0.0003	0.0003	0.0004	0.0003	0.0104	0.0003	0.0003	0.0095	0.0092	0.0104	0.0007	0	0	0	0.0005	5.397e-05	0.0009	9.275e-05	0.0030	0.0030	0.0031	0.0028	0.0102	0.0027	0.0026	0.0094	0.0091	0.0102	0	0.0010	0	0	0	0	7.349e-05	0.0028	0.0002	0.029	0.45756	D	0.029	0.54541	D	0.395	0.34724	B	0.1	0.30674	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	3.32	0.06214	T	-1.26	0.31778	N	0.139	0.13769	-0.9548	0.40131	T	0.008	0.02801	T	9	0.0045711994	0.00095	T	.	.	.	0.009	0.00846	0.33	0.31519	0.143124449307	0.13826	0.09651886701953749	0.09583	.	.	0.322959303856	0.13869	T	0.003366	0.02768	T	-0.64887	0.00074	T	-0.6973	0.05974	T	0.00791377463802117	0.00093	T	0.433057	0.11799	T	0.07213007	0.16023	0.065654285	0.13339	0.07213007	0.16023	0.065654285	0.13338	-4.655	0.32855	T	.	.	0.302	0.53119	B	.	.	0.533371	0.09019	5.803	0.57509889115980373	0.05785	0.02977	0.07825	N	AEFBHCI	0.031355	0.03337	N	-1.08678749981972	0.06885	0.3182832	-1.21007364767154	0.05747	0.2747129	1.35127458274603E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.75	-0.382	0.11860	-0.232000	0.09068	-5.799000	0.01592	-1.101000	0.01509	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2394:0.4714:0.0:0.2892	2.367	0.04057	921	0.19240	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004073	0.000000	0.005435	0.011834	0.000000	0.000000	0.006289	0.000000	0.07143	1597.45	46	chr9	81993974	.	C	A	1597.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.483;DP=433;ExcessHet=0;FS=1.316;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=1.28;SOR=0.76	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1608,0,1939	6	0	1	0
chr9	88131340	88131340	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G1697A:p.R566H,SPATA31C2:NM_001350978:exon4:c.G1697A:p.R566H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs764116023	1.302e-05	1.3e-05	1.772e-05	8.263e-06	1.529e-05	8.33e-06	6.71e-06	9.31e-06	7.61e-06	0	0	0	0	1.872e-05	0	1.529e-05	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2412.44	45	chr9	88131340	.	C	T	2412.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.892;DP=397;ExcessHet=0;FS=0.54;MLEAC=1;MLEAF=0.071;MQ=52.78;MQRankSum=-2.894;QD=12.76;ReadPosRankSum=-1.139;SOR=0.617	GT:AD:DP:GQ:PL	0/1:92,97:189:99:2423,0,2106	6	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	4599.95	248	chr9	92080918	.	G	C	4599.95	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.454;DP=1972;ExcessHet=14.2834;FS=456.727;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.555;SOR=12.059	GT:AD:DP:GQ:PL	0/1:191,147:352:99:1099,0,2584	0	0	7	0
chr9	95467406	95467406	A	G	exonic	PTCH1	.	nonsynonymous SNV	PTCH1:NM_001354918:exon14:c.T2114C:p.F705S,PTCH1:NM_000264:exon15:c.T2270C:p.F757S,PTCH1:NM_001083602:exon15:c.T2072C:p.F691S,PTCH1:NM_001083603:exon15:c.T2267C:p.F756S,PTCH1:NM_001083604:exon15:c.T1817C:p.F606S,PTCH1:NM_001083605:exon15:c.T1817C:p.F606S,PTCH1:NM_001083606:exon15:c.T1817C:p.F606S,PTCH1:NM_001083607:exon15:c.T1817C:p.F606S	Basal cell carcinoma, somatic;Basal cell nevus syndrome, Autosomal dominant;Holoprosencephaly 7, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	240674	Basal_cell_nevus_syndrome_1|Basal_cell_carcinoma,_susceptibility_to,_1|Holoprosencephaly_7|not_provided|PTCH1-related_disorder|Gorlin_syndrome|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0958174,MedGen:CN376810,OMIM:109400|MONDO:MONDO:0011556,MedGen:C2751544,OMIM:605462|MONDO:MONDO:0012562,MedGen:C1835820,OMIM:610828,Orphanet:2162|MedGen:C3661900|.|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:PS109400,Orphanet:377|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.876	0.307613213061	.	0.00119808	0.0004	0	0	0	0	3.03e-05	0.0011	0.0030	0.0003881	60	154602	rs547954117	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0	0	0.0012	5.396e-06	0.0002	0.0027	9.848e-05	9.842e-05	3.855e-05	0.0002	0.0029	6.002e-05	4.876e-05	0.0018	0.0014	0	0	0	0	0	0	0	1.47e-05	0	0.0029	0.016	0.53900	D	0.002	0.79402	D	0.771	0.60733	P	0.444	0.56004	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.47	0.71715	M	-2.18	0.86722	D	-5.83	0.89985	D	0.888	0.99015	0.534	0.91023	D	0.710	0.90035	D	10	0.098285735	0.17760	T	0.307613	0.91084	D	0.876	0.96317	0.793	0.91438	0.748426123148	0.74615	0.8726757282460414	0.87233	1.75645652472	0.91059	0.856840848923	0.90642	D	0.822491	0.95674	D	0.0902269	0.63215	D	0.352213	0.90402	D	0.165118882484904	0.18242	T	0.822218	0.48435	T	0.8650657	0.88475	0.6702785	0.80654	0.8650657	0.88476	0.6702785	0.80655	-9.988	0.82110	D	0.37847853586227226	0.47320	0.775	0.83224	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.748109	0.76647	26.6	0.9984527808802004	0.92489	0.99465	0.96365	D	AEFDBI	0.818646	0.73985	D	0.636453508184365	0.75495	6.316049	0.630600119171971	0.77173	6.628679	0.999999652491708	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	5.49	4.28	0.50183	7.020000	0.76158	9.186000	0.79105	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8574:0.1426:0.0:0.0	12.178	0.53505	358	0.85037	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	730.63	37	chr9	95467406	.	A	G	730.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.855;DP=260;ExcessHet=0;FS=1.041;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.475;SOR=0.547	GT:AD:DP:GQ:PL	0/1:30,33:63:99:741,0,822	6	0	1	0
chr9	96760122	96760122	A	C	exonic	ZNF510	.	nonsynonymous SNV	ZNF510:NM_001314060:exon5:c.T522G:p.N174K,ZNF510:NM_001314059:exon6:c.T708G:p.N236K,ZNF510:NM_014930:exon6:c.T708G:p.N236K	.	520	997	5	0	0	5	0.00250125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0030	0.00259585	0.0034	0.0014	0.0136	0	0	0.0033	0.0022	0.0012	0.0033764	522	154602	rs61735010	0.0042	0.0042	0.0043	0.0041	0.0101	0.0041	0.0041	0.0093	0.0090	0.0007	0.0101	0.0017	0	0.0004	0.0016	0.0047	0.0043	0.0012	0.0028	0.0028	0.0031	0.0025	0.0044	0.0026	0.0025	0.0039	0.0038	0.0013	0	0.0042	0.0009	0	0.0002	0	0.0044	0.0024	0.0006	0.142	0.25457	T	0.173	0.30143	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.365	0.12025	N	3.44	0.05375	T	-1.2	0.30555	N	0.049	0.02088	-0.9415	0.42378	T	0.007	0.02518	T	9	0.0055224895	0.00122	T	.	.	.	0.016	0.02506	0.261	0.20473	0.264081493735	0.26024	0.017715430551530204	0.01726	0.179925730658	0.20241	0.256786078215	0.04516	T	0.006439	0.05872	T	-0.761065	0.00015	T	-0.855605	0.00892	T	0.000713611186763029	0.00006	T	0.125387	0.00975	T	0.06302403	0.13228	0.06268036	0.12302	0.06302403	0.13227	0.06268036	0.12301	-4.879	0.35498	T	.	.	0.179	0.44605	B	.;.	.;.	1.091295	0.14752	11.29	0.66503851692972349	0.08078	0.00200	0.01150	N	AEGBCI	0.060798	0.11579	N	-1.06115464834735	0.07369	0.3421651	-1.10706403557351	0.07565	0.3684346	0.00106228185871769	0.08183	0.562547	0.31514	0	0.653731	0.59785	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	3.57	-0.237	0.12417	-1.201000	0.03135	-3.265000	0.02923	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.478000	0.28520	0.5651:0.0:0.1006:0.3343	3.691	0.07880	766	0.49742	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	844.46	37	chr9	96760122	.	A	C	844.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.644;DP=231;ExcessHet=0;FS=2.093;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.62;ReadPosRankSum=1.24;SOR=0.465	GT:AD:DP:GQ:PL	0/1:30,32:62:99:855,0,873	6	0	1	0
chr9	98199422	98199422	C	T	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon7:c.G1366A:p.E456K,TBC1D2:NM_001267571:exon13:c.G2746A:p.E916K,TBC1D2:NM_018421:exon13:c.G2713A:p.E905K	.	403	1078	40	1	0	42	0.0191083	.	.	.	701105	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.028	.	0.0070	0.00399361	0.0078	0.0025	0.0040	0	0.0074	0.0093	0.0056	0.0119	0.0075872	1173	154602	rs34769888	0.0071	0.0071	0.0068	0.0074	0.0154	0.0070	0.0069	0.0128	0.0118	0.0013	0.0042	0.0184	5.038e-05	0.0071	0.0154	0.0070	0.0073	0.0119	0.0060	0.0060	0.0061	0.0058	0.0151	0.0056	0.0055	0.0123	0.0113	0.0018	0.0022	0.0039	0.0210	0.0004	0.0057	0.0034	0.0081	0.0047	0.0151	0.016	0.51853	D	0.143	0.35840	T	0.306	0.35621	B	0.017	0.23607	B	0.089520	0.20424	N	0.512441	0.999997	0.58761	D	2.3	0.65703	M	3.11	0.08810	T	-1.28	0.32185	N	0.092	0.07811	-0.9873	0.33273	T	0.013	0.05177	T	10	0.003650248	0.00067	T	.	.	.	0.028	0.06331	.	.	0.371903410333	0.36803	0.30874163509496355	0.30787	0.338595813605	0.35820	0.383564561605	0.22761	T	0.006655	0.06077	T	-0.519326	0.00444	T	-0.508364	0.21483	T	0.0119895157421694	0.00189	T	0.741226	0.36032	T	0.047576625	0.08154	0.09102525	0.21379	0.047576625	0.08154	0.09102525	0.21379	-6.171	0.47687	T	.	.	0.074	0.08224	B	.;.;.;.	.;.;.;.	2.443220	0.31445	18.74	0.99390375900233052	0.62292	0.80830	0.40369	D	AEFBI	0.225969	0.34998	N	-0.584721243569984	0.19409	1.015525	-0.599587913781034	0.19504	1.046703	0.998571519230402	0.37226	0.706298	0.61202	0	0.633656	0.55848	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.34	3.5	0.39181	0.450000	0.21475	1.389000	0.26100	0.580000	0.29708	0.018000	0.19461	0.879000	0.27682	0.035000	0.13729	0.0:0.8294:0.0:0.1706	9.281	0.36888	630	0.65016	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015106	0.000000	0.012228	0.005848	0.000000	0.008621	0.033537	0.037879	0.07143	480.53	30	chr9	98199422	.	C	T	480.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.136;DP=222;ExcessHet=0;FS=8.007;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.43;ReadPosRankSum=-1.123;SOR=0.165	GT:AD:DP:GQ:PL	0/1:35,22:57:99:491,0,956	6	0	1	0
chr9	100442207	100442207	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G269A:p.R90K,MSANTD3:NM_001198805:exon2:c.G269A:p.R90K,MSANTD3:NM_001198806:exon2:c.G269A:p.R90K,MSANTD3:NM_001198807:exon2:c.G269A:p.R90K,MSANTD3:NM_080655:exon2:c.G269A:p.R90K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.00611623825291	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887867357	5.473e-05	5.472e-05	6.398e-05	4.538e-05	7.014e-05	4.477e-05	4.147e-05	5.71e-05	5.28e-05	0	0	0	0	0	0	7.014e-05	1.656e-05	1.159e-05	2.631e-05	2.627e-05	2.571e-05	2.692e-05	5.881e-05	8.15e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.035	0.43708	D	0.0	0.92824	D	0.956	0.54666	P	0.899	0.63802	P	.	.	.	.	0.564341	0.32240	D	0.895	0.22405	L	.	.	.	-0.82	0.27876	N	0.477	0.51226	-0.6245	0.63802	T	0.222	0.58498	T	8	0.31768113	0.49176	T	0.006116	0.15993	T	0.151	0.39764	0.475	0.55182	0.259761712551	0.25597	0.7697746890755183	0.76926	1.3389385424	0.83804	0.849319815636	0.89511	D	0.180021	0.53122	T	0.0898806	0.63177	D	-0.0931832	0.63920	T	0.740648984909058	0.42772	D	0.881612	0.60904	D	0.19164935	0.40801	0.2405909	0.49437	0.19164935	0.40801	0.2405909	0.49436	-3.715	0.22333	T	.	.	0.352	0.76201	A	.;.;.;.;.;.	.;.;.;.;.;.	4.705657	0.75548	26.4	0.99690172554301759	0.79909	0.96078	0.67433	D	AEFDBHIJ	0.832475	0.75084	D	0.499267143420186	0.67048	5.029901	0.537054017540039	0.70500	5.514668	0.999999921675007	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.681000	0.74356	9.815000	0.81770	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8596:0.1404	15.365	0.74231	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	284.75	34	chr9	100442207	.	G	A	284.75	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.191;DP=315;ExcessHet=0.3476;FS=194.488;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.99;ReadPosRankSum=1.98;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,17:75:99:0|1:100442207_G_A:203,0,2189:100442207	4	0	2	1
chr9	100442209	100442209	G	A	exonic	MSANTD3;MSANTD3-TMEFF1	.	nonsynonymous SNV	MSANTD3-TMEFF1:NM_001198812:exon1:c.G271A:p.E91K,MSANTD3:NM_001198805:exon2:c.G271A:p.E91K,MSANTD3:NM_001198806:exon2:c.G271A:p.E91K,MSANTD3:NM_001198807:exon2:c.G271A:p.E91K,MSANTD3:NM_080655:exon2:c.G271A:p.E91K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.0055681647514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301280836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.626e-06	6.589e-06	1.295e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.011	0.55530	D	0.068	0.44106	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991125	0.41313	D	0.345	0.11182	N	.	.	.	-1.85	0.43334	N	0.659	0.66873	-0.9302	0.44109	T	0.162	0.49831	T	8	0.362716	0.52860	T	0.005568	0.14379	T	0.334	0.65620	0.24	0.17218	0.128392430309	0.12331	0.7185358234044404	0.71796	0.53005267504	0.50556	0.852187097073	0.89944	D	0.250845	0.62101	T	0.312691	0.83945	D	0.211382	0.83736	D	0.699628472328186	0.40701	D	0.952805	0.82399	D	0.24373437	0.47315	0.28995815	0.55017	0.24373437	0.47315	0.28995815	0.55017	-7.936	0.64410	D	.	.	0.624	0.83259	P	.;.;.;.;.;.	.;.;.;.;.;.	4.205833	0.63499	24.6	0.99816656266768622	0.89973	0.96187	0.67934	D	AEFDBHIJ	0.810217	0.73352	D	-0.0997318424787354	0.37404	2.175666	0.111830775840215	0.45151	2.783557	0.999999923427681	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.92	5.01	0.66477	6.802000	0.74964	9.928000	0.82558	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1345:0.8655:0.0	16.026	0.80343	312	0.87382	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	237.73	25	chr9	100442209	.	G	A	237.73	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.332;DP=312;ExcessHet=0.3476;FS=194.645;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.62;ReadPosRankSum=1.89;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,15:77:99:.:.:168,0,2283:.	5	0	1	1
chr9	101737634	101737634	C	T	exonic	GRIN3A	.	nonsynonymous SNV	GRIN3A:NM_133445:exon1:c.G346A:p.G116S	.	424	1092	6	0	0	6	0.00273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00560010241719	0.0021	0.000199681	0.0017	0.0003	0.0012	0	0.0002	0.0026	0.0015	0.0006	0.0013777	213	154602	rs111415222	0.0018	0.0017	0.0018	0.0017	0.0049	0.0017	0.0017	0.0035	0.0030	0.0004	0.0008	0.0011	0	1.941e-05	0.0049	0.0021	0.0016	0.0005	0.0010	0.0010	0.0012	0.0009	0.0017	0.0009	0.0008	0.0015	0.0014	0.0003	0	0.0008	0.0009	0	9.42e-05	0	0.0017	0.0028	0.0006	0.361	0.11882	T	0.826	0.03761	T	0.001	0.07471	B	0.002	0.06944	B	0.660275	0.10433	N	0.828705	1	0.08975	N	0.345	0.11182	N	2.97	0.09450	T	-0.13	0.08971	N	0.063	0.03502	-1.0063	0.28065	T	0.021	0.08686	T	10	0.0053530037	0.00117	T	0.006	0.14469	T	0.036	0.09122	.	.	0.449764926163	0.44596	0.2858897877120674	0.28501	1.49091156634	0.86874	0.591523945332	0.51709	T	0.019508	0.15531	T	-0.637664	0.00086	T	-0.694594	0.06126	T	0.0112965726492547	0.00167	T	0.674733	0.28305	T	0.06613353	0.14201	0.092252426	0.21731	0.06613353	0.14201	0.092252426	0.21731	-4.821	0.34835	T	.	.	0.080	0.07841	B	.	.	0.487741	0.08571	5.336	0.95040572100845178	0.26046	0.03633	0.08878	N	AEFDBCI	0.051638	0.09141	N	-0.712701061573313	0.15664	0.7913991	-0.678992227102204	0.17486	0.9300331	0.932028709515217	0.27072	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.12	3.19	0.35720	0.680000	0.24986	0.389000	0.17868	0.596000	0.33519	0.000000	0.06391	0.026000	0.21063	0.009000	0.08673	0.0:0.7586:0.0:0.2414	8.802	0.34075	824	0.40336	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1696.45	46	chr9	101737634	.	C	T	1696.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.912;DP=366;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.334;SOR=0.755	GT:AD:DP:GQ:PL	0/1:71,71:142:99:1707,0,1818	6	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	647.45	71	chr9	106974250	.	T	C	647.45	.	AC=5;AF=0.5;AN=10;BaseQRankSum=-3.424;DP=793;ExcessHet=6.1542;FS=213.033;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=2.55;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,26:138:99:0|1:106974250_T_C:189,0,4043:106974250	0	0	5	2
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1936.53	71	chr9	106974252	.	G	A	1936.53	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.743;DP=654;ExcessHet=1.383;FS=265.935;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=4.14;ReadPosRankSum=2.19;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,26:138:99:0|1:106974250_T_C:189,0,4043:106974250	3	0	3	1
chr9	114343791	114343791	T	C	exonic	AKNA	.	nonsynonymous SNV	AKNA:NM_001317952:exon18:c.A3317G:p.H1106R,AKNA:NM_001317950:exon19:c.A3674G:p.H1225R,AKNA:NM_030767:exon19:c.A3674G:p.H1225R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0025248519689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.368e-06	0	1.384e-06	2.534e-05	0	0	.	.	0	0	0	2.534e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.16412	T	0.712	0.13912	T	0.005	0.12996	B	0.003	0.08700	B	0.527080	0.11678	N	0.765375	1	0.08975	N	1.295	0.32453	L	2.55	0.19726	T	-2.71	0.77881	D	0.207	0.31925	-0.9616	0.38877	T	0.030	0.12935	T	10	0.08855426	0.15258	T	0.002525	0.05037	T	0.043	0.11576	0.452	0.51448	0.524533156562	0.52098	0.42345681718948996	0.42262	0.0808623515177	0.09103	0.306526899338	0.11382	T	0.007984	0.07346	T	-0.304865	0.08207	T	-0.675694	0.07248	T	0.0305703091389252	0.02079	T	0.522748	0.17058	T	0.05599487	0.10958	0.07951147	0.17905	0.05599487	0.10958	0.07951147	0.17905	-2.176	0.03925	T	.	.	0.070	0.10739	B	.;.;.;.;.	.;.;.;.;.	-0.226970	0.02955	0.437	0.42711339111313235	0.03167	0.06556	0.12569	N	AEFDGBCI	0.029522	0.02802	N	-1.04061875551037	0.07772	0.3622186	-1.06040235983419	0.08490	0.4177554	0.999986391302759	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.1	0.487	0.16050	-0.354000	0.07731	-3.229000	0.02952	-0.109000	0.15193	0.012000	0.18695	0.000000	0.08366	0.052000	0.15357	0.0:0.3134:0.0:0.6866	6.193	0.19748	684	0.59539	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	728.49	33	chr9	114343791	.	T	C	728.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.18;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.36;ReadPosRankSum=-0.04;SOR=0.723	GT:AD:DP:GQ:PL	0/1:62,37:99:99:739,0,1485	6	0	1	0
chr9	121773247	121773247	C	T	exonic	DAB2IP	.	nonsynonymous SNV	DAB2IP:NM_138709:exon10:c.C2347T:p.R783W,DAB2IP:NM_032552:exon12:c.C2635T:p.R879W	.	382	1138	2	0	0	2	0.000877963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	.	0.0063	0.00299521	0.0049	0.0021	0.0052	0	0.0541	0.0099	0.0159	0.0012	0.0035316	546	154602	rs56200518	0.0089	0.0087	0.0091	0.0086	0.0105	0.0087	0.0087	0.0103	0.0103	0.0013	0.0019	0.0007	0	0.0108	0.0008	0.0105	0.0054	0.0015	0.0059	0.0059	0.0062	0.0057	0.0100	0.0056	0.0055	0.0094	0.0092	0.0019	0.0055	0.0014	0.0003	0.0002	0.0089	0	0.0100	0.0052	0.0012	0.004	0.65419	D	0.017	0.60337	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.998793	0.48338	D	3.245	0.89746	M	2.57	0.13552	T	-3.82	0.71997	D	0.773	0.77039	-1.0874	0.05978	T	0.069	0.28147	T	10	0.008497626	0.00192	T	.	.	.	0.248	0.55615	.	.	0.586360121981	0.58309	0.6143580991708928	0.61367	0.676827167386	0.59798	0.919709444046	0.98301	D	0.276945	0.64954	T	-0.270245	0.11730	T	-0.149933	0.59250	T	0.0534955095472123	0.06103	T	0.984002	0.94786	D	0.2588213	0.48933	0.21386802	0.45915	0.2588213	0.48933	0.21386802	0.45914	-6.637	0.51357	T	.	.	0.723	0.73897	P	.;.;.;.;.	.;.;.;.;.	3.712730	0.53010	23.3	0.99870744953052681	0.94815	0.59337	0.30887	D	AEFBI	0.397353	0.47346	N	-0.0127095283675204	0.41281	2.466332	-0.208441860682112	0.31230	1.765591	0.999773461258034	0.42865	0.706548	0.73137	0	0.610034	0.51514	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.67	1.26	0.20534	1.064000	0.30189	1.515000	0.27051	0.549000	0.26987	0.827000	0.30089	0.783000	0.26796	0.933000	0.47100	0.5356:0.4644:0.0:0.0	13.064	0.58433	962	0.08456	.;Domain of unknown function DUF3498;Domain of unknown function DUF3498;.;.	TRAF1	Cells_Cultured_fibroblasts	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002070	0.000000	0.001385	0.005952	0.000000	0.000000	0.003185	0.000000	0.07143	890.44	34	chr9	121773247	.	C	T	890.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.704;DP=275;ExcessHet=0;FS=4.165;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.087;SOR=0.469	GT:AD:DP:GQ:PL	0/1:44,39:83:99:901,0,1082	6	0	1	0
chr9	127507219	127507219	C	A	exonic	NIBAN2	.	nonsynonymous SNV	NIBAN2:NM_001035534:exon14:c.G1828T:p.V610F,NIBAN2:NM_022833:exon14:c.G1867T:p.V623F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0446255213125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.004	0.74150	D	0.934	0.52202	P	0.723	0.54990	P	0.000002	0.62929	D	0.057830	0.989748	0.41014	D	2.83	0.82355	M	1.46	0.32238	T	-2.05	0.47008	N	0.449	0.48780	-1.0183	0.24269	T	0.119	0.41669	T	10	0.28260434	0.45839	T	0.044626	0.61582	D	0.142	0.37995	0.265	0.21103	0.373357554552	0.36949	0.6499508387840695	0.64931	1.02440607633	0.75223	0.766363382339	0.76880	T	0.17411	0.52321	T	-0.0632794	0.42392	T	-0.328673	0.41616	T	0.982524812221527	0.74544	D	0.911209	0.68535	D	0.2115825	0.43487	0.16908644	0.38917	0.2115825	0.43487	0.16908644	0.38916	-6.849	0.52923	T	.	.	0.478	0.67407	A	.;.	.;.	3.369197	0.46553	22.3	0.99612827669699333	0.74932	0.90884	0.52443	D	AEFGBHCI	0.647810	0.62286	D	0.302194617090589	0.56262	3.790555	0.274565242788951	0.54059	3.572052	0.999999977889547	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.25	3.37	0.37692	2.142000	0.41802	1.607000	0.27615	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.8546:0.0:0.1454	10.739	0.45342	523	0.74147	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	819.49	34	chr9	127507219	.	C	A	819.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.474;DP=262;ExcessHet=0;FS=1.843;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.19;SOR=0.968	GT:AD:DP:GQ:PL	0/1:40,39:79:99:830,0,820	6	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S	.	415	1082	24	1	0	26	0.0118721	.	.	.	458911	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|DYNC2I2-related_disorder|not_provided	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.009537	0.002924	0.000000	0.000000	0.009146	0.026515	0.07143	1443.44	34	chr9	128634837	.	C	T	1443.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.559;DP=313;ExcessHet=0;FS=3.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=0.673;SOR=0.446	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1454,0,1442	6	0	1	0
chr9	129874608	129874608	C	A	exonic	USP20	.	nonsynonymous SNV	USP20:NM_001008563:exon18:c.C1773A:p.H591Q,USP20:NM_001110303:exon18:c.C1773A:p.H591Q,USP20:NM_006676:exon18:c.C1773A:p.H591Q	.	430	1090	1	1	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.221	0.0529044071909	7.9e-05	.	2.516e-05	0	0	0	0	4.559e-05	0	0	2.59e-05	4	154602	rs374930544	9.579e-06	9.577e-06	8.169e-06	1.1e-05	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	9.892e-06	0	1.159e-05	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.251	0.31212	B	0.327	0.41976	B	0.000000	0.84330	D	0.047712	0.999996	0.58761	D	2.215	0.62545	M	4.18	0.02743	T	-6.66	0.92302	D	0.821	0.81658	-1.0057	0.28247	T	0.011	0.04369	T	10	0.67643917	0.71019	D	0.052904	0.65257	D	0.221	0.51721	0.564	0.68499	0.280987212366	0.27714	0.6315407421700721	0.63088	0.561320963877	0.52637	0.738963723183	0.72820	T	0.161753	0.50614	T	-0.057772	0.43255	T	-0.257116	0.49112	T	0.810372948646545	0.47074	D	0.979902	0.93196	D	0.8036321	0.84139	0.80549216	0.88614	0.8036321	0.84140	0.80549216	0.88615	-10.59	0.77363	D	.	.	0.994	0.95110	P	.;.;.	.;.;.	0.833341	0.12048	8.603	0.97612760795837417	0.34915	0.45841	0.27627	N	AEFDBCI	0.306556	0.41367	N	-0.737353819914995	0.14979	0.7508752	-0.763768558968658	0.15385	0.8088512	0.999974849132825	0.50053	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.95	-3.07	0.05038	-1.675000	0.02049	-5.603000	0.01659	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.0:0.3742:0.0:0.6258	13.131	0.58797	369	0.84396	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1762.44	34	chr9	129874608	.	C	A	1762.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.11;DP=317;ExcessHet=0;FS=0.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=0.176;SOR=0.562	GT:AD:DP:GQ:PL	0/1:67,67:134:99:1773,0,1749	6	0	1	0
chr9	130408889	130408889	C	T	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon84:c.C12835T:p.R4279W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs995537633	3.517e-05	2.736e-05	3.797e-05	3.226e-05	0.0003	2.65e-05	2.333e-05	0.0002	0.0001	0.0003	0.0002	0	0.0002	0	0.0002	1.738e-05	0.0002	1.312e-05	7.221e-05	7.217e-05	5.139e-05	9.397e-05	0.0002	3.968e-05	3.125e-05	0.0001	8.43e-05	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0002	.	.	.	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.214	0.23884	.	.	.	.	.	.	.	0.085742354	0.14505	T	.	.	.	.	.	.	.	0.326345978581	0.32251	0.3579562137840729	0.35709	.	.	0.296239972115	0.09842	T	0.003623	0.03030	T	-0.568218	0.00227	T	-0.719832	0.04804	T	.	.	.	0.558444	0.19458	T	0.20130658	0.42136	0.16350466	0.37925	0.20130658	0.42136	0.16350466	0.37924	-7.441	0.57194	T	.	.	0.076	0.06024	B	.	.	2.231012	0.28483	17.81	0.73679324823822212	0.10416	0.19732	0.20774	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999998749251281	0.74766	0.183328	0.03972	0	0.068659	0.01829	0	0.199235	0.04519	0	0.057841	0.00900	0	0.649144	0.41742	5.3	4.32	0.50899	0.836000	0.27198	-0.106000	0.11884	-0.191000	0.09375	0.016000	0.19238	0.000000	0.08366	0.066000	0.16387	0.1848:0.8152:0.0:0.0	11.961	0.52297	374	0.84073	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	724.27	34	chr9	130408889	.	C	T	724.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.567;DP=239;ExcessHet=0;FS=0.962;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.564;SOR=0.523	GT:AD:DP:GQ:PL	0/1:31,32:63:99:734,0,707	5	0	1	1
chr9	130433379	130433379	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon98:c.G14926A:p.G4976S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	.	0.00878594	0.0029	0.0443	0	0	.	0	0	0	0.0005757	89	154602	rs113041177	0.0008	0.0008	0.0009	0.0007	0.0295	0.0008	0.0007	0.0278	0.0271	0.0295	0.0021	0	0	0	0.0017	6.26e-05	0.0024	9.619e-05	0.0078	0.0078	0.0082	0.0073	0.0269	0.0074	0.0073	0.0256	0.0251	0.0269	0	0.0029	0	0	0	0.0034	8.821e-05	0.0061	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.00717	-0.8278	0.53442	T	0.186	0.53511	T	6	0.002153635	0.00031	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.22134895655357056	0.22049	.	.	.	.	.	2.6E-4	0.00060	T	-0.662762	0.00060	T	-0.704516	0.05582	T	0.00404215957425928	0.00043	T	0.563244	0.19836	T	0.059518743	0.12107	0.09689803	0.23042	0.059518743	0.12107	0.09689803	0.23041	-2.57	0.06278	T	.	.	0.061	0.01109	B	.	.	0.191477	0.05775	2.218	0.92567638573492106	0.22021	0.10069	0.15675	N	ALL	0.052312	0.09325	N	-1.08785136262138	0.06866	0.3173051	-1.12619359170849	0.07202	0.3494766	0.999999992660392	0.74766	0.789315	0.99827	0	0.616487	0.53143	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	4.54	-2.81	0.05459	0.061000	0.14242	-0.214000	0.10826	-0.352000	0.05559	0.209000	0.24412	0.004000	0.18990	0.022000	0.11911	0.4869:0.1496:0.3635:0.0	5.468	0.15947	358	0.85037	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	470.27	24	chr9	130433379	.	G	A	470.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.018;DP=192;ExcessHet=0;FS=2.879;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.031;SOR=0.352	GT:AD:DP:GQ:PL	0/1:16,21:37:99:480,0,323	5	0	1	1
chr9	133475503	133475503	C	T	exonic	SLC2A6	.	nonsynonymous SNV	SLC2A6:NM_001145099:exon5:c.G671A:p.R224Q,SLC2A6:NM_017585:exon5:c.G671A:p.R224Q	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0365264616018	0.0037	0.000798722	0.0026	0.0010	0.0025	0	0.0009	0.0041	0.0025	6.306e-05	0.0028913	447	154602	rs147854160	0.0057	0.0057	0.0058	0.0057	0.0070	0.0056	0.0056	0.0069	0.0068	0.0009	0.0035	0.0011	0	0.0012	0.0027	0.0070	0.0050	9.284e-05	0.0034	0.0034	0.0037	0.0031	0.0070	0.0032	0.0031	0.0059	0.0055	0.0009	0.0011	0.0070	0.0006	0	0.0014	0	0.0051	0.0028	0.0002	1.0	0.00964	T	0.855	0.03457	T	0.017	0.18474	B	0.003	0.08700	B	0.041935	0.23896	N	0.448034	0.995879	0.23177	N	-0.265	0.03777	N	-0.84	0.74265	T	0.33	0.04091	N	0.11	0.09631	-1.0183	0.24269	T	0.092	0.35174	T	10	0.0064229667	0.00145	T	0.036526	0.57047	D	0.101	0.28911	.	.	0.68332888052	0.68063	0.2502778925899523	0.24941	0.250448072217	0.27614	0.354210078716	0.18540	T	0.053096	0.29347	T	-0.561168	0.00250	T	-0.573728	0.15109	T	0.00377087047983331	0.00040	T	.	.	.	0.028032992	0.02081	0.050975088	0.08110	0.028032992	0.02080	0.050975088	0.08110	-4.293	0.28079	T	.	.	0.073	0.07985	B	.;.	.;.	4.404619	0.68085	25.2	0.92312362107149293	0.21705	0.18793	0.20405	N	AEFDGBI	0.080924	0.16368	N	-0.8216105616927	0.12758	0.6239815	-0.700281658095712	0.16953	0.8992606	0.999958418846714	0.48110	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.22	0.644	0.16948	1.180000	0.31614	0.519000	0.19148	0.599000	0.40250	0.617000	0.27888	0.038000	0.21505	0.885000	0.42453	0.0:0.3239:0.0:0.6761	6.988	0.23917	775	0.48401	.;Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	681.83	28	chr9	133475503	.	C	T	681.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.56;DP=208;ExcessHet=0;FS=1.202;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.51;ReadPosRankSum=2.12;SOR=1.044	GT:AD:DP:GQ:PL	0/1:21,26:47:99:692,0,442	6	0	1	0
chr9	135714582	135714582	C	T	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_020822:exon2:c.C116T:p.P39L	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	10	1507	5	0	0	5	0.00165618	.	.	.	134797	KCNT1-related_disorder|not_provided|Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_specified|Inborn_genetic_diseases	.|MedGen:C3661900|MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0038	0.00159744	0.0098	0.0019	0.0039	0	0.0147	0.0151	0.0038	0.0019	0.0031565	488	154602	rs201051863	0.0057	0.0053	0.0057	0.0057	0.0064	0.0056	0.0055	0.0063	0.0062	0.0009	0.0013	0.0083	0	0.0043	0.0024	0.0064	0.0054	0.0013	0.0039	0.0039	0.0040	0.0037	0.0062	0.0036	0.0035	0.0057	0.0055	0.0010	0.0219	0.0020	0.0061	0	0.0031	0	0.0062	0.0058	0.0025	0.087	0.32453	T	0.012	0.63918	D	.	.	.	.	.	.	0.013155	0.01356	U	9.327170	1	0.18198	N	.	.	.	1.97	0.22067	T	-1.3	0.32590	N	0.151	0.18103	-1.0356	0.18668	T	0.018	0.07329	T	10	0.0033433735	0.00058	T	.	.	.	0.029	0.06676	.	.	0.0666544352282	0.05500	0.16352326738834783	0.16272	0.643941016411	0.57915	0.690119028091	0.65723	T	.	.	.	-0.70979	0.00032	T	-0.789172	0.02187	T	0.00612083954984012	0.00068	T	0.580842	0.21027	T	.	.	.	.	.	.	.	.	-4.059	0.24683	T	.	.	0.103	0.18247	B	.;.	.;.	1.572115	0.20126	14.60	0.96184331579768212	0.28969	0.00172	0.01016	N	AEFDBHCI	0.022165	0.01074	N	-1.19390510425387	0.05092	0.231309	-1.23118443552341	0.05416	0.25799	0.988664159746435	0.31589	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	2.92	-0.473	0.11508	-0.169000	0.09900	0.091000	0.14516	0.493000	0.22426	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.2188:0.3689:0.0:0.4123	2.578	0.04519	675	0.60470	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001529	0.005435	0.001366	0.000000	0.000000	0.000000	0.000000	0.007576	0.08333	599.27	24	chr9	135714582	.	C	T	599.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.505;DP=180;ExcessHet=0;FS=1.298;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.03;SOR=0.385	GT:AD:DP:GQ:PL	0/1:14,28:42:99:609,0,284	5	0	1	1
chr9	135955409	135955409	G	A	exonic	UBAC1	.	nonsynonymous SNV	UBAC1:NM_016172:exon2:c.C145T:p.H49Y	.	432	1071	19	0	0	19	0.00879223	.	.	.	711861	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.096	.	0.0056	0.00798722	0.0092	0.0011	0.0045	0	0.0163	0.0107	0.0128	0.0149	0.0082535	1276	154602	rs142001879	0.0081	0.0080	0.0078	0.0083	0.0119	0.0079	0.0079	0.0112	0.0110	0.0010	0.0047	0.0007	0	0.0162	0.0065	0.0081	0.0080	0.0119	0.0066	0.0066	0.0060	0.0072	0.0120	0.0062	0.0061	0.0095	0.0087	0.0013	0	0.0048	0.0006	0	0.0143	0.0102	0.0095	0.0038	0.0120	0.817	0.02981	T	0.129	0.34837	T	0.608	0.39540	P	0.09	0.29851	B	0.000001	0.84330	D	0.096458	0.997213	0.43714	D	1.32	0.33002	L	1.92	0.23082	T	-0.37	0.13226	N	0.323	0.36359	-1.0860	0.06227	T	0.024	0.10013	T	10	0.005925685	0.00133	T	.	.	.	0.096	0.27654	.	.	0.082315109003	0.07666	0.31150531645933593	0.31063	0.37171088779	0.38671	0.630370259285	0.57197	T	0.028764	0.20762	T	-0.44439	0.01219	T	-0.400081	0.33374	T	0.0397201283000625	0.03640	T	0.90061	0.65471	D	0.06290287	0.13187	0.062878385	0.12372	0.06290287	0.13186	0.062878385	0.12371	-5.037	0.37239	T	.	.	0.084	0.09723	B	.	.	2.494431	0.32184	18.97	0.94042082308111552	0.24164	0.90612	0.51933	D	AEFBCI	0.552495	0.56413	D	0.108473930027154	0.46859	2.91982	0.23342110045025	0.51710	3.351346	0.999998556547796	0.74766	0.736574	0.97449	0	0.743671	0.97443	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	5.28	3.33	0.37245	5.757000	0.68422	5.805000	0.49965	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.863000	0.40966	0.0789:0.0:0.7798:0.1413	9.838	0.40153	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.009567	0.000000	0.005435	0.005848	0.000000	0.008621	0.009146	0.022727	0.08333	190.27	26	chr9	135955409	.	G	A	190.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.001;DP=161;ExcessHet=0;FS=1.617;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=7.32;ReadPosRankSum=1.56;SOR=0.34	GT:AD:DP:GQ:PL	0/1:16,10:26:99:200,0,413	5	0	1	1
chr9	136253682	136253682	A	G	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001378188:exon26:c.T6146C:p.I2049T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13332164	0.25374	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385761	0.09460	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.515	0.65270	A	.	.	1.326513	0.17311	13.09	0.79679062525083366	0.12851	0.08849	0.14716	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999775454667053	0.42865	0.056701	0.00814	0	0.060609	0.00678	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0794579	0.18365	4.57	2.0	0.25495	0.019000	0.13337	1.259000	0.25219	0.754000	0.88378	0.000000	0.06391	0.000000	0.08366	0.192000	0.21661	0.6443:0.1816:0.0:0.1742	5.474	0.15980	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	39.75	1	chr9	136253682	.	A	G	39.75	.	AC=2;AF=0.333;AN=6;DP=5;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=19.88;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	4
chr9	136378999	136378999	G	A	exonic	SNAPC4	.	nonsynonymous SNV	SNAPC4:NM_003086:exon21:c.C2828T:p.P943L	.	379	1142	1	0	0	1	0.000437637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00341928887386	0.0002	0.000399361	0.0007	0.0003	0	0.0006	0	4.195e-05	0	0.0039	0.0003946	61	154602	rs377614654	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	2.99e-05	0.0001	0	7.601e-05	0	0.0002	8.111e-06	9.987e-05	0.0032	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	9.693e-05	0.0018	0.0014	7.213e-05	0	0.0001	0	0.0004	0	0.0034	2.94e-05	0.0005	0.0029	0.268	0.16144	T	0.177	0.29740	T	0.0	0.02946	B	0.0	0.01387	B	0.001216	0.00754	N	5.533370	1	0.08975	N	0.205	0.09354	N	1.83	0.24841	T	-0.87	0.23590	N	0.044	0.01658	-1.0092	0.27167	T	0.040	0.17020	T	10	0.004597515	0.00096	T	0.003419	0.07694	T	0.029	0.06676	.	.	0.0846915920261	0.08053	0.1790998910353127	0.17828	.	.	0.398734509945	0.24893	T	0.004269	0.03680	T	-0.625416	0.00102	T	-0.674194	0.07343	T	0.00904816653222226	0.00113	T	0.442956	0.12306	T	0.025136795	0.01417	0.029085439	0.01208	0.025136795	0.01417	0.029085439	0.01208	-3.852	0.21584	T	.	.	0.064	0.01577	B	.	.	0.475563	0.08450	5.209	0.53045929565370653	0.04864	0.10539	0.16018	N	AEFBI	0.045532	0.07457	N	-1.74240594355224	0.00702	0.03030722	-1.75628283070608	0.00910	0.04069743	0.988846585312981	0.31646	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.39	-0.671	0.10809	0.286000	0.18660	0.638000	0.20293	-0.753000	0.03565	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1964:0.0:0.8036:0.0	10.654	0.44856	911	0.21964	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001012	0.005051	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	292.63	16	chr9	136378999	.	G	A	292.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.71;DP=158;ExcessHet=0;FS=9.167;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.45;ReadPosRankSum=-0.094;SOR=1.02	GT:AD:DP:GQ:PL	0/1:17,11:28:99:303,0,426	6	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	917.89	56	chr10	825249	.	T	C	917.89	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-2.679;DP=539;ExcessHet=6.1542;FS=221.567;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2;ReadPosRankSum=1.29;SOR=10.035	GT:AD:DP:GQ:PL	0/1:81,29:110:58:58,0,1392	1	0	5	1
chr10	5960555	5960555	G	A	exonic	IL15RA	.	nonsynonymous SNV	IL15RA:NM_001351097:exon3:c.C188T:p.S63L,IL15RA:NM_172200:exon3:c.C296T:p.S99L,IL15RA:NM_001243539:exon4:c.C287T:p.S96L,IL15RA:NM_001351095:exon4:c.C470T:p.S157L,IL15RA:NM_002189:exon4:c.C395T:p.S132L,IL15RA:NM_001256765:exon5:c.C653T:p.S218L,IL15RA:NM_001351096:exon5:c.C287T:p.S96L	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	0.0002	0.00459265	0.0026	0	0.0002	0.0309	0	0.0004	0.0023	0.0009	0.0022639	350	154602	rs77226427	0.0009	0.0009	0.0009	0.0009	0.0268	0.0009	0.0009	0.0255	0.0250	0	0	0.0028	0.0268	0	0.0005	7.284e-05	0.0011	0.0010	0.0012	0.0012	0.0011	0.0013	0.0306	0.0011	0.0010	0.0268	0.0253	0	0	0.0003	0.0014	0.0306	0	0	0.0002	0.0005	0.0004	0.815	0.55530	T	0.288	0.25362	T	0.005	0.12996	B	0.003	0.08700	B	0.660701	0.10430	N	0.815742	1	0.08975	N	-0.515	0.02571	N	1.76	0.48769	T	-0.89	0.65972	N	0.065	0.12770	-1.0106	0.26729	T	0.021	0.08686	T	10	0.0026592016	0.00041	T	.	.	.	0.033	0.08068	.	.	0.278143212241	0.27437	0.12546007304762605	0.12472	0.467503880503	0.46128	0.254234433174	0.04227	T	0.005505	0.33059	T	-0.56459	0.00238	T	-0.558009	0.16564	T	0.0209162822733366	0.00792	T	0.832017	0.52823	T	0.022825917	0.00974	0.031916793	0.01850	0.022825917	0.00974	0.031916793	0.01850	-4.796	0.35385	T	.	.	0.120	0.40473	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.887839	0.23980	16.22	0.92400438617802871	0.21813	0.00942	0.03638	N	ALL	0.045024	0.07315	N	-1.2180063251457	0.04738	0.2145193	-1.20535381796684	0.05823	0.2785604	0.99994227339459	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.19	-0.789	0.10383	0.584000	0.23565	1.553000	0.27306	-0.106000	0.15538	0.018000	0.19461	0.000000	0.08366	0.022000	0.11911	0.3479:0.0:0.6521:0.0	8.318	0.31272	715	0.56137	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.000000	0.002941	0.000000	0.008621	0.003067	0.000000	0.07143	1173.83	48	chr10	5960555	.	G	A	1173.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.406;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.186;SOR=0.666	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1184,0,1071	6	0	1	0
chr10	15132925	15132925	C	T	exonic	NMT2	.	nonsynonymous SNV	NMT2:NM_004808:exon6:c.G611A:p.R204H,NMT2:NM_001308295:exon7:c.G572A:p.R191H	.	420	1079	22	1	0	24	0.0109991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0232999992965	0.0006	0.000399361	0.0011	0	0.0005	0	0	0.0014	0.0022	0.0022	0.0010155	157	154602	rs149229412	0.0009	0.0009	0.0008	0.0009	0.0059	0.0008	0.0008	0.0043	0.0038	0.0002	0.0007	0.0064	0	0.0001	0.0059	0.0007	0.0014	0.0020	0.0010	0.0010	0.0009	0.0012	0.0017	0.0009	0.0008	0.0010	0.0009	0.0002	0.0077	0.0012	0.0072	0	9.432e-05	0.0102	0.0012	0.0014	0.0017	0.052	0.39097	T	0.124	0.35455	T	0.997	0.70673	D	0.877	0.65739	P	0.000000	0.84330	D	0.048080	1	0.81001	D	1.73	0.44655	L	0.92	0.44461	T	-2.14	0.49684	N	0.28	0.31702	-0.7865	0.55933	T	0.214	0.57481	T	10	0.015343785	0.00322	T	0.023	0.46253	T	0.219	0.51417	.	.	0.646692631277	0.64376	0.6671797662300799	0.66655	1.47514625927	0.86607	0.723498463631	0.70557	T	0.066693	0.33011	T	-0.390677	0.02663	T	-0.340741	0.40259	T	0.052325215190649	0.05903	T	0.986551	0.95418	D	0.32818633	0.55322	0.26385662	0.52197	0.32818633	0.55322	0.26385662	0.52196	-7.866	0.60153	D	.	.	0.137	0.29806	B	.;.	.;.	5.367495	0.89995	31	0.99939035407802168	0.99734	0.98720	0.85993	D	AEFBI	0.717852	0.66923	D	0.706618233948671	0.80067	7.212702	0.73089363104848	0.84726	8.372591	0.999999999972394	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.679469	0.61720	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	6.169000	0.71792	5.974000	0.52050	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.835	0.96647	845	0.36510	Myristoyl-CoA:protein N-myristoyltransferase, N-terminal;Myristoyl-CoA:protein N-myristoyltransferase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.017241	0.000000	0.007576	0.1429	2926.44	37	chr10	15132925	.	C	T	2926.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.189;DP=372;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.78;ReadPosRankSum=-0.052;SOR=0.726	GT:AD:DP:GQ:PL	0/1:87,93:180:99:2155,0,2020	5	0	2	0
chr10	15786605	15786605	T	C	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon12:c.A553G:p.I185V,MINDY3:NM_024948:exon13:c.A1072G:p.I358V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00764646248318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.884e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.33585	T	0.144	0.43721	T	0.854	0.47077	P	0.561	0.49582	P	0.000000	0.84330	D	0.046090	0.999998	0.58761	D	.	.	.	1.35	0.34648	T	-0.79	0.21860	N	0.351	0.39254	-0.9547	0.40149	T	0.134	0.44856	T	10	0.33790162	0.50904	T	0.007646	0.20299	T	0.104	0.29647	0.417	0.45709	0.117191471859	0.11215	0.29488749243866924	0.29401	0.110849007013	0.12512	0.790306091309	0.80490	T	0.073	0.34616	T	-0.123486	0.32554	T	-0.415155	0.31631	T	0.655807673931122	0.38713	D	0.927007	0.73102	D	0.16934788	0.37445	0.1360903	0.32565	0.16934788	0.37445	0.1360903	0.32564	-10.573	0.77266	D	.	.	0.133	0.49048	B	.;.	.;.	3.708980	0.52937	23.3	0.99883937248878718	0.95970	0.95907	0.66669	D	AEFBI	0.489796	0.52755	N	0.494721475490579	0.66780	4.994687	0.539890980461801	0.70698	5.543418	0.999999789403579	0.74766	0.732398	0.92422	0	0.666794	0.63253	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.52	5.52	0.82153	4.977000	0.63509	6.200000	0.54880	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.925	0.79395	905	0.23532	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	191.04	56	chr10	15786605	.	T	C	191.04	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.364;DP=461;ExcessHet=4.7409;FS=333.852;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.49;ReadPosRankSum=-0.169;SOR=9.21	GT:AD:DP:GQ:PL	0/1:64,20:84:62:62,0,1113	2	0	5	0
chr10	24473904	24473904	G	A	exonic	KIAA1217	.	nonsynonymous SNV	KIAA1217:NM_001282769:exon2:c.G677A:p.R226H,KIAA1217:NM_001282770:exon2:c.G677A:p.R226H,KIAA1217:NM_001321681:exon2:c.G677A:p.R226H,KIAA1217:NM_001282767:exon6:c.G1523A:p.R508H,KIAA1217:NM_001282768:exon6:c.G1523A:p.R508H,KIAA1217:NM_019590:exon6:c.G1523A:p.R508H,KIAA1217:NM_001098500:exon7:c.G1283A:p.R428H	.	435	1062	23	2	0	27	0.0125523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.531	.	0.0042	0.00279553	0.0057	0.0011	0.0034	0.0003	0.0032	0.0069	0.0044	0.0098	0.0056532	874	154602	rs41279868	0.0067	0.0067	0.0066	0.0067	0.0102	0.0066	0.0065	0.0097	0.0095	0.0011	0.0023	0.0024	5.038e-05	0.0042	0.0080	0.0072	0.0061	0.0102	0.0039	0.0039	0.0042	0.0037	0.0108	0.0037	0.0036	0.0085	0.0076	0.0007	0.0088	0.0024	0.0023	0.0002	0.0030	0.0068	0.0061	0.0061	0.0108	0.0	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.047397	0.999999	0.81001	D	2.485	0.72352	M	0.67	0.52187	T	-4.21	0.78046	D	0.783	0.81261	-0.4162	0.71513	T	0.263	0.63361	T	10	0.007798493	0.00177	T	.	.	.	0.531	0.80247	.	.	0.731578513301	0.72918	0.4624375204723641	0.46161	0.633570060492	0.57251	0.573865771294	0.49224	T	0.261078	0.89468	T	-0.0933595	0.37521	T	0.100938	0.76970	D	0.0433894866553355	0.04310	T	0.973903	0.93484	D	0.6997425	0.78042	0.53233963	0.72977	0.6997425	0.78044	0.53233963	0.72978	-8.704	0.76230	D	.	.	0.378	0.65221	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.210104	0.87424	29.2	0.99955902370276051	0.99975	0.99064	0.90698	D	AEFBCI	0.930736	0.91849	D	0.866259133105656	0.90014	10.21514	0.827265161731744	0.91621	10.98079	0.999999999319612	0.74766	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.37	5.37	0.76949	9.211000	0.94222	9.905000	0.82381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.923000	0.45890	0.0:0.0:1.0:0.0	19.094	0.93225	943	0.12886	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.000000	0.008621	0.003049	0.018939	0.1429	1896.34	36	chr10	24473904	.	G	A	1896.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.104;DP=330;ExcessHet=0.3476;FS=0.557;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=1.6;SOR=0.645	GT:AD:DP:GQ:PL	0/1:44,39:83:99:962,0,1160	5	0	2	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V,ACBD5:NM_001301252:exon10:c.A1180G:p.I394V,ACBD5:NM_001352587:exon10:c.A1297G:p.I433V,ACBD5:NM_001271512:exon11:c.A1501G:p.I501V,ACBD5:NM_001301251:exon11:c.A1180G:p.I394V,ACBD5:NM_001301253:exon11:c.A1180G:p.I394V,ACBD5:NM_001352582:exon11:c.A1198G:p.I400V,ACBD5:NM_001352583:exon11:c.A1180G:p.I394V,ACBD5:NM_001352584:exon11:c.A1180G:p.I394V,ACBD5:NM_001352586:exon11:c.A1330G:p.I444V,ACBD5:NM_001352588:exon11:c.A1303G:p.I435V,ACBD5:NM_001042473:exon12:c.A1402G:p.I468V,ACBD5:NM_001352570:exon12:c.A1507G:p.I503V,ACBD5:NM_001352571:exon12:c.A1534G:p.I512V,ACBD5:NM_001352572:exon12:c.A1528G:p.I510V,ACBD5:NM_001352577:exon12:c.A1402G:p.I468V,ACBD5:NM_001352578:exon12:c.A1402G:p.I468V,ACBD5:NM_001352579:exon12:c.A1402G:p.I468V,ACBD5:NM_001352580:exon12:c.A1348G:p.I450V,ACBD5:NM_001352581:exon12:c.A1336G:p.I446V,ACBD5:NM_001352585:exon12:c.A1213G:p.I405V,ACBD5:NM_145698:exon12:c.A1507G:p.I503V,ACBD5:NM_001352568:exon13:c.A1561G:p.I521V,ACBD5:NM_001352569:exon13:c.A1540G:p.I514V,ACBD5:NM_001352573:exon13:c.A1486G:p.I496V,ACBD5:NM_001352574:exon13:c.A1435G:p.I479V,ACBD5:NM_001352575:exon13:c.A1435G:p.I479V,ACBD5:NM_001352576:exon13:c.A1435G:p.I479V	.	.	.	.	.	.	.	.	.	.	.	1077011	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	39.96	41	chr10	27204498	.	T	C	39.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.136;DP=330;ExcessHet=0.4139;FS=73.109;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.24;ReadPosRankSum=0.337;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,8:71:5:0|1:27204498_T_C:5,0,2125:27204498	4	0	2	1
chr10	43206023	43206023	C	T	exonic	RASGEF1A	.	nonsynonymous SNV	RASGEF1A:NM_001282862:exon2:c.G118A:p.G40S,RASGEF1A:NM_145313:exon2:c.G94A:p.G32S	.	421	1075	1	0	25	26	0.0004649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0012	0.0355431	0.0223	0.0034	0.0008	0.1112	0.0296	0.0023	0.0198	0.0691	0.0154461	2388	154602	rs117610424	0.0082	0.0082	0.0068	0.0096	0.1059	0.0081	0.0080	0.1032	0.1021	0.0013	0.0005	0.0029	0.1059	0.0217	0.0057	0.0005	0.0106	0.0612	0.0086	0.0087	0.0062	0.0112	0.0964	0.0082	0.0081	0.0895	0.0867	0.0020	0	0.0012	0.0032	0.0964	0.0240	0.0034	0.0014	0.0061	0.0702	0.714	0.04032	T	0.728	0.05221	T	0.0	0.02946	B	0.0	0.01387	B	0.141388	0.02889	N	1.688360	1	0.08975	N	0	0.06538	N	-0.29	0.67712	T	0.34	0.03955	N	0.077	0.05162	-1.1060	0.03437	T	0.002	0.00526	T	10	0.0016499162	0.00020	T	.	.	.	0.038	0.09825	.	.	.	.	0.1659222229049595	0.16512	0.724846526864	0.62416	0.330052435398	0.14942	T	0.00418	0.03591	T	-0.626039	0.00101	T	-0.59456	0.13274	T	0.000216800669837077	0.00001	T	0.377862	0.09347	T	0.026439305	0.01702	0.038807113	0.03831	0.026439305	0.01702	0.038807113	0.03830	-4.742	0.34916	T	.	.	0.084	0.09675	B	.;.;.	.;.;.	-0.177307	0.03209	0.533	0.54145436056785945	0.05079	0.07866	0.13857	N	AEFBI	0.068383	0.13486	N	-1.7530624372783	0.00670	0.0289256	-1.79795619577989	0.00766	0.03414931	0.999932391636118	0.46732	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.68	-6.04	0.01995	-0.579000	0.05927	-5.905000	0.01557	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.1782:0.1384:0.6834	7.288	0.25522	851	0.35303	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008081	0.005051	0.000000	0.008824	0.000000	0.017241	0.000000	0.026515	0.1667	2707.92	35	chr10	43206023	.	C	T	2707.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.252;DP=271;ExcessHet=0.4139;FS=0.662;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=21.16;ReadPosRankSum=-0.145;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,52:79:99:0|1:43206023_C_T:2058,0,977:43206023	4	0	2	1
chr10	43481879	43481879	C	T	exonic	ZNF487	.	nonsynonymous SNV	ZNF487:NM_001355447:exon3:c.C593T:p.A198V,ZNF487:NM_001355449:exon3:c.C488T:p.A163V,ZNF487:NM_001355450:exon3:c.C488T:p.A163V,ZNF487:NM_001355444:exon4:c.C581T:p.A194V,ZNF487:NM_001355445:exon4:c.C581T:p.A194V,ZNF487:NM_001355448:exon4:c.C689T:p.A230V,ZNF487:NM_001355446:exon5:c.C581T:p.A194V	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	.	0.00579073	0.0046	0.0298	0	0	0	0.0155	0	0.0004	0.0007503	116	154602	rs58052353	0.0021	0.0018	0.0023	0.0019	0.0186	0.0020	0.0019	0.0168	0.0161	0.0186	0.0026	0.0155	0	0	0.0150	0.0007	0.0043	0.0007	0.0061	0.0061	0.0067	0.0056	0.0178	0.0058	0.0057	0.0167	0.0163	0.0178	0.0011	0.0031	0.0184	0	0	0.0034	0.0010	0.0061	0.0002	1.0	0.00964	T	0.412	0.14456	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.6	0.28604	T	0.02	0.06739	N	0.039	0.01274	-1.0152	0.25272	T	0.016	0.06521	T	8	0.004594177	0.00096	T	.	.	.	0.010	0.01040	.	.	0.0138822411134	0.00435	.	.	0.433654064726	0.43517	0.249059259892	0.03669	T	.	.	.	-0.754559	0.00016	T	-0.839729	0.01102	T	0.00503663952893146	0.00054	T	0.305869	0.05863	T	.	.	.	.	.	.	.	.	-4.328	0.28568	T	.	.	.	.	.	.	.	-0.543977	0.01731	0.129	0.62815139690335819	0.07060	0.00032	0.00291	N	AEFBCI	0.030014	0.02939	N	-1.13329996473263	0.06059	0.2779165	-1.2997340404127	0.04435	0.2091714	5.61357773065305E-4	0.07335	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	1.71	-0.457	0.11578	-2.121000	0.01409	-15.256000	0.00365	-0.406000	0.05278	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2536:0.3564:0.0:0.3899	2.052	0.03355	842	0.36989	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	713.49	34	chr10	43481879	.	C	T	713.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.684;DP=254;ExcessHet=0;FS=3.019;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.81;ReadPosRankSum=-1.221;SOR=1.058	GT:AD:DP:GQ:PL	0/1:47,34:81:99:724,0,1122	6	0	1	0
chr10	70771398	70771398	G	A	exonic	TBATA	.	nonsynonymous SNV	TBATA:NM_001318241:exon11:c.C1037T:p.S346L,TBATA:NM_001318242:exon11:c.C1034T:p.S345L,TBATA:NM_001318243:exon11:c.C1031T:p.S344L,TBATA:NM_152710:exon11:c.C1034T:p.S345L	.	424	1095	3	0	0	3	0.00136799	.	.	.	81994	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.0210382929624	0.0002	0.000399361	0.0004	0	0.0002	0	0	8.991e-05	0	0.0025	0.0003428	53	154602	rs149097055	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	2.987e-05	0	7.653e-05	2.519e-05	7.489e-05	0.0003	4.496e-05	0.0001	0.0025	0.0002	0.0002	3.855e-05	0.0003	0.0041	0.0001	8.712e-05	0.0027	0.0023	0	0	0	0	0	0	0	4.411e-05	0	0.0041	0.004	0.65419	D	0.012	0.63918	D	0.938	0.52538	P	0.241	0.38645	B	0.990337	0.07898	N	1.007740	1	0.08975	N	.	.	.	0.73	0.50721	T	-1.56	0.37759	N	0.143	0.16168	-1.0599	0.11781	T	0.073	0.29515	T	10	0.008525312	0.00193	T	0.021038	0.43745	T	0.127	0.34888	.	.	0.104622674875	0.10061	0.09759595470905068	0.09690	0.0805848671954	0.09068	0.306189328432	0.11332	T	0.140382	0.47489	T	-0.579904	0.00193	T	-0.611316	0.11878	T	0.0472475316030224	0.05008	T	0.533147	0.17760	T	0.04456663	0.07146	0.060520973	0.11539	0.041810248	0.06224	0.060664102	0.11591	-3.658	0.18700	T	.	.	0.093	0.14155	B	.;.	.;.	1.014242	0.13936	10.50	0.93856457859841247	0.23859	0.06794	0.12817	N	AEFDBI	0.074296	0.14886	N	-0.640206069844397	0.17745	0.9157683	-0.721930625031023	0.16415	0.8682674	0.452098071325362	0.20549	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.41	3.51	0.39297	1.335000	0.33444	2.718000	0.34289	-0.690000	0.04136	0.003000	0.16062	0.311000	0.24273	0.000000	0.00833	0.1056:0.0:0.8944:0.0	8.895	0.34615	433	0.80627	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1191.49	33	chr10	70771398	.	G	A	1191.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.581;DP=281;ExcessHet=0;FS=0.718;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-2.295;SOR=0.588	GT:AD:DP:GQ:PL	0/1:54,55:109:99:1202,0,1278	6	0	1	0
chr10	71296686	71296686	G	A	exonic	UNC5B	.	nonsynonymous SNV	UNC5B:NM_001244889:exon14:c.G2401A:p.V801M,UNC5B:NM_170744:exon15:c.G2434A:p.V812M	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	0.0656074515641	7.7e-05	.	1.651e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs370153366	3.147e-05	3.147e-05	2.178e-05	4.125e-05	0.0001	2.412e-05	2.158e-05	3.982e-05	2.373e-05	0.0001	2.236e-05	0	0	0	0	3.237e-05	4.967e-05	2.319e-05	3.942e-05	3.94e-05	5.138e-05	2.689e-05	7.348e-05	1.715e-05	1.129e-05	2.846e-05	1.858e-05	2.412e-05	0	0	0	0	0	0	7.348e-05	0	0	0.032	0.45756	D	0.065	0.44702	T	1.0	0.90584	D	0.999	0.92359	D	0.000268	0.46590	D	0.142522	1	0.81001	D	2.7	0.79018	M	0.37	0.58468	T	-2.47	0.53898	N	0.88	0.90476	-0.2180	0.77204	T	0.396	0.74844	T	10	0.8108239	0.80368	D	0.065607	0.69628	D	0.414	0.72479	.	.	0.734323642297	0.73195	0.6870043408779415	0.68640	0.640975438989	0.57713	0.757858276367	0.75611	T	0.315777	0.68735	T	0.0652836	0.60270	T	0.0375268	0.72767	D	0.399973727340797	0.28941	T	0.938606	0.76932	D	0.21890455	0.44410	0.18387304	0.41405	0.21890455	0.44410	0.18387304	0.41404	-8.995	0.67666	D	.	.	0.860	0.80327	P	.;.	.;.	5.221189	0.87624	29.3	0.99892867485363579	0.96666	0.99528	0.97099	D	AEFBI	0.908432	0.86373	D	0.840422459185642	0.88555	9.62291	0.808417830832258	0.90370	10.37746	0.999999999999982	0.74766	0.732398	0.92422	0	0.563428	0.19063	0	0.743671	0.96076	0	0.586402	0.36253	0	.	.	5.14	5.14	0.70008	10.003000	0.99689	8.611000	0.77769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	18.589	0.91160	900	0.24599	UPA domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1645.25	34	chr10	71296686	.	G	A	1645.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.29;DP=301;ExcessHet=0.3476;FS=2.027;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.812;SOR=0.865	GT:AD:DP:GQ:PL	0/1:44,29:73:99:600,0,1044	5	0	2	0
chr10	71806223	71806223	C	T	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon10:c.C1400T:p.P467L,CDH23:NM_001171934:exon10:c.C1400T:p.P467L,CDH23:NM_022124:exon55:c.C8120T:p.P2707L	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	752240	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.335	.	.	0.00279553	0.0030	0	0.0008	0	0	0.0003	0	0.0104	0.0009573	148	154602	rs373230009	0.0006	0.0007	0.0004	0.0009	0.0093	0.0006	0.0006	0.0087	0.0085	0	0.0003	0	0	0	0.0042	6.486e-05	0.0009	0.0093	0.0004	0.0004	0.0003	0.0004	0.0083	0.0003	0.0003	0.0063	0.0055	2.406e-05	0	0.0003	0	0.0006	0	0.0034	5.881e-05	0.0005	0.0083	0.03	0.45393	D	0.003	0.76473	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.725	0.01781	N	0.24	0.59583	T	-2.23	0.50012	N	0.972	0.98268	-0.7626	0.57264	T	0.206	0.56485	T	10	0.010227531	0.00228	T	.	.	.	0.335	0.65718	0.44	0.49484	0.865627351664	0.86432	0.6866559061639508	0.68605	0.296736206452	0.32059	0.759593367577	0.75868	T	0.02799	0.58006	T	-0.0948292	0.37278	T	0.0975471	0.76745	D	0.0676290445450662	0.08315	T	0.958604	0.84374	D	0.4887914	0.66431	0.3310389	0.58967	0.45600507	0.64422	0.29566696	0.55598	-5.729	0.47793	T	.	.	0.148	0.38390	B	.;.;.;.	.;.;.;.	5.020994	0.83447	28.0	0.99899295886099915	0.97124	0.92335	0.55474	D	AEFDGBHCI	0.948946	0.96110	D	0.420765350813866	0.62566	4.47446	0.484984844637473	0.66993	5.025127	1.0	0.98316	0.56387	0.32371	0	0.491513	0.07743	0	0.503968	0.08637	0	0.562822	0.20929	0	.	.	5.13	5.13	0.69729	7.869000	0.85513	4.840000	0.45276	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	18.577	0.91115	791	0.46100	Cadherin-like;Cadherin-like;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.003788	0.2143	4817.79	33	chr10	71806223	.	C	T	4817.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.78;DP=300;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=29.02;ReadPosRankSum=1.05;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,37:89:99:0|1:71806223_C_T:1397,0,2072:71806223	5	1	1	0
chr10	71810506	71810506	C	G	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon15:c.C2294G:p.A765G,CDH23:NM_001171934:exon15:c.C2294G:p.A765G,CDH23:NM_022124:exon60:c.C9014G:p.A3005G	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1502	19	0	1	20	0.00628515	.	.	.	229902	Usher_syndrome_type_1|not_provided|not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.132	.	.	0.00279553	0.0014	0	0.0005	0.0001	0	7.506e-05	0	0.0098	0.0012484	193	154602	rs188966938	0.0007	0.0007	0.0004	0.0009	0.0095	0.0006	0.0006	0.0090	0.0087	0	0.0002	0	0	0	0.0042	6.386e-05	0.0009	0.0095	0.0003	0.0003	0.0003	0.0004	0.0083	0.0003	0.0002	0.0063	0.0055	0	0	0.0003	0	0.0002	0	0.0034	5.882e-05	0.0005	0.0083	0.09	0.31987	T	0.0	0.92824	D	0.002	0.09854	B	0.002	0.06944	B	0.001150	0.40056	N	0.207044	0.999995	0.58761	D	1.61	0.41143	L	0.37	0.57729	T	-1.71	0.40660	N	0.593	0.62696	-0.9556	0.39988	T	0.158	0.49094	T	10	0.008377165	0.00190	T	.	.	.	0.132	0.35948	.	.	0.745349639804	0.74305	0.34334484325574466	0.34248	0.2100548403	0.23481	0.697732031345	0.66816	T	0.007964	0.42196	T	-0.391431	0.02633	T	-0.327648	0.41731	T	0.028044143335165	0.01694	T	0.880112	0.59716	D	0.12058347	0.28372	0.2079746	0.45079	0.13911167	0.32146	0.22425441	0.47330	-6.718	0.53092	T	.	.	0.237	0.47128	B	.;.;.;.	.;.;.;.	3.218561	0.43840	21.8	0.99538915635684622	0.70398	0.86109	0.45329	D	AEFDBCI	0.538368	0.55579	D	-0.0761480775168596	0.38442	2.251477	0.0955146348702413	0.44321	2.716241	0.999999999795303	0.74766	0.554377	0.28877	0	0.514364	0.08380	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.67	5.67	0.87673	3.284000	0.51413	7.651000	0.63703	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.799000	0.37691	0.0:1.0:0.0:0.0	19.761	0.96312	785	0.46916	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2143	4327.74	33	chr10	71810506	.	C	G	4327.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.249;DP=395;ExcessHet=0;FS=0.513;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.18;ReadPosRankSum=-0.327;SOR=0.768	GT:AD:DP:GQ:PL	0/1:74,52:126:99:1125,0,1674	5	1	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T,CDH23:NM_001171934:exon17:c.G2518A:p.A840T,CDH23:NM_022124:exon62:c.G9238A:p.A3080T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	229903	Usher_syndrome_type_1|not_provided|not_specified|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.2143	5824.79	33	chr10	71811550	.	G	A	5824.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.637;DP=434;ExcessHet=0;FS=2.372;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.878;SOR=0.719	GT:AD:DP:GQ:PL	0/1:69,84:153:99:2131,0,1641	5	1	1	0
chr10	87232948	87232948	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.C1697T:p.T566I	.	477	972	70	3	0	76	0.0376238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.0259585	0.0194	0.0025	0	0.0685	0.0259	0.0249	0	0	0.0049946	130	26028	rs202126908	0.0012	0.0039	0.0010	0.0013	0.0044	0.0011	0.0011	0.0039	0.0037	0.0008	0.0009	0.0057	0.0044	0.0016	0.0019	0.0008	0.0017	0.0025	0.0033	0.0080	0.0032	0.0034	0.0112	0.0030	0.0029	0.0087	0.0078	0.0032	0.0037	0.0028	0.0142	0.0112	0.0028	0.0043	0.0024	0.0016	0.0032	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.4	0.14284	T	4.16	0.00060	N	0.057	0.03175	-0.9445	0.41895	T	0.006	0.02018	T	10	0.0018707514	0.00025	T	.	.	.	0.058	0.16647	.	.	0.043077524339	0.03247	0.011859587337732114	0.01145	.	.	0.664815962315	0.62098	T	0.003499	0.02909	T	-0.256714	0.13287	T	-0.606528	0.12270	T	0.00567222257557896	0.00062	T	0.0425957	0.00300	T	0.019963365	0.00539	0.03269047	0.02043	0.019963365	0.00539	0.03269047	0.02043	3.966	0.00009	T	.	.	0.051	0.00187	B	.;.	.;.	-0.721230	0.01272	0.067	0.74543639528431049	0.10734	0.00003	0.00079	N	AEFI	0.011378	0.00100	N	-1.99035120200077	0.00222	0.009508936	-1.91549691999944	0.00456	0.02018859	1.31856290869846E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.255000	0.18102	-0.265000	0.10395	-0.628000	0.04523	0.029000	0.20367	0.000000	0.08366	0.396000	0.26692	0.0:0.2359:0.0:0.7641	3.588	0.07525	922	0.19044	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008900	0.011364	0.014085	0.000000	0.000000	0.000000	0.010638	0.000000	0.08333	187.27	20	chr10	87232948	.	C	T	187.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.79;DP=217;ExcessHet=0;FS=26.098;MLEAC=1;MLEAF=0.083;MQ=34.22;MQRankSum=-5.24;QD=3.17;ReadPosRankSum=0.467;SOR=4.784	GT:AD:DP:GQ:PL	0/1:46,13:59:99:197,0,1199	5	0	1	1
chr10	87365166	87365166	C	T	exonic	NUTM2D	.	nonsynonymous SNV	NUTM2D:NM_001009610:exon5:c.C1481T:p.T494I,NUTM2D:NM_001382304:exon5:c.C1481T:p.T494I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00223446415924	.	.	0.0002	0.0005	0	0	0	9.204e-05	0	0.0007	3.84e-05	1	26028	rs202099769	0.0009	0.0011	0.0008	0.0011	0.0049	0.0009	0.0009	0.0043	0.0041	0.0009	0.0017	0	0.0049	0.0005	0.0008	0.0006	0.0014	0.0034	0.0020	0.0027	0.0019	0.0021	0.0046	0.0018	0.0017	0.0027	0.0022	0.0017	0	0.0030	0.0003	0.0046	0.0005	0	0.0020	0.0049	0.0033	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.41	0.14160	T	3.87	0.00062	N	0.08	0.05542	-0.9422	0.42266	T	0.012	0.04463	T	8	0.0038974881	0.00074	T	0.002234	0.04233	T	0.149	0.39377	.	.	0.0297737177859	0.01360	0.011141069843574544	0.01074	1.9025247855	0.92838	0.515417873859	0.40981	T	0.002252	0.01652	T	-0.226986	0.17050	T	-0.563826	0.16018	T	0.00121378364001231	0.00012	T	0.040196	0.00279	T	0.02891686	0.02304	0.06176681	0.11979	0.02891686	0.02303	0.06176681	0.11978	3.989	0.00009	T	.	.	0.054	0.00309	B	.;.	.;.	-0.802459	0.01102	0.050	0.076090067256528657	0.00046	0.00006	0.00120	N	AEFDI	0.015293	0.00284	N	-1.43597596059633	0.02329	0.1027233	-1.48379537463369	0.02477	0.1139815	8.70893701370907E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.628	0.628	0.16854	0.233000	0.17689	-0.954000	0.06803	-0.920000	0.02202	0.019000	0.19563	0.000000	0.08366	0.578000	0.30845	.	.	.	683	0.59664	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	290.39	5	chr10	87365166	.	C	T	290.39	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.308;DP=52;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=38.13;MQRankSum=-0.736;QD=22.34;ReadPosRankSum=-0.743;SOR=1.609	GT:AD:DP:GQ:PL	0/1:4,9:13:99:300,0,121	5	0	1	1
chr10	101694600	101694600	-	CCT	exonic	FBXW4	.	nonframeshift insertion	FBXW4:NM_022039:exon1:c.505_506insAGG:p.E168_A169insE	.	.	.	.	.	.	.	.	.	.	.	584602	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0048	0.00359425	0	0	0	0	0	0	0	0	0.0001164	18	154602	rs560966094	0.0006	0.0007	0.0007	0.0006	0.0143	0.0006	0.0006	0.0131	0.0127	0.0143	0.0007	0.0001	0.0014	0.0024	0.0009	0.0001	0.0021	0.0004	0.0043	0.0043	0.0042	0.0043	0.0132	0.0040	0.0039	0.0123	0.0119	0.0132	0	0.0024	0	0.0037	0.0012	0.0034	0.0004	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32.23	22	chr10	101694600	.	G	GCCT	32.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.013;DP=136;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.875;SOR=0.188	GT:AD:DP:GQ:PL	0/1:14,2:16:42:42,0,570	5	0	1	1
chr10	102067202	102067202	G	T	exonic	HPS6	.	nonsynonymous SNV	HPS6:NM_024747:exon1:c.G1728T:p.E576D	Hermansky-Pudlak syndrome 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.234011822363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.116	0.36497	T	0.974	0.57829	D	0.736	0.55529	P	0.000043	0.53742	D	0.126959	0.764582	0.34078	D	2.2	0.62015	M	-1.3	0.79571	T	-1.98	0.45769	N	0.146	0.14763	0.057	0.83369	D	0.490	0.80604	T	10	0.38225365	0.54282	T	0.234012	0.88391	D	0.325	0.64725	0.195	0.10705	0.878187718299	0.87699	0.39197833937464027	0.39112	1.27320162411	0.82335	0.346680939198	0.17432	T	0.342836	0.71156	T	-0.0250291	0.48134	T	-0.273729	0.47443	T	0.903548955917358	0.55678	D	0.641436	0.25361	T	0.122643106	0.28815	0.11861027	0.28631	0.122643106	0.28815	0.11861027	0.28630	-4.075	0.24920	T	0.13665281020349335	0.14965	0.297	0.52720	B	.	.	2.575836	0.33391	19.32	0.99660283038280895	0.77883	0.89465	0.49947	D	AEFDBCI	0.283395	0.39651	N	0.0404521422861704	0.43706	2.658198	-0.0133504120124776	0.39110	2.314062	0.99988190499861	0.44867	0.695654	0.57023	0	0.685571	0.66316	0	0.723109	0.80598	0	0.662433	0.64102	0	.	.	5.1	2.26	0.27418	1.327000	0.33352	2.124000	0.30738	-0.124000	0.13482	1.000000	0.71638	1.000000	0.68203	0.716000	0.34643	0.3153:0.0:0.6847:0.0	9.418	0.37695	534	0.73357	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	759.63	37	chr10	102067202	.	G	T	759.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.261;DP=243;ExcessHet=0;FS=0.95;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-1.989;SOR=0.538	GT:AD:DP:GQ:PL	0/1:33,32:65:99:770,0,909	6	0	1	0
chr10	104212153	104212153	C	T	exonic	CFAP43	.	nonsynonymous SNV	CFAP43:NM_025145:exon5:c.G589A:p.V197M	.	432	1070	18	2	0	22	0.0101758	.	.	.	737336	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.098	0.0587313912407	0.0042	0.00339457	0.0039	0.0006	0.0018	0	0.0006	0.0058	0.0022	0.0032	0.0040297	623	154602	rs117768807	0.0050	0.0050	0.0050	0.0050	0.0080	0.0049	0.0049	0.0061	0.0055	0.0006	0.0034	0.0278	2.521e-05	0.0010	0.0080	0.0051	0.0058	0.0036	0.0035	0.0035	0.0039	0.0030	0.0046	0.0032	0.0032	0.0042	0.0040	0.0006	0	0.0046	0.0242	0	0.0011	0.0068	0.0046	0.0052	0.0029	0.003	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.973	0.72923	D	0.218985	0.16184	N	0.453907	0.554712	0.32163	D	.	.	.	1.58	0.70365	T	-1.75	0.45949	N	0.595	0.62526	-0.3135	0.74606	T	0.316	0.68566	T	10	0.00836578	0.00190	T	0.058731	0.67421	D	0.098	0.28162	.	.	0.652543851182	0.64965	0.4802863234926715	0.47948	0.488469659113	0.47645	0.424935042858	0.28515	T	0.078936	0.36010	T	-0.367765	0.03708	T	-0.299126	0.44817	T	0.0217730207700796	0.00883	T	0.831417	0.49863	T	0.09003141	0.21053	0.14748919	0.34901	0.10236114	0.24187	0.15738854	0.36803	-4.016	0.24042	T	.	.	0.269	0.50324	B	.;.;.;.	.;.;.;.	2.332787	0.29889	18.26	0.99672182759038686	0.78652	0.23303	0.22032	N	AEFBI	0.052138	0.09278	N	-0.0973471248305819	0.37507	2.183208	-0.259576539825165	0.29442	1.649586	1.43339874387244E-4	0.05573	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.51	2.27	0.27501	0.872000	0.27688	-0.193000	0.11018	0.599000	0.40250	0.518000	0.27096	0.000000	0.08366	0.378000	0.26290	0.0:0.7205:0.0:0.2795	9.092	0.35780	252	0.90114	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006048	0.005051	0.004076	0.008772	0.000000	0.008621	0.012195	0.000000	0.07143	926.44	34	chr10	104212153	.	C	T	926.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.388;DP=307;ExcessHet=0;FS=0.694;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.66;ReadPosRankSum=-0.791;SOR=0.618	GT:AD:DP:GQ:PL	0/1:76,45:121:99:937,0,1848	6	0	1	0
chr10	113908390	113908390	A	G	exonic	NHLRC2	.	nonsynonymous SNV	NHLRC2:NM_198514:exon11:c.A2035G:p.I679V	.	431	1085	6	0	0	6	0.00275735	.	.	.	3210280	NHLRC2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.036	.	0.0006	0.0129792	0.0054	0.0008	0.0030	0.0449	0.0129	0.0019	0.0132	0.0004	0.0051099	790	154602	rs113108393	0.0026	0.0026	0.0027	0.0025	0.0430	0.0025	0.0025	0.0413	0.0406	0.0004	0.0025	0.0055	0.0430	0.0153	0.0007	0.0006	0.0042	0.0010	0.0035	0.0035	0.0030	0.0040	0.0485	0.0032	0.0031	0.0436	0.0417	0.0007	0	0.0013	0.0072	0.0485	0.0125	0	0.0009	0.0028	0.0015	0.487	0.08067	T	0.67	0.06305	T	0.0	0.02946	B	0.0	0.01387	B	0.864185	0.07135	N	1.059570	1	0.08975	N	-1.155	0.00891	N	1.06	0.39781	T	0.15	0.05310	N	0.009	0.00081	-1.0261	0.21723	T	0.006	0.02206	T	10	0.00133425	0.00014	T	.	.	.	0.036	0.09122	.	.	0.18274738541	0.17906	0.12912560568796605	0.12837	0.109512694479	0.12349	0.255413293839	0.04359	T	0.001038	0.00564	T	-0.733225	0.00023	T	-0.791695	0.02118	T	0.00463575380743118	0.00050	T	0.533547	0.17787	T	0.015722707	0.00154	0.028275818	0.01048	0.015722707	0.00153	0.028275818	0.01048	-2.157	0.03837	T	0.06300369559291419	0.01906	0.057	0.00543	B	.	.	-0.951858	0.00842	0.029	0.29695619085243258	0.01588	0.00897	0.03520	N	AEFGBI	0.027545	0.02270	N	-1.35571563892856	0.03066	0.1363866	-1.29362703050689	0.04516	0.2131898	0.375575432442014	0.19911	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.77	-2.6	0.05830	-0.792000	0.04700	-0.638000	0.08091	-0.624000	0.04539	0.000000	0.06391	0.000000	0.08366	0.979000	0.57723	0.5549:0.0:0.4451:0.0	12.757	0.56717	632	0.64850	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.07143	1815.45	34	chr10	113908390	.	A	G	1815.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.32;DP=367;ExcessHet=0;FS=1.82;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=-1.551;SOR=0.632	GT:AD:DP:GQ:PL	0/1:98,86:184:99:1826,0,2223	6	0	1	0
chr10	114846059	114846059	T	C	exonic	FAM160B1	.	nonsynonymous SNV	FAM160B1:NM_001135051:exon9:c.T1175C:p.I392T,FAM160B1:NM_020940:exon9:c.T1175C:p.I392T	.	433	1080	8	1	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00340446919696	0.0007	0.00179712	0.0004	0.0030	0.0003	0	0	0.0002	0	0.0002	0.0004398	68	154602	rs141384483	0.0003	0.0003	0.0003	0.0003	0.0041	0.0003	0.0003	0.0036	0.0033	0.0041	0.0003	0	7.557e-05	3.744e-05	0.0016	0.0002	0.0004	0.0002	0.0009	0.0009	0.0011	0.0008	0.0027	0.0008	0.0008	0.0023	0.0021	0.0027	0	0.0003	0	0	9.414e-05	0.0034	0.0003	0.0019	0.0002	0.11	0.29158	T	0.584	0.08390	T	0.036	0.23728	B	0.11	0.31460	B	0.000944	0.40932	D	0.281133	0.574766	0.31149	N	1.24	0.30952	L	1.59	0.28836	T	-0.96	0.26843	N	0.283	0.32037	-1.0579	0.12286	T	0.052	0.22269	T	10	0.008409739	0.00191	T	0.003404	0.07633	T	0.069	0.20116	.	.	0.043077524339	0.03247	0.18014373544763146	0.17933	0.321905203101	0.34388	0.472686350346	0.35050	T	0.038369	0.24814	T	-0.456274	0.01036	T	-0.432798	0.29619	T	0.0106944917323778	0.00150	T	0.886711	0.61387	D	0.043607876	0.06825	0.058518987	0.10825	0.043607876	0.06824	0.058518987	0.10825	-5.371	0.40640	T	.	.	0.061	0.01179	B	.;.	.;.	2.672892	0.34853	19.74	0.97410723195539306	0.33820	0.98246	0.80894	D	AEFBI	0.537354	0.55519	D	-0.0907147984975746	0.37800	2.204368	0.141878285828802	0.46715	2.912881	0.995534384075483	0.34180	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	4.983000	0.63555	4.213000	0.42544	0.665000	0.62972	1.000000	0.71638	0.859000	0.27469	0.994000	0.71098	0.0:0.0:0.1345:0.8655	12.987	0.57998	925	0.17918	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1447.44	33	chr10	114846059	.	T	C	1447.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.009;DP=315;ExcessHet=0;FS=0.763;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=0.011;SOR=0.606	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1458,0,1595	6	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	180.29	52	chr10	122983003	.	G	C	180.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.551;DP=476;ExcessHet=3.1439;FS=169.002;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.185;SOR=10.163	GT:AD:DP:GQ:PL	0/1:58,17:84:45:45,0,938	2	0	4	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5111.58	74	chr10	124989543	.	T	C	5111.58	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-2.47;DP=632;ExcessHet=8.2628;FS=5.084;MLEAC=6;MLEAF=0.429;MQ=49.7;MQRankSum=-8.248;QD=8.28;ReadPosRankSum=0.054;SOR=0.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,27:109:99:0|1:124989533_G_A:746,0,3271:124989533	1	0	6	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1928.55	63	chr10	124989564	.	TG	T	1928.55	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.034;DP=665;ExcessHet=8.2628;FS=4.831;MLEAC=6;MLEAF=0.429;MQ=51.84;MQRankSum=-7.441;QD=3.07;ReadPosRankSum=-2.098;SOR=0.329	GT:AD:DP:GQ:PL	0/1:102,22:124:99:266,0,3413	1	0	6	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3134.26	98	chr10	124994489	.	T	G	3134.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.89;DP=858;ExcessHet=8.2628;FS=29.968;MLEAC=6;MLEAF=0.5;MQ=58.08;MQRankSum=-6.558;QD=3.87;ReadPosRankSum=-4.084;SOR=3.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,17:151:99:0|1:124994489_T_G:310,0,5531:124994489	0	0	6	1
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3924.26	101	chr10	124994501	.	G	A	3924.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.105;DP=905;ExcessHet=8.2628;FS=37.587;MLEAC=6;MLEAF=0.5;MQ=57.54;MQRankSum=-6.141;QD=4.68;ReadPosRankSum=-2.339;SOR=3.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,20:157:99:0|1:124994489_T_G:428,0,5605:124994489	0	0	6	1
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	4089.26	106	chr10	124994505	.	A	T	4089.26	.	AC=6;AF=0.5;AN=12;BaseQRankSum=2.53;DP=948;ExcessHet=11.5949;FS=40.326;MLEAC=6;MLEAF=0.5;MQ=57.33;MQRankSum=-6.081;QD=4.77;ReadPosRankSum=-1.376;SOR=3.44	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,21:164:99:0|1:124994489_T_G:443,0,5734:124994489	0	0	6	1
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5877.14	117	chr10	124994530	.	G	A	5877.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.226;DP=1014;ExcessHet=14.2834;FS=51.694;MLEAC=7;MLEAF=0.5;MQ=56.88;MQRankSum=-5.524;QD=6.41;ReadPosRankSum=1.14;SOR=3.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,30:158:99:0|1:124994523_G_A:841,0,5200:124994523	0	0	7	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3259.14	118	chr10	124994542	.	C	T	3259.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.257;DP=1044;ExcessHet=14.2834;FS=75.76;MLEAC=7;MLEAF=0.5;MQ=56.81;MQRankSum=-5.466;QD=3.6;ReadPosRankSum=2.25;SOR=4.636	GT:AD:DP:GQ:PL	0/1:128,35:163:99:550,0,3396	0	0	7	0
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	3339.14	115	chr10	124994563	.	A	T	3339.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-1.931;DP=1058;ExcessHet=14.2834;FS=82.34;MLEAC=7;MLEAF=0.5;MQ=56.58;MQRankSum=-5.915;QD=3.6;ReadPosRankSum=2.9;SOR=4.841	GT:AD:DP:GQ:PL	0/1:132,39:171:99:514,0,3449	0	0	7	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	8046.14	115	chr10	124994577	.	C	A	8046.14	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.628;DP=1069;ExcessHet=14.2834;FS=72.991;MLEAC=7;MLEAF=0.5;MQ=56.56;MQRankSum=-5.892;QD=8.45;ReadPosRankSum=2.39;SOR=4.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,40:161:99:0|1:124994577_C_A:1315,0,4838:124994577	0	0	7	0
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	632.29	68	chr10	125003062	.	T	A	632.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.345;DP=621;ExcessHet=2.5225;FS=10.332;MLEAC=4;MLEAF=0.333;MQ=57.1;MQRankSum=-4.221;QD=2.54;ReadPosRankSum=1.29;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,7:96:1:0|1:125003062_T_A:1,0,3647:125003062	2	0	4	1
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	632.29	68	chr10	125003065	.	T	A	632.29	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.345;DP=624;ExcessHet=2.5225;FS=10.332;MLEAC=4;MLEAF=0.333;MQ=57.12;MQRankSum=-4.221;QD=2.54;ReadPosRankSum=1.29;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,7:96:1:0|1:125003062_T_A:1,0,3647:125003062	2	0	4	1
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	818.61	70	chr10	125003381	.	AC	A	818.61	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.088;DP=460;ExcessHet=4.7409;FS=0.879;MLEAC=5;MLEAF=0.357;MQ=58.87;MQRankSum=-8.474;QD=2.25;ReadPosRankSum=-1.303;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,6:77:38:0|1:125003381_AC_A:38,0,2955:125003381	2	0	5	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	880.62	55	chr10	125003448	.	G	C	880.62	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.012;DP=391;ExcessHet=6.1542;FS=0.585;MLEAC=5;MLEAF=0.417;MQ=58.6;MQRankSum=-7.5;QD=2.92;ReadPosRankSum=1.08;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,6:76:41:0|1:125003425_G_C:41,0,2921:125003425	1	0	5	1
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	628.04	52	chr10	125003450	.	G	A	628.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.277;DP=381;ExcessHet=6.1542;FS=7.682;MLEAC=5;MLEAF=0.417;MQ=58.83;MQRankSum=-7.344;QD=2.12;ReadPosRankSum=0.905;SOR=1.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,6:77:38:0|1:125003425_G_C:38,0,2963:125003425	1	0	5	1
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	622.15	49	chr10	125003453	.	CG	C	622.15	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.012;DP=382;ExcessHet=4.7409;FS=7.698;MLEAC=5;MLEAF=0.357;MQ=58.84;MQRankSum=-7.275;QD=2.09;ReadPosRankSum=0.608;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,6:79:32:0|1:125003425_G_C:32,0,3047:125003425	2	0	5	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	649.04	50	chr10	125003460	.	G	T	649.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.579;DP=375;ExcessHet=6.1542;FS=7.7;MLEAC=5;MLEAF=0.417;MQ=58.81;MQRankSum=-7.413;QD=2.25;ReadPosRankSum=-0.178;SOR=1.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,6:71:56:0|1:125003425_G_C:56,0,2711:125003425	1	0	5	1
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	572.04	49	chr10	125003466	.	G	T	572.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.115;DP=368;ExcessHet=6.1542;FS=7.971;MLEAC=5;MLEAF=0.417;MQ=58.91;MQRankSum=-7.549;QD=2.01;ReadPosRankSum=-0.536;SOR=1.323	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,6:70:59:0|1:125003425_G_C:59,0,2669:125003425	1	0	5	1
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	569.04	51	chr10	125003468	.	C	A	569.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.798;DP=359;ExcessHet=6.1542;FS=10.58;MLEAC=5;MLEAF=0.417;MQ=58.82;MQRankSum=-7.616;QD=1.99;ReadPosRankSum=-0.893;SOR=1.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,6:71:56:0|1:125003425_G_C:56,0,2705:125003425	1	0	5	1
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	560.04	50	chr10	125003470	.	G	T	560.04	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.632;DP=353;ExcessHet=6.1542;FS=9.008;MLEAC=5;MLEAF=0.417;MQ=58.84;MQRankSum=-7.514;QD=2.04;ReadPosRankSum=-0.874;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,6:67:68:0|1:125003425_G_C:68,0,2537:125003425	1	0	5	1
chr11	551741	551741	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C887T:p.S296F	.	412	1059	49	2	0	53	0.0244127	.	.	.	1566203	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0025	0.00878594	0.0071	0.0007	0.0025	0.0004	0.0005	0.0040	0.0162	0.0334	0.0065846	1018	154602	rs139348192	0.0056	0.0057	0.0049	0.0065	0.0340	0.0055	0.0055	0.0330	0.0326	0.0007	0.0020	0.0049	0.0002	0.0006	0.0142	0.0041	0.0064	0.0340	0.0039	0.0039	0.0038	0.0039	0.0342	0.0036	0.0035	0.0299	0.0283	0.0008	0	0.0022	0.0052	0	0.0002	0.0068	0.0048	0.0043	0.0342	0.004	0.65419	D	0.031	0.53788	D	0.989	0.62824	D	0.809	0.58564	P	0.020131	0.27106	N	0.349867	0.999995	0.08975	N	2.665	0.77964	M	2.62	0.12988	T	-2.4	0.52776	N	0.461	0.49783	-1.1131	0.02817	T	0.046	0.19680	T	10	0.0036670566	0.00067	T	.	.	.	0.104	0.29647	.	.	0.376921832658	0.37306	0.40103892264460156	0.40018	.	.	0.481672912836	0.36288	T	0.012776	0.11168	T	-0.475094	0.00791	T	-0.430841	0.29840	T	0.0282370238378752	0.01722	T	0.677032	0.28590	T	0.10101317	0.23857	0.13709292	0.32779	0.10101317	0.23857	0.13709292	0.32778	-5.382	0.40746	T	0.7726946834992914	0.85352	0.153	0.33913	B	.	.	3.203815	0.43583	21.8	0.99637721640869203	0.76449	0.37578	0.25793	N	AEFDGBHCI	0.138923	0.26037	N	0.110799777074831	0.46966	2.929038	0.0309368537939218	0.41158	2.468169	0.999999974760928	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	2.008000	0.40513	5.577000	0.48958	0.599000	0.40250	0.007000	0.17678	0.960000	0.29291	0.005000	0.06747	0.0:1.0:0.0:0.0	11.786	0.51314	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.008174	0.005917	0.050000	0.000000	0.033537	0.022727	0.1429	2271.29	34	chr11	551741	.	C	T	2271.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.08;DP=346;ExcessHet=0.3476;FS=3.903;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.71;ReadPosRankSum=0.409;SOR=0.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,55:116:99:0|1:551741_C_T:1314,0,1581:551741	5	0	2	0
chr11	688048	688048	G	C	exonic	DEAF1	.	nonsynonymous SNV	DEAF1:NM_001293634:exon4:c.C527G:p.S176C,DEAF1:NM_021008:exon4:c.C527G:p.S176C	Mental retardation, autosomal dominant 24, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0205343924269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.036	0.52060	D	0.0	0.02946	B	0.0	0.01387	B	0.000202	0.47681	N	0.142496	0.778589	0.34238	D	1.87	0.49600	L	-0.27	0.67367	T	-1.65	0.39503	N	0.213	0.23758	-0.8118	0.54442	T	0.167	0.50518	T	10	0.17017576	0.31667	T	0.020534	0.43144	T	0.114	0.32008	0.293	0.25560	0.762667321472	0.76050	0.7263197216113774	0.72575	0.58778103844	0.54343	0.593663811684	0.52011	T	0.336139	0.70568	T	-0.0963287	0.37032	T	-0.376146	0.36172	T	0.874187886714935	0.52404	D	0.761924	0.38711	T	0.08879092	0.20723	0.091409385	0.21490	0.08879092	0.20723	0.091409385	0.21490	-6.302	0.48738	T	0.1431884826060597	0.16256	0.081	0.08176	B	.	.	3.462355	0.48268	22.6	0.94980513396789368	0.25919	0.97229	0.73454	D	AEFDBI	0.717115	0.66873	D	-0.161621045531967	0.34742	1.986743	0.0077609156840293	0.40073	2.385892	0.955011933045826	0.28164	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	3.71	0.41733	6.170000	0.71810	9.048000	0.78632	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.949000	0.49496	0.0:0.3403:0.6597:0.0	12.693	0.56352	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1396.34	33	chr11	688048	.	G	C	1396.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.072;DP=263;ExcessHet=0.3476;FS=5.397;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.59;SOR=0.366	GT:AD:DP:GQ:PL	0/1:37,32:69:99:752,0,911	5	0	2	0
chr11	1018227	1018227	A	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	361.38	121	chr11	1018227	.	A	*	361.38	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.251;DP=1034;ExcessHet=0.3476;FS=4.944;MLEAC=1;MLEAF=0.083;MQ=56.67;MQRankSum=-6.8;QD=1.02;ReadPosRankSum=-0.022;SOR=0.872	GT:AD:DP:GQ:PL	0/1:174,22:196:99:355,0,7870	5	0	1	1
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	260.59	117	chr11	1018228	.	G	*	260.59	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.89;DP=1044;ExcessHet=2.5225;FS=20.798;MLEAC=2;MLEAF=0.167;MQ=56.67;MQRankSum=-5.217;QD=0.45;ReadPosRankSum=-0.817;SOR=2.571	GT:AD:DP:GQ:PL	0/1:185,22:212:99:367,0,7702	4	0	2	1
chr11	1018597	1018597	T	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.4204delA:p.T1402Pfs*54	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1865.61	36	chr11	1018596	.	GT	G	1865.61	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.1;DP=283;ExcessHet=0.3476;FS=3.224;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=-0.576;SOR=0.694	GT:AD:DP:GQ:PL	0/1:29,30:59:99:879,0,845	5	0	2	0
chr11	1096234	1096234	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429311026	7.847e-05	0.0004	6.154e-05	9.592e-05	0.0005	6.585e-05	6.15e-05	0.0004	0.0003	6.925e-05	9.2e-05	0.0003	3.492e-05	5.51e-05	0.0002	4.366e-05	9.403e-05	0.0005	0.0035	0.0081	0.0031	0.0039	0.0083	0.0032	0.0031	0.0056	0.0047	0.0037	0.0078	0.0034	0.0021	0.0083	0.0091	0.0455	0.0021	0.0087	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1082.24	301	chr11	1096234	.	T	C	1082.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.48;DP=1956;ExcessHet=0.3476;FS=9.548;MLEAC=2;MLEAF=0.143;MQ=57.39;MQRankSum=-5.714;QD=2.13;ReadPosRankSum=-4.78;SOR=1.513	GT:AD:DP:GQ:PL	0/1:217,35:252:99:408,0,8148	5	0	2	0
chr11	1096464	1096464	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	559	960	3	0	0	3	0.00156006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1428478288	0.0001	0.0024	0.0001	0.0001	0.0009	0.0001	0.0001	0.0004	0.0002	0	5.795e-05	0.0002	2.921e-05	2.862e-05	0.0009	0.0001	0.0002	7.793e-05	0.0006	0.0017	0.0006	0.0005	0.0008	0.0005	0.0004	0.0006	0.0006	0.0001	0	0.0006	0.0026	0	0	0	0.0008	0.0010	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	486.44	161	chr11	1096464	.	C	A	486.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.125;DP=1233;ExcessHet=0;FS=6.283;MLEAC=1;MLEAF=0.071;MQ=53.79;MQRankSum=-1.797;QD=3.16;ReadPosRankSum=-1.638;SOR=1.319	GT:AD:DP:GQ:PL	0/1:121,33:154:99:497,0,3246	6	0	1	0
chr11	1097404	1097404	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	725	773	23	0	1	24	0.014659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0220	0.0089	0	0.0172	0.0135	0.0152	0.0312	0.0510	0.0002458	38	154602	rs1263995397	0.0102	0.0083	0.0109	0.0095	0.0188	0.0098	0.0096	0.0123	0.0121	0.0056	0.0066	0.0112	0.0034	0.0078	0.0188	0.0129	0.0119	0.0030	0.0079	0.0098	0.0081	0.0076	0.0102	0.0071	0.0068	0.0089	0.0084	0.0045	0.0112	0.0069	0.0055	0.0088	0.0089	0	0.0102	0.0089	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.373884	0.412371	0.380342	0.305970	0.428571	0.250000	0.412621	0.349057	0.25	50.89	86	chr11	1097404	.	C	T	50.89	.	AC=1;AF=0.25;AN=4;BaseQRankSum=1.95;DP=571;ExcessHet=0;FS=21.805;MLEAC=2;MLEAF=0.5;MQ=34.16;MQRankSum=-2.002;QD=1;ReadPosRankSum=-1.288;SOR=3.59	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,5:51:56:0|1:1097377_T_C:56,0,1861:1097377	1	0	1	5
chr11	1098021	1098021	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	595	926	1	0	0	1	0.000539665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.137e-05	0.0001	3.161e-05	3.113e-05	3.499e-05	2.258e-05	1.992e-05	2.425e-05	2.088e-05	0	0	4.321e-05	0	0	0	3.499e-05	8.278e-05	1.359e-05	2.708e-05	0.0001	1.323e-05	4.161e-05	3.022e-05	8.33e-06	5.27e-06	5.01e-06	1.88e-06	2.487e-05	0	0	0.0003	0	0	0	3.022e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	321.44	282	chr11	1098021	.	C	A	321.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.823;DP=1497;ExcessHet=0;FS=10.39;MLEAC=1;MLEAF=0.071;MQ=42.24;MQRankSum=2.09;QD=1.42;ReadPosRankSum=3.12;SOR=0.903	GT:AD:DP:GQ:PL	0/1:184,43:227:99:332,0,4313	6	0	1	0
chr11	1098120	1098120	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	615	888	19	0	0	19	0.010585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221177584	0.0007	0.0036	0.0007	0.0006	0.0040	0.0006	0.0006	0.0034	0.0031	0.0014	0.0006	0.0009	0.0040	0.0003	0.0007	0.0005	0.0009	0.0004	0.0017	0.0041	0.0020	0.0014	0.0042	0.0014	0.0013	0.0020	0.0017	0.0027	0	0.0010	0.0013	0.0042	0.0006	0	0.0015	0.0027	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	707.44	120	chr11	1098120	.	C	A	707.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.667;DP=574;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=38.68;MQRankSum=-1.618;QD=3.65;ReadPosRankSum=-0.569;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,7:74:92:0|1:1098094_C_T:92,0,2669:1098094	5	0	2	0
chr11	1098124	1098124	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	631	864	27	0	0	27	0.0153846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320109801	0.0016	0.0060	0.0017	0.0015	0.0031	0.0015	0.0015	0.0025	0.0023	0.0012	0.0010	0.0021	0.0031	0.0020	0.0023	0.0016	0.0019	0.0007	0.0023	0.0048	0.0024	0.0022	0.0042	0.0019	0.0018	0.0018	0.0017	0.0026	0	0.0013	0.0025	0.0036	0.0014	0	0.0024	0.0037	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	732.09	105	chr11	1098124	.	C	T	732.09	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-1.819;DP=541;ExcessHet=0.3476;FS=2.164;MLEAC=2;MLEAF=0.2;MQ=36.56;MQRankSum=-1.383;QD=4.26;ReadPosRankSum=-1.399;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,7:67:99:0|1:1098094_C_T:113,0,2477:1098094	3	0	2	2
chr11	1182416	1182416	C	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.C4271A:p.P1424H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.412	0.45237	.	.	.	.	.	.	.	0.35969213	0.52631	T	.	.	.	.	.	.	.	.	.	0.4888661874915876	0.48806	.	.	.	.	.	0.284409	0.65718	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.935	0.89093	D	.	.	0.851	0.79840	P	.	.	3.496110	0.48888	22.7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.829000	0.55461	5.423000	0.48571	0.535000	0.24933	0.990000	0.36992	1.000000	0.68203	0.003000	0.05239	.	.	.	.	.	WxxW domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1352.46	50	chr11	1182416	.	C	A	1352.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.78;DP=450;ExcessHet=0;FS=1.533;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.196;SOR=0.626	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1363,0,1308	6	0	1	0
chr11	1621998	1621998	G	0	exonic	KRTAP5-4	.	.	.	.	590	340	341	209	42	801	0.52745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	5724.03	47	chr11	1621998	.	G	*	5724.03	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.81;DP=462;ExcessHet=0.0509;FS=0.583;MLEAC=2;MLEAF=0.143;MQ=59.63;MQRankSum=-0.108;QD=19.08;ReadPosRankSum=-0.484;SOR=0.75	GT:AD:DP:GQ:PL	0/1:0,20:52:99:1602,863,1175	5	0	2	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2143	5304.74	33	chr11	1956322	.	G	A	5304.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.957;DP=590;ExcessHet=1.1394;FS=2.427;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.206;SOR=0.555	GT:AD:DP:GQ:PL	0/1:76,94:170:99:2112,0,1674	4	0	3	0
chr11	2140200	2140200	G	A	exonic	IGF2	.	stopgain	IGF2:NM_001127598:exon2:c.C97T:p.Q33X	.	416	1102	4	0	0	4	0.00181159	.	.	.	730756	not_provided|Inborn_genetic_diseases|Wilms_tumor_1|Beckwith-Wiedemann_syndrome|Silver-Russell_syndrome_1|Silver-Russell_syndrome_3	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654|MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116|MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813|MONDO:MONDO:0014663,MedGen:C4225307,OMIM:616489	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000798722	0.0007	0	0.0012	0	0.0003	0.0009	0	0.0009	0.0006792	105	154602	rs200441006	0.0011	0.0011	0.0011	0.0012	0.0013	0.0011	0.0011	0.0012	0.0012	8.964e-05	0.0008	0.0005	2.519e-05	7.55e-05	0.0003	0.0013	0.0010	0.0013	0.0007	0.0007	0.0007	0.0006	0.0014	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0014	0	0.0002	0.0002	0	0.0010	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.566	0.58968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157435	0.69963	D	0.407817	0.92363	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	1.850866	0.23511	16.05	0.99691291202444132	0.79977	0.15169	0.18778	N	AEFDBHCI	0.119758	0.23360	N	0.409517858981619	0.61944	4.402692	0.0797033656612907	0.43530	2.652803	0.999571511099646	0.40495	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	1.9	0.928	0.18569	1.099000	0.30625	1.455000	0.26636	0.504000	0.22967	0.033000	0.20612	0.903000	0.28003	0.987000	0.62547	0.2462:0.0:0.7538:0.0	3.812	0.08316	988	0.01987	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.1429	2107.24	37	chr11	2140200	.	G	A	2107.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.28;DP=406;ExcessHet=0.3476;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.744;SOR=0.505	GT:AD:DP:GQ:PL	0/1:80,60:140:99:1196,0,1836	5	0	2	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	451.68	91	chr11	5351792	.	C	G	451.68	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-4.374;DP=829;ExcessHet=1.383;FS=326.763;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.07;ReadPosRankSum=-0.268;SOR=9.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:111,26:160:42:.:.:42,0,2964:.	2	0	3	2
chr11	6564079	6564079	G	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239T:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0382555557882	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.968056	0.25819	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36650217	0.53143	T	0.038256	0.58114	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322022310563103	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.0803725	0.39654	T	-0.353226	0.38835	T	0.575473140834996	0.35444	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.351542	0.30146	18.35	0.98962345709910715	0.49364	0.86148	0.45374	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	56.5	47	chr11	6564079	.	G	T	56.5	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.768;DP=415;ExcessHet=0;FS=253.817;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.559;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,17:80:66:.:.:66,0,657:.	5	0	1	1
chr11	6623077	6623077	C	T	exonic	DCHS1	.	nonsynonymous SNV	DCHS1:NM_003737:exon21:c.G8599A:p.A2867T	Mitral valve prolapse 2, Autosomal dominant;Van Maldergem syndrome 1, Autosomal recessive	428	1076	18	0	0	18	0.00829493	.	.	.	1196080	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.052	.	0.0057	0.00379393	0.0100	0.0028	0.0067	0	0.0016	0.0160	0.0061	0.0039	0.0046507	719	154602	rs146233988	0.0065	0.0065	0.0066	0.0065	0.0113	0.0064	0.0064	0.0091	0.0083	0.0011	0.0046	0.0212	2.593e-05	0.0008	0.0113	0.0071	0.0078	0.0030	0.0053	0.0053	0.0054	0.0051	0.0079	0.0050	0.0049	0.0070	0.0068	0.0013	0	0.0079	0.0210	0	0.0006	0.0034	0.0076	0.0080	0.0041	0.21	0.19639	T	0.56	0.09113	T	0.001	0.07471	B	0.002	0.06944	B	0.001414	0.39109	N	0.000000	0.990491	0.24163	N	0.175	0.09039	N	0.23	0.59717	T	-1.3	0.32590	N	0.308	0.34767	-1.0651	0.10526	T	0.062	0.25672	T	10	0.011419386	0.00250	T	.	.	.	0.052	0.14661	.	.	0.272557281605	0.26857	0.3646127875677745	0.36375	0.183227035329	0.20612	0.364038228989	0.19972	T	0.089174	0.38315	T	-0.449616	0.01135	T	-0.412645	0.31922	T	0.00922406063220715	0.00117	T	0.712529	0.32403	T	0.047270615	0.08051	0.07459197	0.16333	0.047270615	0.08051	0.07459197	0.16332	-5.334	0.40278	T	.	.	0.071	0.04002	B	.	.	2.289612	0.29282	18.07	0.98327669376725069	0.40309	0.14302	0.18331	N	AEFDBI	.	.	.	-0.467978113883131	0.23135	1.240253	-0.287298167383484	0.28516	1.590583	0.999981505549986	0.51787	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.97	4.97	0.65419	1.372000	0.33866	4.064000	0.41610	0.599000	0.40250	0.011000	0.18532	1.000000	0.68203	0.993000	0.69303	0.0:0.826:0.0:0.174	7.380	0.26025	539	0.73055	Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010585	0.020408	0.019022	0.008772	0.050000	0.008621	0.003049	0.000000	0.07143	850.83	33	chr11	6623077	.	C	T	850.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.656;DP=264;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=0.403;SOR=0.622	GT:AD:DP:GQ:PL	0/1:25,36:61:99:861,0,653	6	0	1	0
chr11	7691973	7691973	A	G	exonic	OVCH2	.	nonsynonymous SNV	OVCH2:NM_198185:exon13:c.T1436C:p.I479T	.	.	.	.	.	.	.	.	.	.	.	3469902	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00469459798419	0.0002	.	0.0001	0	0.0010	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367874438	6.615e-05	6.704e-05	6.124e-05	7.116e-05	0.0001	5.515e-05	5.119e-05	6.644e-05	5.388e-05	0	0	0	0	0	0	7.158e-05	0.0001	0.0001	5.915e-05	5.911e-05	7.708e-05	4.036e-05	8.819e-05	3.078e-05	2.21e-05	3.762e-05	2.575e-05	7.238e-05	0	0	0	0	0	0	8.819e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.023021	0.26524	N	0.268702	0.999442	0.21182	N	.	.	.	.	.	.	.	.	.	0.3	0.33904	-1.0704	0.09326	T	0.039	0.16978	T	10	0.08452457	0.14175	T	0.004695	0.11660	T	.	.	.	.	0.226586394389	0.22295	0.5168185919321072	0.51604	.	.	0.471952199936	0.34948	T	0.032766	0.22630	T	-0.0636517	0.42333	T	-0.0695286	0.65659	T	0.837069034576416	0.49090	D	0.739226	0.35772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30765	B	.;.	.;.	3.044420	0.40826	21.2	0.99309170776257294	0.58943	0.77278	0.37978	D	AEFBHCIJ	0.124716	0.24090	N	0.0645996812780982	0.44815	2.748879	0.0991468785882716	0.44505	2.731047	0.996727954942703	0.34958	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	.	.	5.09	2.7	0.31007	3.172000	0.50532	3.313000	0.37480	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.996000	0.76049	0.8179:0.0:0.1821:0.0	7.241	0.25272	793	0.45818	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1535.65	35	chr11	7691973	.	A	G	1535.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.76;DP=284;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.807;SOR=0.7	GT:AD:DP:GQ:PL	0/1:37,23:60:99:565,0,837	5	0	2	0
chr11	10779032	10779032	A	G	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.A3377G:p.E1126G,CTR9:NM_014633:exon25:c.A3449G:p.E1150G	.	430	1081	11	0	0	11	0.00506213	.	.	.	1156557	CTR9-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.064	0.00735543223924	0.0009	0.00159744	0.0013	0.0010	0.0022	0	0	0.0017	0.0022	0.0004	0.001313	203	154602	rs35023148	0.0011	0.0011	0.0011	0.0012	0.0196	0.0011	0.0011	0.0167	0.0156	0.0024	0.0029	0.0036	0	3.745e-05	0.0196	0.0009	0.0028	0.0004	0.0014	0.0014	0.0014	0.0014	0.0035	0.0013	0.0012	0.0027	0.0025	0.0009	0	0.0035	0.0026	0	0	0.0272	0.0014	0.0052	0.0004	0.191	0.21066	T	0.292	0.20877	T	0.0	0.02946	B	0.0	0.01387	B	0.000286	0.46274	D	0.251882	0.991945	0.41514	D	-0.46	0.02758	N	0.88	0.46028	T	0.1	0.05810	N	0.074	0.04790	-1.0621	0.11239	T	0.060	0.25018	T	10	0.007390231	0.00168	T	0.007355	0.19496	T	0.064	0.18567	.	.	0.279809986126	0.27602	0.12262613186542184	0.12188	0.284446444391	0.30868	0.429881513119	0.29193	T	0.038339	0.24803	T	-0.575505	0.00205	T	-0.6025	0.12602	T	0.0297061090305804	0.01944	T	0.814918	0.46941	T	0.06224066	0.12979	0.073870316	0.16098	0.06224066	0.12978	0.073870316	0.16098	-1.858	0.02688	T	.	.	0.060	0.00979	B	.	.	3.349515	0.46190	22.3	0.99559095297850686	0.71645	0.86493	0.45784	D	AEFBHCI	0.296098	0.40603	N	-0.339572229449747	0.27658	1.519175	-0.163911623868024	0.32876	1.874814	0.999999995954585	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	4.495000	0.60074	11.273000	0.91473	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.9279:0.0:0.0721:0.0	11.040	0.47042	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.026183	0.050505	0.028533	0.046784	0.000000	0.034483	0.009146	0.003788	0.07143	641.63	33	chr11	10779032	.	A	G	641.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.21;DP=222;ExcessHet=0;FS=2.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.52;ReadPosRankSum=-0.47;SOR=0.998	GT:AD:DP:GQ:PL	0/1:36,25:61:99:652,0,987	6	0	1	0
chr11	33085948	33085948	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1837T:p.P613S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.018622287866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.455e-06	1.231e-05	1.432e-06	1.48e-06	1.865e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.865e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	0.991	0.64070	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	.	.	.	-6.31	0.90812	D	0.525	0.55453	-0.4215	0.71343	T	0.412	0.75992	T	8	0.9084526	0.90210	D	0.018622	0.40743	T	0.385	0.70194	0.826	0.93721	0.511911713033	0.50833	0.885045201905812	0.88473	2.47938944519	0.97530	0.844974219799	0.88853	D	0.520901	0.83243	D	0.10266	0.64579	D	-0.0903126	0.64138	T	0.99573141336441	0.87972	D	0.960904	0.86380	D	0.54860973	0.69878	0.59958357	0.76740	0.54860973	0.69879	0.59958357	0.76741	-5.785	0.44443	T	.	.	0.983	0.91815	P	.;.	.;.	5.094266	0.85087	28.5	0.99882518470572146	0.95813	0.99420	0.95802	D	AEFBI	0.878547	0.80389	D	0.859076414803033	0.89619	10.04646	0.8834401244028	0.94808	13.06098	0.999999999990392	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	20.879	0.99870	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	278.83	35	chr11	33085948	.	G	A	278.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.387;DP=261;ExcessHet=0;FS=59.916;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.89;ReadPosRankSum=0.869;SOR=5.279	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,13:57:99:0|1:33085948_G_A:289,0,1664:33085948	6	0	1	0
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	295.46	43	chr11	33085953	.	G	A	295.46	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-0.694;DP=294;ExcessHet=0;FS=113.311;MLEAC=2;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.28;ReadPosRankSum=0.467;SOR=6.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,14:56:99:0|1:33085948_G_A:301,0,1618:33085948	2	0	1	4
chr11	44618328	44618328	G	A	exonic	CD82	.	nonsynonymous SNV	CD82:NM_001024844:exon7:c.G530A:p.S177N,CD82:NM_002231:exon8:c.G605A:p.S202N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0330163762235	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229038645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.47745	T	0.304	0.48594	T	0.023	0.18885	B	0.008	0.13708	B	0.001536	0.00796	N	6.849600	0.999976	0.18612	N	0.98	0.24916	L	-1.23	0.78860	T	-0.77	0.27463	N	0.241	0.31478	-0.9682	0.37571	T	0.335	0.70190	T	10	0.12190327	0.23118	T	0.033016	0.54684	D	0.188	0.46444	0.516	0.61611	0.778414144424	0.77637	0.4047954542806751	0.40395	0.203011207394	0.22717	0.310126125813	0.11925	T	0.243438	0.61237	T	-0.153491	0.27767	T	-0.458256	0.26790	T	0.115444271917285	0.13979	T	0.677032	0.28590	T	0.042503465	0.06457	0.049761225	0.07671	0.042503465	0.06457	0.049761225	0.07670	-4.544	0.31460	T	.	.	0.089	0.24733	B	.;.;.	.;.;.	-0.110432	0.03581	0.696	0.95982419840644806	0.28363	0.08443	0.14371	N	AEFBCI	0.363754	0.45253	N	-0.900667261894326	0.10827	0.5193166	-0.973949604269055	0.10372	0.5219953	0.988386887905631	0.31499	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.86	0.18	0.14352	-0.637000	0.05556	-1.105000	0.06316	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0947:0.3103:0.436:0.159	3.415	0.06945	940	0.13648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	874.63	34	chr11	44618328	.	G	A	874.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.874;DP=235;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=-0.635;SOR=0.606	GT:AD:DP:GQ:PL	0/1:26,35:61:99:885,0,566	6	0	1	0
chr11	44938231	44938231	G	A	exonic	TP53I11	.	nonsynonymous SNV	TP53I11:NM_001318388:exon2:c.C5T:p.T2M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	0.000199681	0.0005	0	0	0.0039	0	9.912e-05	0	0.0012	0.0003816	59	154602	rs564424905	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0002	0.0025	0.0024	5.979e-05	2.241e-05	0	0.0030	0	0.0005	5.397e-05	0.0002	0.0011	0.0002	0.0002	8.998e-05	0.0002	0.0029	0.0001	9.239e-05	0.0018	0.0015	0	0	0	0	0.0029	0	0	1.471e-05	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2723.65	33	chr11	44938231	.	G	A	2723.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.51;DP=397;ExcessHet=0.3476;FS=0.978;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-0.299;SOR=0.61	GT:AD:DP:GQ:PL	0/1:74,62:136:99:1465,0,1580	5	0	2	0
chr11	47350595	47350595	C	A	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon3:c.G313T:p.A105S	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	640128	Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.035578829257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.944e-06	4.104e-06	1.454e-06	4.472e-06	3.559e-05	6.9e-07	4.7e-07	3.1e-07	1.2e-07	3.559e-05	0	0	0	0	0	1.868e-06	1.784e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.17183	T	0.341	0.18903	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.891078	0.27880	N	0.695	0.17993	N	0.28	0.59037	T	-0.37	0.13226	N	0.065	0.06720	-1.0186	0.24171	T	0.079	0.31254	T	9	0.0782682	0.12454	T	0.035579	0.56436	D	0.040	0.10527	0.255	0.19533	0.402471007487	0.39861	0.18932522840018065	0.18850	0.200046103044	0.22408	0.337147772312	0.16010	T	0.122473	0.44617	T	-0.231032	0.16513	T	-0.569638	0.15482	T	0.111559447020754	0.13584	T	0.518148	0.16784	T	0.039962262	0.05615	0.0691389	0.14528	0.039962262	0.05615	0.0691389	0.14527	-4.625	0.32484	T	.	.	0.108	0.23325	B	.;.;.	.;.;.	0.226280	0.06082	2.524	0.92478229722998961	0.21909	0.18902	0.20448	N	AEFDGBI	0.291870	0.40289	N	-1.04594611530535	0.07667	0.3569547	-1.00329673726857	0.09712	0.4848083	0.973598738975808	0.29469	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.63	2.71	0.31092	-1.261000	0.02964	-0.106000	0.11884	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8733:0.0:0.1267	7.085	0.24434	18	0.98631	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	803.63	38	chr11	47350595	.	C	A	803.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.805;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.629;SOR=0.643	GT:AD:DP:GQ:PL	0/1:25,33:58:99:814,0,595	6	0	1	0
chr11	47375701	47375701	G	A	exonic	SPI1	.	nonsynonymous SNV	SPI1:NM_001080547:exon2:c.C77T:p.T26M,SPI1:NM_003120:exon2:c.C74T:p.T25M	.	.	.	.	.	.	.	.	.	.	.	3500454	Agammaglobulinemia	Human_Phenotype_Ontology:HP:0004432,Human_Phenotype_Ontology:HP:0008328,MONDO:MONDO:0015977,MeSH:D000361,MedGen:C0001768,OMIM:PS601495,Orphanet:183669	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.153	0.0221202516655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	4.084e-06	4.126e-06	2.698e-06	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	4.968e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.47320	D	0.134	0.60972	T	0.861	0.70673	P	0.346	0.58928	B	0.187873	0.16927	N	0.621565	1	0.81001	D	1.445	0.36358	L	1.46	0.32238	T	-0.42	0.46146	N	0.184	0.31253	-1.0339	0.19205	T	0.106	0.38685	T	10	0.20471036	0.36672	T	0.02212	0.44975	T	0.153	0.40148	0.303	0.27164	0.688485270606	0.68581	0.4352338884887179	0.43440	1.24931227173	0.81763	0.400207817554	0.25098	T	0.385923	0.74720	T	-0.0735883	0.40751	T	-0.343481	0.39951	T	0.89361709356308	0.54487	D	0.924008	0.72946	D	0.049952313	0.08948	0.07656815	0.16970	0.049952313	0.08948	0.07656815	0.16970	-3.895	0.22227	T	.	.	0.101	0.36732	B	.;.;.	.;.;.	4.221136	0.63852	24.6	0.9977648352164048	0.86346	0.63649	0.32155	D	AEFGBHCI	0.728195	0.67629	D	0.122288264709249	0.47505	2.975211	0.0556396835140103	0.42346	2.559634	0.999999976293716	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.49	4.49	0.54177	6.007000	0.70391	11.632000	0.93711	0.676000	0.76740	0.743000	0.29058	1.000000	0.68203	0.730000	0.35099	0.0:0.0:1.0:0.0	13.904	0.63325	31	0.98186	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1429	3305.25	34	chr11	47375701	.	G	A	3305.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.878;DP=400;ExcessHet=0.3476;FS=0.464;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.018;SOR=0.634	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1407,0,1228	5	0	2	0
chr11	55773543	55773543	G	A	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.G106A:p.V36I	.	435	991	89	7	0	103	0.0494005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0094	0.0071885	0.0094	0.0038	0.0055	0.0002	0.0029	0.0124	0.0165	0.0105	0.0093078	1439	154602	rs147031394	0.0096	0.0096	0.0093	0.0099	0.0541	0.0095	0.0094	0.0492	0.0472	0.0040	0.0080	0.0194	2.52e-05	0.0024	0.0541	0.0099	0.0116	0.0108	0.0090	0.0090	0.0092	0.0087	0.0143	0.0086	0.0084	0.0128	0.0122	0.0041	0	0.0143	0.0214	0.0002	0.0018	0.0408	0.0115	0.0133	0.0123	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.859837	0.08903	N	0.894418	1	0.08975	N	-1.24	0.00794	N	.	.	.	.	.	.	.	.	-0.9992	0.30143	T	0.000	0.00075	T	10	0.0063220263	0.00143	T	.	.	.	.	.	.	.	.	.	0.026461992922624716	0.02596	.	.	0.204620480537	0.00603	T	9.57E-4	0.00501	T	-0.821085	0.00005	T	-0.94182	0.00289	T	0.00201569703242085	0.00021	T	0.758424	0.38228	T	0.03243204	0.03267	0.031081052	0.01648	0.03243204	0.03267	0.031081052	0.01647	-1.204	0.01256	T	.	.	0.070	0.03625	B	.	.	-1.707520	0.00192	0.003	0.086283404533563965	0.00071	0.00206	0.01180	N	AEFI	0.014591	0.00239	N	-1.7650134367774	0.00637	0.02745338	-1.79490174311532	0.00776	0.03459685	1.58383268683026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-4.35	0.03402	-2.708000	0.00890	-10.712000	0.00673	-2.110000	0.00390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3984:0.0:0.342:0.2596	4.036	0.09214	154	0.93967	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.036757	0.015152	0.031250	0.052632	0.050000	0.077586	0.021341	0.037879	0.07143	1922.44	34	chr11	55773543	.	G	A	1922.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.25;DP=332;ExcessHet=0;FS=2.228;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-2.161;SOR=0.909	GT:AD:DP:GQ:PL	0/1:59,74:133:99:1933,0,1266	6	0	1	0
chr11	55820039	55820039	T	C	exonic	OR5D18	.	nonsynonymous SNV	OR5D18:NM_001001952:exon1:c.T410C:p.M137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.00325436415592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.004	0.74150	D	0.865	0.47557	P	0.585	0.50320	P	0.033762	0.24856	N	0.291554	0.969603	0.25745	N	3.565	0.93411	H	6.44	0.00536	T	-5.82	0.88289	D	0.518	0.54845	-1.0569	0.12543	T	0.007	0.02399	T	10	0.5042897	0.61727	D	0.003254	0.07177	T	0.122	0.33800	0.45	0.51121	0.482500522706	0.47881	0.32260391643262565	0.32173	0.193186186948	0.21654	0.348354607821	0.17679	T	0.02027	0.15991	T	-0.103464	0.35850	T	-0.386396	0.34974	T	0.860342264175415	0.51082	D	0.757524	0.38090	T	0.7273459	0.79574	0.7458338	0.84977	0.7273459	0.79575	0.7458338	0.84978	-7.712	0.59091	D	.	.	0.317	0.54302	B	.	.	3.230149	0.44050	21.9	0.98382313271362754	0.40863	0.89435	0.49898	D	AEFI	0.119734	0.23355	N	0.268335768420489	0.54550	3.62041	0.112200542033537	0.45171	2.785108	2.3903927741622E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.84	3.7	0.41607	3.238000	0.51051	1.535000	0.27187	0.571000	0.28931	1.000000	0.71638	0.988000	0.31051	0.020000	0.11549	0.0:0.1707:0.0:0.8293	8.107	0.30053	156	0.93906	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4885.24	39	chr11	55820039	.	T	C	4885.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.744;DP=723;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.517;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,105:204:99:0|1:55820035_A_G:2498,0,2402:55820035	5	0	2	0
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	249.94	64	chr11	56412815	.	A	G	249.94	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.554;DP=685;ExcessHet=1.1394;FS=104.012;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.68;ReadPosRankSum=1.43;SOR=9.641	GT:AD:DP:GQ:PL	0/1:89,28:117:99:214,0,1736	3	0	3	1
chr11	60798451	60798451	T	C	exonic	MS4A10	.	nonsynonymous SNV	MS4A10:NM_206893:exon7:c.T659C:p.V220A	.	433	1076	12	1	0	14	0.00646353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.00115533226062	0.0052	0.00259585	0.0047	0.0009	0.0031	0.0023	0.0098	0.0063	0.0077	0.0006	0.0044889	694	154602	rs139578350	0.0061	0.0061	0.0064	0.0058	0.0141	0.0060	0.0059	0.0116	0.0107	0.0011	0.0032	0.0217	0.0012	0.0077	0.0141	0.0064	0.0076	0.0007	0.0044	0.0044	0.0044	0.0043	0.0056	0.0041	0.0040	0.0052	0.0050	0.0015	0	0.0021	0.0239	0.0013	0.0067	0.0171	0.0056	0.0062	0.0017	0.14	0.25664	T	0.046	0.49120	D	0.043	0.21573	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.355	0.33814	L	1.92	0.23082	T	0.68	0.02228	N	0.063	0.03502	-0.9833	0.34234	T	0.019	0.08173	T	9	0.00635761	0.00144	T	0.001155	0.01434	T	0.001	0.00016	.	.	0.104622674875	0.10061	0.09669567333101191	0.09601	0.0373546032595	0.03961	0.22637398541	0.01710	T	6.38E-4	0.00271	T	-0.702927	0.00035	T	-0.77987	0.02457	T	2.63986948993988e-05	0.00000	T	0.233577	0.03193	T	0.025533883	0.01501	0.033226434	0.02182	0.025533883	0.01501	0.033226434	0.02182	-3.56	0.17281	T	.	.	0.092	0.13783	B	.	.	-0.345588	0.02423	0.274	0.6246904516175138	0.06971	0.00860	0.03421	N	AEFDBI	0.026849	0.02088	N	-1.27413465636325	0.03990	0.1792595	-1.35226064130874	0.03779	0.1769936	0.00272546126844268	0.09662	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.59	-1.36	0.08610	-0.932000	0.04072	-0.151000	0.11419	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2351:0.2953:0.0:0.4695	2.163	0.03595	758	0.50837	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.005051	0.012228	0.038012	0.000000	0.008621	0.006098	0.000000	0.1429	3074.24	33	chr11	60798451	.	T	C	3074.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.298;DP=460;ExcessHet=0.3476;FS=6.014;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=0.378;SOR=0.49	GT:AD:DP:GQ:PL	0/1:82,68:150:99:1395,0,1986	5	0	2	0
chr11	60869537	60869537	G	A	exonic	ZP1	.	nonsynonymous SNV	ZP1:NM_207341:exon3:c.G319A:p.D107N	Oocyte maturation defect 1, Autosomal recessive	420	1083	18	1	0	20	0.00914913	0.9251	0.684	.	2816659	not_provided|ZP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.083	0.0084374323153	0.0020	0.00139776	0.0023	0.0002	0.0027	0.0006	0	0.0031	0.0097	0.0007	0.0021345	330	154602	rs145707301	0.0020	0.0020	0.0020	0.0020	0.0163	0.0020	0.0019	0.0136	0.0126	0.0003	0.0031	0.0205	0.0006	5.675e-05	0.0163	0.0017	0.0035	0.0008	0.0020	0.0020	0.0019	0.0020	0.0034	0.0018	0.0017	0.0027	0.0024	0.0003	0	0.0034	0.0202	0.0006	0	0.0136	0.0021	0.0052	0.0008	0.019	0.50132	D	0.126	0.35205	T	0.845	0.46707	P	0.326	0.41929	B	0.527017	0.05235	N	1.262390	0.76458	0.34078	D	0.805	0.20218	L	1.65	0.27650	T	-1.73	0.41046	N	0.078	0.05287	-1.0268	0.21494	T	0.057	0.23904	T	9	0.0063221753	0.00143	T	0.008437	0.22332	T	0.083	0.24192	.	.	0.462461958149	0.45873	0.5216341298894437	0.52086	0.201467826254	0.22544	0.362747877836	0.19786	T	0.06113	0.31572	T	-0.643027	0.00080	T	-0.701055	0.05768	T	0.0258744014069865	0.01388	T	0.59614	0.22137	T	0.07250748	0.16136	0.07542073	0.16601	0.06388268	0.13497	0.06292846	0.12389	-6.651	0.51440	T	0.2812643485133788	0.37661	0.102	0.17953	B	.	.	2.910020	0.38601	20.8	0.99649124727281668	0.77192	0.59398	0.30904	D	AEFBI	0.140577	0.26251	N	-0.0297272071245893	0.40512	2.407167	-0.0626323343636556	0.36950	2.156914	0.999630396214113	0.41205	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	1.754000	0.37998	4.702000	0.44414	-0.289000	0.06313	0.938000	0.32564	1.000000	0.68203	0.313000	0.24807	0.0:0.0:1.0:0.0	12.575	0.55709	658	0.62094	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.010574	0.005051	0.008152	0.023392	0.000000	0.008621	0.021341	0.003788	0.2143	4134.76	34	chr11	60869537	.	G	A	4134.76	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.168;DP=437;ExcessHet=1.1394;FS=4.141;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.64;SOR=0.495	GT:AD:DP:GQ:PL	0/1:51,40:91:99:928,0,1509	4	0	3	0
chr11	61231484	61231484	G	A	exonic	PGA4	.	nonsynonymous SNV	PGA4:NM_001079808:exon9:c.G1120A:p.V374I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0174278136817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455360406	3.08e-05	2.654e-05	3.244e-05	2.932e-05	6.013e-05	1.656e-05	1.234e-05	9.96e-06	4.32e-06	0	0	0	3.636e-05	0	0	2.107e-05	0.0002	6.013e-05	0	7.278e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.168	0.41364	T	0.226	0.27767	T	.	.	.	.	.	.	0.005810	0.32491	U	0.191765	0.839831	0.81001	D	0.555	0.15161	N	-0.02	0.62918	T	-0.4	0.18459	N	0.192	0.24010	-0.8434	0.52419	T	0.155	0.48602	T	10	0.25621343	0.43023	T	0.017428	0.39125	T	0.098	0.28162	0.672	0.81002	0.0551355673512	0.04727	0.09864043258895476	0.09795	.	.	0.686693370342	0.65230	T	0.110388	0.42503	T	-0.0910914	0.37894	T	-0.368623	0.37051	T	0.2106981096736	0.20990	T	0.907909	0.67446	D	0.10550344	0.24945	0.11408311	0.27537	0.10550344	0.24944	0.11408311	0.27536	-5.373	0.40659	T	.	.	0.116	0.32969	B	.;.;.	.;.;.	1.924595	0.24443	16.40	0.9754236108398241	0.34517	0.65123	0.32632	D	AEFI	0.194407	0.32149	N	-0.434241475764929	0.24277	1.309734	-0.398564437725557	0.25040	1.374698	0.474357586720229	0.20733	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.85	2.85	0.32333	0.676000	0.24927	3.187000	0.36685	0.502000	0.22824	0.516000	0.27080	0.999000	0.35428	0.709000	0.34421	0.0:0.0:1.0:0.0	13.379	0.60198	314	0.87270	Peptidase family A1 domain|Peptidase family A1 domain|Pepsin catalytic domain;.;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	183.72	1	chr11	61231484	.	G	A	183.72	.	AC=2;AF=0.2;AN=10;BaseQRankSum=1.28;DP=16;ExcessHet=0.5115;FS=0;MLEAC=3;MLEAF=0.3;MQ=26.79;MQRankSum=0;QD=20.41;ReadPosRankSum=1.28;SOR=2.093	GT:AD:DP:GQ:PL	0/1:1,4:5:17:110,0,17	3	0	2	2
chr11	61313887	61313887	G	T	exonic	DDB1	.	nonsynonymous SNV	DDB1:NM_001923:exon15:c.C1836A:p.F612L	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	0.0210061889715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401595145	2.736e-06	2.736e-06	1.361e-06	4.125e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.25	0.23707	T	0.004	0.12183	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.6	0.28604	T	-3.06	0.63090	D	0.875	0.87265	-0.9285	0.44357	T	0.112	0.40214	T	10	0.6488522	0.69485	D	0.021006	0.43710	T	0.300	0.62068	0.378	0.39319	0.822415824916	0.82073	0.647103457072229	0.64645	1.13977541105	0.78881	0.894135415554	0.95765	D	0.439414	0.78471	T	0.0963433	0.63893	D	0.0821419	0.75720	D	0.769866466522217	0.44431	D	0.997511	0.98983	D	0.7543133	0.81119	0.6545769	0.79779	0.7543133	0.81121	0.6545769	0.79780	-7.616	0.58422	D	.	.	0.984	0.91883	P	.	.	3.414723	0.47383	22.4	0.9965374811587232	0.77442	0.99391	0.95423	D	AEFBI	0.954132	0.97100	D	0.0461406661240527	0.43963	2.679297	0.263102941936341	0.53399	3.508993	0.999999999997092	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	7.879000	0.85694	5.981000	0.52169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.595	0.99442	736	0.53558	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1018.46	36	chr11	61313887	.	G	T	1018.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.1;DP=267;ExcessHet=0;FS=4.407;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.005;SOR=1.255	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1029,0,946	6	0	1	0
chr11	62856339	62856339	T	C	exonic	SLC3A2	.	nonsynonymous SNV	SLC3A2:NM_001012662:exon1:c.T70C:p.S24P,SLC3A2:NM_001012664:exon1:c.T70C:p.S24P,SLC3A2:NM_002394:exon1:c.T70C:p.S24P	.	427	1093	2	0	0	2	0.000914077	.	.	.	3600058	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.206	0.135332493955	.	.	6.615e-05	0	0	0	0	4.512e-05	0	0.0003	5.17e-05	8	154602	rs764761894	3.012e-05	3.078e-05	2.179e-05	3.853e-05	0.0002	2.283e-05	2.033e-05	8.887e-05	7.055e-05	0	0	0	0	3.746e-05	0.0002	2.25e-05	4.972e-05	0.0002	8.536e-05	8.53e-05	0.0001	4.027e-05	0.0002	4.954e-05	3.96e-05	0.0001	7.896e-05	0	0	0	0	0	0	0	0.0002	0	0.0002	0.0	0.91255	D	0.046	0.70582	D	0.002	0.12183	B	0.003	0.12133	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-5.03	0.99184	D	-0.51	0.21215	N	0.178	0.22742	0.580	0.91635	D	0.884	0.96155	D	9	0.059986234	0.07298	T	0.135332	0.81779	D	0.206	0.49396	0.081	0.00694	0.248133497653	0.24425	0.03327368363852103	0.03275	1.5432414244	0.87764	0.442091822624	0.30863	T	0.213909	0.57535	T	-0.197224	0.21206	T	-0.162494	0.58125	T	0.183328085498503	0.19443	T	0.459554	0.14792	T	0.13966392	0.32253	0.12390545	0.29872	0.13966392	0.32253	0.12390545	0.29872	-3.504	0.16487	T	.	.	0.061	0.05756	B	.;.;.;.	.;.;.;.	1.702847	0.21692	15.31	0.97552532575186646	0.34577	0.03524	0.08710	N	ALL	0.203748	0.33024	N	-0.947570840781274	0.09747	0.46268	-1.03139645270786	0.09098	0.4508142	0.99999999999983	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.74	0.069	0.13683	-0.011000	0.12659	.	.	0.609000	0.47794	0.000000	0.06391	0.001000	0.17328	0.004000	0.06068	0.2376:0.2609:0.0:0.5015	2.222	0.03731	804	0.43891	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	433.46	36	chr11	62856339	.	T	C	433.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.349;DP=236;ExcessHet=0;FS=1.043;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=0.581;SOR=0.892	GT:AD:DP:GQ:PL	0/1:38,20:58:99:444,0,988	6	0	1	0
chr11	64652064	64652064	T	C	exonic	NRXN2	.	nonsynonymous SNV	NRXN2:NM_138732:exon11:c.A2387G:p.Q796R,NRXN2:NM_001376265:exon12:c.A2462G:p.Q821R,NRXN2:NM_001376262:exon13:c.A2507G:p.Q836R,NRXN2:NM_001376263:exon13:c.A2486G:p.Q829R,NRXN2:NM_001376266:exon13:c.A2483G:p.Q828R,NRXN2:NM_001376267:exon13:c.A2486G:p.Q829R,NRXN2:NM_015080:exon13:c.A2507G:p.Q836R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.0200233744411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.014	0.62352	D	0.025	0.43152	B	0.05	0.49582	B	0.000702	0.42254	U	0.000000	0.99993	0.51612	D	0.405	0.12330	N	-1.04	0.76561	T	-1.05	0.27463	N	0.438	0.54845	-0.4524	0.70321	T	0.369	0.72910	T	10	0.43879384	0.57967	T	0.020023	0.42524	T	0.404	0.71714	0.613	0.74652	0.551875144547	0.54844	0.6330535729320733	0.63239	0.674568766465	0.59651	0.664756059647	0.62089	T	0.148065	0.48644	T	0.0610377	0.59742	T	-0.1501	0.59234	T	0.92041951417923	0.57958	D	0.858914	0.56300	D	0.177133	0.38663	0.1375287	0.32870	0.177133	0.38662	0.1375287	0.32869	-10.067	0.74312	D	.	.	0.222	0.45990	B	.;.;.;.	.;.;.;.	4.258395	0.64698	24.7	0.99811431021998509	0.89531	0.99676	0.98575	D	AEFGBI	0.936941	0.93399	D	0.239561787308596	0.53125	3.482832	0.344518351277919	0.58177	3.98686	0.999999577464029	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	7.972000	0.87634	7.791000	0.68894	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	12.316	0.54282	428	0.80967	Laminin G domain|Laminin G domain|Laminin G domain;.;Laminin G domain|Laminin G domain|Laminin G domain;Laminin G domain|Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	3541.24	36	chr11	64652064	.	T	C	3541.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.751;DP=579;ExcessHet=0.3476;FS=2.492;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=1.04;SOR=0.889	GT:AD:DP:GQ:PL	0/1:135,96:231:99:1906,0,3281	5	0	2	0
chr11	66367798	66367798	C	G	exonic	SLC29A2	.	nonsynonymous SNV	SLC29A2:NM_001532:exon6:c.G622C:p.V208L,SLC29A2:NM_001300868:exon8:c.G622C:p.V208L,SLC29A2:NM_001300869:exon8:c.G622C:p.V208L	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.0316042497561	7.7e-05	.	0.0002	0.0002	0.0003	0	0	0.0002	0.0011	0.0004	0.0002717	42	154602	rs150459418	0.0002	0.0002	0.0001	0.0002	0.0028	0.0001	0.0001	0.0017	0.0014	0.0004	4.472e-05	0	0	0	0.0028	0.0001	0.0002	0.0006	0.0001	0.0001	0.0001	8.056e-05	0.0004	6.506e-05	5.318e-05	9.05e-05	7.014e-05	0	0	0.0001	0	0	0	0.0034	0.0002	0	0.0004	0.431	0.09514	T	0.633	0.07127	T	0.07	0.23866	B	0.026	0.20792	B	0.628126	0.10713	N	0.831132	0.996028	0.23136	N	0.755	0.19153	N	-0.26	0.67187	T	0.05	0.06369	N	0.35	0.39153	-1.0139	0.25688	T	0.121	0.42165	T	10	0.04368475	0.03244	T	0.031604	0.53648	D	0.036	0.09122	0.385	0.40460	0.136095386433	0.13204	0.14309667819788827	0.14232	0.120596554572	0.13580	0.272003829479	0.06404	T	0.012461	0.41198	T	-0.433622	0.01410	T	-0.496481	0.22713	T	0.0102681643343851	0.00140	T	0.50265	0.15781	T	0.03720598	0.04726	0.039624136	0.04098	0.03720598	0.04726	0.039624136	0.04098	-3.464	0.15931	T	.	.	0.097	0.15832	B	.;.;.;.;.	.;.;.;.;.	-1.243283	0.00489	0.011	0.80550828878662495	0.13256	0.18398	0.20244	N	AEFDGBCI	0.196588	0.32356	N	-1.46746009226412	0.02083	0.09161928	-1.40381359912203	0.03213	0.149446	0.999995358236298	0.74766	0.67177	0.52595	0	0.694456	0.67091	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.26	-2.05	0.06916	-3.782000	0.00413	-6.493000	0.01383	-1.696000	0.00764	0.000000	0.06391	0.000000	0.08366	0.411000	0.27028	0.1368:0.4617:0.0:0.4014	5.066	0.13923	61	0.97388	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002520	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.000000	0.1429	1833.44	35	chr11	66367798	.	C	G	1833.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.668;DP=341;ExcessHet=0.3476;FS=1.149;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=1.36;SOR=0.643	GT:AD:DP:GQ:PL	0/1:41,38:79:99:856,0,968	5	0	2	0
chr11	66485258	66485258	C	G	exonic	DPP3	.	nonsynonymous SNV	DPP3:NM_005700:exon3:c.C356G:p.P119R,DPP3:NM_130443:exon3:c.C356G:p.P119R	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.0362001542279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.78490	D	0.024	0.74150	D	0.465	0.36447	P	0.12	0.32230	B	0.000000	0.84330	D	0.054591	0.999973	0.81001	D	3.16	0.88528	M	0.92	0.44461	T	-5.25	0.89684	D	0.83	0.83576	-0.7875	0.55875	T	0.142	0.46312	T	10	0.81421965	0.80676	D	0.036	0.56837	D	0.449	0.75004	0.676	0.81398	0.611689863146	0.60856	0.3433909211370589	0.34253	.	.	0.682778120041	0.64667	T	0.226647	0.78598	T	0.272497	0.80664	D	0.153647	0.80414	D	0.989387989044189	0.79623	D	0.971803	0.89778	D	0.723377	0.79350	0.520659	0.72306	0.723377	0.79351	0.520659	0.72306	-10.051	0.74216	D	.	.	0.261	0.55299	B	.;.;.;.;.;.	.;.;.;.;.;.	3.884481	0.56480	23.7	0.99668310232686319	0.78394	0.97537	0.75396	D	AEFBI	0.791492	0.72007	D	0.303871375545492	0.56347	3.799286	0.356859373380704	0.58921	4.065944	0.999999999918301	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	5.0	0.66209	6.814000	0.75026	7.567000	0.60617	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:1.0:0.0:0.0	15.821	0.78414	57	0.97492	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2424.65	31	chr11	66485258	.	C	G	2424.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.35;DP=267;ExcessHet=0.3476;FS=0.652;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=18.23;ReadPosRankSum=-0.625;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,37:72:99:0|1:66485258_C_G:1407,0,1349:66485258	5	0	2	0
chr11	66843022	66843022	G	A	exonic	C11orf80	.	nonsynonymous SNV	C11orf80:NM_001302084:exon14:c.G1423A:p.G475S,C11orf80:NM_024650:exon16:c.G1921A:p.G641S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00580028089454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.834	0.02921	T	0.15	0.32891	T	0.032	0.20242	B	0.011	0.15521	B	0.993912	0.08012	N	0.996046	1	0.08975	N	.	.	.	1.44	0.32722	T	-0.72	0.21644	N	0.106	0.11054	-0.9972	0.30701	T	0.036	0.15465	T	10	0.043151706	0.03135	T	0.006	0.15072	T	0.016	0.02506	.	.	0.0716867268079	0.06686	0.06859841137897273	0.06797	0.0639183106118	0.07121	.	.	.	.	.	.	-0.328808	0.06202	T	-0.710086	0.05290	T	0.0384207020404553	0.03407	T	0.532847	0.18126	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.20117	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.394865	0.07661	4.333	0.83363077271724895	0.14685	0.00996	0.03776	N	ALL	0.033034	0.03844	N	-1.4180474420257	0.02480	0.1095864	-1.43578591089294	0.02901	0.1343383	0.999999716037385	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.51	0.362	0.15348	-0.058000	0.11707	-0.313000	0.10024	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2349:0.1932:0.5719:0.0	4.065	0.09334	423	0.81269	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	154.83	28	chr11	66843022	.	G	A	154.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.044;DP=143;ExcessHet=0;FS=7.613;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-0.042;SOR=2.584	GT:AD:DP:GQ:PL	0/1:12,7:19:99:165,0,332	6	0	1	0
chr11	67409501	67409501	G	A	exonic	TBC1D10C	.	nonsynonymous SNV	TBC1D10C:NM_001369495:exon9:c.G785A:p.R262Q,TBC1D10C:NM_001369496:exon9:c.G1088A:p.R363Q,TBC1D10C:NM_001369498:exon9:c.G1112A:p.R371Q,TBC1D10C:NM_001369494:exon10:c.G785A:p.R262Q,TBC1D10C:NM_001369497:exon10:c.G1088A:p.R363Q,TBC1D10C:NM_198517:exon10:c.G1088A:p.R363Q	.	424	1030	61	7	0	75	0.0351288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	0.0013	0.00519169	0.0103	0.0020	0	0	0	0.0107	0.0076	0.0112	0.002044	316	154602	rs149140675	0.0037	0.0036	0.0034	0.0040	0.0475	0.0036	0.0036	0.0427	0.0409	0.0019	0.0048	0.0117	0.0004	0.0040	0.0475	0.0027	0.0075	0.0104	0.0038	0.0038	0.0037	0.0040	0.0110	0.0036	0.0035	0.0086	0.0078	0.0006	0	0.0065	0.0141	0.0006	0.0030	0.0272	0.0042	0.0147	0.0110	0.168	0.23007	T	0.265	0.22694	T	0.002	0.09854	B	0.002	0.06944	B	0.474252	0.12241	N	0.688838	1	0.28947	N	.	.	.	3.27	0.06602	T	-0.5	0.15782	N	0.114	0.10198	-0.9866	0.33445	T	0.008	0.02720	T	10	0.0037960112	0.00071	T	.	.	.	0.016	0.02506	.	.	0.12205267543	0.11705	0.2705067848096566	0.26963	.	.	0.376769483089	0.21798	T	0.024103	0.18278	T	-0.691135	0.00041	T	-0.756149	0.03253	T	0.000306898303968616	0.00002	T	0.721228	0.33447	T	0.039088134	0.05330	0.053378228	0.08979	0.039088134	0.05330	0.053378228	0.08978	-4.807	0.34673	T	.	.	0.067	0.02458	B	.	.	0.956254	0.13325	9.829	0.95951858910698251	0.28275	0.01645	0.05289	N	ALL	0.026810	0.02078	N	-1.26242745027156	0.04137	0.1861875	-1.32657734763861	0.04090	0.1921831	0.999999999997694	0.74766	0.580535	0.33130	0	0.52208	0.09955	0	0.603688	0.36954	0	0.604944	0.38103	0	.	.	4.92	-2.56	0.05903	-0.133000	0.10430	0.285000	0.16810	-0.135000	0.12811	0.002000	0.15269	0.136000	0.23046	0.070000	0.16646	0.5777:0.0:0.2774:0.1449	6.093	0.19226	580	0.69689	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.050184	0.024096	0.080935	0.060510	0.062500	0.052083	0.031008	0.031250	0.1429	729.05	26	chr11	67409501	.	G	A	729.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.782;DP=149;ExcessHet=0.3476;FS=2.449;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.58;ReadPosRankSum=1.42;SOR=0.385	GT:AD:DP:GQ:PL	0/1:13,20:33:99:502,0,279	5	0	2	0
chr11	71485638	71485638	G	A	exonic	NADSYN1	.	nonsynonymous SNV	NADSYN1:NM_018161:exon16:c.G1552A:p.V518M	.	.	.	.	.	.	.	.	.	.	.	4034111	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.216	0.030736740883	.	.	4.722e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs770094071	5.851e-05	6.156e-05	6.056e-05	5.64e-05	0.0001	4.808e-05	4.418e-05	6.75e-05	5.124e-05	0	0.0001	0	0	0	0	6.205e-05	1.721e-05	0.0001	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.001	0.78490	D	0.002	0.83351	D	0.914	0.50529	P	0.737	0.55577	P	0.000256	0.46924	D	0.084489	0.999999	0.58761	D	3.17	0.88688	M	0.97	0.46777	T	-2.99	0.62343	D	0.812	0.81758	-0.2665	0.75908	T	0.306	0.67649	T	10	0.6039945	0.67071	D	0.030737	0.52983	D	0.216	0.50959	0.472	0.54699	0.679952891098	0.67723	0.8844807822872989	0.88416	0.562677150329	0.52729	0.86423689127	0.91734	D	0.210159	0.60989	T	-0.0822536	0.39349	T	-0.0914997	0.64049	T	0.842780888080597	0.49555	D	0.987726	0.95824	D	0.7015593	0.78141	0.48744112	0.70338	0.7015593	0.78143	0.48744112	0.70338	-10.211	0.75164	D	0.5594833717404474	0.62736	0.210	0.60324	B	.;.;.	.;.;.	5.177021	0.86786	29.0	0.99861267400868559	0.94002	0.98624	0.84831	D	AEFBI	0.902739	0.85098	D	0.672807700713385	0.77853	6.754984	0.597330167343286	0.74745	6.190054	0.999914744552966	0.45857	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	3.98	3.98	0.45383	9.007000	0.93130	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	13.937	0.63537	628	0.65206	NAD/GMP synthase;.;NAD/GMP synthase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1831.44	33	chr11	71485638	.	G	A	1831.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.828;DP=268;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.019;SOR=0.741	GT:AD:DP:GQ:PL	0/1:24,42:66:99:1065,0,518	5	0	2	0
chr11	72018230	72018230	G	A	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon12:c.C931T:p.R311C,NUMA1:NM_001286561:exon13:c.C931T:p.R311C	Leukemia, acute promyelocytic, somatic	422	1092	8	0	0	8	0.00364964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.105483975382	0.0003	0.000199681	0.0005	9.61e-05	8.637e-05	0	0	0.0005	0	0.0016	0.0004075	63	154602	rs139359161	0.0003	0.0003	0.0003	0.0004	0.0023	0.0003	0.0003	0.0013	0.0011	0.0002	0.0002	0	0	3.744e-05	0.0023	0.0003	0.0006	0.0010	0.0003	0.0003	0.0002	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0001	0	0	0	0	0.0004	0.0024	0.0002	0.001	0.91255	D	0.007	0.83351	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.999369	0.46798	D	2.67	0.78151	M	1.93	0.60973	T	-3.68	0.82341	D	0.557	0.58713	-0.2672	0.75888	T	0.361	0.72262	T	10	0.043380916	0.03182	T	0.105484	0.78062	D	0.259	0.57090	.	.	0.681978304311	0.67926	0.28157395928230106	0.28070	1.1501580295	0.79175	0.62627863884	0.56617	T	0.349035	0.73358	T	-0.132138	0.31151	T	0.00733731	0.70811	D	0.0744947297370672	0.09267	T	0.976702	0.92496	D	0.57479817	0.71323	0.37705445	0.62814	0.57479817	0.71324	0.37705445	0.62814	-7.051	0.56302	T	.	.	0.379	0.58375	A	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.364748	0.89958	31	0.99891530006459128	0.96513	0.92027	0.54783	D	AEFDGBCI	0.696705	0.65495	D	0.346426547617499	0.58550	4.028038	0.290245974325366	0.54969	3.660528	0.99998566360079	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.48	4.56	0.55644	3.775000	0.55055	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.1357:0.8643:0.0	15.935	0.79482	533	0.73433	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015152	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.07143	1255.44	39	chr11	72018230	.	G	A	1255.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.75;DP=309;ExcessHet=0;FS=0.682;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=-1.084;SOR=0.795	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1266,0,1531	6	0	1	0
chr11	74457538	74457538	G	A	exonic	KCNE3	.	nonsynonymous SNV	KCNE3:NM_005472:exon3:c.C26T:p.T9I	Brugada syndrome 6	0	1518	4	0	0	4	0.00131579	.	.	.	258710	Brugada_syndrome_6|Long_QT_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0013145,MedGen:C2751089,OMIM:613119,Orphanet:130|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	0.0267559069532	0.0002	.	0.0002	9.653e-05	8.642e-05	0	0	0.0003	0	6.057e-05	0.0001617	25	154602	rs139040374	0.0001	0.0001	9.529e-05	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	5.974e-05	6.708e-05	0	0	0	0.0017	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.169e-05	6.725e-05	0.0001	0.0001	2.413e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	0.071	0.52492	T	0.179	0.29540	T	0.041	0.21357	B	0.015	0.17295	B	0.561158	0.11335	N	0.806061	1	0.08975	N	0.55	0.14455	N	-2.09	0.86077	D	-0.66	0.89534	N	0.259	0.32812	-0.7180	0.59561	T	0.339	0.70502	T	10	0.077046394	0.12111	T	0.026756	0.49639	D	0.124	0.34239	.	.	0.842738283887	0.84123	0.8148004908988197	0.81436	0.132197858342	0.14900	0.461262345314	0.33483	T	0.287223	0.66002	T	-0.223537	0.17512	T	-0.258548	0.48970	T	0.00429971718736215	0.00046	T	0.649735	0.35288	T	0.054364745	0.10421	0.069366604	0.14604	0.054364745	0.10421	0.069366604	0.14604	-4.537	0.31369	T	.	.	0.091	0.19919	B	.;.;.;.;.;.	.;.;.;.;.;.	1.684652	0.21469	15.21	0.97107884507457742	0.32396	0.12929	0.17563	N	AEFBI	0.196612	0.32358	N	-0.784892234640227	0.13703	0.6769653	-0.727642280185664	0.16274	0.8601162	0.999886713030585	0.44867	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.94	3.07	0.34476	1.714000	0.37580	3.891000	0.40294	0.676000	0.76740	0.099000	0.22773	0.997000	0.33255	0.844000	0.39860	0.1811:0.0:0.6452:0.1736	4.615	0.11808	460	0.78750	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1655.46	34	chr11	74457538	.	G	A	1655.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=304;ExcessHet=0;FS=5.682;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.221;SOR=0.59	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1666,0,1233	6	0	1	0
chr11	77702384	77702384	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon6:c.A845G:p.D282G	.	441	1056	21	4	0	29	0.0135451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0012	0.00299521	0.0020	9.968e-05	0.0010	0	0.0002	0.0014	0.0022	0.0079	0.0017788	275	154602	rs149599829	0.0013	0.0013	0.0010	0.0016	0.0254	0.0013	0.0012	0.0220	0.0207	0.0007	0.0005	0.0023	7.565e-05	0.0003	0.0254	0.0008	0.0023	0.0078	0.0012	0.0012	0.0011	0.0013	0.0093	0.0010	0.0010	0.0072	0.0064	0.0002	0	0.0012	0.0023	0	0.0004	0.0340	0.0011	0.0038	0.0093	0.074	0.34621	T	0.145	0.33000	T	0.001	0.07471	B	0.001	0.04355	B	0.046415	0.23442	N	0.370958	0.956621	0.46578	D	1.445	0.36358	L	-2.04	0.86415	D	-2.62	0.63090	D	0.156	0.17140	-0.4306	0.71047	T	0.423	0.76783	T	10	0.0058239996	0.00130	T	.	.	.	0.126	0.34673	.	.	0.388737156453	0.38486	0.06564192176107955	0.06503	0.0250102987337	0.02547	0.317823112011	0.13091	T	0.021387	0.33439	T	-0.34498	0.05051	T	-0.26333	0.48490	T	0.0134633381867005	0.00245	T	0.765923	0.39354	T	0.12443495	0.29197	0.14633854	0.34674	0.12443495	0.29197	0.14633854	0.34673	-4.973	0.36633	T	.	.	0.087	0.18497	B	.;.;.;.	.;.;.;.	2.676665	0.34910	19.76	0.98318563966930406	0.40212	0.91193	0.53043	D	AEFBI	0.412134	0.48233	N	-0.267957841629931	0.30392	1.694271	-0.0931855098408182	0.35671	2.066501	0.0647651325479164	0.15339	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.81	3.43	0.38372	1.231000	0.32226	4.158000	0.42192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0687:0.1293:0.802	8.596	0.32876	533	0.73433	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.010101	0.016304	0.046784	0.000000	0.025862	0.003049	0.022727	0.1429	1772.26	36	chr11	77702384	.	T	C	1772.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=310;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=0.913;SOR=0.739	GT:AD:DP:GQ:PL	0/1:34,39:73:99:922,0,858	5	0	2	0
chr11	90086557	90086557	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G608C:p.R203T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.46632	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.06643045	0.09110	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.21323195079400067	0.21239	.	.	0.453380286694	0.32406	T	0.09006	0.38505	T	-0.213133	0.18940	T	-0.543927	0.17914	T	.	.	.	0.268673	0.04486	T	0.058495175	0.11776	0.07780641	0.17369	0.058495175	0.11776	0.07780641	0.17368	-2.736	0.07610	T	.	.	0.089	0.12132	B	.	.	0.095003	0.04978	1.540	0.40076986978530127	0.02806	0.04361	0.09932	N	AEFI	.	.	.	.	.	.	.	.	.	3.05911429590198E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	-2.13	0.06745	0.266000	0.18300	0.115000	0.14837	-3.554000	0.00076	0.039000	0.20931	0.000000	0.08366	0.017000	0.10941	0.2442:0.249:0.5067:0.0	3.692	0.07881	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	46.27	17	chr11	90086557	.	G	C	46.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.244;DP=122;ExcessHet=0;FS=15.529;MLEAC=1;MLEAF=0.083;MQ=35.02;MQRankSum=-1.67;QD=1.65;ReadPosRankSum=1.67;SOR=3.909	GT:AD:DP:GQ:PL	0/1:23,5:29:56:56,0,983	5	0	1	1
chr11	90086558	90086558	G	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G609C:p.R203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0016	0.0005	0.0005	0.0006	0.0005	0.0004	0.0006	0.0005	0.0003	0	0.0002	0	0	0.0006	0.0006	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.31427	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	.	.	.	1.845	0.48678	L	.	.	.	.	.	.	0.177	0.19055	.	.	.	.	.	.	.	0.07897973	0.12652	T	.	.	.	.	.	.	.	0.0666544352282	0.05500	0.20041654349623925	0.19958	.	.	0.434744000435	0.29857	T	0.02618	0.19424	T	-0.0652308	0.42086	T	-0.331476	0.41304	T	.	.	.	0.258474	0.04102	T	0.19470586	0.41231	0.14969048	0.35334	0.19470586	0.41231	0.14969048	0.35333	-1.725	0.02295	T	.	.	0.158	0.34949	B	.	.	0.764181	0.11341	7.959	0.48982207246768944	0.04133	0.11168	0.16454	N	AEFI	.	.	.	.	.	.	.	.	.	1.24664943251294E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	1.319000	0.33260	-1.431000	0.05455	0.311000	0.19140	0.058000	0.21700	0.000000	0.08366	0.034000	0.13613	0.0:0.0:0.6123:0.3877	4.372	0.10686	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	70.56	17	chr11	90086558	.	G	C	70.56	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.599;DP=118;ExcessHet=0;FS=15.529;MLEAC=1;MLEAF=0.1;MQ=35.02;MQRankSum=-1.67;QD=2.43;ReadPosRankSum=1.54;SOR=3.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,6:29:79:0|1:90086558_G_C:79,0,854:90086558	4	0	1	2
chr11	90086559	90086559	T	C	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.T610C:p.S204P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0034	0.0014	0.0010	0.0015	0.0011	0.0011	0.0014	0.0014	0.0007	6.138e-05	0.0003	0.0002	0	0.0015	0.0015	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.30729	T	0.114	0.26387	B	0.055	0.25995	B	.	.	.	.	.	.	.	1.81	0.47622	L	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.09870526	0.17865	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.206982614041448	0.20614	.	.	0.471310138702	0.34860	T	0.051993	0.29036	T	-0.036046	0.46533	T	-0.289554	0.45819	T	.	.	.	0.212979	0.02609	T	0.15890183	0.35723	0.25574014	0.51261	0.15890183	0.35723	0.25574014	0.51260	-4.303	0.28219	T	.	.	0.081	0.08272	B	.	.	1.230443	0.16252	12.42	0.61155269003408275	0.06639	0.12260	0.17159	N	AEFI	.	.	.	.	.	.	.	.	.	2.32955600745505E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0414318	0.01019	1.06	1.06	0.19341	0.059000	0.14199	-0.821000	0.07295	0.305000	0.19019	0.018000	0.19461	0.000000	0.08366	0.048000	0.15020	0.0:0.0:0.0:1.0	6.324	0.20441	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	30.33	17	chr11	90086559	.	T	C	30.33	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-1.015;DP=124;ExcessHet=0;FS=8.913;MLEAC=1;MLEAF=0.1;MQ=35.02;MQRankSum=-1.526;QD=0.98;ReadPosRankSum=1.17;SOR=3.334	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,5:31:38:0|1:90086558_G_C:38,0,999:90086558	4	0	1	2
chr11	96384356	96384356	C	T	exonic	CCDC82	.	nonsynonymous SNV	CCDC82:NM_001318737:exon4:c.G392A:p.S131N,CCDC82:NM_001363594:exon4:c.G392A:p.S131N,CCDC82:NM_024725:exon4:c.G392A:p.S131N,CCDC82:NM_001318736:exon5:c.G392A:p.S131N	.	488	991	37	6	0	49	0.024126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	0.0022	0.00499201	0.0059	0	0.0034	0.0002	0.0003	0.0034	0.0133	0.0263	0.0051293	793	154602	rs143022124	0.0020	0.0020	0.0013	0.0026	0.0179	0.0019	0.0019	0.0172	0.0169	0.0003	0.0013	0.0023	2.521e-05	0.0001	0.0106	0.0009	0.0022	0.0179	0.0029	0.0029	0.0023	0.0036	0.0301	0.0027	0.0026	0.0261	0.0246	0.0004	0	0.0028	0.0023	0	9.432e-05	0.0136	0.0033	0.0024	0.0301	1.0	0.00964	T	0.501	0.11153	T	0.002	0.09854	B	0.005	0.11217	B	0.512704	0.05156	N	1.233760	1	0.08975	N	0.805	0.20218	L	1.81	0.25182	T	-0.26	0.11185	N	0.042	0.01498	-1.0088	0.27292	T	0.043	0.18701	T	10	0.0033774972	0.00059	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.03132535768265218	0.03081	0.0574924983243	0.06368	0.307645320892	0.11552	T	0.001217	0.00709	T	-0.661212	0.00062	T	-0.727489	0.04443	T	0.00389319789664587	0.00041	T	0.332367	0.08817	T	0.18073986	0.39209	0.06620944	0.13531	0.18073986	0.39209	0.06620944	0.13530	-6.996	0.55445	T	.	.	0.078	0.20896	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	0.559908	0.09286	6.066	0.88297889401585861	0.17867	0.06405	0.12408	N	AEFDGBHCI	0.037299	0.05108	N	-1.04098532032772	0.07766	0.3618497	-1.11817198183985	0.07352	0.3573358	0.999549943018494	0.40300	0.722319	0.85440	0	0.724815	0.89359	0	0.608884	0.39905	0	0.735409	0.98432	0	.	.	4.48	-1.45	0.08365	-0.764000	0.04841	-0.229000	0.10694	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2623:0.3623:0.1287:0.2467	0.874	0.01142	.	.	Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;Domain of unknown function DUF4196;.;Domain of unknown function DUF4196	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.017623	0.005051	0.005435	0.002924	0.050000	0.043103	0.024390	0.053030	0.1429	3139.24	120	chr11	96384356	.	C	T	3139.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.36;DP=518;ExcessHet=0.3476;FS=2.96;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.15;ReadPosRankSum=1.32;SOR=0.859	GT:AD:DP:GQ:PL	0/1:149,74:223:99:1653,0,3597	5	0	2	0
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R,DYNC2H1:NM_001377:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	11	1492	18	1	0	20	0.00665779	.	.	.	195492	Asphyxiating_thoracic_dystrophy_3|not_provided|Short_rib-polydactyly_syndrome|not_specified|Jeune_thoracic_dystrophy	MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008065	0.000000	0.008152	0.017647	0.050000	0.008621	0.000000	0.007576	0.1429	1215.04	34	chr11	103236469	.	A	G	1215.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.269;DP=231;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.641;SOR=0.669	GT:AD:DP:GQ:PL	0/1:20,30:50:99:669,0,411	5	0	2	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6014.11	64	chr11	106010659	.	C	T	6014.11	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-5.649;DP=935;ExcessHet=3.1439;FS=266.032;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.64;ReadPosRankSum=3.18;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,74:197:99:0|1:106010659_C_T:1691,0,3493:106010659	2	0	2	3
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6438.8	64	chr11	106010660	.	C	G	6438.8	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.366;DP=932;ExcessHet=3.1439;FS=287.19;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=8.22;ReadPosRankSum=3.22;SOR=9.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,74:197:99:0|1:106010659_C_T:1691,0,3493:106010659	0	0	4	3
chr11	106010663	106010663	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G255C:p.M85I,MSANTD4:NM_001318748:exon2:c.G255C:p.M85I,MSANTD4:NM_001318749:exon2:c.G255C:p.M85I,MSANTD4:NM_001318750:exon2:c.G255C:p.M85I,MSANTD4:NM_032424:exon2:c.G255C:p.M85I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0028274219259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.465	0.47097	T	0.002	0.09854	B	0.004	0.10090	B	0.000001	0.84330	D	0.055431	0.905747	0.36282	D	-0.69	0.01958	N	.	.	.	-0.5	0.23156	N	0.133	0.12913	-0.9883	0.33027	T	0.104	0.38218	T	9	0.11421201	0.21482	T	0.002827	0.05927	T	0.043	0.11576	0.294	0.25720	0.256793551483	0.25290	0.12417172391841125	0.12343	0.345896987908	0.36490	0.592615962029	0.51864	T	0.021651	0.16823	T	-0.0923564	0.37687	T	-0.37044	0.36836	T	0.580747902393341	0.35647	D	0.831217	0.49813	T	0.22625625	0.45303	0.16779238	0.38690	0.22625625	0.45303	0.16779238	0.38689	-3.688	0.19141	T	.	.	0.249	0.48345	B	.;.;.	.;.;.	3.013320	0.40302	21.1	0.9790952007803857	0.36801	0.97322	0.74021	D	AEFGBI	0.400041	0.47508	N	-0.174858718993864	0.34183	1.948093	0.081881515894591	0.43638	2.661421	0.99999720305351	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.803000	0.38500	5.949000	0.51615	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8636:0.1364:0.0	15.669	0.77014	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	4841.7	72	chr11	106010663	.	C	G	4841.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.068;DP=942;ExcessHet=3.1439;FS=240.854;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=5.98;ReadPosRankSum=3.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,55:203:99:0|1:106010659_C_T:778,0,5456:106010659	3	0	1	3
chr11	106010664	106010664	A	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.T254C:p.M85T,MSANTD4:NM_001318748:exon2:c.T254C:p.M85T,MSANTD4:NM_001318749:exon2:c.T254C:p.M85T,MSANTD4:NM_001318750:exon2:c.T254C:p.M85T,MSANTD4:NM_032424:exon2:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00433488665054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.369e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.019	0.69154	D	0.007	0.14184	B	0.034	0.22546	B	0.000001	0.84330	D	0.055431	0.974346	0.39097	D	0	0.06538	N	.	.	.	-0.98	0.25986	N	0.258	0.29197	-0.9720	0.36776	T	0.117	0.41209	T	9	0.18700442	0.34192	T	0.004335	0.10529	T	0.101	0.28911	0.307	0.27806	0.379881503574	0.37595	0.25955710480305316	0.25869	0.399169766946	0.40951	0.666570842266	0.62349	T	0.035133	0.23597	T	0.00410563	0.52221	T	-0.231879	0.51589	T	0.783289670944214	0.45256	D	0.79692	0.44048	T	0.42211768	0.62233	0.30941108	0.56956	0.42211768	0.62233	0.30941108	0.56955	-1.765	0.02407	T	.	.	0.407	0.59964	A	.;.;.	.;.;.	3.510524	0.49159	22.7	0.97899140483582825	0.36731	0.98220	0.80657	D	AEFGBI	0.640959	0.61847	D	-0.0622681486623968	0.39056	2.297149	0.183205801398182	0.48926	3.102239	0.999999972724126	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	6.214000	0.72143	11.169000	0.87908	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.275	0.82465	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5505.39	72	chr11	106010664	.	A	G	5505.39	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-2.258;DP=944;ExcessHet=3.1439;FS=239.419;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=6.77;ReadPosRankSum=3.45;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,55:202:99:0|1:106010659_C_T:781,0,5414:106010659	0	0	4	3
chr11	106010666	106010666	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G252C:p.R84S,MSANTD4:NM_001318748:exon2:c.G252C:p.R84S,MSANTD4:NM_001318749:exon2:c.G252C:p.R84S,MSANTD4:NM_001318750:exon2:c.G252C:p.R84S,MSANTD4:NM_032424:exon2:c.G252C:p.R84S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00263902560473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.126	0.35205	T	0.0	0.02946	B	0.002	0.06944	B	0.002354	0.36727	N	0.299972	0.940449	0.37297	D	0	0.06538	N	.	.	.	-0.92	0.30346	N	0.251	0.28381	-1.0080	0.27541	T	0.094	0.35738	T	9	0.1405603	0.26716	T	0.002639	0.05377	T	0.091	0.26358	0.372	0.38340	0.242244723065	0.23846	0.4756825840453807	0.47487	0.36371238007	0.37996	0.486390650272	0.36939	T	0.038357	0.24810	T	-0.044157	0.45330	T	-0.301205	0.44598	T	0.151699825485391	0.17238	T	0.768023	0.39669	T	0.17611994	0.38507	0.08817525	0.20542	0.17611994	0.38507	0.08817525	0.20542	-1.715	0.02269	T	.	.	0.270	0.51532	B	.;.;.	.;.;.	2.446286	0.31491	18.76	0.97835174456350893	0.36285	0.94199	0.60414	D	AEFGBI	0.377723	0.46139	N	-0.305756252056347	0.28928	1.599811	-0.153352819634721	0.33280	1.902022	0.954896934348277	0.28157	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	2.85	0.32333	0.527000	0.22695	0.199000	0.15831	0.599000	0.40250	0.998000	0.41325	0.973000	0.29867	0.998000	0.85391	0.1462:0.4856:0.1263:0.2419	1.994	0.03243	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	4790.7	66	chr11	106010666	.	C	G	4790.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-3.743;DP=960;ExcessHet=3.1439;FS=231.764;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=5.79;ReadPosRankSum=3.75;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,55:207:99:0|1:106010659_C_T:767,0,5499:106010659	3	0	1	3
chr11	106010667	106010667	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G251C:p.R84T,MSANTD4:NM_001318748:exon2:c.G251C:p.R84T,MSANTD4:NM_001318749:exon2:c.G251C:p.R84T,MSANTD4:NM_001318750:exon2:c.G251C:p.R84T,MSANTD4:NM_032424:exon2:c.G251C:p.R84T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0045302189412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.142	0.33330	T	0.006	0.13644	B	0.028	0.21332	B	0.002354	0.36727	N	0.299972	0.972449	0.38947	D	0.69	0.16971	N	.	.	.	-0.93	0.25118	N	0.472	0.50778	-0.8196	0.53959	T	0.172	0.51421	T	9	0.21586516	0.38151	T	0.00453	0.11157	T	0.261	0.57352	0.4	0.42917	0.368183359018	0.36430	0.4395240752523136	0.43869	0.554340016678	0.52180	0.520652651787	0.41718	T	0.041089	0.25741	T	0.0192097	0.54274	T	-0.210183	0.53679	T	0.5633824467659	0.34983	D	0.816918	0.47330	T	0.12641793	0.29610	0.08971571	0.20995	0.12641793	0.29609	0.08971571	0.20995	-2.359	0.04888	T	.	.	0.161	0.35643	B	.;.;.	.;.;.	3.378534	0.46720	22.3	0.92203589481258563	0.21574	0.98334	0.81734	D	AEFGBI	0.506459	0.53717	D	-0.108043926882725	0.37041	2.14946	0.0663629535781314	0.42871	2.600689	0.997302788968075	0.35478	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	4.01	0.45821	2.982000	0.49027	4.834000	0.45225	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8616:0.0:0.1384	12.064	0.52876	725	0.54935	Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain;Myb/SANT-like DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	4766.7	66	chr11	106010667	.	C	G	4766.7	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-4.542;DP=966;ExcessHet=3.1439;FS=231.764;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=5.73;ReadPosRankSum=4.07;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,54:206:99:0|1:106010659_C_T:760,0,5482:106010659	3	0	1	3
chr11	111882521	111882521	C	T	exonic	C11orf1	.	nonsynonymous SNV	C11orf1:NM_001330371:exon2:c.C199T:p.R67C,C11orf1:NM_022761:exon2:c.C199T:p.R67C	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	.	0.00399361	0.0021	9.626e-05	0.0003	0	0	0	0	0.0152	0.0018111	280	154602	rs201320359	0.0010	0.0010	0.0005	0.0014	0.0155	0.0009	0.0009	0.0148	0.0145	2.987e-05	4.474e-05	0	2.519e-05	0	0.0007	8.094e-06	0.0008	0.0155	0.0006	0.0006	0.0003	0.0008	0.0164	0.0005	0.0004	0.0135	0.0124	2.407e-05	0	6.537e-05	0	0.0002	0	0	2.941e-05	0	0.0164	0.06	0.45756	T	0.047	0.61642	D	0.996	0.90584	D	0.745	0.66095	P	0.460203	0.12401	N	0.757948	0.77061	0.34146	D	2.39	0.68882	M	1.42	0.33189	T	-4.79	0.80595	D	0.135	0.19728	-0.8036	0.54932	T	0.155	0.48568	T	10	0.007807523	0.00177	T	.	.	.	0.147	0.38986	0.515	0.61459	0.488687234069	0.48499	0.28955286910827294	0.28868	0.15491243362	0.17493	.	.	.	0.039347	0.25157	T	-0.448199	0.01157	T	-0.403609	0.32965	T	0.22536727335215	0.21729	T	0.168783	0.01571	T	0.10813217	0.25568	0.12820096	0.30848	0.10813217	0.25568	0.12820096	0.30847	-5.339	0.40327	T	.	.	0.069	0.11510	B	.;.;.;.;.	.;.;.;.;.	2.555685	0.33087	19.24	0.99931167971893431	0.99387	0.20278	0.20981	N	AEFBI	0.219143	0.34406	N	0.283919899427849	0.55332	3.697422	0.218439399026771	0.50870	3.274681	0.999364741650157	0.39301	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.41	4.46	0.53567	0.244000	0.17899	-0.085000	0.12129	-0.962000	0.01975	0.000000	0.06391	0.000000	0.08366	0.617000	0.31819	0.261:0.739:0.0:0.0	12.329	0.54353	87	0.96348	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3269.24	33	chr11	111882521	.	C	T	3269.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=407;ExcessHet=0.3476;FS=0.458;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.749;SOR=0.734	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1418,0,1623	5	0	2	0
chr11	113231236	113231236	G	A	exonic	NCAM1	.	nonsynonymous SNV	NCAM1:NM_001242607:exon10:c.G1130A:p.G377E	.	412	1087	23	0	0	23	0.0104688	.	.	.	2809854	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0052	0.0018	0	0	0	0.0143	0.0152	0.0012	0.0014748	228	154602	rs117219783	0.0071	0.0067	0.0071	0.0071	0.0151	0.0070	0.0069	0.0125	0.0116	0.0011	0.0027	0.0191	0	0.0022	0.0151	0.0079	0.0070	0.0018	0.0052	0.0052	0.0059	0.0045	0.0085	0.0049	0.0048	0.0079	0.0077	0.0014	0	0.0027	0.0228	0	0.0018	0.0170	0.0085	0.0052	0.0010	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.222	0.27554	.	.	.	.	.	.	.	0.0048000515	0.00102	T	.	.	.	.	.	.	.	0.72745045299	0.72503	0.22365881347720465	0.22280	.	.	0.300282180309	0.10442	T	0.249375	0.61932	T	-0.414135	0.01866	T	-0.36083	0.37956	T	.	.	.	0.443356	0.12326	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24532	B	.;.	.;.	1.011621	0.13907	10.47	0.30373334228533333	0.01658	0.07756	0.13755	N	AEFBI	.	.	.	.	.	.	.	.	.	0.90115533656069	0.26094	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0841549	0.19180	4.73	2.71	0.31092	2.415000	0.44289	2.579000	0.33405	0.676000	0.76740	0.042000	0.21073	0.089000	0.22506	0.004000	0.06068	0.1047:0.0:0.6904:0.205	5.143	0.14300	645	0.63593	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012632	0.017045	0.016667	0.016854	0.142857	0.000000	0.015464	0.000000	0.07143	502.53	34	chr11	113231236	.	G	A	502.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.058;DP=199;ExcessHet=0;FS=2.958;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-1.971;SOR=1.057	GT:AD:DP:GQ:PL	0/1:15,20:35:99:513,0,336	6	0	1	0
chr11	124887133	124887133	G	A	exonic	ROBO4	.	nonsynonymous SNV	ROBO4:NM_001301088:exon15:c.C1844T:p.P615L,ROBO4:NM_019055:exon15:c.C2279T:p.P760L	.	397	1095	27	3	0	33	0.0148448	.	.	.	2852051	ROBO4-related_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	.|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.068	.	0.0038	0.0061901	0.0052	0.0004	0.0029	0.0003	0.0011	0.0045	0.0092	0.0169	0.0049999	773	154602	rs146276743	0.0050	0.0050	0.0045	0.0055	0.0171	0.0049	0.0049	0.0164	0.0161	0.0007	0.0022	0.0136	7.557e-05	0.0019	0.0080	0.0044	0.0061	0.0171	0.0039	0.0039	0.0038	0.0039	0.0137	0.0036	0.0035	0.0110	0.0101	0.0008	0	0.0039	0.0141	0.0004	0.0008	0.0034	0.0053	0.0052	0.0137	0.124	0.34621	T	0.056	0.46632	T	0.001	0.07471	B	0.001	0.04355	B	0.857056	0.07093	N	1.099000	0.961538	0.28344	N	1.095	0.27400	L	-0.09	0.64086	T	-0.72	0.38540	N	0.095	0.13055	-0.9629	0.38625	T	0.126	0.43194	T	10	0.0053919554	0.00118	T	.	.	.	0.068	0.19811	.	.	0.726765420178	0.72434	0.4307432230054054	0.42991	0.311846561494	0.33486	0.324699938297	0.14132	T	0.076017	0.35318	T	-0.545079	0.00312	T	-0.541465	0.18154	T	0.00982392410411275	0.00129	T	0.768023	0.39669	T	0.059982676	0.12254	0.053915348	0.09172	0.06661468	0.14349	0.053915348	0.09171	-3.713	0.19510	T	0.2919736196309515	0.38863	0.092	0.13503	B	.;.	.;.	2.522208	0.32594	19.09	0.9924386738709855	0.56630	0.61351	0.31459	D	AEFDBCI	0.176861	0.30409	N	-0.570417262163298	0.19849	1.041997	-0.497944637819832	0.22211	1.205256	0.998964941772589	0.38084	0.722319	0.85440	0	0.59043	0.45803	0	0.59043	0.30614	0	0.735409	0.98432	0	.	.	4.35	3.44	0.38486	1.090000	0.30514	.	.	0.674000	0.70861	0.876000	0.30908	1.000000	0.68203	0.033000	0.13494	0.103:0.0:0.897:0.0	9.307	0.37040	711	0.56613	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.010070	0.000000	0.004076	0.002924	0.000000	0.008621	0.012195	0.030303	0.07143	793.63	36	chr11	124887133	.	G	A	793.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.09;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=0.805;SOR=0.731	GT:AD:DP:GQ:PL	0/1:28,31:59:99:804,0,770	6	0	1	0
chr11	128937755	128937755	-	C	exonic	TP53AIP1	.	frameshift insertion	TP53AIP1:NM_001195194:exon1:c.63dupG:p.Q22Afs*77,TP53AIP1:NM_001195195:exon2:c.63dupG:p.Q22Afs*114,TP53AIP1:NM_001251964:exon2:c.63dupG:p.Q22Afs*32,TP53AIP1:NM_022112:exon2:c.63dupG:p.Q22Afs*81	.	347	1169	6	0	0	6	0.00255973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.00239617	0.0044	0.0008	0.0022	0	0.0024	0.0071	0.0033	0.0005	0.003965	613	154602	rs141395772	0.0049	0.0049	0.0050	0.0047	0.0058	0.0048	0.0048	0.0057	0.0056	0.0009	0.0024	0.0063	2.519e-05	0.0020	0.0033	0.0058	0.0039	0.0005	0.0038	0.0038	0.0040	0.0035	0.0066	0.0035	0.0034	0.0061	0.0059	0.0013	0	0.0012	0.0066	0	0.0013	0.0102	0.0066	0.0028	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003528	0.005102	0.002717	0.005848	0.000000	0.000000	0.009146	0.000000	0.07143	649.42	33	chr11	128937755	.	G	GC	649.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=242;ExcessHet=0;FS=4.104;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.286;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,19:57:99:0|1:128937755_G_GC:660,0,1507:128937755	6	0	1	0
chr11	130428225	130428225	A	0	exonic	ADAMTS8	.	.	.	.	0	70	1	0	155	156	0.0070922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	44.96	9	chr11	130428225	.	A	*	44.96	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.59;DP=106;ExcessHet=1.4958;FS=1.17;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=1.73;SOR=0.474	GT:AD:DP:GQ:PL	0/1:0,5:16:28:203,0,36	3	1	3	0
chr11	134176317	134176317	C	A	exonic	NCAPD3	.	nonsynonymous SNV	NCAPD3:NM_001372069:exon23:c.G2677T:p.D893Y,NCAPD3:NM_001372065:exon24:c.G3091T:p.D1031Y,NCAPD3:NM_001372068:exon24:c.G3091T:p.D1031Y,NCAPD3:NM_015261:exon24:c.G3091T:p.D1031Y,NCAPD3:NM_001372070:exon26:c.G2677T:p.D893Y	.	425	1096	1	0	0	1	0.000455996	.	.	.	3346886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.286	0.0365372726769	.	.	0.0002	0	0.0003	0	0	0.0001	0.0011	0.0011	0.0002005	31	154602	rs151063353	0.0001	0.0001	8.714e-05	0.0002	0.0011	0.0001	0.0001	0.0010	0.0009	0	0.0004	3.826e-05	0	0	0.0010	4.048e-05	0.0002	0.0011	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0	0	0.0007	0.0003	0	0	0	0.0001	0	0.0015	0.011	0.55530	D	0.017	0.60337	D	0.996	0.68779	D	0.942	0.67772	D	0.000656	0.42656	D	0.261800	0.999991	0.58761	D	2.045	0.56016	M	0.88	0.46028	T	-4.43	0.78135	D	0.62	0.63544	-0.7357	0.58673	T	0.239	0.60691	T	10	0.09835589	0.17778	T	0.036537	0.57053	D	0.286	0.60456	.	.	0.619591805948	0.61650	0.5221186637370352	0.52134	0.457583922942	0.45387	0.363830924034	0.19941	T	0.246163	0.61558	T	-0.23824	0.15574	T	-0.155525	0.58752	T	0.143683931342452	0.16588	T	0.840716	0.51656	T	0.23975277	0.46870	0.3424553	0.59971	0.23975277	0.46870	0.3424553	0.59971	-9.727	0.72261	D	.	.	0.190	0.40810	B	.;.	.;.	4.776486	0.77372	26.7	0.99573056453032838	0.72501	0.98611	0.84680	D	AEFDBI	0.475973	0.51959	N	0.658793083973564	0.76940	6.579782	0.67336449346805	0.80361	7.281878	0.999995981124371	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	2.350000	0.43718	7.663000	0.64347	0.599000	0.40250	0.921000	0.31989	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	20.595	0.99442	763	0.50172	Condensin complex subunit 1, C-terminal;Condensin complex subunit 1, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1398.49	33	chr11	134176317	.	C	A	1398.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.272;DP=308;ExcessHet=0;FS=9.515;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=0.144;SOR=1.417	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1409,0,1642	6	0	1	0
chr12	553246	553246	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.G1323C:p.E441D	.	427	1038	55	2	0	59	0.0276347	.	.	.	702400	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0059	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0079	0.0191	0.0065458	1012	154602	rs35419938	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0174	0.0048	0.0047	0.0144	0.0133	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0069	0.0080	0.0174	0.17	0.28646	T	0.445	0.18449	T	0.001	0.22967	B	0.001	0.18140	B	0.054444	0.22724	N	0.513490	0.694362	0.33358	D	1.965	0.53209	M	3.47	0.33412	T	-0.71	0.20145	N	0.113	0.10056	-1.0298	0.20519	T	0.027	0.11485	T	10	0.003033489	0.00050	T	.	.	.	0.057	0.16321	0.061	0.00225	0.26547132957	0.26150	0.3320672336054664	0.33119	0.137519854837	0.15505	0.303518891335	0.10928	T	0.008035	0.10465	T	-0.55733	0.00263	T	-0.559063	0.16465	T	0.00424846492393013	0.00045	T	0.516848	0.17735	T	0.07017605	0.15436	0.050029136	0.07768	0.07017605	0.15436	0.050029136	0.07767	-4.023	0.24147	T	.	.	0.080	0.11220	B	.;.	.;.	0.637848	0.10061	6.812	0.98851990051414873	0.47305	0.06048	0.12017	N	AEFBI	0.067716	0.13326	N	-0.769882621636174	0.14100	0.6996357	-0.690678665284384	0.17193	0.9131054	0.993072403822061	0.33075	0.695654	0.57023	0	0.475579	0.06741	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	5.43	1.79	0.23992	0.007000	0.13074	0.008000	0.13396	0.676000	0.76740	0.008000	0.17931	0.003000	0.18671	0.309000	0.24713	0.2545:0.172:0.5735:0.0	4.755	0.12456	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.020141	0.010101	0.019022	0.035088	0.050000	0.034483	0.018293	0.015152	0.07143	733.83	31	chr12	553246	.	G	C	733.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.171;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.092;SOR=0.652	GT:AD:DP:GQ:PL	0/1:24,28:52:99:744,0,600	6	0	1	0
chr12	553529	553529	C	T	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.C1606T:p.H536Y	.	410	1055	55	2	0	59	0.0272015	.	.	.	702401	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0058	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0078	0.0191	0.0066429	1027	154602	rs151321644	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0172	0.0048	0.0047	0.0142	0.0131	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0068	0.0080	0.0172	0.698	0.07163	T	0.151	0.35205	T	0.002	0.43260	B	0.001	0.32841	B	0.064754	0.02181	N	1.800440	1	0.08975	N	1.355	0.33814	L	3.47	0.32958	T	-1.58	0.42001	N	0.204	0.22614	-1.0050	0.28457	T	0.025	0.10910	T	10	0.0034027994	0.00060	T	.	.	.	0.102	0.29158	.	.	0.33340067248	0.32956	0.23042138291317035	0.22957	0.216515701183	0.24171	0.293155878782	0.09383	T	0.006203	0.17282	T	-0.508331	0.00513	T	-0.488679	0.23528	T	0.0223731037280573	0.00951	T	0.50185	0.15733	T	0.052662954	0.09854	0.04470011	0.05851	0.052662954	0.09853	0.04470011	0.05851	-4.482	0.30652	T	.	.	0.074	0.07650	B	.;.	.;.	2.071965	0.26352	17.09	0.71380471459127814	0.09609	0.41381	0.26644	N	AEFDGBCI	0.100164	0.20147	N	-0.81097235367886	0.13029	0.6390703	-0.773372746637339	0.15149	0.7952879	0.999988630867901	0.51787	0.718356	0.82227	0	0.491552	0.07993	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	5.47	3.57	0.40014	4.056000	0.57161	3.976000	0.40865	0.580000	0.29708	0.771000	0.29368	0.735000	0.26442	0.002000	0.04165	0.2924:0.6219:0.0:0.0858	6.671	0.22260	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019637	0.010101	0.019022	0.035088	0.050000	0.034483	0.015244	0.015152	0.07143	1477.46	34	chr12	553529	.	C	T	1477.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.691;DP=313;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.34;ReadPosRankSum=0.96;SOR=0.67	GT:AD:DP:GQ:PL	0/1:42,61:103:99:1488,0,874	6	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	1125.34	42	chr12	4591261	.	G	C	1125.34	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.171;DP=375;ExcessHet=3.1439;FS=570.035;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0.45;SOR=9.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,27:64:99:.:.:401,0,288:.	2	0	4	1
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	47.47	39	chr12	4591262	.	T	C	47.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.231;DP=340;ExcessHet=0;FS=146.769;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.504;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,19:65:57:.:.:57,0,1004:.	5	0	1	1
chr12	9922079	9922079	G	T	exonic	CLEC2A	.	nonsynonymous SNV	CLEC2A:NM_001130711:exon3:c.C293A:p.T98K,CLEC2A:NM_207375:exon3:c.C293A:p.T98K	.	444	1073	4	1	0	6	0.0027881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0034913386238	0.0011	.	0.0003	0.0004	0	0	0.0006	0.0005	0.0044	0	0.000194	30	154602	rs377012475	0.0012	0.0012	0.0012	0.0012	0.0025	0.0012	0.0011	0.0015	0.0014	0.0002	0.0004	8.002e-05	0	0.0002	0.0025	0.0014	0.0013	0.0002	0.0009	0.0009	0.0010	0.0007	0.0016	0.0007	0.0007	0.0013	0.0012	0.0003	0	0.0005	0	0	9.441e-05	0	0.0016	0.0010	0.0002	0.003	0.68238	D	0.011	0.66756	D	0.997	0.73220	D	0.963	0.74104	D	0.000205	0.47681	U	0.000000	1	0.08975	N	2.775	0.80997	M	2.17	0.19020	T	-3.96	0.76576	D	0.381	0.42247	-1.0409	0.17041	T	0.110	0.39651	T	10	0.05742243	0.06594	T	0.003491	0.07908	T	0.076	0.22200	.	.	0.300784259202	0.29686	0.34742831302101157	0.34656	.	.	0.440617889166	0.30661	T	0.04631	0.27386	T	-0.410078	0.01985	T	-0.386452	0.34967	T	0.0769138022795917	0.09588	T	0.558744	0.19484	T	0.78130627	0.82734	0.4801565	0.69893	0.78130627	0.82735	0.4801565	0.69893	-6.369	0.50877	T	.	.	0.397	0.59392	A	.;.	.;.	2.945829	0.39182	20.9	0.94607814164983239	0.25175	0.02169	0.06362	N	AEFBI	0.033935	0.04114	N	-0.209824253734382	0.32731	1.84917	-0.512593205950235	0.21811	1.181679	1.7562806951683E-6	0.01202	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.7	0.689	0.17197	1.600000	0.36372	0.787000	0.21533	0.526000	0.24426	0.044000	0.21163	0.065000	0.22112	0.006000	0.07323	0.1522:0.2536:0.5942:0.0	3.837	0.08409	887	0.27948	.;C-type lectin-like|C-type lectin-like|C-type lectin-like|Natural killer cell receptor-like, C-type lectin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	480.53	34	chr12	9922079	.	G	T	480.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.749;DP=230;ExcessHet=0;FS=2.398;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=0.995;SOR=1.085	GT:AD:DP:GQ:PL	0/1:34,20:54:99:491,0,874	6	0	1	0
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F,KLRC1:NM_007328:exon3:c.C211T:p.L71F,KLRC1:NM_001304448:exon4:c.C211T:p.L71F,KLRC1:NM_213657:exon4:c.C211T:p.L71F,KLRC1:NM_213658:exon4:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	865	0.32612	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	90.96	31	chr12	10450556	.	G	A	90.96	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.747;DP=258;ExcessHet=0.4139;FS=103.47;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.721;SOR=6.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,9:42:69:0|1:10450556_G_A:69,0,959:10450556	4	0	2	1
chr12	10450558	10450558	T	C	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.A209G:p.K70R,KLRC1:NM_007328:exon3:c.A209G:p.K70R,KLRC1:NM_001304448:exon4:c.A209G:p.K70R,KLRC1:NM_213657:exon4:c.A209G:p.K70R,KLRC1:NM_213658:exon4:c.A209G:p.K70R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00149238531684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.883e-05	9.338e-05	1.808e-05	1.958e-05	2.393e-05	1.29e-05	1.105e-05	1.665e-05	1.414e-05	0	0	0	0	0	0	2.393e-05	1.68e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.27663	T	0.134	0.34241	T	0.108	0.41422	B	0.059	0.48163	B	0.009195	0.30475	N	0.233058	0.994249	0.23558	N	1.13	0.28900	L	3.54	0.04799	T	-2.31	0.51319	N	0.188	0.20528	-1.0177	0.24463	T	0.016	0.06616	T	10	0.18140915	0.33372	T	0.001492	0.02292	T	0.056	0.15993	0.429	0.47680	0.375861065471	0.37200	0.15159410878450708	0.15081	0.0544959346374	0.06029	0.312913030386	0.12348	T	0.359107	0.72556	T	-0.184719	0.23035	T	-0.503112	0.22025	T	0.399707525968552	0.28931	T	0.765423	0.40135	T	0.046867423	0.07918	0.052267835	0.08578	0.046867423	0.07917	0.052267835	0.08578	-5.4	0.44653	T	.	.	0.101	0.17742	B	.;.;.;.;.	.;.;.;.;.	1.051693	0.14328	10.91	0.99408738587616252	0.63169	0.03255	0.08284	N	AEFDGI	0.065626	0.12810	N	-0.610864535726529	0.18617	0.9679876	-0.658873533394709	0.17993	0.9592327	6.6063052665239E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	1.35	0.21078	0.161000	0.16298	-0.103000	0.11918	0.665000	0.62972	0.022000	0.19841	0.002000	0.18203	0.018000	0.11154	0.0:0.2703:0.0:0.7297	4.753	0.12446	865	0.32612	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	59.27	37	chr12	10450558	.	T	C	59.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.178;DP=257;ExcessHet=0;FS=53.478;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.41;ReadPosRankSum=0.966;SOR=4.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,9:42:69:0|1:10450556_G_A:69,0,959:10450556	5	0	1	1
chr12	11062033	11062035	AGA	-	exonic	TAS2R46	.	nonframeshift deletion	TAS2R46:NM_176887:exon1:c.260_262del:p.V87_W88delinsG	.	427	1075	18	2	0	22	0.0101289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0029	0.0052	0.0323	0.0014	0.0092	0.0189	0.0048	0.0071409	1104	154602	rs770425892	0.0095	0.0095	0.0096	0.0094	0.0244	0.0093	0.0093	0.0231	0.0226	0.0033	0.0063	0.0068	0.0244	0.0015	0.0201	0.0099	0.0109	0.0058	0.0085	0.0085	0.0090	0.0079	0.0375	0.0081	0.0079	0.0332	0.0316	0.0030	0.0252	0.0092	0.0084	0.0375	0.0011	0.0408	0.0102	0.0142	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032729	0.070707	0.036685	0.032164	0.050000	0.034483	0.015244	0.007576	0.07143	2404.4	38	chr12	11062032	.	CAGA	C	2404.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.68;DP=367;ExcessHet=0;FS=5.109;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.3;ReadPosRankSum=-0.199;SOR=1.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,63:139:99:0|1:11062032_CAGA_C:2415,0,3002:11062032	6	0	1	0
chr12	11062035	11062035	-	CC	exonic	TAS2R46	.	frameshift insertion	TAS2R46:NM_176887:exon1:c.259_260insGG:p.V87Gfs*5	.	426	1076	18	2	0	22	0.0101196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0029	0.0052	0.0323	0.0014	0.0092	0.0189	0.0048	0.0071409	1104	154602	rs774022236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0085	0.0090	0.0079	0.0375	0.0081	0.0079	0.0332	0.0315	0.0030	0.0252	0.0092	0.0084	0.0375	0.0011	0.0408	0.0102	0.0142	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	2364.4	38	chr12	11062035	.	A	ACC	2364.4	.	AC=1;AF=0.071;AN=14;DP=361;ExcessHet=0;FS=4.084;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=0.173;SOR=1.074	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,62:138:99:0|1:11062032_CAGA_C:2375,0,3005:11062032	6	0	1	0
chr12	11308825	11308825	G	T	exonic	PRB4	.	nonsynonymous SNV	PRB4:NM_001261399:exon3:c.C158A:p.P53H,PRB4:NM_002723:exon3:c.C158A:p.P53H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000724737728306	.	.	8.342e-06	0	0	0	0	0	0	6.071e-05	6.5e-06	1	154602	rs145538331	0.0003	0.0091	0.0003	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0005	0.0002	0.0007	0.0008	0.0004	0	0.0002	0.0005	3.579e-05	0.0008	0.0070	0.0008	0.0007	0.0013	0.0006	0.0006	0.0005	0.0005	0.0008	0	0.0009	0.0009	0.0007	0.0008	0	0.0006	0.0028	0.0013	0.086	0.32610	T	0.079	0.42086	T	0.62	0.39915	P	0.192	0.36449	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	-1.82	0.42763	N	0.189	0.24385	-1.0172	0.24625	T	0.013	0.04985	T	8	0.094213486	0.16733	T	7.25E-4	0.00472	T	0.038	0.09825	0.307	0.27806	0.0297737177859	0.01360	0.14867610920793883	0.14789	5.39720892046E-4	0.00050	.	.	.	0.009784	0.08886	T	-0.461542	0.00962	T	-0.717981	0.04894	T	0.0491737318569793	0.05354	T	0.30297	0.06003	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.05103	B	.;.;.;.	.;.;.;.	-1.486722	0.00303	0.005	0.13684848466116051	0.00278	0.00057	0.00426	N	AEFBI	0.022063	0.01057	N	-1.78961807863172	0.00571	0.02459707	-2.02858908995553	0.00266	0.01174935	0.00233645441564733	0.09333	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	0.618	-1.24	0.08948	-3.359000	0.00553	-12.909000	0.00492	-10.517000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	128.24	115	chr12	11308825	.	G	T	128.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.586;DP=1187;ExcessHet=0.3476;FS=1.072;MLEAC=2;MLEAF=0.143;MQ=58.51;MQRankSum=-13.09;QD=0.22;ReadPosRankSum=-5.77;SOR=0.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,21:278:55:0|1:11308772_G_T:55,0,10445:11308772	5	0	2	0
chr12	18320998	18320998	C	G	exonic	PIK3C2G	.	nonsynonymous SNV	PIK3C2G:NM_001288772:exon7:c.C1174G:p.L392V,PIK3C2G:NM_001288774:exon7:c.C508G:p.L170V,PIK3C2G:NM_004570:exon7:c.C1174G:p.L392V	.	451	1049	18	4	0	26	0.0122411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	.	0.0004	0.00339457	0.0021	0.0003	0.0014	0	0	0.0011	0.0067	0.0090	0.0014359	222	154602	rs189270710	0.0009	0.0010	0.0006	0.0012	0.0111	0.0009	0.0009	0.0087	0.0078	0.0002	0.0007	7.805e-05	2.543e-05	0	0.0111	0.0005	0.0014	0.0072	0.0007	0.0007	0.0007	0.0008	0.0070	0.0006	0.0006	0.0052	0.0045	7.215e-05	0	0.0008	0	0	0	0.0204	0.0008	0	0.0070	0.016	0.51853	D	0.0	0.92824	D	0.995	0.67487	D	0.91	0.64641	D	0.000071	0.52346	D	0.000000	0.916993	0.36567	D	2.765	0.80766	M	1.16	0.64818	T	-1.62	0.38924	N	0.544	0.61933	-0.5150	0.68102	T	0.269	0.64098	T	10	0.0085992515	0.00195	T	.	.	.	0.201	0.48592	.	.	0.599340405529	0.59615	0.05888512238855398	0.05829	0.0159091030444	0.01523	0.499150782824	0.38709	T	0.039857	0.31336	T	-0.358409	0.04220	T	-0.28388	0.46406	T	0.0678820302665808	0.08351	T	0.782222	0.43226	T	0.1457468	0.33396	0.15658617	0.36654	0.1457468	0.33396	0.15658617	0.36653	-3.756	0.20149	T	.	.	0.175	0.38390	B	.;.;.;.	.;.;.;.	3.674660	0.52277	23.2	0.99835386737957632	0.91628	0.85627	0.44780	D	AEFBI	0.350359	0.44383	N	0.54592368012716	0.69835	5.413695	0.526110385088951	0.69752	5.40554	0.977723633779124	0.29849	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.57	4.57	0.55860	2.405000	0.44201	2.756000	0.34570	-0.190000	0.09434	1.000000	0.71638	0.994000	0.32194	0.996000	0.76049	0.0:1.0:0.0:0.0	13.171	0.59021	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.007049	0.000000	0.006793	0.005848	0.000000	0.000000	0.018293	0.015152	0.07143	460.63	38	chr12	18320998	.	C	G	460.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.37;DP=228;ExcessHet=0;FS=1.046;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=-1.33;SOR=0.544	GT:AD:DP:GQ:PL	0/1:35,20:55:99:471,0,844	6	0	1	0
chr12	31094806	31094806	A	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon14:c.A1466T:p.N489I,DDX11:NM_001257145:exon14:c.A1388T:p.N463I,DDX11:NM_004399:exon14:c.A1466T:p.N489I,DDX11:NM_030653:exon14:c.A1466T:p.N489I,DDX11:NM_152438:exon14:c.A1466T:p.N489I	Warsaw breakage syndrome, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	1330213	Warsaw_breakage_syndrome	MONDO:MONDO:0013252,MedGen:C3150658,OMIM:613398,Orphanet:280558	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.379	0.0336406763837	.	.	0.0006	0	9.356e-05	0	0	0	0	0.0042	3.84e-05	1	26028	rs776193334	0.0002	0.0008	0.0001	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	4.473e-05	0	0	0	0	1.8e-06	0.0004	0.0026	3.284e-05	0.0001	1.285e-05	5.375e-05	0.0011	1.26e-05	7.98e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0011	0.002	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	.	.	.	0.61	0.53516	T	-6.34	0.92042	D	0.908	0.90932	-0.4600	0.70067	T	0.308	0.67858	T	10	0.23459291	0.40502	T	0.033641	0.55122	D	0.379	0.69696	0.533	0.64148	0.660534388617	0.65769	0.6708126339766729	0.67019	.	.	0.595161437988	0.52222	T	0.435352	0.78212	T	0.153624	0.69607	D	-0.0171069	0.69218	D	0.872565865516663	0.52244	D	0.952005	0.81587	D	0.7486451	0.80790	0.6397418	0.78956	0.7486451	0.80791	0.6397418	0.78957	-16.492	0.98439	D	.	.	0.740	0.76085	P	.;.;.;.	.;.;.;.	5.158755	0.86435	28.9	0.99227692799103306	0.56120	0.98117	0.79742	D	AEFBI	0.857164	0.77450	D	0.659698480493268	0.76997	6.590828	0.538147846011196	0.70579	5.525704	0.391484008741092	0.20051	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.23	3.23	0.36150	7.982000	0.87742	10.853000	0.83948	0.621000	0.51759	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	1.0:0.0:0.0:0.0	9.585	0.38677	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	667.44	66	chr12	31094806	.	A	T	667.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.289;DP=505;ExcessHet=0;FS=0.606;MLEAC=1;MLEAF=0.071;MQ=54.62;MQRankSum=-3.186;QD=3.37;ReadPosRankSum=3.08;SOR=0.75	GT:AD:DP:GQ:PL	0/1:150,48:198:99:678,0,3871	6	0	1	0
chr12	31103620	31103620	C	T	exonic	DDX11	.	nonsynonymous SNV	DDX11:NM_001257144:exon26:c.C2575T:p.P859S,DDX11:NM_152438:exon26:c.C2575T:p.P859S	Warsaw breakage syndrome, Autosomal recessive	1	1513	7	1	0	9	0.0029654	.	.	.	753333	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.025	0.023974955694	.	0.000599042	0.0002	0	0	0	0	0	0	0.0018	0.0002135	33	154602	rs573376748	9.577e-05	9.713e-05	5.173e-05	0.0001	0.0014	8.243e-05	7.783e-05	0.0012	0.0012	0	0	0	0	0	0.0007	5.396e-06	8.28e-05	0.0014	5.254e-05	5.249e-05	1.285e-05	9.404e-05	0.0017	2.556e-05	1.829e-05	0.0008	0.0006	0	0	0	0	0	0	0	0	0	0.0017	0.0	0.91255	D	0.341	0.17964	T	0.259	0.31472	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	-0.5	0.70480	T	1.07	0.01280	N	0.189	0.20660	-0.9974	0.30646	T	0.143	0.46532	T	8	0.010868996	0.00240	T	0.023975	0.46960	T	0.086	0.25016	0.283	0.23961	0.717923940725	0.71544	0.23206158197292268	0.23121	.	.	0.464127600193	0.33876	T	0.033537	0.22955	T	-0.317387	0.07114	T	-0.253308	0.49490	T	0.12643375306976	0.15049	T	0.471653	0.14010	T	0.08596502	0.19964	0.10656963	0.25640	0.08596502	0.19963	0.10656963	0.25639	-4.181	0.26476	T	.	.	0.074	0.04975	B	.	.	0.496982	0.08661	5.432	0.99828739275634693	0.91112	0.31308	0.24304	N	AEFDBHCI	0.067927	0.13377	N	-0.342966262879636	0.27532	1.511257	-0.428045466727937	0.24178	1.322567	0.997433507395167	0.35614	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.563494	0.21769	0	.	.	3.14	2.24	0.27264	-0.387000	0.07419	-0.286000	0.10231	0.418000	0.20770	0.395000	0.26129	0.004000	0.18990	0.776000	0.36750	0.0:0.6303:0.2345:0.1352	4.386	0.10746	976	0.04745	ATP-dependent helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000529	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1622.63	44	chr12	31103620	.	C	T	1622.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.068;DP=367;ExcessHet=0;FS=4.637;MLEAC=1;MLEAF=0.071;MQ=56.56;MQRankSum=-7.38;QD=13.52;ReadPosRankSum=-2.748;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,46:120:99:0|1:31103612_G_A:1633,0,2960:31103612	6	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	398.42	26	chr12	39764776	.	G	C	398.42	.	AC=5;AF=0.417;AN=12;BaseQRankSum=0.419;DP=205;ExcessHet=6.1542;FS=279.101;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.33;ReadPosRankSum=0.832;SOR=8.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,23:59:99:.:.:108,0,342:.	1	0	5	1
chr12	40483220	40483220	T	A	exonic	MUC19	.	unknown	UNKNOWN	.	543	941	36	2	0	40	0.0208117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0603377376754	.	0.00439297	.	.	.	.	.	.	.	.	0.0026894	70	26028	rs144440388	0.0013	0.0008	0.0013	0.0014	0.0111	0.0013	0.0013	0.0098	0.0093	0.0003	0.0020	0.0002	0.0066	0	0.0105	0.0011	0.0033	0.0111	0.0021	0.0021	0.0016	0.0025	0.0142	0.0019	0.0018	0.0115	0.0105	0.0003	0	0.0030	0	0.0097	0	0.0068	0.0018	0.0033	0.0142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	8522.44	674	chr12	40483220	.	T	A	8522.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.523;DP=3922;ExcessHet=0;FS=0.518;MLEAC=1;MLEAF=0.071;MQ=59.91;MQRankSum=0.63;QD=12.99;ReadPosRankSum=1.45;SOR=0.64	GT:AD:DP:GQ:PL	0/1:318,338:656:99:8533,0,8335	6	0	1	0
chr12	40484740	40484740	G	C	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117001407581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.738e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	10766.4	1027	chr12	40484740	.	G	C	10766.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.604;DP=6709;ExcessHet=0;FS=0.52;MLEAC=1;MLEAF=0.071;MQ=59.9;MQRankSum=-0.326;QD=10.45;ReadPosRankSum=4.32;SOR=0.714	GT:AD:DP:GQ:PL	0/1:572,458:1030:99:10777,0,12355	6	0	1	0
chr12	40486784	40486784	A	-	exonic	MUC19	.	unknown	UNKNOWN	.	552	968	2	0	0	2	0.00103199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	9819.4	532	chr12	40486783	.	GA	G	9819.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.196;DP=4699;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.41;MQRankSum=-1.622;QD=8.73;ReadPosRankSum=-0.357;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:754,371:1125:99:0|1:40486783_GA_G:9830,0,25983:40486783	6	0	1	0
chr12	40486784	40486784	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	87968.7	542	chr12	40486784	.	A	*	87968.7	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=4736;ExcessHet=0.3696;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.47;MQRankSum=-2.376;QD=28.43;ReadPosRankSum=-0.283;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,371:1121:99:1|0:40486783_GA_G:47188,28141,25883:40486783	6	0	1	0
chr12	40486785	40486785	T	G	exonic	MUC19	.	unknown	UNKNOWN	.	647	235	382	257	1	897	0.65593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.637e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	109111.0	542	chr12	40486785	.	T	G	109111.0	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.52;DP=4732;ExcessHet=0.3696;FS=0;MLEAC=1;MLEAF=0.071;MQ=59.46;MQRankSum=-2.376;QD=28.95;ReadPosRankSum=-0.394;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,371:1116:99:.:.:47049,28001,25743:.	6	0	1	0
chr12	40488250	40488250	A	T	exonic	MUC19	.	unknown	UNKNOWN	.	590	918	12	0	2	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1458586940	2.996e-05	0.0004	2.53e-05	3.537e-05	0.0125	1.96e-05	1.674e-05	0.0068	0.0052	0	0.0125	0	0.0009	0	0	5.951e-06	0.0001	0.0002	0.0039	0.0090	0.0031	0.0047	0.0330	0.0036	0.0035	0.0303	0.0292	0.0009	0	0.0330	0	0.0033	0.0043	0	0.0002	0.0051	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1143.21	299	chr12	40488250	.	A	T	1143.21	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.58;DP=3352;ExcessHet=0;FS=3.493;MLEAC=1;MLEAF=0.071;MQ=58.1;MQRankSum=-6.933;QD=1.26;ReadPosRankSum=-5.352;SOR=1.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:822,86:908:99:0|1:40488222_A_G:1137,0,34257:40488222	6	0	1	0
chr12	40490286	40490286	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	595	902	19	0	6	25	0.0104224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186244381	1.359e-06	0.0003	2.527e-06	0	6.872e-05	0	0	.	.	6.872e-05	0	0	0	0	0	0	0	0	0.0003	0.0084	0.0002	0.0003	0.0018	0.0002	0.0002	0.0011	0.0009	0.0001	0.0016	0.0018	0	0.0009	0.0001	0	4.372e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	104.44	507	chr12	40490286	.	C	T	104.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.867;DP=4265;ExcessHet=0;FS=2.439;MLEAC=1;MLEAF=0.071;MQ=51.98;MQRankSum=-11.39;QD=0.13;ReadPosRankSum=-0.04;SOR=1.288	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:754,57:811:99:1|0:40490259_C_T:115,0,31318:40490259	6	0	1	0
chr12	40490287	40490287	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	589	899	19	0	15	34	0.0104568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314271449	1.355e-06	0.0003	2.518e-06	0	6.852e-05	0	0	.	.	6.852e-05	0	0	0	0	0	0	0	0	0.0002	0.0076	0.0002	0.0003	0.0014	0.0002	0.0001	0.0009	0.0007	9.404e-05	0.0015	0.0014	0	0.0006	0.0001	0	5.854e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	122.44	507	chr12	40490287	.	A	G	122.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.155;DP=4258;ExcessHet=0;FS=2.439;MLEAC=1;MLEAF=0.071;MQ=51.94;MQRankSum=-11.35;QD=0.15;ReadPosRankSum=0.278;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:748,57:805:99:1|0:40490259_C_T:133,0,31165:40490259	6	0	1	0
chr12	40490978	40490978	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	551	935	33	1	2	37	0.0183727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs144654701	0.0014	0.0008	0.0014	0.0014	0.0116	0.0013	0.0013	0.0103	0.0097	0.0003	0.0021	0.0002	0.0067	0	0.0107	0.0011	0.0034	0.0116	0.0020	0.0020	0.0016	0.0025	0.0139	0.0018	0.0018	0.0112	0.0102	0.0003	0	0.0030	0	0.0094	0	0.0068	0.0018	0.0033	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	7939.23	421	chr12	40490978	.	G	A	7939.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.61;DP=3413;ExcessHet=0;FS=1.741;MLEAC=1;MLEAF=0.083;MQ=59.58;MQRankSum=-1.844;QD=12.89;ReadPosRankSum=-0.765;SOR=0.822	GT:AD:DP:GQ:PL	0/1:309,307:616:99:7949,0,8051	5	0	1	1
chr12	40511000	40511000	A	G	exonic	MUC19	.	unknown	UNKNOWN	.	543	846	132	1	0	134	0.0733844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334958236	0	2.394e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	3.398e-05	0.0059	1.325e-05	5.579e-05	0.0002	1.294e-05	8.22e-06	.	.	2.479e-05	0	6.864e-05	0	0	9.885e-05	0	0	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	164.49	36	chr12	40511000	.	A	G	164.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=4.06;DP=473;ExcessHet=0;FS=13.671;MLEAC=1;MLEAF=0.071;MQ=58.88;MQRankSum=-9.566;QD=0.78;ReadPosRankSum=-1.74;SOR=2.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,18:211:99:0|1:40510979_A_G:175,0,8026:40510979	6	0	1	0
chr12	40545398	40545398	G	A	exonic	MUC19	.	unknown	UNKNOWN	.	432	1073	17	0	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	.	.	0.00159744	0.0025	0.0022	0	0	0.0006	0.0047	0	0.0017	0.000815	126	154602	rs182952935	0.0030	0.0024	0.0030	0.0031	0.0162	0.0029	0.0029	0.0131	0.0120	0.0010	0.0024	0.0087	0	0.0003	0.0162	0.0031	0.0030	0.0026	0.0025	0.0025	0.0027	0.0024	0.0037	0.0023	0.0022	0.0034	0.0032	0.0008	0.0044	0.0022	0.0075	0	0.0003	0.0204	0.0037	0.0038	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	527.45	37	chr12	40545398	.	G	A	527.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.182;DP=255;ExcessHet=0;FS=0.949;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=0.291;SOR=0.564	GT:AD:DP:GQ:PL	0/1:35,28:63:99:538,0,789	6	0	1	0
chr12	48774004	48774004	T	C	exonic	ADCY6	.	nonsynonymous SNV	ADCY6:NM_015270:exon15:c.A2378G:p.N793S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0400806656721	7.7e-05	.	9.168e-06	0	0	0	0	1.648e-05	0	0	6.5e-06	1	154602	rs146695818	4.106e-06	4.104e-06	5.446e-06	2.751e-06	6.718e-05	1.48e-06	9.7e-07	1.782e-05	8.94e-06	2.987e-05	6.718e-05	0	0	0	0	0	1.656e-05	1.161e-05	1.315e-05	1.313e-05	2.57e-05	0	2.414e-05	2.18e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	0	0.0005	0	0.079	0.33753	T	0.344	0.17804	T	0.038	0.21002	B	0.02	0.19048	B	0.002449	0.36537	N	0.256470	0.999964	0.81001	D	1.33	0.33268	L	-1.23	0.78860	T	-1.93	0.44852	N	0.485	0.51940	-0.6313	0.63515	T	0.297	0.66858	T	10	0.260285	0.43476	T	0.040081	0.59173	D	0.199	0.48268	.	.	0.680538779009	0.67782	0.5303726224343427	0.52961	0.331314275893	0.35210	0.631214499474	0.57317	T	0.455114	0.79439	T	-0.146092	0.28925	T	-0.27178	0.47639	T	0.316697031259537	0.25688	T	0.838916	0.51225	T	0.13638039	0.31617	0.09725459	0.23141	0.13638039	0.31617	0.09725459	0.23140	-5.111	0.38023	T	.	.	0.193	0.41249	B	.	.	3.347404	0.46151	22.3	0.9928284302533299	0.57973	0.95515	0.65028	D	AEFBI	0.520138	0.54512	D	-0.0989992752684939	0.37435	2.177963	0.0918661846999061	0.44137	2.701448	0.999999860191087	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	5.833000	0.69056	7.771000	0.68472	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.476	0.67128	495	0.76383	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	837.27	42	chr12	48774004	.	T	C	837.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.462;DP=264;ExcessHet=0;FS=0.822;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.11;SOR=0.575	GT:AD:DP:GQ:PL	0/1:44,39:83:99:847,0,1113	5	0	1	1
chr12	49742205	49742205	A	T	exonic	TMBIM6	.	nonsynonymous SNV	TMBIM6:NM_001098576:exon1:c.A69T:p.R23S	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00254712961696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0003	2.3e-07	9e-08	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	.	.	.	0.87	0.46412	T	-0.07	0.08033	N	0.191	0.20925	-1.0398	0.17374	T	0.042	0.18243	T	9	0.07402864	0.11264	T	0.002547	0.05121	T	0.011	0.01250	0.263	0.20788	0.167679373172	0.16340	0.25579440374354007	0.25493	0.568260903419	0.53050	0.440961688757	0.30708	T	.	.	.	-0.1709	0.25097	T	-0.483262	0.24099	T	0.220584862996978	0.21493	T	0.344066	0.07525	T	.	.	.	.	.	.	.	.	-3.655	0.18656	T	.	.	0.151	0.33412	B	.;.	.;.	0.444154	0.08144	4.874	0.96861924852030357	0.31384	0.04238	0.09761	N	ALL	0.198087	0.32497	N	-1.14654743093244	0.05836	0.2671362	-1.17603169829072	0.06312	0.3034396	0.999999999999872	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	5.04	-2.25	0.06498	0.337000	0.19582	0.298000	0.16948	0.665000	0.62972	0.002000	0.15269	0.450000	0.24948	0.086000	0.17578	0.3186:0.2096:0.3237:0.1482	1.148	0.01670	347	0.85595	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	883.44	33	chr12	49742205	.	A	T	883.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.201;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=0.172;SOR=0.665	GT:AD:DP:GQ:PL	0/1:43,36:79:99:894,0,1058	6	0	1	0
chr12	52385056	52385056	G	C	exonic	KRT84	.	nonsynonymous SNV	KRT84:NM_033045:exon1:c.C530G:p.A177G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.891	0.176906474143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.789e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000138	0.49741	D	0.000000	0.999991	0.58761	D	4.095	0.97289	H	-3.65	0.95179	D	-3.64	0.69835	D	0.853	0.84922	1.078	0.98810	D	0.938	0.97975	D	10	0.9246705	0.91817	D	0.176906	0.85252	D	0.891	0.96873	0.771	0.89767	0.975966307224	0.97570	0.5387444611866561	0.53799	0.219873754163	0.24531	0.673947811127	0.63400	T	0.575528	0.86016	D	0.322749	0.84668	D	0.22583	0.84466	D	0.999502182006836	0.97675	D	0.952205	0.81731	D	0.8957342	0.91004	0.85471135	0.91821	0.8957342	0.91006	0.85471135	0.91822	-10.131	0.74692	D	.	.	0.640	0.70527	P	.	.	5.271504	0.88515	29.6	0.99726064184576435	0.82406	0.98882	0.88116	D	AEFGBI	0.935306	0.92997	D	0.970799222495421	0.94775	13.02873	0.876790821287214	0.94479	12.79379	0.999999999999533	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.140000	0.89528	.	.	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.936	0.92560	633	0.64743	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	142.62	29	chr12	52385056	.	G	C	142.62	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.676;DP=453;ExcessHet=1.1394;FS=420.593;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.57;ReadPosRankSum=1.57;SOR=8.439	GT:AD:DP:GQ:PL	0/1:80,16:103:10:10,0,2725	3	0	3	1
chr12	52771086	52771086	C	T	exonic	KRT76	.	nonsynonymous SNV	KRT76:NM_015848:exon7:c.G1397A:p.R466H	.	1	1516	5	0	0	5	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.0261409563864	0.0002	0.000998403	0.0005	0.0009	8.637e-05	0.0001	0	2.997e-05	0.0011	0.0031	0.0004851	75	154602	rs143394911	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0026	0.0024	0.0011	0.0002	0	5.038e-05	5.616e-05	0.0005	5.126e-05	0.0003	0.0029	0.0004	0.0004	0.0003	0.0004	0.0035	0.0003	0.0003	0.0022	0.0018	0.0007	0	6.536e-05	0	0	0.0004	0	4.411e-05	0.0005	0.0035	0.016	0.51853	D	0.064	0.44905	T	0.969	0.56768	D	0.745	0.55870	P	0.034564	0.24753	N	0.188156	0.999981	0.18198	N	2.645	0.77386	M	-2.57	0.89692	D	-4.24	0.76015	D	0.25	0.28264	-0.1048	0.79989	T	0.619	0.86547	D	10	0.008607924	0.00195	T	0.026141	0.49069	D	0.325	0.64725	.	.	0.819514186291	0.81781	0.3212932169144769	0.32042	0.126043349698	0.14207	0.224110066891	0.01561	T	0.360505	0.72674	T	-0.354562	0.04447	T	-0.285445	0.46243	T	0.0827314012698687	0.10333	T	0.618838	0.23746	T	0.1618024	0.36213	0.15831175	0.36976	0.1618024	0.36213	0.15831175	0.36976	-8.03	0.61275	D	.	.	0.105	0.19316	B	.	.	2.308402	0.29544	18.16	0.99868505284495779	0.94637	0.08555	0.14468	N	AEFBI	0.095445	0.19284	N	-0.227016644388869	0.32029	1.802017	-0.390925844668155	0.25266	1.388457	1.34292407679999E-5	0.02871	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.13	-0.635	0.10934	0.231000	0.17651	.	.	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.996000	0.76049	0.0:0.4381:0.0:0.5619	10.297	0.42813	578	0.69858	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.07143	2373.44	34	chr12	52771086	.	C	T	2373.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.24;DP=440;ExcessHet=0;FS=2.862;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.83;SOR=0.887	GT:AD:DP:GQ:PL	0/1:141,104:245:99:2384,0,3178	6	0	1	0
chr12	52951595	52951595	G	A	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon4:c.G772A:p.E258K,KRT18:NM_199187:exon5:c.G772A:p.E258K	Cirrhosis, cryptogenic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3272969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.211	0.0406890940888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347876514	9.577e-06	9.577e-06	4.084e-06	1.513e-05	2.987e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	2.236e-05	0	0	0	0	8.993e-06	3.312e-05	0	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.94	0.03030	T	0.007	0.19556	B	0.013	0.16460	B	0.193793	0.16776	N	0.513353	0.874503	0.28153	N	0.38	0.12130	N	-2.49	0.89145	D	0.69	0.02195	N	0.193	0.23506	-0.5999	0.64822	T	0.439	0.77765	T	10	0.09586775	0.17154	T	0.040689	0.59514	D	0.211	0.50185	.	.	0.564807590308	0.56144	0.33711777426591916	0.33624	0.609901705907	0.55697	0.367310762405	0.20445	T	0.321506	0.69260	T	-0.0969311	0.36933	T	-0.294146	0.45341	T	0.285273253917694	0.24392	T	0.725627	0.33984	T	0.15977314	0.35872	0.13554487	0.32450	0.15977314	0.35872	0.13554487	0.32449	-8.963	0.67458	D	0.10965201983919194	0.09178	0.206	0.43227	B	.;.;.	.;.;.	2.327061	0.29806	18.24	0.90549147926805984	0.19804	0.30971	0.24219	N	AEFBHCI	0.812927	0.73553	D	-0.592304290303385	0.19177	1.00163	-0.478043993983517	0.22760	1.237794	0.999999999490694	0.74766	0.722319	0.85440	0	0.588764	0.42986	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	3.59	3.59	0.40253	0.872000	0.27688	.	.	0.596000	0.33519	0.024000	0.20007	0.999000	0.35428	0.971000	0.54645	0.0:0.0:1.0:0.0	13.487	0.60826	764	0.49969	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	42.97	24	chr12	52951595	.	G	A	42.97	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.936;DP=201;ExcessHet=0;FS=47.695;MLEAC=1;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.68;SOR=4.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,6:37:50:0|1:52951595_G_A:50,0,1007:52951595	3	0	1	3
chr12	54002666	54002666	C	T	exonic	HOXC9	.	stopgain	HOXC9:NM_006897:exon2:c.C775T:p.Q259X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338293622	4.79e-06	4.788e-06	2.723e-06	6.879e-06	0.0007	1.99e-06	1.28e-06	0.0002	0.0001	0	0	0	0	0	0.0007	0	1.657e-05	2.319e-05	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000138	0.49741	D	0.080637	0.95715	0.38010	D	.	.	.	.	.	.	.	.	.	0.619	0.64478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.514725	0.94726	D	0.60222	0.97155	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	9.079834	0.98435	39	0.99549604912012335	0.71023	0.88035	0.47790	D	AEFDGBI	0.072388	0.14445	N	0.890367094651339	0.91280	10.80417	0.710252169007441	0.83157	7.948622	0.999999993610533	0.74766	0.609539	0.35627	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.13	4.13	0.47661	2.686000	0.46634	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	14.283	0.65775	204	0.92044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.1667	508.92	27	chr12	54002666	.	C	T	508.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.641;DP=161;ExcessHet=0.4139;FS=4.267;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.612;SOR=1.493	GT:AD:DP:GQ:PL	0/1:15,5:20:79:79,0,390	4	0	2	1
chr12	55681815	55681815	C	T	exonic	METTL7B	.	nonsynonymous SNV	METTL7B:NM_152637:exon1:c.C61T:p.L21F	.	431	1064	25	2	0	29	0.0134446	.	.	.	702406	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.062	.	0.0042	0.000998403	0.0073	0.0010	0.0042	0	0.0012	0.0136	0.0150	0.0034	0.0027037	418	154602	rs199581976	0.0036	0.0036	0.0035	0.0037	0.0193	0.0035	0.0035	0.0164	0.0153	0.0011	0.0027	0.0266	0	0.0007	0.0193	0.0033	0.0054	0.0027	0.0034	0.0034	0.0036	0.0032	0.0041	0.0032	0.0031	0.0037	0.0036	0.0008	0.0088	0.0031	0.0282	0	0.0006	0.0204	0.0041	0.0109	0.0029	0.005	0.63226	D	0.025	0.60337	D	0.008	0.14655	B	0.012	0.16012	B	0.033067	0.24945	U	0.331836	0.99201	0.41532	D	2.94	0.84723	M	1.8	0.25344	T	-2.9	0.60827	D	0.4	0.44090	-1.0594	0.11905	T	0.046	0.19680	T	10	0.0033551455	0.00058	T	.	.	.	0.062	0.17934	.	.	0.0675242888579	0.06100	0.8861837634931694	0.88587	0.0410168488921	0.04401	0.481642216444	0.36283	T	0.035111	0.24699	T	-0.575825	0.00204	T	-0.598818	0.12910	T	0.0420220997220355	0.04059	T	0.50025	0.15636	T	0.24753305	0.47732	0.29166937	0.55192	0.24753305	0.47732	0.29166937	0.55191	-5.103	0.37939	T	.	.	0.104	0.24733	B	.;.	.;.	2.197060	0.28021	17.66	0.99204784752352737	0.55381	0.48273	0.28170	N	ALL	0.875120	0.79836	D	-0.54545360957274	0.20627	1.08873	-0.562489992760993	0.20475	1.103277	0.999999999986705	0.74766	0.59774	0.34471	0	0.552344	0.17405	0	0.519653	0.09787	0	0.63947	0.58350	0	.	.	4.75	2.93	0.33092	-0.894000	0.04230	.	.	0.549000	0.26987	0.000000	0.06391	0.759000	0.26609	0.674000	0.33367	0.1728:0.5688:0.1673:0.0911	3.582	0.07507	725	0.54935	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019467	0.025253	0.017956	0.017857	0.000000	0.054545	0.015528	0.007692	0.08333	1051.27	33	chr12	55681815	.	C	T	1051.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.36;DP=259;ExcessHet=0;FS=3.98;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=0.936;SOR=1.121	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1061,0,1117	5	0	1	1
chr12	55693209	55693209	C	T	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon19:c.G1300A:p.E434K,ITGA7:NM_001144996:exon20:c.G2656A:p.E886K,ITGA7:NM_001144997:exon20:c.G2365A:p.E789K,ITGA7:NM_001374465:exon20:c.G2626A:p.E876K,ITGA7:NM_002206:exon20:c.G2644A:p.E882K,ITGA7:NM_001367993:exon21:c.G2317A:p.E773K	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	99943	not_provided|ITGA7-related_disorder|Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	.	0.0028	0.00119808	0.0040	0.0009	0.0021	0.0001	0.0009	0.0060	0.0132	0.0019	0.0038357	593	154602	rs144983062	0.0036	0.0036	0.0035	0.0037	0.0199	0.0035	0.0035	0.0170	0.0159	0.0011	0.0026	0.0282	2.519e-05	0.0007	0.0199	0.0033	0.0056	0.0027	0.0034	0.0035	0.0036	0.0032	0.0041	0.0032	0.0031	0.0036	0.0035	0.0008	0.0088	0.0041	0.0308	0	0.0005	0.0136	0.0040	0.0099	0.0023	0.099	0.30800	T	0.537	0.15746	T	0.307	0.32716	B	0.316	0.42592	B	0.030206	0.25342	N	0.401896	0.886497	0.35859	D	1.84	0.48285	L	0.78	0.49358	T	-1.8	0.42957	N	0.682	0.71942	-0.8686	0.50635	T	0.149	0.47610	T	10	0.00966835	0.00218	T	.	.	.	0.165	0.42395	.	.	0.446410834509	0.44261	0.3873274616763816	0.38647	0.553777361804	0.52138	0.650003910065	0.59987	T	0.014438	0.43425	T	-0.294246	0.09214	T	-0.194624	0.55155	T	0.023265311468717	0.01055	T	0.89671	0.63922	D	0.121053405	0.28473	0.12380122	0.29848	0.120533876	0.28361	0.1123319	0.27102	-7.277	0.57165	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	3.828538	0.55324	23.6	0.99877453271086847	0.95410	0.59895	0.31042	D	AEFGBI	0.244218	0.36536	N	0.0116875107614855	0.42385	2.552875	0.10039628931083	0.44569	2.736162	0.969611658293391	0.29142	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	2.603000	0.45930	.	.	0.545000	0.25583	0.993000	0.37899	1.000000	0.68203	0.916000	0.45140	0.0:0.8212:0.1788:0.0	11.718	0.50929	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014602	0.020202	0.014946	0.011696	0.000000	0.043103	0.009146	0.003788	0.08333	1292.27	34	chr12	55693209	.	C	T	1292.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.284;DP=275;ExcessHet=0;FS=0.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.09;SOR=0.764	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1302,0,995	5	0	1	1
chr12	56664498	56664498	-	TTTCCATCACTGTCTTTTAAATCAGCATCTGCTCCATTGATTTCTGGTAAATCCA	exonic	PTGES3	.	frameshift insertion	PTGES3:NM_001282605:exon6:c.310_311insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K104Mfs*47,PTGES3:NM_001282601:exon7:c.400_401insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K134Mfs*47,PTGES3:NM_001282602:exon7:c.373_374insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K125Mfs*47,PTGES3:NM_001282603:exon7:c.364_365insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K122Mfs*47,PTGES3:NM_006601:exon8:c.463_464insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K155Mfs*47,PTGES3:NM_001282604:exon9:c.475_476insTGGATTTACCAGAAATCAATGGAGCAGATGCTGATTTAAAAGACAGTGATGGAAA:p.K159Mfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.317e-05	0.0002	1.289e-05	1.346e-05	6.554e-05	2.19e-06	8.2e-07	.	.	2.416e-05	0	6.554e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	66.64	20	chr12	56664498	.	T	TTTTCCATCACTGTCTTTTAAATCAGCATCTGCTCCATTGATTTCTGGTAAATCCA	66.64	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=101;ExcessHet=0;FS=10.62;MLEAC=1;MLEAF=0.071;MQ=56.32;MQRankSum=-4.136;QD=3.51;ReadPosRankSum=0.28;SOR=2.798	GT:AD:DP:GQ:PL	0/1:16,3:19:77:77,0,663	6	0	1	0
chr12	68326899	68326899	G	A	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001205028:exon3:c.C256T:p.P86S,MDM1:NM_001354969:exon3:c.C256T:p.P86S,MDM1:NM_001354970:exon3:c.C241T:p.P81S,MDM1:NM_017440:exon3:c.C256T:p.P86S,MDM1:NM_020128:exon3:c.C256T:p.P86S	.	436	1085	1	0	0	1	0.000460617	.	.	.	2357165	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00746657894165	0.0002	.	0.0002	0	0	0	0	0.0003	0	0	0.0001358	21	154602	rs145037466	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0	4.472e-05	0.0026	0	0.0004	0	0.0001	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	6.548e-05	0.0017	0	0.0002	0	0.0002	0	0	0.03	0.53900	D	0.2	0.43531	T	0.431	0.43487	B	0.11	0.36167	B	0.051773	0.22952	N	0.471427	1	0.19781	N	2.075	0.57047	M	1.78	0.25678	T	-1.92	0.68880	N	0.068	0.04072	-1.0463	0.15447	T	0.050	0.21104	T	9	0.011851221	0.00257	T	0.007467	0.19819	T	0.029	0.06676	.	.	0.101711395817	0.09552	0.2621950015386377	0.26132	0.0515022165253	0.05672	0.244799047709	0.03240	T	0.097004	0.39939	T	-0.477373	0.00766	T	-0.617513	0.11381	T	0.0361435131852636	0.03006	T	0.727827	0.35642	T	0.0338095	0.03675	0.046340365	0.06438	0.0338095	0.03674	0.046340365	0.06438	-3.74	0.20521	T	.	.	0.088	0.18164	B	.;.;.;.	.;.;.;.	0.544268	0.09130	5.912	0.6746113095010825	0.08361	0.07642	0.13650	N	AEFDBIJ	0.045419	0.07426	N	-0.572715165530515	0.19777	1.037717	-0.659442018095546	0.17978	0.9583998	0.998595058325628	0.37268	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.25	1.22	0.20300	0.033000	0.13642	1.873000	0.29400	0.676000	0.76740	0.257000	0.24919	0.999000	0.35428	0.005000	0.06747	0.2331:0.0:0.4871:0.2798	4.352	0.10597	903	0.23940	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1570.49	41	chr12	68326899	.	G	A	1570.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.524;DP=324;ExcessHet=0;FS=2.374;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.46;SOR=0.62	GT:AD:DP:GQ:PL	0/1:50,66:116:99:1581,0,1155	6	0	1	0
chr12	69879248	69879248	C	T	exonic	MYRFL	.	nonsynonymous SNV	MYRFL:NM_182530:exon4:c.C259T:p.L87F	.	380	1140	2	0	0	2	0.000876424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140827174173	.	0.000399361	0.0028	0.0018	0.0053	0	0	0.0008	0.0076	0.0038	0.0003946	61	154602	rs550598975	0.0015	0.0013	0.0014	0.0016	0.0032	0.0014	0.0014	0.0029	0.0027	0.0004	0.0011	0	0	0.0027	0.0002	0.0014	0.0016	0.0032	0.0011	0.0011	0.0009	0.0012	0.0023	0.0009	0.0009	0.0016	0.0014	0.0003	0	0.0022	0	0	0.0011	0	0.0014	0.0009	0.0023	0.006	0.61437	D	0.228	0.28210	T	.	.	.	.	.	.	.	.	.	.	0.99993	0.19486	N	.	.	.	2.19	0.18724	T	-3.38	0.66780	D	0.09	0.07125	.	.	.	.	.	.	.	0.0051528513	0.00112	T	0.014083	0.33954	T	.	.	.	.	0.229264304666	0.22521	0.058786026024556015	0.05819	.	.	.	.	.	0.003953	0.03363	T	-0.615227	0.00118	T	-0.658929	0.08340	T	.	.	.	0.511749	0.16382	T	0.08656704	0.20125	0.23701796	0.48988	0.08656704	0.20125	0.23701796	0.48987	-5.099	0.37897	T	.	.	0.068	0.08851	B	.;.	.;.	1.424292	0.18417	13.72	0.98246255901797475	0.39530	0.09871	0.15527	N	AEFDGBCI	0.095238	0.19245	N	.	.	.	.	.	.	0.999442216969767	0.39736	0.525926	0.21836	0	0.615948	0.52940	0	0.607795	0.38427	0	0.554799	0.18163	0	.	.	5.12	3.19	0.35720	0.474000	0.21858	0.473000	0.18731	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.0:0.6462:0.3538:0.0	11.385	0.49019	532	0.73501	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1278.63	35	chr12	69879248	.	C	T	1278.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.793;DP=352;ExcessHet=0;FS=3.742;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=0.825;SOR=0.414	GT:AD:DP:GQ:PL	0/1:47,51:98:99:1289,0,1281	6	0	1	0
chr12	71699085	71699085	T	G	exonic	TMEM19	.	nonsynonymous SNV	TMEM19:NM_018279:exon5:c.T823G:p.L275V	.	429	1072	21	0	0	21	0.00969977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.0351813460054	0.0056	0.00159744	0.0052	0.0007	0.0029	0	0.0015	0.0070	0.0066	0.0065	0.0051358	794	154602	rs145012054	0.0059	0.0059	0.0059	0.0060	0.0120	0.0058	0.0058	0.0097	0.0089	0.0006	0.0030	0.0165	0	0.0020	0.0120	0.0062	0.0066	0.0076	0.0043	0.0043	0.0041	0.0044	0.0062	0.0040	0.0039	0.0057	0.0055	0.0014	0	0.0035	0.0173	0	0.0016	0.0068	0.0062	0.0061	0.0048	0.003	0.68238	D	0.046	0.49120	D	0.568	0.70673	P	0.166	0.58969	B	0.000080	0.52346	D	0.073167	0.999982	0.54805	D	2.475	0.71894	M	.	.	.	-2.77	0.58733	D	0.807	0.80278	-0.6447	0.62944	T	0.217	0.57902	T	8	0.014507443	0.00305	T	0.035181	0.56172	D	0.250	0.55888	.	.	0.107399877778	0.10242	0.9057006794600863	0.90543	0.317847215541	0.34018	0.5352191329	0.43770	T	0.270176	0.64242	T	-0.103541	0.35838	T	0.0836211	0.75820	D	0.0206278004675064	0.00762	T	0.945605	0.85339	D	0.33984637	0.56267	0.3509122	0.60694	0.33984637	0.56267	0.3509122	0.60693	-7.335	0.69883	T	.	.	0.226	0.52671	B	.;.;.	.;.;.	2.978086	0.39716	21.0	0.99333427364098725	0.59856	0.94587	0.61652	D	AEFDBHI	0.433414	0.49488	N	0.267850151330828	0.54528	3.618044	0.295395940576656	0.55271	3.690213	0.994122170462301	0.33498	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.06	3.69	0.41483	2.230000	0.42644	1.540000	0.27221	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.1402:0.0:0.8598	9.465	0.37971	889	0.27310	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.006793	0.000000	0.000000	0.000000	0.012195	0.003788	0.07143	1556.44	34	chr12	71699085	.	T	G	1556.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.081;DP=297;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=2.2;SOR=0.702	GT:AD:DP:GQ:PL	0/1:47,66:113:99:1567,0,1151	6	0	1	0
chr12	95995835	95995835	A	G	exonic	HAL	.	nonsynonymous SNV	HAL:NM_001258334:exon2:c.T76C:p.W26R,HAL:NM_002108:exon2:c.T76C:p.W26R	.	.	.	.	.	.	.	.	.	.	.	2729657	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.861	0.206526318453	.	.	2.536e-05	0	0	0	0	3.092e-05	0	6.073e-05	1.94e-05	3	154602	rs751660582	1.508e-05	1.505e-05	9.547e-06	2.066e-05	0.0002	9.87e-06	8.43e-06	1.093e-05	8.81e-06	0	0	0	0	0	0.0002	1.709e-05	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.50132	D	0.138	0.34837	T	0.98	0.59353	D	0.602	0.50862	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.045	0.56016	M	-1.46	0.88689	T	-4.91	0.88495	D	0.89	0.88909	0.536	0.91042	D	0.706	0.89904	D	10	0.7547848	0.75901	D	0.206526	0.87044	D	0.861	0.95765	0.461	0.52916	0.961556331926	0.96114	0.8851737682835614	0.88486	0.736136313559	0.62988	0.713584125042	0.69113	T	0.290095	0.66287	T	0.329002	0.85093	D	0.342469	0.90016	D	0.930777907371521	0.59570	D	0.813919	0.47377	T	0.7575727	0.81311	0.68202174	0.81312	0.7575727	0.81312	0.68202174	0.81313	-10.262	0.77008	D	.	.	0.752	0.78521	P	.;.;.	.;.;.	4.737149	0.76355	26.5	0.99308357136408332	0.58906	0.93630	0.58745	D	AEFDBHCI	0.963326	0.98520	D	0.638805756028408	0.75647	6.342932	0.642824951471566	0.78079	6.804326	0.999999999999979	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.55458	0.18720	0	0.542086	0.14980	0	.	.	5.2	5.2	0.71720	8.867000	0.91934	11.092000	0.85948	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	1.0:0.0:0.0:0.0	15.341	0.74005	912	0.21483	Par3/HAL, N-terminal;.;Par3/HAL, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	335.45	33	chr12	95995835	.	A	G	335.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.261;DP=230;ExcessHet=0;FS=1.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.8;ReadPosRankSum=0.013;SOR=1.087	GT:AD:DP:GQ:PL	0/1:28,15:43:99:346,0,723	6	0	1	0
chr12	101306004	101306004	A	G	exonic	UTP20	.	nonsynonymous SNV	UTP20:NM_014503:exon16:c.A1871G:p.Q624R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0252984563009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.17761	T	0.224	0.25591	T	0.015	0.17086	B	0.009	0.14300	B	0.000193	0.48115	D	0.216416	0.969585	0.25746	N	0.345	0.11182	N	-0.12	0.64630	T	-0.55	0.16799	N	0.134	0.13055	-1.0146	0.25464	T	0.149	0.47505	T	10	0.12690967	0.24131	T	0.025298	0.48274	D	0.107	0.30369	0.407	0.44066	0.537635407634	0.53415	0.11935451966590478	0.11862	0.126456553319	0.14255	0.285697966814	0.08299	T	0.010006	0.09071	T	-0.154024	0.27686	T	-0.459021	0.26705	T	0.380552131869813	0.28203	T	0.527447	0.17405	T	0.10589898	0.25039	0.13325287	0.31957	0.10589898	0.25039	0.13325287	0.31956	-3.556	0.17225	T	.	.	0.076	0.05935	B	.	.	3.698944	0.52748	23.3	0.90152260895149083	0.19431	0.98676	0.85452	D	AEFDGBI	0.761986	0.69953	D	-0.118093299403704	0.36606	2.118115	0.0858779520819897	0.43835	2.677276	0.999972348790339	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	8.046000	0.89213	11.142000	0.87100	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.691000	0.33868	1.0:0.0:0.0:0.0	15.920	0.79342	823	0.40596	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.000000	0.07143	636.63	33	chr12	101306004	.	A	G	636.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.458;DP=221;ExcessHet=0;FS=3.617;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.79;ReadPosRankSum=0.463;SOR=1.236	GT:AD:DP:GQ:PL	0/1:29,30:59:99:647,0,724	6	0	1	0
chr12	104067989	104067989	C	T	exonic	HCFC2	.	nonsynonymous SNV	HCFC2:NM_013320:exon3:c.C355T:p.P119S	.	434	1033	51	4	0	59	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	0.0019	0.0217652	0.0118	0.0028	0.0015	0.0003	0.0002	0.0020	0.0154	0.0748	0.0103815	1605	154602	rs150909028	0.0055	0.0055	0.0036	0.0074	0.0716	0.0054	0.0053	0.0701	0.0695	0.0022	0.0017	0.0155	0.0002	9.373e-05	0.0138	0.0007	0.0079	0.0716	0.0041	0.0041	0.0031	0.0052	0.0738	0.0039	0.0038	0.0675	0.0650	0.0027	0	0.0012	0.0164	0.0015	9.457e-05	0	0.0010	0.0043	0.0738	0.762	0.06441	T	0.509	0.19188	T	0.0	0.02946	B	0.0	0.01387	B	0.017630	0.27675	N	0.465207	0.994542	0.23495	N	-0.2	0.04182	N	-0.73	0.73100	T	1.14	0.01488	N	0.079	0.05414	-1.0032	0.28992	T	0.097	0.36341	T	10	0.0012520552	0.00014	T	.	.	.	0.082	0.23913	.	.	.	.	0.2593041446709966	0.25844	0.812225268878	0.66784	0.273396193981	0.06588	T	0.025239	0.18911	T	-0.471885	0.00827	T	-0.395535	0.33905	T	0.000383467336503744	0.00003	T	0.70043	0.31009	T	0.028307982	0.02149	0.032848753	0.02084	0.028307982	0.02149	0.032848753	0.02084	-3.569	0.17410	T	.	.	0.060	0.02993	B	.;.	.;.	0.605430	0.09738	6.507	0.72821341790466698	0.10107	0.05369	0.11230	N	AEFBI	0.031441	0.03364	N	-1.11600442923523	0.06358	0.2924515	-0.96389539465514	0.10602	0.5350199	0.989493607714454	0.31844	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	5.64	-0.9	0.10008	0.467000	0.21747	0.047000	0.13948	-0.167000	0.11441	0.035000	0.20724	0.005000	0.19230	0.974000	0.55675	0.0:0.2705:0.1259:0.6036	5.946	0.18456	819	0.41190	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.000000	0.008152	0.005848	0.000000	0.008621	0.018293	0.041667	0.07143	1284.63	34	chr12	104067989	.	C	T	1284.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.706;DP=300;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.462;SOR=0.743	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1295,0,1545	6	0	1	0
chr12	109256176	109256176	A	G	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon45:c.A6203G:p.H2068R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0102063883961	.	.	1.657e-05	0	0	0	0	1.508e-05	0	6.066e-05	1.29e-05	2	154602	rs774849156	6.841e-06	6.84e-06	1.361e-06	1.238e-05	0.0002	3.46e-06	2.52e-06	9.24e-06	4.56e-06	0	2.236e-05	0	0	0	0.0002	3.597e-06	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.09101	T	0.515	0.10643	T	0.144	0.27697	B	0.054	0.25828	B	0.004277	0.33923	N	0.347798	0.999524	0.54805	D	-0.65	0.02095	N	1.65	0.27650	T	-2.06	0.47175	N	0.127	0.14763	-1.0058	0.28216	T	0.023	0.09832	T	10	0.11056355	0.20671	T	0.010206	0.26478	T	0.131	0.35738	0.527	0.63263	0.203808441222	0.19973	0.6473109039353844	0.64666	0.290772835232	0.31486	0.385244041681	0.22998	T	0.644877	0.89153	D	-0.325674	0.06445	T	-0.524057	0.19885	T	0.225040450692177	0.21713	T	0.769523	0.39899	T	0.29071024	0.52058	0.13762602	0.32891	0.29071024	0.52058	0.13762602	0.32890	-5.874	0.45212	T	.	.	0.066	0.02257	B	.;.;.	.;.;.	3.055360	0.41009	21.3	0.93241904360200956	0.22927	0.97778	0.77065	D	AEFBI	0.758212	0.69693	D	-0.372409212478549	0.26456	1.44403	-0.096357928542728	0.35541	2.057392	0.999953591270395	0.48110	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.09	5.09	0.68647	5.333000	0.65692	6.097000	0.53509	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	1.0:0.0:0.0:0.0	14.832	0.69784	705	0.57330	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2458.45	33	chr12	109256176	.	A	G	2458.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.38;DP=317;ExcessHet=0;FS=0.649;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=18.48;ReadPosRankSum=0.016;SOR=0.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,64:133:99:0|1:109256176_A_G:2469,0,2691:109256176	6	0	1	0
chr12	113307780	113307780	A	C	exonic	SLC8B1	.	nonsynonymous SNV	SLC8B1:NM_001330466:exon12:c.T1154G:p.V385G,SLC8B1:NM_001358345:exon13:c.T1322G:p.V441G,SLC8B1:NM_024959:exon13:c.T1322G:p.V441G	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.579	0.13849960532	.	.	5.033e-05	0	0	0	0	9.177e-05	0	0	5.82e-05	9	154602	rs778790026	3.216e-05	3.215e-05	3.131e-05	3.301e-05	0.0014	2.478e-05	2.221e-05	0.0007	0.0005	0	0	0	0	0	0.0014	3.237e-05	4.968e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.067	0.78490	T	0.002	0.79402	D	0.999	0.77913	D	0.987	0.77487	D	0.001214	0.39820	N	0.164310	1	0.81001	D	.	.	.	-0.3	0.67874	T	-5.59	0.86527	D	0.762	0.77601	-0.0258	0.81719	T	0.484	0.80311	T	10	0.83826786	0.82981	D	0.139	0.82099	D	0.579	0.83024	.	.	0.809923124787	0.80813	0.9615975286832057	0.96145	0.687456490586	0.60386	0.701551735401	0.67368	T	0.654828	0.89569	D	0.233999	0.77096	D	0.290029	0.87676	D	0.921293258666992	0.58087	D	0.779722	0.42389	T	0.39228594	0.60194	0.46712747	0.69084	0.39228594	0.60195	0.46712747	0.69085	-11.208	0.80786	D	.	.	0.580	0.69456	P	.;.;.	.;.;.	5.810916	0.93657	33	0.99544918858026776	0.70773	0.93346	0.57971	D	AEFDGBHCI	0.807875	0.73180	D	0.587075731987862	0.72366	5.794583	0.460352479205581	0.65386	4.817026	0.999999999940014	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.35	3.22	0.36041	7.117000	0.76757	11.044000	0.85213	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.9156:0.0:0.0844:0.0	9.759	0.39687	825	0.40060	Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	941.44	35	chr12	113307780	.	A	C	941.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.551;DP=281;ExcessHet=0;FS=3.737;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.687;SOR=0.864	GT:AD:DP:GQ:PL	0/1:55,43:98:99:952,0,1392	6	0	1	0
chr12	121779653	121779653	C	T	exonic	RHOF	.	nonsynonymous SNV	RHOF:NM_019034:exon5:c.G481A:p.A161T	.	422	1084	15	1	0	17	0.00778032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	.	0.0025	0.014377	0.0102	0.0012	0.0074	0.0233	0.0156	0.0046	0.0167	0.0305	0.0092431	1429	154602	rs34719836	0.0054	0.0054	0.0046	0.0062	0.0286	0.0053	0.0052	0.0276	0.0273	0.0014	0.0061	0.0345	0.0180	0.0144	0.0132	0.0018	0.0090	0.0286	0.0054	0.0054	0.0044	0.0065	0.0296	0.0051	0.0050	0.0257	0.0242	0.0011	0	0.0073	0.0265	0.0199	0.0151	0.0272	0.0021	0.0118	0.0296	0.267	0.16198	T	0.117	0.36365	T	0.041	0.21357	B	0.009	0.14300	B	0.000064	0.52346	D	0.130199	0.733097	0.81001	D	0.105	0.08473	N	-0.43	0.69657	T	-0.58	0.17417	N	0.031	0.14622	-0.9351	0.43379	T	0.065	0.27017	T	10	0.0039672554	0.00076	T	.	.	.	0.128	0.35103	.	.	.	.	0.5111428600780548	0.51036	0.251119777169	0.27690	0.389992594719	0.23669	T	0.117886	0.59509	T	-0.540859	0.00331	T	-0.52737	0.19550	T	0.0136014360657771	0.00252	T	0.60024	0.23960	T	0.03787948	0.04942	0.0666522	0.13684	0.03787948	0.04941	0.0666522	0.13683	-3.98	0.23503	T	.	.	0.166	0.36495	B	.;.;.	.;.;.	1.789484	0.22746	15.75	0.98776299459780836	0.46049	0.24544	0.22426	N	AEFDGBCI	0.057339	0.10672	N	-0.493553668647655	0.22291	1.189256	-0.335312879505817	0.26967	1.493189	0.99999977544347	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.655142	0.61905	0	.	.	5.02	4.07	0.46726	0.609000	0.23935	0.637000	0.20283	-0.171000	0.11205	0.221000	0.24547	0.146000	0.23136	0.892000	0.42986	0.0:0.7962:0.0:0.2038	8.108	0.30059	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026687	0.035354	0.042120	0.014620	0.000000	0.025862	0.015244	0.003788	0.07143	825.45	43	chr12	121779653	.	C	T	825.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.665;DP=252;ExcessHet=0;FS=0.981;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=1.97;SOR=0.484	GT:AD:DP:GQ:PL	0/1:26,37:63:99:836,0,484	6	0	1	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E,DNAH10:NM_001372106:exon63:c.C10746A:p.D3582E	.	428	1031	62	1	0	64	0.0301035	.	.	.	3512179	DNAH10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.017120	0.005051	0.013587	0.005848	0.050000	0.008621	0.021341	0.034091	0.07143	844.44	34	chr12	123916480	.	C	A	844.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.15;DP=287;ExcessHet=0;FS=5.121;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.36;ReadPosRankSum=-0.817;SOR=1.16	GT:AD:DP:GQ:PL	0/1:63,38:101:99:855,0,1527	6	0	1	0
chr12	131916513	131916513	C	T	exonic	ULK1	.	nonsynonymous SNV	ULK1:NM_003565:exon20:c.C1994T:p.S665L	.	424	1097	0	1	0	2	0.000910747	.	.	.	717943	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.079	0.00538797856413	0.0018	0.000998403	0.0018	0.0003	0.0006	0.0001	0.0005	0.0028	0.0034	0.0007	0.0017464	270	154602	rs55815560	0.0024	0.0024	0.0023	0.0024	0.0026	0.0023	0.0023	0.0025	0.0025	0.0003	0.0004	0.0092	0.0005	0.0007	0.0005	0.0026	0.0023	0.0010	0.0017	0.0017	0.0019	0.0014	0.0027	0.0015	0.0014	0.0023	0.0022	0.0005	0	0.0003	0.0092	0.0006	0.0008	0	0.0027	0.0005	0.0006	0.074	0.34621	T	0.273	0.22154	T	0.002	0.09854	B	0.001	0.04355	B	0.936898	0.07569	N	1.033790	1	0.20152	N	0.69	0.16971	N	1.57	0.29342	T	-1.8	0.42384	N	0.378	0.41952	-1.0972	0.04447	T	0.047	0.20235	T	10	0.0068562925	0.00156	T	0.005388	0.13832	T	0.079	0.23065	.	.	0.151262610727	0.14761	0.13528880461995071	0.13452	0.0941212502149	0.10624	0.456293880939	0.32803	T	0.224216	0.58859	T	-0.491788	0.00635	T	-0.485054	0.23910	T	0.012311298934835	0.00200	T	0.929807	0.74042	D	0.06279258	0.13153	0.0824346	0.18813	0.06279258	0.13152	0.0824346	0.18813	-5.041	0.37282	T	.	.	0.098	0.16319	B	.	.	3.446149	0.47969	22.5	0.99445507344803163	0.64971	0.75164	0.36790	D	AEFDBCI	0.181063	0.30838	N	-0.237196397309404	0.31618	1.77469	-0.125476394804576	0.34365	1.976027	0.824564728935087	0.24584	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.69	3.79	0.42757	1.853000	0.38998	5.036000	0.46868	0.599000	0.40250	0.904000	0.31524	1.000000	0.68203	0.024000	0.12247	0.365:0.5069:0.1281:0.0	7.836	0.28533	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001512	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.007576	0.07143	863.63	37	chr12	131916513	.	C	T	863.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.92;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=0.607;SOR=0.62	GT:AD:DP:GQ:PL	0/1:33,36:69:99:874,0,708	6	0	1	0
chr12	132626154	132626154	C	T	exonic	POLE	.	nonsynonymous SNV	POLE:NM_006231:exon46:c.G6494A:p.R2165H	FILS syndrome, Autosomal recessive	433	1029	57	3	0	63	0.029703	.	.	.	222211	Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Colorectal_cancer,_susceptibility_to,_12	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014038,MedGen:C3554460,OMIM:615083,Orphanet:220460	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.259	.	0.0068	0.00978435	0.0092	0.0123	0.0048	0.0169	0.0009	0.0064	0.0192	0.0178	0.0058408	903	154602	rs5745068	0.0045	0.0045	0.0041	0.0048	0.0309	0.0044	0.0043	0.0271	0.0256	0.0088	0.0029	0.0093	0.0057	0.0004	0.0309	0.0034	0.0071	0.0144	0.0057	0.0057	0.0055	0.0060	0.0108	0.0054	0.0053	0.0085	0.0077	0.0082	0.0011	0.0052	0.0084	0.0108	0.0002	0.0170	0.0043	0.0085	0.0104	0.035	0.43708	D	0.05	0.48080	T	0.993	0.65571	D	0.616	0.51268	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.29	0.90338	M	1.86	0.24285	T	-3.7	0.70553	D	0.633	0.64648	-0.8366	0.52871	T	0.096	0.36081	T	10	0.011993051	0.00260	T	.	.	.	0.259	0.57090	.	.	0.517432700143	0.51384	0.5751870939627702	0.57447	0.58252265955	0.54005	0.542047679424	0.44735	T	0.703579	0.91486	D	-0.347488	0.04887	T	-0.260242	0.48800	T	0.0424953375228143	0.04145	T	0.962504	0.85970	D	0.37450618	0.58915	0.16561173	0.38303	0.45453155	0.64329	0.18027803	0.40816	-5.607	0.42856	T	0.4042567981621327	0.49558	0.135	0.37914	B	.;.	.;.	4.019289	0.59351	24.1	0.99945681444665291	0.99901	0.96744	0.70707	D	AEFDBI	0.775560	0.70893	D	0.557586679574714	0.70546	5.517285	0.492725804327581	0.67508	5.093279	0.999999999939494	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.81	3.92	0.44525	5.919000	0.69736	2.207000	0.31336	0.599000	0.40250	1.000000	0.71638	0.978000	0.30204	0.854000	0.40426	0.0:0.9229:0.0:0.0771	13.228	0.59351	789	0.46346	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.029263	0.030303	0.020380	0.029240	0.050000	0.017241	0.033742	0.026515	0.1667	1060.92	20	chr12	132626154	.	C	T	1060.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.811;DP=212;ExcessHet=0.4139;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-0.195;SOR=0.67	GT:AD:DP:GQ:PL	0/1:30,28:58:99:658,0,667	4	0	2	1
chr12	132853526	132853526	G	A	exonic	CHFR	.	nonsynonymous SNV	CHFR:NM_001161347:exon9:c.C1037T:p.A346V,CHFR:NM_001161344:exon11:c.C1313T:p.A438V,CHFR:NM_001161345:exon11:c.C1313T:p.A438V,CHFR:NM_001161346:exon11:c.C1277T:p.A426V,CHFR:NM_018223:exon11:c.C1190T:p.A397V	.	419	1090	12	1	0	14	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00187130817257	7.9e-05	.	0.0003	0	0	0	0	0	0	0.0008	0.0001229	19	154602	rs374229656	0.0001	0.0001	0.0001	0.0002	0.0018	0.0001	0.0001	0.0010	0.0009	3.325e-05	0	0	0	0	0.0018	5.122e-05	0.0004	0.0012	6.566e-05	6.562e-05	2.569e-05	0.0001	0.0008	3.514e-05	2.614e-05	0.0003	0.0002	0	0	6.534e-05	0	0	0	0	5.882e-05	0.0005	0.0008	0.191	0.21066	T	0.449	0.12993	T	0.003	0.11197	B	0.002	0.12133	B	0.580503	0.05532	N	1.192850	1	0.08975	N	1.185	0.30054	L	2.21	0.18414	T	-1.09	0.31778	N	0.118	0.11054	-1.0307	0.20227	T	0.039	0.16806	T	10	0.01057899	0.00235	T	0.001871	0.03272	T	0.024	0.04979	.	.	0.21174354426	0.20776	0.19898332308447045	0.19815	0.355335991754	0.37297	0.306828260422	0.11427	T	0.108948	0.42240	T	-0.644607	0.00078	T	-0.739243	0.03922	T	0.0122134965699735	0.00196	T	0.531447	0.17660	T	0.061637983	0.12786	0.050694257	0.08007	0.061637983	0.12785	0.050694257	0.08006	-4.237	0.31856	T	.	.	0.059	0.02960	B	.;.;.;.	.;.;.;.	-0.188898	0.03147	0.509	0.48238702243689113	0.04009	0.02353	0.06713	N	AEFBHI	0.044286	0.07105	N	-1.80230655750823	0.00539	0.02322983	-1.87651312526596	0.00544	0.02414004	0.996438412244953	0.34743	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.39	-5.95	0.02054	0.221000	0.17463	-0.006000	0.13130	-1.837000	0.00584	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.367:0.1758:0.3682:0.089	3.122	0.06010	952	0.10565	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	919.44	34	chr12	132853526	.	G	A	919.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.094;DP=260;ExcessHet=0;FS=3.046;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=0.388;SOR=0.825	GT:AD:DP:GQ:PL	0/1:41,36:77:99:930,0,1035	6	0	1	0
chr13	19633783	19633783	C	G	exonic	MPHOSPH8	.	nonsynonymous SNV	MPHOSPH8:NM_017520:exon1:c.C35G:p.A12G	.	411	1107	4	0	0	4	0.00180343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0212192905689	0.0012	0.000998403	0.0027	0.0009	0.0005	0	0.0045	0.0036	0.0023	0.0029	0.0013648	211	154602	rs146735121	0.0015	0.0015	0.0014	0.0016	0.0025	0.0014	0.0014	0.0022	0.0021	2.995e-05	0.0002	7.725e-05	0	0.0031	0.0013	0.0015	0.0008	0.0025	0.0012	0.0013	0.0013	0.0012	0.0021	0.0011	0.0010	0.0018	0.0017	0.0002	0	6.533e-05	0	0	0.0027	0	0.0021	0.0009	0.0008	0.002	0.72154	D	0.023	0.57104	D	0.001	0.07471	B	0.001	0.04355	B	0.267291	0.03749	N	1.511360	1	0.08975	N	2.045	0.56016	M	1.01	0.41058	T	-0.99	0.26200	N	0.242	0.27316	-1.0129	0.26007	T	0.082	0.32353	T	10	0.00494346	0.00106	T	0.021219	0.43954	T	0.032	0.07718	.	.	0.370276754211	0.36643	0.14221635104878683	0.14144	0.312254783512	0.33525	0.498719632626	0.38649	T	0.02073	0.16269	T	-0.565944	0.00234	T	-0.588766	0.13773	T	0.0343777376467973	0.02701	T	0.466353	0.13696	T	0.16632646	0.36961	0.1998389	0.43886	0.16632646	0.36960	0.1998389	0.43885	-3.88	0.22002	T	.	.	0.097	0.15743	B	.	.	1.545946	0.19817	14.45	0.98258569866304224	0.39639	0.91085	0.52830	D	ALL	0.080626	0.16304	N	-0.826091289741176	0.12645	0.6177178	-0.852657992635454	0.13224	0.6848221	0.999999990107616	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.76	1.99	0.25423	0.871000	0.27675	0.190000	0.15733	0.524000	0.24156	0.003000	0.16062	0.000000	0.08366	0.016000	0.10718	0.1412:0.5774:0.1371:0.1443	3.231	0.06349	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002024	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.011364	0.07143	1184.44	34	chr13	19633783	.	C	G	1184.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.435;DP=305;ExcessHet=0;FS=2.379;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.567;SOR=0.943	GT:AD:DP:GQ:PL	0/1:62,54:116:99:1195,0,1640	6	0	1	0
chr13	25096284	25096286	AGA	-	exonic	PABPC3	.	nonframeshift deletion	PABPC3:NM_030979:exon1:c.86_88del:p.K30del	.	432	1066	24	0	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0015	9.614e-05	0.0010	0.0002	0	0.0017	0.0022	0.0033	0.0003458	9	26028	rs773401999	0.0012	0.0012	0.0010	0.0013	0.0104	0.0011	0.0011	0.0083	0.0075	0.0002	0.0014	0.0170	2.519e-05	0	0.0104	0.0006	0.0027	0.0038	0.0010	0.0010	0.0010	0.0010	0.0046	0.0009	0.0008	0.0031	0.0026	0.0002	0	0.0012	0.0144	0	0	0.0068	0.0006	0.0052	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.000000	0.006793	0.017544	0.000000	0.000000	0.012195	0.000000	0.07143	4183.4	35	chr13	25096283	.	GAGA	G	4183.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.56;DP=427;ExcessHet=0;FS=1.703;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.46;ReadPosRankSum=-0.516;SOR=0.832	GT:AD:DP:GQ:PL	0/1:107,108:215:99:4194,0,4152	6	0	1	0
chr13	28322931	28322931	T	C	exonic	FLT1	.	nonsynonymous SNV	FLT1:NM_002019:exon21:c.A2812G:p.M938V	.	430	1077	14	1	0	16	0.00737327	.	.	.	702653	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0028	0.00359425	0.0032	0.0009	0.0010	0	0.0002	0.0032	0.0033	0.0093	0.0030465	471	154602	rs35549791	0.0026	0.0026	0.0023	0.0029	0.0087	0.0026	0.0025	0.0082	0.0080	0.0005	0.0016	0.0005	0	0.0002	0.0069	0.0025	0.0027	0.0087	0.0024	0.0024	0.0024	0.0024	0.0094	0.0022	0.0021	0.0072	0.0064	0.0007	0.0011	0.0043	0.0009	0.0002	0	0.0034	0.0030	0.0038	0.0094	0.554	0.06502	T	0.508	0.10893	T	0.0	0.02946	B	0.002	0.06944	B	0.948503	0.07640	N	1.021770	1	0.08975	N	0.615	0.15706	N	-0.8	0.73845	T	0.07	0.06138	N	0.111	0.09772	-0.9777	0.35526	T	0.140	0.45866	T	10	0.0031074882	0.00052	T	.	.	.	0.071	0.20720	.	.	0.228066490088	0.22430	0.3764998894323643	0.37563	0.286092782875	0.31015	0.251135587692	0.03888	T	0.331921	0.70194	T	-0.581191	0.00189	T	-0.601644	0.12674	T	0.00402470849751331	0.00043	T	0.278972	0.07508	T	0.01784996	0.00309	0.035179887	0.02721	0.01784996	0.00309	0.035179887	0.02721	-3.524	0.16769	T	.	.	0.053	0.00248	B	.;.	.;.	-1.978851	0.00106	0.002	0.32694068452336811	0.01908	0.01224	0.04337	N	AEFGBCI	0.063911	0.12380	N	-1.76704238412251	0.00631	0.02720725	-1.82360273110645	0.00686	0.03055535	0.99999999998648	0.74766	0.730579	0.87903	0	0.315538	0.05683	2	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.75	-9.27	0.00560	-2.987000	0.00723	-6.572000	0.01362	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.089:0.5638:0.2136:0.1337	8.255	0.30908	922	0.19044	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.07143	176.46	14	chr13	28322931	.	T	C	176.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.094;DP=121;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.06;ReadPosRankSum=1.39;SOR=1.022	GT:AD:DP:GQ:PL	0/1:16,9:25:99:187,0,417	6	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	453.09	45	chr13	38859428	.	G	C	453.09	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.538;DP=745;ExcessHet=2.5225;FS=268.6;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.78;SOR=10.778	GT:AD:DP:GQ:PL	0/1:88,43:135:99:120,0,1399	2	0	4	1
chr13	39047760	39047760	T	C	exonic	NHLRC3	.	nonsynonymous SNV	NHLRC3:NM_001017370:exon6:c.T677C:p.I226T,NHLRC3:NM_001012754:exon7:c.T878C:p.I293T	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0489988691516	7.7e-05	0.000798722	0.0006	9.628e-05	0.0002	0.0001	0	7.495e-05	0	0.0039	0.0004981	77	154602	rs200432148	0.0003	0.0004	0.0002	0.0005	0.0048	0.0003	0.0003	0.0045	0.0043	5.975e-05	2.236e-05	0	0.0002	0	0.0009	5.038e-05	0.0004	0.0048	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0001	0.0027	0.0023	2.405e-05	0	0.0002	0.0003	0.0002	0	0	0.0001	0	0.0041	0.052	0.58626	T	0.29	0.49390	T	0.999	0.77913	D	0.937	0.67262	D	0.000006	0.62929	D	0.142736	0.981969	0.39837	D	2.38	0.68558	M	-0.16	0.67367	T	-2.2	0.49519	N	0.528	0.58117	-0.1422	0.79111	T	0.432	0.77361	T	9	0.01135394	0.00249	T	0.048999	0.63619	D	0.284	0.60219	.	.	0.916706834317	0.91586	0.6576543416918096	0.65702	0.180758632047	0.20328	0.486777126789	0.36993	T	0.009173	0.08364	T	-0.222021	0.17717	T	-0.0907409	0.64106	T	0.0754042825595457	0.09389	T	0.89941	0.64770	D	0.10241989	0.24202	0.13898268	0.33175	0.10241989	0.24202	0.13898268	0.33174	-2.062	0.07532	T	.	.	0.086	0.20741	B	.;.;.	.;.;.	4.017934	0.59328	24.1	0.99608783048522642	0.74694	0.95624	0.65469	D	AEFDGBHCI	0.841958	0.75911	D	0.483222147988572	0.66110	4.907998	0.412899454687167	0.62366	4.451008	0.999999999999987	0.74766	0.77792	0.99625	0	0.723133	0.82719	0	0.854111	0.99894	0	0.699908	0.69081	0	.	.	5.46	5.46	0.80021	7.386000	0.79041	7.908000	0.73883	0.660000	0.55035	1.000000	0.71638	0.994000	0.32194	0.732000	0.35165	0.0:0.0:0.0:1.0	15.005	0.71158	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1426.44	34	chr13	39047760	.	T	C	1426.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.134;DP=306;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.878;SOR=0.659	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1437,0,1388	6	0	1	0
chr13	39665124	39665124	T	C	exonic	COG6	.	nonsynonymous SNV	COG6:NM_001145079:exon4:c.T398C:p.I133T,COG6:NM_020751:exon4:c.T398C:p.I133T	Congenital disorder of glycosylation, type IIl, Autosomal recessive;Shaheen syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.0376945243607	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.0001358	21	154602	rs552900633	6.219e-05	6.644e-05	3.521e-05	8.902e-05	0.0009	5.144e-05	4.739e-05	0.0007	0.0007	0	0	0	0	0	0	7.795e-06	1.747e-05	0.0009	3.282e-05	3.281e-05	0	6.714e-05	0.0010	1.26e-05	7.97e-06	0.0004	0.0003	0	0	0	0	0	0	0	0	0	0.0010	0.001	0.78490	D	0.004	0.74150	D	0.734	0.42776	P	0.42	0.45080	B	0.000000	0.84330	D	0.040920	1	0.81001	D	2.865	0.83145	M	0.42	0.56937	T	-3.98	0.73788	D	0.916	0.91852	-0.6795	0.61396	T	0.208	0.56758	T	10	0.5275482	0.62996	D	0.037695	0.57774	D	0.469	0.76355	.	.	0.632812818788	0.62980	0.5015914082846489	0.50081	0.280073170933	0.30486	0.740190386772	0.73001	T	0.102317	0.40992	T	0.051536	0.58541	T	0.232429	0.84788	D	0.671059608459473	0.39385	D	0.907309	0.67223	D	0.6865166	0.77322	0.68193346	0.81307	0.6865166	0.77323	0.68193346	0.81308	-7.771	0.59499	D	0.6389999311004269	0.70943	0.823	0.78358	P	.;.	.;.	4.483676	0.69979	25.5	0.99799853878709477	0.88461	0.98334	0.81734	D	AEFBI	0.788581	0.71803	D	0.565928718256848	0.71057	5.593444	0.612702144986207	0.75862	6.386152	0.999999988466448	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.72	5.72	0.89380	7.186000	0.77262	7.864000	0.71599	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	14.824	0.69723	681	0.59854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	389.27	17	chr13	39665124	.	T	C	389.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.193;DP=139;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=0.673;SOR=0.715	GT:AD:DP:GQ:PL	0/1:17,17:34:99:399,0,395	5	0	1	1
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	365.36	37	chr13	42303096	.	G	C	365.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.49;DP=489;ExcessHet=0.3476;FS=224.175;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=1.99;SOR=7.7	GT:AD:DP:GQ:PL	0/1:81,14:98:79:79,0,3289	6	0	1	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	599.43	61	chr13	42303097	.	G	C	599.43	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.816;DP=548;ExcessHet=4.7409;FS=227.48;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.35;ReadPosRankSum=1.65;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,22:103:99:.:.:156,0,2597:.	2	0	5	0
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	257.6	65	chr13	48459808	.	T	C	257.6	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.879;DP=428;ExcessHet=3.1439;FS=244.247;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.1;SOR=9.044	GT:AD:DP:GQ:PL	0/1:82,29:111:27:27,0,1169	2	0	4	1
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	214.14	80	chr13	69882456	.	G	A	214.14	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.587;DP=670;ExcessHet=3.1439;FS=184.8;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.12;SOR=10.665	GT:AD:DP:GQ:PL	0/1:77,29:114:11:11,0,1207	2	0	4	1
chr13	69975774	69975774	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_020866:exon2:c.C526T:p.P176S	.	439	1071	12	0	0	12	0.00557103	.	.	.	2813925	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0186134777311	0.0046	0.00259585	0.0062	0.0010	0.0013	0	0.0041	0.0086	0.0055	0.0077	0.0059249	916	154602	rs35781936	0.0059	0.0059	0.0058	0.0061	0.0075	0.0058	0.0058	0.0071	0.0069	0.0009	0.0014	0.0037	5.076e-05	0.0044	0.0058	0.0065	0.0055	0.0075	0.0044	0.0044	0.0049	0.0039	0.0079	0.0042	0.0040	0.0066	0.0064	0.0011	0	0.0029	0.0049	0	0.0030	0.0136	0.0071	0.0047	0.0079	0.237	0.17881	T	0.808	0.03968	T	0.035	0.20614	B	0.01	0.14941	B	0.114898	0.19257	N	0.442920	0.500829	0.81001	D	1.5	0.37844	L	-0.48	0.70249	T	0.34	0.03824	N	0.15	0.15328	-0.9753	0.36059	T	0.140	0.45979	T	10	0.0050211847	0.00108	T	0.018613	0.40730	T	0.071	0.20720	.	.	0.744494723672	0.74219	0.3009362953873672	0.30006	0.0612629918304	0.06824	0.441181719303	0.30738	T	0.045091	0.27016	T	-0.500043	0.00571	T	-0.486208	0.23790	T	0.00255650706840089	0.00027	T	0.565643	0.19997	T	0.032078654	0.03165	0.057351395	0.10409	0.032078654	0.03164	0.057351395	0.10408	-3.074	0.11000	T	.	.	0.069	0.03231	B	.	.	1.169383	0.15592	11.96	0.66844114183205461	0.08178	0.87928	0.47641	D	AEFBI	0.315902	0.42034	N	-0.571769058665966	0.19806	1.039495	-0.402418453437752	0.24926	1.367759	0.800319672161777	0.24174	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.68	3.96	0.45097	1.714000	0.37580	3.853000	0.40098	-0.185000	0.09859	0.989000	0.36753	1.000000	0.68203	0.390000	0.26558	0.1443:0.0:0.8557:0.0	11.035	0.47010	948	0.11499	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.007049	0.000000	0.004076	0.005848	0.000000	0.000000	0.015244	0.011364	0.08333	947.27	33	chr13	69975774	.	G	A	947.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.261;DP=233;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=-1.007;SOR=0.657	GT:AD:DP:GQ:PL	0/1:34,39:73:99:957,0,802	5	0	1	1
chr13	101229452	101229452	T	C	exonic	NALCN	.	nonsynonymous SNV	NALCN:NM_001350750:exon12:c.A1480G:p.I494V,NALCN:NM_001350751:exon12:c.A1480G:p.I494V,NALCN:NM_001350748:exon13:c.A1567G:p.I523V,NALCN:NM_001350749:exon13:c.A1567G:p.I523V,NALCN:NM_052867:exon13:c.A1567G:p.I523V	Congenital contractures of the limbs and face, hypotonia, and developmental delay, Autosomal dominant;Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, Autosomal recessive	436	1083	3	0	0	3	0.00138313	.	.	.	688095	not_provided|NALCN-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.706	0.203082842531	0.0008	0.000998403	0.0009	9.636e-05	0.0002	0	0.0003	0.0008	0	0.0026	0.0008085	125	154602	rs150580612	0.0010	0.0010	0.0009	0.0010	0.0027	0.0009	0.0009	0.0024	0.0023	0.0003	0.0002	0.0018	0	7.503e-05	0.0010	0.0010	0.0005	0.0027	0.0007	0.0007	0.0007	0.0007	0.0039	0.0006	0.0005	0.0026	0.0021	0.0002	0	0.0007	0.0023	0	9.411e-05	0	0.0008	0.0014	0.0039	0.127	0.27080	T	0.059	0.45961	T	0.844	0.46645	P	0.487	0.47260	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-5.15	0.98780	D	-0.76	0.21215	N	0.298	0.33687	1.081	0.98897	D	0.948	0.98304	D	10	0.029141307	0.01042	T	0.203083	0.86856	D	0.706	0.89468	.	.	0.656282026865	0.65341	0.8310535477586223	0.83064	1.44831164804	0.86095	0.772632420063	0.77819	T	0.570596	0.85775	D	-0.0437868	0.45385	T	0.158779	0.80731	D	0.0782595872879028	0.09763	T	0.859414	0.55137	D	0.4287164	0.62668	0.18756512	0.41996	0.4287164	0.62668	0.18756512	0.41996	-6.254	0.48357	T	0.1940211725228592	0.25550	0.085	0.10014	B	.	.	2.763301	0.36248	20.2	0.99908907371128663	0.97875	0.94094	0.60094	D	AEFCI	0.825769	0.74539	D	0.460024203052514	0.64773	4.739669	0.482445924414965	0.66829	5.003072	0.999999993106766	0.74766	0.638212	0.43195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.668105	0.65232	0	.	.	5.11	5.11	0.69188	5.773000	0.68552	2.847000	0.35116	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0:0.0:1.0	15.204	0.72849	860	0.33753	Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.07143	959.63	31	chr13	101229452	.	T	C	959.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.474;DP=254;ExcessHet=0;FS=3.028;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.123;SOR=0.422	GT:AD:DP:GQ:PL	0/1:35,44:79:99:970,0,788	6	0	1	0
chr13	102732356	102732356	C	T	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G18341A:p.R6114H	.	.	.	.	.	.	.	.	.	.	.	2355293	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0165698795048	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs530835241	5.432e-05	5.267e-05	4.513e-05	6.376e-05	0.0002	4.449e-05	4.062e-05	5.829e-05	4.355e-05	9.501e-05	8.403e-05	0	0	0	0.0002	4.728e-05	0.0002	0.0001	4.6e-05	4.594e-05	3.857e-05	5.376e-05	0.0002	2.109e-05	1.527e-05	2.848e-05	1.859e-05	2.407e-05	0	0	0	0	0	0	7.355e-05	0	0.0002	.	.	.	0.14	0.33554	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.14	0.13911	-0.8997	0.48024	T	0.005	0.01797	T	9	0.03232053	0.01381	T	0.01657	0.37889	T	0.016	0.02506	.	.	0.0138822411134	0.00435	0.01608889235796548	0.01564	.	.	0.204745978117	0.00608	T	.	.	.	-0.565139	0.00236	T	-0.812891	0.01601	T	0.00702313613146544	0.00080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06341	B	.	.	-0.760871	0.01187	0.058	0.79451589481355434	0.12748	0.00276	0.01495	N	AEFGBI	0.015563	0.00303	N	-1.68626950514119	0.00892	0.03858928	-1.7599186344007	0.00896	0.04008112	0.99978594866446	0.43007	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.31	-5.62	0.02284	-2.696000	0.00898	-10.493000	0.00695	-0.919000	0.02208	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.6685:0.0:0.3315	10.878	0.46131	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002994	0.000000	0.011111	0.000000	0.000000	0.000000	0.000000	0.015152	0.07143	1597.63	61	chr13	102732356	.	C	T	1597.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.08;DP=384;ExcessHet=0;FS=1.497;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.26;ReadPosRankSum=-0.228;SOR=0.556	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1608,0,1271	6	0	1	0
chr13	103052637	103052637	C	T	exonic	SLC10A2	.	nonsynonymous SNV	SLC10A2:NM_000452:exon3:c.G568A:p.A190T	Bile acid malabsorption, primary, Autosomal recessive	5	1514	2	1	0	4	0.00131926	.	.	.	1885080	SLC10A2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.244	0.0123361524902	.	.	7.422e-05	0	0	0	0	0.0001	0	6.061e-05	6.47e-05	10	154602	rs200735895	4.871e-05	4.926e-05	4.234e-05	5.513e-05	0.0009	3.937e-05	3.615e-05	0.0003	0.0002	0	0	0	0	0	0.0009	5.053e-05	6.641e-05	6.964e-05	3.288e-05	3.284e-05	0	6.732e-05	7.351e-05	1.262e-05	7.98e-06	2.847e-05	1.858e-05	0	0	0	0	0	0	0	7.351e-05	0	0	0.003	0.68238	D	0.105	0.38016	T	0.887	0.48784	P	0.854	0.60866	P	0.000003	0.62929	D	0.104290	0.999986	0.54805	D	1.97	0.53315	M	2.76	0.11515	T	-2.78	0.58896	D	0.862	0.85872	-1.2148	0.00069	T	0.072	0.29163	T	10	0.86253	0.85480	D	0.012336	0.30825	T	0.244	0.55061	0.71	0.84601	0.480198768302	0.47651	0.9873658470578447	0.98730	0.0171929848995	0.01662	0.567631661892	0.48343	T	0.181954	0.53380	T	-0.0793211	0.39826	T	-0.126014	0.61305	T	0.499628156423569	0.32615	T	0.89971	0.64861	D	0.49504438	0.66803	0.5312115	0.72913	0.49504438	0.66803	0.5312115	0.72913	-6.744	0.52141	T	0.4058871147362989	0.49698	0.611	0.69345	P	.	.	4.963777	0.82096	27.7	0.99898940197573249	0.97124	0.97671	0.76304	D	AEFI	0.713630	0.66637	D	0.664725608589518	0.77325	6.653075	0.686933989963111	0.81384	7.514516	0.999989299004495	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.62	5.62	0.85714	6.283000	0.72672	7.617000	0.62147	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.668	0.95895	925	0.17918	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1235.63	33	chr13	103052637	.	C	T	1235.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.59;DP=293;ExcessHet=0;FS=2.341;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.189;SOR=0.492	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1246,0,1485	6	0	1	0
chr14	20377611	20377611	T	C	exonic	TEP1	.	nonsynonymous SNV	TEP1:NM_001319035:exon38:c.A5540G:p.K1847R,TEP1:NM_007110:exon40:c.A5864G:p.K1955R	.	410	1084	27	1	0	29	0.0131998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0166966968595	0.0021	0.00159744	0.0028	0.0010	0.0030	0	0.0011	0.0037	0.0033	0.0022	0.0027102	419	154602	rs34895824	0.0028	0.0028	0.0028	0.0028	0.0135	0.0027	0.0027	0.0111	0.0102	0.0009	0.0032	0.0027	0	0.0011	0.0135	0.0029	0.0037	0.0024	0.0021	0.0021	0.0021	0.0020	0.0032	0.0019	0.0018	0.0028	0.0027	0.0007	0	0.0022	0.0043	0	0.0005	0.0068	0.0032	0.0024	0.0025	0.62	0.05808	T	0.931	0.02786	T	0.0	0.02946	B	0.0	0.04355	B	0.285065	0.14873	N	0.672864	0.999993	0.08975	N	-0.635	0.02130	N	0.68	0.70365	T	-0.27	0.11366	N	0.187	0.22228	-0.9518	0.40660	T	0.080	0.31615	T	10	0.0056263506	0.00125	T	0.016697	0.38080	T	0.079	0.23065	.	.	0.32082282376	0.31691	0.21480877555315284	0.21396	0.0878513026773	0.09920	0.225775882602	0.01670	T	0.057569	0.30604	T	-0.530939	0.00379	T	-0.537223	0.18570	T	0.00435242112383555	0.00046	T	0.60194	0.22516	T	0.0279666	0.02064	0.03470268	0.02585	0.0279666	0.02063	0.03470268	0.02585	-1.84	0.02631	T	.	.	0.066	0.02091	B	.;.	.;.	0.176948	0.05651	2.101	0.89923003686189484	0.19221	0.00988	0.03756	N	AEFDBI	0.032231	0.03598	N	-1.4550496212612	0.02177	0.09585517	-1.46142780822032	0.02668	0.1231468	0.99997061302136	0.50053	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.33	-8.8	0.00705	-0.116000	0.10697	-1.813000	0.04679	0.665000	0.62972	0.003000	0.16062	0.000000	0.08366	0.987000	0.62547	0.0:0.5529:0.3084:0.1387	10.291	0.42780	929	0.16858	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.005051	0.013587	0.008772	0.000000	0.017241	0.006098	0.003788	0.07143	2221.44	34	chr14	20377611	.	T	C	2221.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.171;DP=353;ExcessHet=0;FS=0.592;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.33;ReadPosRankSum=0.138;SOR=0.715	GT:AD:DP:GQ:PL	0/1:71,84:155:99:2232,0,1834	6	0	1	0
chr14	24300433	24300433	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G273C:p.K91N,NOP9:NM_174913:exon2:c.G273C:p.K91N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00580395549189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.58e-05	0.0007	1.504e-05	1.656e-05	5.994e-05	1.052e-05	8.79e-06	1.219e-05	1.035e-05	5.994e-05	0	0	0	0	0	1.897e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.24857	T	0.136	0.34009	T	0.969	0.56768	D	0.821	0.59116	P	0.002487	0.36462	N	0.265343	0.610881	0.32620	D	2.4	0.69460	M	2.46	0.14907	T	-0.64	0.18670	N	0.442	0.50146	-1.0133	0.25880	T	0.056	0.23677	T	10	0.25542066	0.42934	T	0.005804	0.15072	T	0.091	0.26358	0.435	0.48664	0.390687800842	0.38684	0.2418240473274099	0.24096	0.668619433952	0.59308	0.650323867798	0.60032	T	0.033914	0.23108	T	-0.195226	0.21496	T	-0.518205	0.20478	T	0.756082832813263	0.43628	D	.	.	.	0.10372222	0.24517	0.11207933	0.27041	0.10372222	0.24517	0.11207933	0.27040	-5.696	0.46679	T	.	.	0.479	0.67462	A	.;.	.;.	2.802256	0.36869	20.4	0.99664447895021979	0.78138	0.59022	0.30801	D	AEFDGBHCI	0.149870	0.27405	N	0.199911004870865	0.51195	3.302748	0.143387463339738	0.46792	2.919509	0.999988200241143	0.51787	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	1.24	0.20416	0.649000	0.24529	2.961000	0.35756	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.4088:0.1462:0.445:0.0	4.937	0.13295	867	0.32089	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	85.45	36	chr14	24300433	.	G	C	85.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.73;DP=324;ExcessHet=0;FS=77.931;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.67;ReadPosRankSum=1.25;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,16:128:96:0|1:24300433_G_C:96,0,4509:24300433	6	0	1	0
chr14	24300434	24300434	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G274C:p.E92Q,NOP9:NM_174913:exon2:c.G274C:p.E92Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.0124761507471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.058e-06	0.0003	1.365e-06	2.757e-06	2.707e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.15149	T	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	2.585	0.75554	M	2.44	0.15145	T	0.34	0.04533	N	0.645	0.70439	-1.1301	0.01777	T	0.078	0.31193	T	10	0.8152855	0.80773	D	0.012476	0.31090	T	0.229	0.52916	0.751	0.88155	0.508755544265	0.50514	0.5357599337425957	0.53500	0.807762257892	0.66579	0.542344510555	0.44777	T	0.047029	0.27602	T	-0.0927803	0.37617	T	-0.371049	0.36766	T	0.948966205120087	0.63009	D	.	.	.	0.4762171	0.65670	0.2750293	0.53436	0.4762171	0.65670	0.2750293	0.53435	-5.321	0.40150	T	.	.	0.675	0.71957	P	.;.	.;.	4.899164	0.80508	27.3	0.9963079446719727	0.76020	0.87812	0.47481	D	AEFDGBHCI	0.550752	0.56310	D	0.586330320866806	0.72322	5.787323	0.606648110977027	0.75423	6.307655	0.999999999957369	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	5.05	0.67566	5.311000	0.65574	11.771000	0.95863	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.340	0.87180	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	70.45	36	chr14	24300434	.	G	C	70.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.362;DP=341;ExcessHet=0;FS=78.999;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.37;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,16:133:81:0|1:24300433_G_C:81,0,4690:24300433	6	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	491.91	45	chr14	24300437	.	G	C	491.91	.	AC=2;AF=0.2;AN=10;BaseQRankSum=-3.856;DP=547;ExcessHet=0.3476;FS=538.551;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=2.72;ReadPosRankSum=0.972;SOR=8.813	GT:AD:DP:GQ:PL	0/1:91,37:128:99:445,0,2072	3	0	2	2
chr14	24300438	24300438	T	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.T278C:p.V93A,NOP9:NM_174913:exon2:c.T278C:p.V93A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00437975501723	.	.	8.732e-06	0	0	0	0	1.593e-05	0	0	6.5e-06	1	154602	rs776509560	6.857e-07	0.0001	1.365e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.021	0.58089	D	0.004	0.12183	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996815	0.43435	D	2.585	0.75554	M	2.58	0.13434	T	-1.91	0.44471	N	0.158	0.22228	-1.0562	0.12724	T	0.025	0.10821	T	10	0.1992108	0.35922	T	0.00438	0.10687	T	0.058	0.16647	0.699	0.83592	0.202086224978	0.19791	0.4326649708647601	0.43183	0.293728836784	0.31792	0.537159740925	0.44045	T	0.043603	0.26553	T	-0.169471	0.25316	T	-0.48121	0.24317	T	0.535576939582825	0.33940	D	.	.	.	0.17249486	0.37943	0.22838518	0.47878	0.17249486	0.37943	0.22838518	0.47877	-3.105	0.11353	T	.	.	0.166	0.36535	B	.;.	.;.	2.098732	0.26700	17.21	0.99590042639475562	0.73572	0.51292	0.28862	D	AEFDGBHCI	0.087342	0.17709	N	-0.367403661139306	0.26638	1.455306	-0.204757657677304	0.31364	1.774356	0.999998714659871	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	3.91	0.44383	0.695000	0.25205	1.170000	0.24618	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.1703:0.0:0.8297	7.771	0.28173	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	49.45	69	chr14	24300438	.	T	C	49.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.168;DP=639;ExcessHet=0;FS=74.591;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.52;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,16:140:60:0|1:24300433_G_C:60,0,5019:24300433	6	0	1	0
chr14	24300440	24300440	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G280C:p.E94Q,NOP9:NM_174913:exon2:c.G280C:p.E94Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00412363107028	.	.	.	.	.	.	.	.	.	.	.	.	.	rs185864031	6.843e-07	2.052e-05	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.24564	T	0.455	0.12776	T	0.188	0.29318	B	0.093	0.30104	B	0.000313	0.45977	D	0.187178	0.571431	0.32297	D	1.85	0.49092	L	2.51	0.14284	T	-0.66	0.19085	N	0.191	0.38438	-1.0353	0.18762	T	0.023	0.09696	T	10	0.1599716	0.30043	T	0.004124	0.09869	T	0.033	0.08068	0.499	0.58991	0.322230723748	0.31824	0.255152260406516	0.25429	0.330304757815	0.35118	0.574976623058	0.49380	T	0.019978	0.15815	T	-0.182995	0.23292	T	-0.500636	0.22282	T	0.675508379936218	0.39584	D	.	.	.	0.17322882	0.38059	0.08973655	0.21001	0.17322882	0.38059	0.08973655	0.21001	-2.426	0.06466	T	.	.	0.139	0.31431	B	.;.	.;.	3.056306	0.41027	21.3	0.95279133588078557	0.26571	0.70917	0.34791	D	AEFDGBHCI	0.245835	0.36670	N	-0.200592476270587	0.33109	1.874788	-0.0452276382921033	0.37696	2.210766	0.999999415166122	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.16	0.48138	2.675000	0.46541	9.863000	0.82071	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0853:0.159:0.7557:0.0	8.177	0.30448	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.45	69	chr14	24300440	.	G	C	46.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.401;DP=640;ExcessHet=0;FS=75.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.75;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,16:141:57:0|1:24300433_G_C:57,0,5043:24300433	6	0	1	0
chr14	24300442	24300442	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G282C:p.E94D,NOP9:NM_174913:exon2:c.G282C:p.E94D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00531892314922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.081	0.41742	T	0.72	0.42342	P	0.35	0.42815	B	0.000313	0.45977	D	0.187178	0.900972	0.27701	N	2.4	0.69460	M	2.49	0.14531	T	-1.42	0.34992	N	0.329	0.36989	-1.0563	0.12698	T	0.030	0.13067	T	10	0.18962675	0.34571	T	0.005319	0.13618	T	0.053	0.14996	0.527	0.63263	0.337135696972	0.33324	0.2960366301804945	0.29516	0.341977784689	0.36137	0.58951985836	0.51426	T	0.041301	0.25814	T	-0.20581	0.19972	T	-0.533408	0.18948	T	0.897427260875702	0.54933	D	.	.	.	0.16601901	0.36911	0.17192636	0.39411	0.16601901	0.36910	0.17192636	0.39411	-4.434	0.32769	T	.	.	0.397	0.60210	A	.;.	.;.	1.825097	0.23188	15.92	0.99724221531387924	0.82266	0.20248	0.20970	N	AEFDGBHCI	0.087307	0.17703	N	-0.25025929868107	0.31092	1.740072	-0.271232583932466	0.29050	1.624519	0.999993027687183	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	2.24	0.27264	0.049000	0.13983	1.689000	0.28059	0.676000	0.76740	0.042000	0.21073	0.930000	0.28522	0.982000	0.59238	0.3297:0.0:0.6703:0.0	8.322	0.31295	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	46.46	69	chr14	24300442	.	G	C	46.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.136;DP=641;ExcessHet=0;FS=75.114;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=0.33;ReadPosRankSum=1.86;SOR=5.667	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,16:141:57:0|1:24300433_G_C:57,0,5043:24300433	6	0	1	0
chr14	55351057	55351057	G	A	exonic	FBXO34	.	nonsynonymous SNV	FBXO34:NM_017943:exon2:c.G667A:p.A223T,FBXO34:NM_152231:exon2:c.G667A:p.A223T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0136017871865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.219	0.25987	T	0.986	0.61523	D	0.775	0.57058	P	0.956314	0.07689	N	1.022250	0.979466	0.25180	N	2.095	0.58118	M	0.89	0.45636	T	-0.98	0.25986	N	0.175	0.20793	-0.7998	0.55156	T	0.221	0.58485	T	10	0.31112334	0.48584	T	0.013602	0.33126	T	0.150	0.39571	0.196	0.10839	0.719817184352	0.71735	0.11182629448481363	0.11111	0.578813786062	0.53776	0.459347873926	0.33221	T	0.004689	0.04103	T	-0.0797675	0.39753	T	-0.352357	0.38936	T	0.821350038051605	0.47873	D	0.829317	0.49436	T	0.08618775	0.20023	0.09718504	0.23121	0.08618775	0.20023	0.09718504	0.23121	-4.123	0.25628	T	.	.	0.106	0.20547	B	.;.	.;.	3.830231	0.55357	23.6	0.98648150165096837	0.44151	0.96968	0.71932	D	AEFDBI	0.279692	0.39368	N	0.545043245402962	0.69781	5.405954	0.522244916929451	0.69488	5.367752	0.999746744278923	0.42466	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	5.919000	0.69736	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.787000	0.37188	0.0:0.0:1.0:0.0	17.725	0.88270	516	0.74704	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1304.44	49	chr14	55351057	.	G	A	1304.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.998;DP=472;ExcessHet=0;FS=1.637;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-0.079;SOR=0.5	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1315,0,1641	6	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	137.24	17	chr14	58213644	.	T	C	137.24	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.517;DP=189;ExcessHet=1.383;FS=173.983;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=2.35;SOR=7.378	GT:AD:DP:GQ:PL	0/1:29,12:41:22:22,0,477	3	0	3	1
chr14	59870504	59870504	G	C	exonic	RTN1	.	nonsynonymous SNV	RTN1:NM_021136:exon1:c.C127G:p.Q43E	.	412	1109	0	1	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0588604148834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.645	0.06859	T	0.039	0.21116	B	0.009	0.14300	B	0.101351	0.02550	U	2.306010	1	0.08975	N	1.355	0.33814	L	1.7	0.26885	T	-0.03	0.07444	N	0.086	0.06322	-1.0252	0.22017	T	0.040	0.17404	T	10	0.07765719	0.12281	T	0.05886	0.67466	D	0.033	0.08068	0.1	0.01484	0.082315109003	0.07666	0.07646811690165055	0.07582	0.119333337301	0.13438	0.608658134937	0.54125	T	0.004939	0.04364	T	-0.270232	0.11732	T	-0.625946	0.10725	T	0.462695688009262	0.31264	T	0.528747	0.17479	T	0.22062674	0.44622	0.24659105	0.50172	0.22062674	0.44622	0.24659105	0.50171	-2.293	0.04517	T	.	.	0.065	0.01960	B	.	.	1.658334	0.21151	15.07	0.98380959594243	0.40853	0.10753	0.16168	N	AEFDGBCI	0.034930	0.04411	N	-0.950715771991309	0.09677	0.4590206	-0.958058264078194	0.10737	0.542665	0.99998187900091	0.51787	0.56387	0.32371	0	0.491552	0.07993	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	3.31	2.37	0.28337	0.927000	0.28418	3.543000	0.39013	0.660000	0.55035	0.148000	0.23625	0.558000	0.25505	0.151000	0.20341	0.0:0.2414:0.7586:0.0	8.434	0.31936	548	0.72362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	320.63	22	chr14	59870504	.	G	C	320.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.987;DP=177;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=0.25;SOR=0.818	GT:AD:DP:GQ:PL	0/1:20,15:35:99:331,0,524	6	0	1	0
chr14	64468680	64468680	A	C	exonic	AKAP5	.	nonsynonymous SNV	AKAP5:NM_004857:exon2:c.A286C:p.K96Q	.	429	1089	4	0	0	4	0.00183318	.	.	.	3266623	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.0167935807874	.	.	8.318e-06	0	0	0	0	0	0	6.075e-05	6.5e-06	1	154602	rs748640939	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0010	2.9e-06	2.1e-06	0.0005	0.0003	0	0	0	0	0	0.0010	1.799e-06	0	1.159e-05	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.17e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.129	0.26852	T	0.208	0.26883	T	0.916	0.50672	P	0.49	0.47330	P	0.008712	0.30705	N	0.226256	1	0.81001	D	2.045	0.56016	M	0.82	0.48142	T	-2.12	0.48184	N	0.221	0.24758	-1.0479	0.14988	T	0.096	0.36133	T	10	0.24865171	0.42165	T	0.016794	0.38210	T	0.059	0.16972	0.36	0.36385	0.820539480482	0.81884	0.055661323220693525	0.05507	0.752588168711	0.63847	0.324133396149	0.14046	T	0.406489	0.76237	T	-0.221754	0.17756	T	-0.455681	0.27070	T	0.377726644277573	0.28095	T	0.607939	0.22935	T	0.24879816	0.47870	0.12459999	0.30031	0.24879816	0.47870	0.12459999	0.30030	-3.75	0.20059	T	.	.	0.129	0.29311	B	.;.	.;.	2.770949	0.36375	20.2	0.98079137578421383	0.38094	0.46466	0.27766	N	AEFDGBI	0.074649	0.14969	N	-0.240208054082362	0.31496	1.766635	-0.298677328052469	0.28143	1.566768	0.999984314361247	0.51787	0.653281	0.48532	0	0.659037	0.61890	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.58	3.16	0.35406	0.733000	0.25754	6.132000	0.53930	0.756000	0.94297	0.680000	0.28438	1.000000	0.68203	0.049000	0.15107	0.7626:0.1601:0.0773:0.0	7.143	0.24743	399	0.82780	Protein kinase A anchoring, WSK motif;Protein kinase A anchoring, WSK motif	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1186.27	34	chr14	64468680	.	A	C	1186.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.6;DP=248;ExcessHet=0;FS=7.461;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-1.322;SOR=1.034	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1196,0,842	5	0	1	1
chr14	73612782	73612782	A	G	exonic	ACOT6	.	nonsynonymous SNV	ACOT6:NM_001365788:exon1:c.A211G:p.S71G	.	460	214	444	380	24	1228	0.737745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00559105	.	.	.	.	.	.	.	.	0.0083756	218	26028	rs12587206	0.0091	0.0085	0.0090	0.0092	0.0153	0.0089	0.0089	0.0122	0.0115	0.0013	0.0140	0.0183	0	0.0010	0.0153	0.0098	0.0088	0.0035	0.0078	0.0078	0.0079	0.0076	0.0164	0.0074	0.0073	0.0148	0.0141	0.0019	0.0110	0.0164	0.0161	0.0002	0.0006	0.0103	0.0111	0.0100	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008038133	0.00182	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.924308	0.72323	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33319	B	.	.	4.117408	0.61514	24.3	0.709540416775163	0.09466	0.63410	0.32081	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999999872	0.74766	0.166803	0.03914	0	0.160126	0.03863	0	0.064036	0.01829	0	0.054758	0.00131	0	0.314155	0.35256	3.55	3.55	0.39770	1.853000	0.38998	5.725000	0.49491	0.680000	0.82399	0.955000	0.33325	1.000000	0.68203	0.491000	0.28814	0.7994:0.0:0.2005:0.0	6.141	0.19474	269	0.89438	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1768.34	8	chr14	73612782	.	A	G	1768.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.143;DP=94;ExcessHet=0.0921;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=21.57;ReadPosRankSum=0.669;SOR=0.754	GT:AD:DP:GQ:PL	1/1:0,17:17:51:477,51,0	6	1	0	0
chr14	76154637	76154637	A	G	exonic	GPATCH2L	.	nonsynonymous SNV	GPATCH2L:NM_017972:exon1:c.A274G:p.M92V,GPATCH2L:NM_001322026:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322027:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322028:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322029:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322030:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322031:exon2:c.A274G:p.M92V,GPATCH2L:NM_001322032:exon2:c.A274G:p.M92V,GPATCH2L:NM_017926:exon2:c.A274G:p.M92V	.	430	1087	5	0	0	5	0.00229463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00344021711396	0.0026	0.000399361	0.0033	0.0004	0.0008	0	0.0094	0.0048	0.0011	0.0006	0.003247	502	154602	rs149688470	0.0034	0.0034	0.0035	0.0032	0.0038	0.0033	0.0032	0.0037	0.0036	0.0004	0.0007	0.0011	0	0.0082	0.0012	0.0038	0.0023	0.0008	0.0027	0.0027	0.0025	0.0028	0.0038	0.0024	0.0024	0.0034	0.0033	0.0007	0	0.0010	0.0014	0	0.0087	0	0.0038	0.0009	0.0006	0.283	0.15354	T	0.168	0.30631	T	0.0	0.02946	B	0.0	0.01387	B	0.063322	0.22033	N	0.495587	1	0.08975	N	0.345	0.11182	N	0.99	0.42122	T	-2.53	0.54864	D	0.036	0.01274	-1.0031	0.29021	T	0.042	0.18035	T	10	0.003522098	0.00063	T	0.00344	0.07755	T	0.068	0.19811	.	.	0.209943299407	0.20609	0.09267352598221008	0.09199	0.266040754253	0.29149	0.266507744789	0.05690	T	0.091796	0.38871	T	-0.648783	0.00074	T	-0.700982	0.05773	T	0.00775653519711406	0.00091	T	0.782022	0.41734	T	0.044192888	0.07020	0.052467126	0.08650	0.044192888	0.07020	0.052467126	0.08650	-0.944	0.00992	T	.	.	0.050	0.00191	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.462952	0.08328	5.076	0.79342636390797827	0.12699	0.10129	0.15720	N	AEFDGBCI	0.047115	0.07899	N	-0.912280551624826	0.10554	0.5048776	-0.793050357247157	0.14666	0.7674522	0.999925499537747	0.46280	0.722319	0.85440	0	0.672317	0.65289	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	5.37	1.56	0.22423	-0.045000	0.11957	0.231000	0.16190	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.997000	0.79791	0.4464:0.2621:0.2915:0.0	5.206	0.14614	626	0.65439	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	1781.44	33	chr14	76154637	.	A	G	1781.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.009;DP=327;ExcessHet=0;FS=3.883;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=-0.574;SOR=1.018	GT:AD:DP:GQ:PL	0/1:76,72:148:99:1792,0,1915	6	0	1	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N,NRXN3:NM_001366425:exon4:c.G749A:p.S250N,NRXN3:NM_001366426:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	179.76	98	chr14	78297852	.	G	A	179.76	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.871;DP=784;ExcessHet=3.1439;FS=249.645;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=0.689;SOR=10.919	GT:AD:DP:GQ:PL	0/1:95,40:143:44:44,0,1370	2	0	4	1
chr14	89953914	89953914	G	A	exonic	EFCAB11	.	nonsynonymous SNV	EFCAB11:NM_001284266:exon2:c.C163T:p.P55S,EFCAB11:NM_001284267:exon2:c.C19T:p.P7S,EFCAB11:NM_001284268:exon2:c.C91T:p.P31S,EFCAB11:NM_001284269:exon2:c.C91T:p.P31S,EFCAB11:NM_145231:exon2:c.C163T:p.P55S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0540513151503	.	.	3.304e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs753215655	2.053e-05	2.121e-05	1.362e-05	2.752e-05	0.0002	1.457e-05	1.264e-05	0.0001	0.0001	0	2.237e-05	0	0	0	0	1.079e-05	0	0.0002	1.314e-05	1.313e-05	0	2.691e-05	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.083	0.33091	T	0.407	0.27145	T	0.997	0.70673	D	0.861	0.62758	P	0.000029	0.55875	D	0.071292	0.999995	0.81001	D	2.555	0.74557	M	1.84	0.69896	T	-6.4	0.92476	D	0.439	0.48780	0.131	0.84724	D	0.537	0.82887	D	10	0.37422943	0.53708	T	0.054051	0.65709	D	0.405	0.71791	0.566	0.68768	0.900847592122	0.89986	0.7736344208438598	0.77313	0.299086279298	0.32277	0.517496228218	0.41273	T	0.119218	0.44059	T	-0.118729	0.33332	T	-0.116174	0.62115	T	0.614480053146061	0.36981	D	0.844815	0.55914	T	0.3268904	0.55216	0.5020357	0.71214	0.3268904	0.55216	0.5020357	0.71214	-10.061	0.75377	D	.	.	0.944	0.86333	P	.;.;.;.;.	.;.;.;.;.	5.177318	0.86797	29.0	0.99883259435274541	0.95892	0.92595	0.56081	D	AEFBHCI	0.947267	0.95763	D	0.906480910837344	0.92073	11.21877	0.887358964334219	0.94999	13.22143	0.999999999999376	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.627883	0.49187	0	.	.	5.8	5.8	0.92081	7.595000	0.81968	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.055	0.97644	960	0.08626	EF-hand domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	859.29	16	chr14	89953914	.	G	A	859.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.747;DP=175;ExcessHet=0.3476;FS=2.044;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0;SOR=0.472	GT:AD:DP:GQ:PL	0/1:23,25:48:99:576,0,544	5	0	2	0
chr14	90301265	90301265	C	T	exonic	NRDE2	.	nonsynonymous SNV	NRDE2:NM_017970:exon7:c.G1519A:p.V507M	.	428	1069	25	0	0	25	0.011558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0051	0.00479233	0.0047	0.0011	0.0029	0	0.0012	0.0062	0.0077	0.0063	0.004683	724	154602	rs79341977	0.0063	0.0063	0.0062	0.0064	0.0073	0.0062	0.0061	0.0072	0.0071	0.0012	0.0029	3.828e-05	7.557e-05	0.0006	0.0054	0.0073	0.0054	0.0057	0.0041	0.0041	0.0045	0.0038	0.0072	0.0039	0.0038	0.0067	0.0065	0.0015	0	0.0027	0	0	0.0003	0	0.0072	0.0014	0.0054	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000001	0.84330	D	0.000000	0.999999	0.58761	D	2.435	0.70606	M	1.31	0.35405	T	-0.86	0.36385	N	0.676	0.68342	-0.7888	0.55800	T	0.160	0.49463	T	10	0.008894891	0.00201	T	.	.	.	0.287	0.60574	.	.	0.647120189699	0.64419	0.5391645190508904	0.53841	0.396982738473	0.40801	0.526302278042	0.42514	T	0.01487	0.12581	T	-0.28588	0.10053	T	-0.178296	0.56681	T	0.0269564637618081	0.01537	T	0.956304	0.86183	D	0.17649929	0.38565	0.16566095	0.38311	0.17649929	0.38565	0.16566095	0.38311	-8.343	0.63384	D	.	.	0.259	0.53868	B	.;.	.;.	3.938548	0.57613	23.9	0.99892803870728586	0.96666	0.97628	0.76007	D	AEFDBCI	0.536387	0.55462	D	0.33904798678388	0.58165	3.987117	0.288415224318062	0.54861	3.650076	0.999999938239116	0.74766	0.660377	0.49826	0	0.653731	0.59785	0	0.696353	0.63694	0	0.662433	0.64102	0	.	.	5.8	4.91	0.63897	4.727000	0.61687	4.802000	0.44976	-0.187000	0.09635	1.000000	0.71638	1.000000	0.68203	0.170000	0.20979	0.0:0.873:0.127:0.0	17.052	0.86394	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002554	0.000000	0.000000	0.000000	0.000000	0.000000	0.009615	0.007634	0.1429	2276.25	41	chr14	90301265	.	C	T	2276.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.637;DP=296;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=16.03;ReadPosRankSum=-0.145;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,42:89:99:0|1:90301263_C_T:1013,0,1125:90301263	5	0	2	0
chr14	92439379	92439379	C	G	exonic	SLC24A4	.	nonsynonymous SNV	SLC24A4:NM_153646:exon4:c.C363G:p.F121L,SLC24A4:NM_153648:exon4:c.C171G:p.F57L,SLC24A4:NM_001378620:exon5:c.C363G:p.F121L,SLC24A4:NM_153647:exon5:c.C363G:p.F121L	Amelogenesis imperfecta, type IIA5, Autosomal recessive	412	1104	6	0	0	6	0.00271003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0280850414264	.	.	1.647e-05	0	8.637e-05	0	0	0	0	6.057e-05	1.29e-05	2	154602	rs750051961	1.985e-05	2.052e-05	8.173e-06	3.165e-05	0.0009	1.393e-05	1.204e-05	0.0003	0.0002	0	0	0	0	0	0.0009	7.2e-06	6.632e-05	0.0001	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.004	0.72154	D	0.005	0.76473	D	0.846	0.49442	P	0.557	0.55393	P	0.000000	0.84330	D	0.048930	0.999985	0.58761	D	1.24	0.30952	L	0.05	0.61923	T	-4.6	0.83224	D	0.792	0.86618	-0.9508	0.40833	T	0.153	0.48326	T	10	0.56705123	0.65109	D	0.028085	0.50815	D	0.345	0.66676	0.557	0.67547	0.836904385497	0.83534	0.7784795940673612	0.77797	0.786014294161	0.65511	0.889759421349	0.95230	D	0.446201	0.78893	T	-0.0188773	0.49012	T	-0.0622384	0.66176	T	0.763516187667847	0.44055	D	0.949505	0.80559	D	0.68194836	0.77074	0.59729415	0.76615	0.68194836	0.77076	0.59729415	0.76616	-11.875	0.84724	D	.	.	0.994	0.95199	P	.;.;.;.	.;.;.;.	4.847106	0.79187	27.1	0.99858324144011468	0.93729	0.97210	0.73340	D	AEFDBI	0.776136	0.70934	D	0.0549498513712335	0.44370	2.712352	0.133008469771193	0.46248	2.873875	0.999999999986255	0.74766	0.487112	0.14033	0	0.491513	0.07743	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.27	4.39	0.52211	4.049000	0.57110	3.291000	0.37306	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.843000	0.39806	0.0:0.927:0.0:0.073	14.010	0.64009	460	0.78750	.;.;Sodium/calcium exchanger membrane region;Sodium/calcium exchanger membrane region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1402.44	34	chr14	92439379	.	C	G	1402.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.347;DP=321;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.29;SOR=0.656	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1413,0,1479	6	0	1	0
chr14	92941893	92941893	C	T	exonic	ITPK1	.	nonsynonymous SNV	ITPK1:NM_001363707:exon9:c.G556A:p.V186M,ITPK1:NM_001142593:exon11:c.G913A:p.V305M,ITPK1:NM_014216:exon11:c.G913A:p.V305M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405	0.0109078414012	0.0002	.	3.887e-05	0.0001	0	0	0	5.272e-05	0	0	3.88e-05	6	154602	rs150211524	2.809e-05	2.805e-05	2.59e-05	3.03e-05	5.042e-05	2.09e-05	1.881e-05	2.371e-05	2.104e-05	0	0	0	5.042e-05	0	0	3.238e-05	3.314e-05	1.163e-05	4.595e-05	4.593e-05	5.139e-05	4.027e-05	7.351e-05	2.107e-05	1.526e-05	2.847e-05	1.858e-05	2.405e-05	0	0	0.0003	0	0	0	7.351e-05	0	0	0.086	0.39820	T	0.08	0.45961	T	1.0	0.90584	D	0.939	0.67449	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.085	0.27262	L	.	.	.	-1.22	0.35991	N	0.674	0.72031	-0.7034	0.60275	T	0.240	0.60762	T	9	0.6039257	0.67067	D	0.010908	0.27979	T	0.405	0.71791	.	.	0.373217324921	0.36936	0.8352184594217053	0.83481	0.926036099854	0.71641	0.689781904221	0.65674	T	0.184179	0.53676	T	-0.0183813	0.49085	T	-0.0645076	0.66016	T	0.552820026874542	0.34583	D	.	.	.	0.36285135	0.58052	0.25096673	0.50698	0.36285135	0.58053	0.25096673	0.50697	-11.133	0.80382	D	.	.	0.728	0.75652	P	.;.;.	.;.;.	5.415830	0.90635	31	0.99720593741260821	0.81984	0.99595	0.97811	D	AEFDBI	0.961856	0.98325	D	0.478183523521987	0.65818	4.87057	0.490394129076051	0.67352	5.072485	0.999999999999991	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.554053	0.18673	1	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	7.552000	0.81138	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:1.0:0.0:0.0	17.42	0.87404	906	0.23090	ATP-grasp fold;ATP-grasp fold;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	1700.92	26	chr14	92941893	.	C	T	1700.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=2.29;DP=235;ExcessHet=0.4139;FS=0.723;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=0.844;SOR=0.582	GT:AD:DP:GQ:PL	0/1:19,40:59:99:947,0,294	4	0	2	1
chr14	94079189	94079189	T	C	exonic	DDX24	.	nonsynonymous SNV	DDX24:NM_020414:exon2:c.A554G:p.H185R	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.002999433549	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389398208	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0002	1.99e-06	1.28e-06	7.2e-07	2e-07	0	0	0	2.519e-05	0	0.0002	2.698e-06	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06322	T	0.551	0.09393	T	0.0	0.02946	B	0.0	0.01387	B	0.782822	0.06665	N	1.102210	1	0.08975	N	0.34	0.10450	N	4.1	0.02944	T	-0.68	0.19509	N	0.039	0.01274	-0.9161	0.46076	T	0.007	0.02598	T	10	0.04598537	0.03734	T	0.002999	0.06427	T	0.037	0.09474	.	.	0.110078149338	0.10416	0.17406288730173738	0.17325	.	.	0.236194700003	0.02458	T	0.030571	0.21640	T	-0.396305	0.02448	T	-0.807041	0.01733	T	0.0207058058870565	0.00770	T	.	.	.	0.026647998	0.01750	0.031217638	0.01680	0.026647998	0.01750	0.031217638	0.01680	-3.275	0.13417	T	.	.	0.054	0.03026	B	.;.	.;.	-1.532036	0.00276	0.004	0.35907380484604828	0.02280	0.16732	0.19524	N	AEFDBCI	0.146702	0.27022	N	-1.5687206881563	0.01428	0.0622901	-1.6349751201175	0.01455	0.06583689	0.999999823921775	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.735409	0.98432	0	.	.	5.91	-7.19	0.01350	-0.393000	0.07366	-1.718000	0.04855	-1.493000	0.01042	0.000000	0.06391	0.000000	0.08366	0.182000	0.21359	0.0:0.5216:0.1872:0.2913	11.392	0.49061	362	0.84826	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1378.44	33	chr14	94079189	.	T	C	1378.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.27;DP=293;ExcessHet=0;FS=0.729;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.734;SOR=0.616	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1389,0,1125	6	0	1	0
chr14	94264947	94264947	C	T	exonic	PPP4R4	.	nonsynonymous SNV	PPP4R4:NM_001348142:exon20:c.C1954T:p.R652C,PPP4R4:NM_058237:exon20:c.C2197T:p.R733C,PPP4R4:NM_001348144:exon21:c.C1876T:p.R626C,PPP4R4:NM_001348143:exon22:c.C1876T:p.R626C	.	442	1073	6	1	0	8	0.00371402	0.9907	0.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	.	0.0025	0.00119808	0.0022	0.0003	0.0015	0	0.0053	0.0028	0.0066	0.0013	0.0021086	326	154602	rs140391785	0.0020	0.0020	0.0020	0.0020	0.0130	0.0019	0.0019	0.0106	0.0097	0.0007	0.0020	0.0105	5.154e-05	0.0053	0.0130	0.0017	0.0027	0.0013	0.0023	0.0023	0.0019	0.0027	0.0031	0.0021	0.0020	0.0024	0.0022	0.0004	0	0.0031	0.0101	0	0.0070	0.0068	0.0022	0.0038	0.0029	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.951	0.68939	D	0.082902	0.20782	N	0.530450	1	0.81001	D	2.125	0.59049	M	.	.	.	-2.55	0.55181	D	0.539	0.56662	-0.2080	0.77465	T	0.400	0.75145	T	9	0.006914437	0.00157	T	0.015489	0.36250	T	0.360	0.68052	.	.	0.294918367191	0.29099	0.4197588124498855	0.41891	1.12507142131	0.78425	0.543465852737	0.44936	T	0.086488	0.37736	T	-0.251403	0.13925	T	-0.138826	0.60219	T	0.0504076278554607	0.05571	T	0.965703	0.87317	D	0.23774193	0.46642	0.17298101	0.39591	0.23774193	0.46642	0.17298101	0.39590	-6.053	0.46720	T	.	.	0.537	0.66242	A	.	.	6.126490	0.94620	34	0.99891469066200078	0.96513	0.96585	0.69879	D	AEFGBI	0.766466	0.70263	D	0.668137711923018	0.77546	6.695731	0.635835395901313	0.77559	6.702898	0.998714746560112	0.37518	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	5.939000	0.69894	4.895000	0.45803	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	18.749	0.91771	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.001359	0.014620	0.050000	0.034483	0.009146	0.003788	0.07143	1297.44	33	chr14	94264947	.	C	T	1297.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.123;DP=300;ExcessHet=0;FS=0.694;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=0.778;SOR=0.568	GT:AD:DP:GQ:PL	0/1:59,59:118:99:1308,0,1263	6	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1661.77	55	chr14	94497802	.	C	T	1661.77	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-0.85;DP=480;ExcessHet=3.1439;FS=488.847;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.4;ReadPosRankSum=0.495;SOR=10.1	GT:AD:DP:GQ:PL	0/1:42,36:78:99:371,0,599	1	0	4	2
chr14	94619305	94619305	C	G	exonic	SERPINA3	.	nonsynonymous SNV	SERPINA3:NM_001085:exon3:c.C754G:p.P252A,SERPINA3:NM_001384672:exon3:c.C754G:p.P252A,SERPINA3:NM_001384673:exon4:c.C754G:p.P252A,SERPINA3:NM_001384674:exon4:c.C754G:p.P252A	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)	421	1100	1	0	0	1	0.000454339	.	.	.	33089	ANTICHYMOTRYPSIN_BONN_1|not_provided|Antichymotrypsin_deficiency-alpha-1|SERPINA3-related_disorder	.|MedGen:C3661900|MedGen:C0400965|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.491	0.0415625158125	0.0042	0.00119808	0.0030	0.0009	0.0017	0	0.0003	0.0050	0	6.058e-05	0.0033311	515	154602	rs17473	0.0047	0.0047	0.0049	0.0045	0.0059	0.0046	0.0046	0.0058	0.0057	0.0009	0.0012	0.0001	0	0.0008	0.0002	0.0059	0.0030	3.478e-05	0.0031	0.0031	0.0033	0.0029	0.0058	0.0028	0.0028	0.0053	0.0051	0.0010	0.0044	0.0012	0.0003	0	0.0008	0	0.0058	0.0009	0.0002	0.099	0.32296	T	0.485	0.16280	T	0.027	0.19556	B	0.027	0.21085	B	0.011790	0.29400	N	0.141188	1.8071e-08	0.08975	A	1.545	0.39105	L	-1.84	0.84195	D	-5.64	0.89401	D	0.183	0.19861	-0.5243	0.67756	T	0.344	0.70908	T	10	0.15218908	0.28751	T	0.041563	0.59997	D	0.491	0.77783	.	.	0.899046816885	0.89804	0.3037530640895957	0.30288	0.0357311131857	0.03767	0.294980973005	0.09655	T	0.543528	0.84413	D	-0.205706	0.19988	T	-0.0631321	0.66114	T	0.0128702099593095	0.00220	T	0.818618	0.49436	T	0.45429403	0.64313	0.49501038	0.70794	0.59981	0.72682	0.41646063	0.65729	-8.396	0.63739	D	0.4218836265072341	0.51053	0.176	0.45617	B	.;.;.;.;.	.;.;.;.;.	3.496232	0.48888	22.7	0.8228167767415755	0.14111	0.09213	0.15014	N	AEFGBCI	0.707685	0.66234	D	-0.470579749355237	0.23049	1.234991	-0.521754195269448	0.21562	1.167068	0.993770719796328	0.33350	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.66	3.75	0.42236	0.092000	0.14905	0.177000	0.15587	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6059:0.211:0.183	4.277	0.10258	772	0.48957	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1667	2892.92	36	chr14	94619305	.	C	G	2892.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.854;DP=377;ExcessHet=0.4139;FS=0.998;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.6;SOR=0.778	GT:AD:DP:GQ:PL	0/1:63,66:129:99:1569,0,1479	4	0	2	1
chr14	96264403	96264403	G	A	exonic	BDKRB1	.	nonsynonymous SNV	BDKRB1:NM_000710:exon3:c.G721A:p.G241R	.	434	1052	36	0	0	36	0.0168224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	0.0025	0.00359425	0.0062	0.0003	0.0017	0	0.0029	0.0052	0.0155	0.0213	0.0053363	825	154602	rs45528332	0.0038	0.0038	0.0031	0.0044	0.0195	0.0037	0.0036	0.0188	0.0184	0.0003	0.0021	0.0120	2.519e-05	0.0018	0.0052	0.0027	0.0040	0.0195	0.0036	0.0036	0.0035	0.0037	0.0207	0.0034	0.0033	0.0174	0.0162	0.0004	0	0.0011	0.0153	0.0002	0.0018	0.0068	0.0049	0.0043	0.0207	0.1	0.30515	T	0.693	0.05863	T	0.926	0.51467	P	0.297	0.40924	B	0.254390	0.15442	N	0.633849	1	0.25321	N	0.895	0.22405	L	-0.53	0.70833	T	-0.78	0.21644	N	0.103	0.08646	-0.9401	0.42600	T	0.150	0.47717	T	10	0.004887551	0.00104	T	.	.	.	0.172	0.43662	0.523	0.62668	0.671674792424	0.66890	0.17369235007743314	0.17289	0.406064420184	0.41486	0.302673399448	0.10801	T	0.073267	0.34657	T	-0.46555	0.00907	T	-0.425251	0.30476	T	0.00979771209445082	0.00129	T	0.586341	0.21412	T	0.07508437	0.16893	0.07595928	0.16776	0.07508437	0.16893	0.07595928	0.16776	-2.949	0.09642	T	.	.	0.120	0.24733	B	.;.	.;.	2.631070	0.34213	19.56	0.99684065869996952	0.79440	0.12662	0.17404	N	AEFGBCI	.	.	.	-0.344884559445541	0.27461	1.506785	-0.347014161319572	0.26601	1.470419	0.999995329122686	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	1.354000	0.33660	1.443000	0.26543	0.676000	0.76740	0.098000	0.22752	0.949000	0.28973	0.002000	0.04165	0.1869:0.0:0.8131:0.0	7.426	0.26275	976	0.04745	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.006793	0.000000	0.000000	0.000000	0.015244	0.030303	0.1429	1665.65	37	chr14	96264403	.	G	A	1665.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.99;DP=279;ExcessHet=0.3476;FS=10.315;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.371;SOR=1.236	GT:AD:DP:GQ:PL	0/1:31,36:67:99:960,0,749	5	0	2	0
chr14	101979447	101979447	C	G	exonic	DYNC1H1	.	nonsynonymous SNV	DYNC1H1:NM_001376:exon3:c.C473G:p.A158G	Charcot-Marie-Tooth disease, axonal, type 20, Autosomal dominant;Mental retardation, autosomal dominant 13, Autosomal dominant;Spinal muscular atrophy, lower extremity-predominant 1, AD, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00258591275764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.20759	T	.	.	.	0.594	0.39171	P	0.231	0.38266	B	0.000000	0.84330	D	0.052978	0.999998	0.58761	D	2.28	0.64929	M	1.53	0.30401	T	-2.71	0.57762	D	0.434	0.47301	-1.1103	0.03044	T	0.067	0.27640	T	10	0.38834623	0.54708	T	0.002586	0.05206	T	0.086	0.25016	0.334	0.32167	0.465761423216	0.46202	0.3312543018990284	0.33038	1.19972250114	0.80498	0.845215201378	0.88891	D	0.690412	0.90993	D	-0.136183	0.30501	T	-0.433394	0.29551	T	0.920670568943024	0.57994	D	0.89621	0.63821	D	0.6317737	0.74393	0.44808212	0.67865	0.6317737	0.74394	0.44808212	0.67866	-5.665	0.43381	T	.	.	0.209	0.43626	B	.	.	3.672680	0.52235	23.2	0.99342335375662505	0.60210	0.98065	0.79301	D	AEFBI	0.629087	0.61093	D	0.249710662620245	0.53623	3.530497	0.363743600029818	0.59340	4.110981	0.999999998958514	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.25	5.25	0.73169	5.647000	0.67597	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.8558:0.1442:0.0	14.780	0.69380	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	922.63	35	chr14	101979447	.	C	G	922.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.96;DP=265;ExcessHet=0;FS=2.799;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.871;SOR=0.43	GT:AD:DP:GQ:PL	0/1:49,41:90:99:933,0,1228	6	0	1	0
chr14	104098899	104098899	C	T	exonic	ASPG	.	nonsynonymous SNV	ASPG:NM_001080464:exon6:c.C560T:p.T187I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0610338729263	8.1e-05	.	4.826e-05	0	0.0001	0	0	5.203e-05	0	6.997e-05	3.23e-05	5	154602	rs376822285	2.054e-05	2.052e-05	1.771e-05	2.34e-05	0.0005	1.457e-05	1.265e-05	0.0001	7.546e-05	0	2.239e-05	0	0	0	0.0005	2.159e-05	1.657e-05	1.161e-05	3.284e-05	3.283e-05	5.137e-05	1.344e-05	5.879e-05	1.26e-05	7.98e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0032	5.879e-05	0	0	0.334	0.19639	T	0.383	0.24334	T	1.0	0.90584	D	0.987	0.77487	D	0.000000	0.84330	U	0.000000	0.999952	0.52396	D	1.975	0.53506	M	1.83	0.24841	T	-2.4	0.52776	N	0.828	0.82964	-0.9457	0.41698	T	0.133	0.44603	T	10	0.72451127	0.73883	D	0.061034	0.68199	D	0.192	0.47115	.	.	0.52468985305	0.52114	0.8543466328567573	0.85397	0.526482578618	0.50275	0.744549751282	0.73642	T	0.094295	0.44305	T	-0.0620097	0.42591	T	-0.196398	0.54988	T	0.465208649635315	0.31356	T	0.982268	0.94010	D	0.41148257	0.61520	0.34246993	0.59972	0.41148257	0.61520	0.34246993	0.59972	-7.386	0.56806	T	.	.	0.291	0.52260	B	.;.	.;.	3.837213	0.55501	23.6	0.99269211055349349	0.57491	0.90744	0.52179	D	AEFDBI	0.852218	0.76912	D	0.293716802756929	0.55830	3.747058	0.238722957085308	0.52011	3.378922	0.999999926893828	0.74766	0.582742	0.33608	0	0.573888	0.26702	0	0.61531	0.40942	0	0.613276	0.41899	0	.	.	3.97	3.97	0.45241	5.552000	0.66986	7.298000	0.58079	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.266000	0.23669	0.0:1.0:0.0:0.0	14.813	0.69636	517	0.74620	L-asparaginase, N-terminal;L-asparaginase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1545.05	40	chr14	104098899	.	C	T	1545.05	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.378;DP=259;ExcessHet=0.3476;FS=1.478;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=0.153;SOR=0.533	GT:AD:DP:GQ:PL	0/1:24,31:55:99:790,0,561	5	0	2	0
chr14	104946756	104946756	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8395C:p.V2799L,AHNAK2:NM_138420:exon7:c.G8695C:p.V2899L	.	.	.	.	.	.	.	.	.	.	.	2435343	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.0372655431307	.	.	9.967e-05	0.0004	0	0.0006	0	3.007e-05	0	6.056e-05	7.76e-05	12	154602	rs751143580	4.876e-05	6.43e-05	6.558e-05	3.176e-05	0.0005	3.941e-05	3.619e-05	0.0003	0.0002	0.0005	4.568e-05	0	0.0002	0	0	2.976e-05	0.0002	3.505e-05	0.0002	0.0006	0.0002	0.0002	0.0011	0.0002	0.0001	0.0004	0.0003	0.0004	0	0.0004	0	0.0011	0	0	7.68e-05	0	0	0.225	0.18626	T	0.313	0.19539	T	0.518	0.37483	P	0.226	0.38054	B	.	.	.	.	1	0.81001	D	1.455	0.36767	L	5.66	0.00776	T	-1.56	0.37759	N	0.136	0.13341	-0.9185	0.45756	T	0.005	0.01542	T	9	0.032521933	0.01406	T	0.037266	0.57510	D	0.064	0.18567	0.304	0.27325	0.0297737177859	0.01360	0.0056020981327771745	0.00530	.	.	0.281263887882	0.07669	T	0.021765	0.16896	T	-0.467445	0.00882	T	-0.533384	0.18950	T	0.0210996292355055	0.00812	T	0.562644	0.19782	T	0.04113719	0.06004	0.07096947	0.15143	0.04113719	0.06004	0.07096947	0.15142	-0.904	0.00899	T	.	.	0.122	0.25429	B	.	.	-0.017562	0.04162	1.001	0.92356238754974074	0.21758	0.07556	0.13568	N	AEFBI	.	.	.	-0.501978836871157	0.22015	1.172622	-0.55322393972836	0.20721	1.117648	4.22206282028075E-4	0.06935	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.14	3.24	0.36257	-0.111000	0.10778	-20.000000	0.00162	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.9008:0.0:0.0992	9.926	0.40663	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2816.46	78	chr14	104946756	.	C	G	2816.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.389;DP=1233;ExcessHet=0;FS=2.036;MLEAC=1;MLEAF=0.071;MQ=55.81;MQRankSum=-0.096;QD=10.2;ReadPosRankSum=0.408;SOR=0.566	GT:AD:DP:GQ:PL	0/1:159,117:276:99:2827,0,4122	6	0	1	0
chr14	104949281	104949281	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C5870T:p.P1957L,AHNAK2:NM_138420:exon7:c.C6170T:p.P2057L	.	842	668	11	1	0	13	0.00963677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	0.0670927	0.0002	0.0004	0.0001	0.0001	0	0.0002	0	8.326e-05	0.0033247	514	154602	rs561933027	7.826e-05	0.0005	7.26e-05	8.398e-05	0.0011	6.392e-05	5.83e-05	0.0004	0.0003	0.0005	0.0001	0	0.0001	0	0.0011	1.443e-05	0.0001	0.0005	7.749e-05	0.0011	5.681e-05	9.914e-05	0.0001	3.825e-05	2.801e-05	5.417e-05	3.537e-05	0.0001	0	0	0	0	0	0	5.148e-05	0.0007	0	0.007	0.59928	D	0.006	0.70582	D	0.029	0.19866	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	1.535	0.38868	L	4.88	0.01439	T	-6.02	0.89684	D	0.08	0.05542	-0.9927	0.31906	T	0.009	0.03227	T	9	0.0025387108	0.00038	T	.	.	.	0.081	0.23632	.	.	0.0611884634855	0.05136	0.03771500750535149	0.03717	.	.	0.19974796474	0.00449	T	0.050646	0.28655	T	-0.668646	0.00056	T	-0.740025	0.03889	T	0.0220577902218616	0.00915	T	0.49705	0.15447	T	0.05052777	0.09141	0.0893155	0.20880	0.05052777	0.09141	0.0893155	0.20879	-6.587	0.50953	T	.	.	0.092	0.13737	B	.	.	1.220310	0.16140	12.34	0.43822318891268208	0.03326	0.12080	0.17047	N	AEFBI	.	.	.	-1.62279424807614	0.01155	0.05018956	-1.68153671317487	0.01221	0.05500561	9.65762816530308E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	4.25	0.194	0.14424	0.826000	0.27061	-2.857000	0.03290	-1.837000	0.00584	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.2283:0.0:0.6512:0.1204	7.173	0.24907	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.003026	0.000000	0.000000	0.011905	0.000000	0.000000	0.010309	0.000000	0.25	352.17	.	chr14	104949281	.	G	A	352.17	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.986;DP=341;ExcessHet=0.6695;FS=0.816;MLEAC=3;MLEAF=0.375;MQ=56.44;MQRankSum=-6.56;QD=1.57;ReadPosRankSum=1.86;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,15:138:99:0|1:104949256_A_G:260,0,5120:104949256	2	0	2	3
chr14	104949306	104949306	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A5845G:p.T1949A,AHNAK2:NM_138420:exon7:c.A6145G:p.T2049A	.	890	610	19	3	0	25	0.0200803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	0.165136	0.0004	0.0006	0	0.0001	0	0.0003	0	0.0010	0.0069598	1076	154602	rs201406401	0.0004	0.0031	0.0003	0.0005	0.0018	0.0004	0.0004	0.0015	0.0014	0.0014	0.0003	0.0006	0.0005	2.672e-05	0.0003	0.0002	0.0006	0.0018	0.0005	0.0027	0.0005	0.0005	0.0010	0.0004	0.0003	0.0007	0.0006	0.0010	0	0.0002	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.64	0.02118	N	5.92	0.00621	T	0.87	0.01688	N	0.022	0.00372	-0.9740	0.36344	T	0.001	0.00287	T	9	0.0027029812	0.00042	T	.	.	.	0.016	0.02506	.	.	0.0138822411134	0.00435	0.00708365487551219	0.00675	.	.	0.196304097772	0.00357	T	0.015964	0.13288	T	-0.459638	0.00988	T	-0.898015	0.00517	T	0.000721562574598981	0.00007	T	0.190681	0.02037	T	0.02292779	0.00991	0.037992395	0.03572	0.02292779	0.00991	0.037992395	0.03571	0.421	0.00230	T	.	.	0.056	0.00470	B	.	.	-1.055756	0.00696	0.020	0.36831802887168441	0.02392	0.00115	0.00727	N	AEFBI	.	.	.	-2.08686289980388	0.00137	0.005858008	-2.06374372785095	0.00223	0.009847368	5.71204682153802E-4	0.07363	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.87	-3.46	0.04465	-0.796000	0.04680	-15.353000	0.00361	-0.939000	0.02101	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3694:0.2156:0.415	6.357	0.20613	982	0.03397	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.027982	0.093220	0.009967	0.024096	0.000000	0.038462	0.000000	0.025253	0.3333	357.68	19	chr14	104949306	.	T	C	357.68	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.977;DP=391;ExcessHet=0.6695;FS=0;MLEAC=3;MLEAF=0.5;MQ=57.34;MQRankSum=-7.827;QD=1.6;ReadPosRankSum=3.31;SOR=0.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,15:137:99:0|1:104949256_A_G:263,0,5078:104949256	1	0	2	4
chr14	104949324	104949324	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G5827A:p.A1943T,AHNAK2:NM_138420:exon7:c.G6127A:p.A2043T	.	455	1049	14	4	0	22	0.0103774	.	.	.	2807471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.021	.	.	0.0163738	0.0002	0.0009	0	0.0002	0	0.0001	0	0.0002	0.0005498	85	154602	rs200010377	5.587e-05	0.0005	5.654e-05	5.519e-05	0.0006	4.516e-05	4.146e-05	0.0004	0.0004	0.0006	0.0002	0	5.066e-05	0	0.0002	1.882e-05	0.0002	0.0001	0.0002	0.0008	0.0002	0.0003	0.0005	0.0002	0.0001	0.0004	0.0003	0.0005	0	9.124e-05	0	0.0002	0	0	4.935e-05	0.0007	0	0.34	0.12714	T	0.41	0.14544	T	0.999	0.77913	D	0.958	0.70027	D	.	.	.	.	1	0.08975	N	1.04	0.26193	L	5.55	0.00874	T	-1.07	0.27876	N	0.079	0.05414	-0.9307	0.44036	T	0.008	0.02720	T	9	0.0046064258	0.00096	T	.	.	.	0.021	0.04004	.	.	0.0401082797425	0.02173	0.00525549496637017	0.00496	.	.	0.213303595781	0.00959	T	0.020106	0.15893	T	-0.567867	0.00228	T	-0.755918	0.03260	T	0.0209839604794979	0.00799	T	0.377062	0.09013	T	0.015034415	0.00119	0.036937363	0.03242	0.015034415	0.00119	0.036937363	0.03241	-6.702	0.51825	T	.	.	0.077	0.06479	B	.	.	0.220959	0.06035	2.475	0.9947742150937795	0.66687	0.01841	0.05704	N	AEFBI	.	.	.	-0.425225448838182	0.24588	1.328673	-0.675545245549276	0.17572	0.9350048	1.65893175846788E-4	0.05721	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.87	0.935	0.18608	-1.254000	0.02984	-8.576000	0.00947	-0.944000	0.02069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1662:0.6467:0.0:0.1871	5.083	0.14002	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.029447	0.113636	0.019284	0.018182	0.000000	0.017241	0.008000	0.016667	0.1429	354.24	35	chr14	104949324	.	C	T	354.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.01;DP=475;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=57.51;MQRankSum=-7.874;QD=1.48;ReadPosRankSum=3.26;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,17:153:99:0|1:104949256_A_G:271,0,5588:104949256	5	0	2	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.8571	7281.9	27	chr15	22081297	.	T	C	7281.9	.	AC=12;AF=0.857;AN=14;BaseQRankSum=8.72;DP=836;ExcessHet=0.3476;FS=134.374;MLEAC=12;MLEAF=0.857;MQ=46.84;MQRankSum=-7.545;QD=9.34;ReadPosRankSum=0.422;SOR=7.264	GT:AD:DP:GQ:PL	1/1:0,11:11:33:343,33,0	0	5	2	0
chr15	23327343	23327363	TATCTTCTCCTCCTGCTCCCT	-	exonic	LOC102723623	.	nonframeshift deletion	LOC102723623:NM_001382446:exon8:c.1504_1524del:p.K521_E645delinsMMQEQEEKMGEQEEKMQEQEKMRRQEEKIREQEEKIREQKEKIREQEEKIWEQEEKIREQEEMMQEQEEKMWEQEEKMCEQEEKMQEQEEKMRRQEEKMWEQEVRLRQQEEKMQEHQEHLEAAI*	.	708	752	44	16	2	78	0.0481013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1477931233	0.0009	0.0038	0.0008	0.0010	0.0027	0.0008	0.0008	0.0023	0.0022	0.0011	0.0026	0.0004	0.0007	0.0007	0.0019	0.0006	0.0010	0.0027	0.0002	0.0036	0.0002	0.0002	0.0002	0.0001	0.0001	9.12e-05	6.511e-05	0.0002	0	0.0001	0	0	0.0006	0	0.0002	0.0010	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	102.23	.	chr15	23327342	.	GTATCTTCTCCTCCTGCTCCCT	G	102.23	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.98;DP=108;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=45.38;MQRankSum=-3.002;QD=4.44;ReadPosRankSum=0.085;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,4:23:99:0|1:23327342_GTATCTTCTCCTCCTGCTCCCT_G:111,0,785:23327342	4	0	1	2
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11756.5	113	chr15	23440492	.	C	*	11756.5	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.82;DP=810;ExcessHet=0;FS=0;MLEAC=7;MLEAF=0.583;MQ=58.45;MQRankSum=-0.27;QD=15.03;ReadPosRankSum=0.216;SOR=0.697	GT:AD:DP:GQ:PL	1/0:0,71:151:99:5313,2572,3255	0	0	6	1
chr15	23645870	23645870	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C1873T:p.H625Y	Schaaf-Yang syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0674409231361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.558	0.09175	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.178	0.19190	.	.	.	.	.	.	.	0.20108393	0.36178	T	0.067441	0.70167	D	.	.	.	.	0.043077524339	0.03247	0.15085357140624267	0.15007	0.195102303501	0.21846	0.575626730919	0.49471	T	0.097739	0.40087	T	-0.238523	0.15538	T	-0.580398	0.14509	T	.	.	.	0.532447	0.17709	T	0.053495474	0.10131	0.13539855	0.32419	0.053495474	0.10131	0.13539855	0.32418	-4.888	0.35600	T	.	.	0.173	0.37858	B	.;.	.;.	3.362843	0.46435	22.3	0.97222935500996144	0.32910	0.08765	0.14646	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.485436142155105	0.20820	0.65757	0.49021	0	0.573888	0.26702	0	0.619478	0.44681	0	0.613276	0.41899	0	.	.	3.43	2.47	0.29113	3.864000	0.55736	7.412000	0.58651	0.586000	0.30580	0.883000	0.31049	1.000000	0.68203	0.905000	0.44082	0.0:0.2126:0.5687:0.2187	6.067	0.19094	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1661.46	42	chr15	23645870	.	G	A	1661.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.95;DP=344;ExcessHet=0;FS=3.346;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=1.28;SOR=0.617	GT:AD:DP:GQ:PL	0/1:49,71:120:99:1672,0,1224	6	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1421.39	77	chr15	33066576	.	A	G	1421.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.25;DP=407;ExcessHet=3.1439;FS=230.13;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.47;ReadPosRankSum=1.48;SOR=6.9	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,6:72:39:0|1:33066574_C_T:39,0,2738:33066574	2	0	4	1
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	791.31	77	chr15	33066577	.	C	G	791.31	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.61;DP=397;ExcessHet=3.1439;FS=238.759;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.58;ReadPosRankSum=1.41;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,6:71:42:0|1:33066574_C_T:42,0,2711:33066574	2	0	4	1
chr15	33066579	33066579	C	T	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306A:p.E436K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0640291295364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.172	0.63918	T	0.999	0.90584	D	0.984	0.76113	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.21	0.61798	T	-1.7	0.49684	N	0.735	0.73826	-0.3008	0.74963	T	0.421	0.76630	T	8	0.7212701	0.73678	D	0.064029	0.69152	D	0.219	0.51417	0.231	0.15855	0.748136256137	0.74586	.	.	0.0231449100248	0.02349	.	.	.	.	.	.	0.142383	0.68551	D	-0.0332535	0.68153	D	0.952831566333771	0.63885	D	.	.	.	.	.	.	.	.	.	.	.	-12.099	0.85330	D	.	.	0.586	0.71819	P	.;.	.;.	2.594882	0.33671	19.41	0.99883603428231948	0.95892	0.93420	0.58169	D	AEFBCI	0.825608	0.74527	D	0.777670272844729	0.84690	8.359056	0.801274126872763	0.89881	10.16146	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	448.01	77	chr15	33066579	.	C	T	448.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.34;DP=411;ExcessHet=1.1394;FS=190.15;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=0.475;SOR=7.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,6:71:42:0|1:33066574_C_T:42,0,2711:33066574	4	0	2	1
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	521.25	77	chr15	33066580	.	C	G	521.25	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.941;DP=411;ExcessHet=1.1394;FS=179.184;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.28;ReadPosRankSum=0.486;SOR=7.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,6:71:42:0|1:33066574_C_T:42,0,2711:33066574	3	0	3	1
chr15	42417393	42417393	G	A	exonic	ZNF106	.	nonsynonymous SNV	ZNF106:NM_001381998:exon20:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.26e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766932726	6.857e-07	1.368e-06	0	1.378e-06	9.015e-07	0	0	.	.	0	0	0	0	0	0	9.015e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	244.8	29	chr15	42417393	.	G	A	244.8	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.665;DP=287;ExcessHet=3.1439;FS=133.806;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=0.449;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,7:61:7:0|1:42417393_G_A:7,0,1945:42417393	4	0	2	1
chr15	43873170	43873170	C	T	splicing	FRMD5	NM_001322949:exon15:c.1531+1G>A;NM_001322951:exon14:c.1426+1G>A	.	.	.	432	1084	5	1	0	7	0.00321839	.	.	.	3511928	FRMD5-related_condition|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.209	.	.	0.00179712	0.0026	0.0011	0.0103	0	0.0006	0.0051	0	0.0014	0.0010414	161	154602	rs146884659	0.0052	0.0050	0.0053	0.0052	0.0137	0.0051	0.0051	0.0112	0.0103	0.0010	0.0037	0.0052	2.798e-05	0.0002	0.0137	0.0060	0.0058	0.0016	0.0037	0.0037	0.0040	0.0033	0.0059	0.0034	0.0033	0.0053	0.0051	0.0008	0.0011	0.0059	0.0063	0	9.422e-05	0.0103	0.0057	0.0038	0.0021	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.9	0.84628	D	0.15	0.05310	N	0.184	0.19995	-0.3928	0.72253	T	0.420	0.76530	T	6	0.005738586	0.00128	T	.	.	.	0.209	0.49871	.	.	0.559559883721	0.55617	.	.	.	.	.	.	.	0.00487	0.04291	T	-0.232951	0.16260	T	-0.104782	0.63024	T	0.0549946020506515	0.06356	T	0.49475	0.15329	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.21201	B	.	.	1.641279	0.20944	14.98	0.97794167433786949	0.36020	0.83078	0.42227	D	AEFBI	0.266803	0.38365	N	0.103035043848051	0.46603	2.898249	0.140065303939173	0.46618	2.904913	0.228803065116187	0.18441	0.651	0.46895	0	0.546412	0.12157	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.04	3.14	0.35196	2.450000	0.44601	2.387000	0.32519	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.184:0.7216:0.0:0.0944	6.162	0.19586	6	0.99319	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	707.63	33	chr15	43873170	.	C	T	707.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.766;DP=242;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=1.37;SOR=0.608	GT:AD:DP:GQ:PL	0/1:38,34:72:99:718,0,856	6	0	1	0
chr15	48510149	48510149	T	C	exonic	FBN1	.	nonsynonymous SNV	FBN1:NM_000138:exon14:c.A1609G:p.N537D	Acromicric dysplasia, Autosomal dominant;Ectopia lentis, familial, Autosomal dominant;Geleophysic dysplasia 2, Autosomal dominant;MASS syndrome;Marfan lipodystrophy syndrome, Autosomal dominant;Marfan syndrome, Autosomal dominant;Stiff skin syndrome, Autosomal dominant;Weill-Marchesani syndrome 2, dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.3429950661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	1.368e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.033	0.53072	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	-2.25	0.87272	D	-3.93	0.73267	D	0.909	0.91047	0.342	0.88208	D	0.655	0.87981	D	10	0.8570492	0.84906	D	0.342995	0.92065	D	0.627	0.85615	0.477	0.55502	0.760418965116	0.75824	.	.	2.25126918613	0.96108	0.790217995644	0.80476	T	.	.	.	0.0817286	0.62242	D	-0.120379	0.61771	T	0.985824942588806	0.76706	D	0.553945	0.19167	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.512	0.65136	A	.	.	4.568343	0.72054	25.8	0.99704985483028785	0.80936	0.98462	0.83029	D	AEFGBI	0.954160	0.97105	D	0.604960175191823	0.73488	5.974262	0.64047531691257	0.77905	6.769892	0.999999999990481	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.653264	0.51672	0	0.727631	0.95156	0	.	.	5.5	5.5	0.81386	8.017000	0.88732	7.911000	0.74030	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.719	0.68904	513	0.74941	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	626.83	34	chr15	48510149	.	T	C	626.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.531;DP=246;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-1.151;SOR=0.598	GT:AD:DP:GQ:PL	0/1:44,30:74:99:637,0,1019	6	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	246.27	30	chr15	51480616	.	G	C	246.27	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-4.117;DP=432;ExcessHet=1.383;FS=628.443;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=1.23;SOR=9.327	GT:AD:DP:GQ:PL	0/1:72,34:119:99:223,0,1497	1	0	3	3
chr15	59123539	59123539	C	T	exonic	CCNB2	.	nonsynonymous SNV	CCNB2:NM_004701:exon8:c.C998T:p.T333I	.	441	1079	2	0	0	2	0.000925926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.029526233376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	2.052e-06	0	2.754e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.30656	T	0.081	0.51421	T	0.799	0.44910	P	0.69	0.53781	P	0.000000	0.84330	D	0.050387	0.999659	0.48079	D	2.76	0.80626	M	1.62	0.28189	T	-1.62	0.40468	N	0.64	0.65245	-0.6813	0.61312	T	0.220	0.58332	T	10	0.7429799	0.75090	D	0.029526	0.52020	D	0.249	0.55752	0.759	0.88811	0.852573532592	0.85115	0.726605649599939	0.72604	0.551851109033	0.52016	0.633831262589	0.57688	T	0.37723	0.74046	T	0.0123636	0.53348	T	-0.220017	0.52735	T	0.957615673542023	0.65056	D	0.882712	0.65783	D	0.16603227	0.36912	0.17167073	0.39367	0.16603227	0.36912	0.17167073	0.39366	-8.555	0.64792	D	.	.	0.638	0.73675	P	.;.;.	.;.;.	4.667684	0.74564	26.2	0.9975715235371454	0.84772	0.94205	0.60432	D	AEFDBCI	0.637206	0.61607	D	0.643955632217772	0.75979	6.402496	0.620207277046173	0.76409	6.485668	0.999999615124575	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.53	5.53	0.82530	3.867000	0.55760	5.965000	0.51894	0.549000	0.26987	0.998000	0.41325	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	18.458	0.90674	516	0.74704	Cyclin, C-terminal domain|Cyclin-like|Cyclin, C-terminal domain|Cyclin-like;Cyclin, C-terminal domain;Cyclin, C-terminal domain|Cyclin-like|Cyclin, C-terminal domain|Cyclin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	1351.26	34	chr15	59123539	.	C	T	1351.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.343;DP=280;ExcessHet=0.3476;FS=1.377;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.86;ReadPosRankSum=1.39;SOR=0.834	GT:AD:DP:GQ:PL	0/1:42,40:82:99:1012,0,1015	5	0	2	0
chr15	63922922	63922922	A	C	exonic	DAPK2	.	nonsynonymous SNV	DAPK2:NM_001363730:exon10:c.T1280G:p.F427C	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0255157666757	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370361571	2.096e-05	1.984e-05	1.712e-05	2.49e-05	2.596e-05	1.471e-05	1.271e-05	1.8e-05	1.549e-05	0	0	0	0	0	0	2.596e-05	0	1.262e-05	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.001	0.78490	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.42	0.69536	T	-1.5	0.36586	N	0.389	0.43029	.	.	.	.	.	.	.	0.24761593	0.42045	T	0.025516	0.48485	D	.	.	.	.	0.746264508851	0.74398	0.34196041361907936	0.34109	.	.	.	.	.	.	.	.	-0.061971	0.42597	T	-0.301613	0.44555	T	.	.	.	0.527447	0.17405	T	.	.	.	.	.	.	.	.	-2.259	0.04336	T	.	.	0.179	0.39029	B	.;.	.;.	2.186159	0.27867	17.61	0.98376179654662066	0.40801	0.91959	0.54634	D	AEFGBI	0.639821	0.61774	D	.	.	.	.	.	.	0.999969368984249	0.48965	0.487112	0.14033	0	0.446627	0.06534	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.26	2.55	0.29757	3.188000	0.50658	7.466000	0.59102	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.4589:0.0:0.0:0.5411	8.736	0.33688	117	0.95266	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1596.44	49	chr15	63922922	.	A	C	1596.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.073;DP=359;ExcessHet=0;FS=7.205;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.049;SOR=0.306	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1607,0,1689	6	0	1	0
chr15	65076567	65076567	G	C	exonic	RASL12	.	nonsynonymous SNV	RASL12:NM_001379429:exon1:c.C32G:p.S11C	.	374	1147	1	0	0	1	0.00043573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00639221352192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.454e-06	1.051e-05	3.962e-06	6.719e-06	0.0002	1.45e-06	4e-07	1.05e-06	3.9e-07	0	0	0	0	0	0.0002	6.305e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.036	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.27	0.67367	T	-0.12	0.08809	N	0.243	0.27435	-0.9738	0.36387	T	0.140	0.45997	T	6	0.17781413	0.32834	T	0.006392	0.16812	T	0.088	0.25558	0.528	0.63412	0.536427718672	0.53293	.	.	.	.	.	.	.	.	.	.	-0.160598	0.26669	T	-0.468465	0.25681	T	0.0878540650086991	0.10961	T	0.218178	0.02774	T	.	.	.	.	.	.	.	.	-4.627	0.32509	T	.	.	0.084	0.09481	B	.	.	1.116870	0.15023	11.53	0.89155115746111124	0.18557	0.02369	0.06743	N	AEFBIJ	0.026647	0.02039	N	-0.71980955887341	0.15466	0.7796275	-0.916157052581251	0.11713	0.5984108	0.0167346138333663	0.12866	0.59774	0.34471	0	0.547309	0.14657	0	0.514364	0.09456	0	0.63947	0.58350	0	.	.	.	.	.	0.012000	0.13184	-0.046000	0.12607	0.098000	0.17617	0.187000	0.24151	0.005000	0.19230	0.150000	0.20306	.	.	.	315	0.87208	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1394.44	35	chr15	65076567	.	G	C	1394.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.828;DP=302;ExcessHet=0;FS=2.397;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-0.238;SOR=0.945	GT:AD:DP:GQ:PL	0/1:56,59:115:99:1405,0,1237	6	0	1	0
chr15	65375359	65375359	A	C	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon2:c.T147G:p.S49R	.	.	.	.	.	.	.	.	.	.	.	4150769	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.242	0.0307965821773	.	.	2.501e-05	0	0	0	0	4.539e-05	0	0	1.94e-05	3	154602	rs971761313	7.552e-06	8.209e-06	9.547e-06	5.53e-06	0.0002	4.05e-06	2.96e-06	3.11e-06	2.25e-06	0	2.241e-05	0	0	0	0.0002	7.222e-06	1.663e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.247	0.17296	T	0.013	0.63109	D	0.922	0.51142	P	0.724	0.55036	P	0.000098	0.51296	D	0.173956	0.677326	0.33200	D	0.965	0.23975	L	-0.23	0.66652	T	-1.49	0.36385	N	0.389	0.43029	-0.5233	0.67792	T	0.228	0.59296	T	10	0.19900832	0.35893	T	0.030797	0.53030	D	0.242	0.54781	0.345	0.33950	0.375861065471	0.37200	0.6680216033378564	0.66740	0.595986134547	0.54857	0.560665726662	0.47363	T	0.122205	0.44571	T	-0.242733	0.15003	T	-0.478788	0.24574	T	0.215583115816116	0.21241	T	0.762724	0.38847	T	0.14398085	0.33069	0.13174501	0.31628	0.14398085	0.33068	0.13174501	0.31627	-6.716	0.51931	T	.	.	0.241	0.47513	B	.	.	0.370218	0.07427	4.056	0.96767874632756978	0.31023	0.11964	0.16974	N	AEFGBI	0.127394	0.24473	N	-0.977155342316528	0.09093	0.4289608	-1.21052520601847	0.05740	0.2743493	0.999999701159576	0.74766	0.740716	0.97744	0	0.563428	0.19063	0	0.0	0.00061	3	0.530356	0.10902	0	.	.	5.63	-6.89	0.01501	-1.124000	0.03372	-3.505000	0.02736	-0.137000	0.12594	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.7256:0.0:0.2744:0.0	17.974	0.89042	457	0.78953	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3731.87	36	chr15	65375359	.	A	C	3731.87	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.29;DP=316;ExcessHet=0;FS=0.669;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=22.35;ReadPosRankSum=-1.979;SOR=0.804	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1162,0,1019	5	1	1	0
chr15	65451984	65451984	A	G	exonic	DPP8	.	nonsynonymous SNV	DPP8:NM_017743:exon16:c.T2090C:p.M697T,DPP8:NM_001320876:exon18:c.T2390C:p.M797T,DPP8:NM_130434:exon18:c.T2390C:p.M797T,DPP8:NM_197961:exon18:c.T2285C:p.M762T,DPP8:NM_001320875:exon19:c.T2438C:p.M813T,DPP8:NM_197960:exon19:c.T2438C:p.M813T	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.354	0.00823701715348	.	.	8.251e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs777481618	4.817e-06	6.84e-06	2.739e-06	6.917e-06	2.346e-05	2e-06	1.29e-06	8.4e-07	5.7e-07	0	2.346e-05	0	0	0	0	3.607e-06	3.334e-05	0	6.61e-06	6.582e-06	1.291e-05	0	6.609e-05	0	0	.	.	0	0	6.609e-05	0	0	0	0	0	0	0	0.824	0.29554	T	0.589	0.08654	T	0.012	0.49086	B	0.002	0.45803	B	0.000000	0.84330	D	0.000000	0.997141	0.43662	D	-1.265	0.00749	N	1.62	0.28189	T	-0.65	0.18877	N	0.535	0.59393	-0.9759	0.35926	T	0.027	0.11663	T	10	0.1748144	0.32381	T	0.008237	0.21827	T	0.354	0.67510	0.376	0.38994	0.151262610727	0.14761	0.8890398347277562	0.88872	2.3366587761	0.96723	0.743505001068	0.73488	T	0.080255	0.36320	T	0.0462058	0.57852	T	-0.171405	0.57315	T	0.414682662815717	0.29492	T	0.888511	0.61827	D	0.40245137	0.60902	0.23881282	0.49214	0.40245137	0.60902	0.23881282	0.49213	-6.075	0.47436	T	.	.	0.355	0.64568	A	.;.;.;.;.	.;.;.;.;.	3.979007	0.58476	24.0	0.91751131744919623	0.21050	0.97903	0.78000	D	AEFBI	0.847649	0.76450	D	-0.322037675143283	0.28313	1.560606	-0.0339048942014366	0.38195	2.246801	0.677564385034323	0.22442	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	7.187000	0.77268	9.307000	0.79926	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.227	0.73050	449	0.79428	Peptidase S9, prolyl oligopeptidase, catalytic domain;.;.;.;Peptidase S9, prolyl oligopeptidase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	575.83	35	chr15	65451984	.	A	G	575.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.275;DP=257;ExcessHet=0;FS=2.145;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.14;ReadPosRankSum=0.242;SOR=1.101	GT:AD:DP:GQ:PL	0/1:34,29:63:99:586,0,800	6	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R,DIS3L:NM_001323940:exon11:c.C987G:p.S329R,DIS3L:NM_001323943:exon11:c.C987G:p.S329R,DIS3L:NM_001323948:exon11:c.C1917G:p.S639R,DIS3L:NM_001143688:exon12:c.C2097G:p.S699R,DIS3L:NM_001323936:exon12:c.C1848G:p.S616R,DIS3L:NM_001323938:exon12:c.C1695G:p.S565R,DIS3L:NM_001323941:exon12:c.C1695G:p.S565R,DIS3L:NM_001323944:exon12:c.C2046G:p.S682R,DIS3L:NM_001323945:exon12:c.C1848G:p.S616R,DIS3L:NM_001323946:exon12:c.C1695G:p.S565R,DIS3L:NM_133375:exon12:c.C1848G:p.S616R,DIS3L:NM_001323939:exon13:c.C1695G:p.S565R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	187.05	56	chr15	66326260	.	C	G	187.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.347;DP=352;ExcessHet=1.383;FS=285.591;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.3;SOR=7.903	GT:AD:DP:GQ:PL	0/1:69,16:85:38:38,0,1704	3	0	3	1
chr15	72474712	72474714	GAG	-	exonic	ARIH1	.	nonframeshift deletion	ARIH1:NM_005744:exon1:c.73_75del:p.E28del	.	3	1515	4	0	0	4	0.00131839	.	.	.	1529532	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|ARIH1-related_disorder|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0265	.	0.0075	0.0043	0.0090	0.0065	0.0072	0.0083	0.0051	0.0066	0.0001537	4	26028	rs143905502	0.0013	0.0038	0.0013	0.0013	0.0016	0.0013	0.0012	0.0012	0.0011	0.0009	0.0016	0.0079	0.0010	0.0017	0.0005	0.0011	0.0015	0.0012	0.0007	0.0008	0.0008	0.0006	0.0009	0.0006	0.0006	0.0008	0.0007	0.0002	0	6.549e-05	0.0072	0.0002	0.0008	0	0.0009	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	121.18	35	chr15	72474711	.	CGAG	C	121.18	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.753;DP=268;ExcessHet=0;FS=3.322;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.59;ReadPosRankSum=-1.056;SOR=1.085	GT:AD:DP:GQ:PL	0/1:68,8:76:99:131,0,2826	5	0	1	1
chr15	74181318	74181318	G	A	exonic	STRA6	.	nonsynonymous SNV	STRA6:NM_001142617:exon17:c.C1661T:p.P554L,STRA6:NM_001142618:exon17:c.C1661T:p.P554L,STRA6:NM_001142619:exon17:c.C1634T:p.P545L,STRA6:NM_001199040:exon17:c.C1772T:p.P591L,STRA6:NM_001199041:exon17:c.C1706T:p.P569L,STRA6:NM_001199042:exon17:c.C1778T:p.P593L,STRA6:NM_022369:exon17:c.C1661T:p.P554L	Microphthalmia, isolated, with coloboma 8, Autosomal recessive;Microphthalmia, syndromic 9, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	2671577	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.121	0.0365947967064	.	.	3.485e-05	0	0.0003	0.0001	0	0	0	0	2.59e-05	4	154602	rs759887263	3.083e-05	3.078e-05	3.953e-05	2.204e-05	0.0002	2.35e-05	2.098e-05	0.0001	9.208e-05	0	0.0002	0	2.522e-05	0	0	2.159e-05	0.0001	2.323e-05	4.605e-05	4.597e-05	6.428e-05	2.695e-05	0.0003	2.112e-05	1.528e-05	8.883e-05	5.39e-05	0	0	0.0003	0	0	0	0	4.414e-05	0	0	0.36	0.13131	T	0.283	0.22154	T	0.017	0.20130	B	0.003	0.10090	B	0.009835	0.30183	N	0.381182	0.999999	0.08975	N	1.5	0.37844	L	-1.32	0.79761	T	-2.6	0.55983	D	0.098	0.10626	-0.9722	0.36734	T	0.189	0.54049	T	10	0.042830825	0.03071	T	0.036595	0.57092	D	0.121	0.33580	.	.	0.247322355667	0.24350	0.3501652648074907	0.34930	0.0955936571595	0.10801	0.272087872028	0.06415	T	0.242123	0.61080	T	-0.283575	0.10292	T	-0.347553	0.39485	T	0.0402615802043343	0.03738	T	0.768523	0.39806	T	0.03695256	0.04644	0.055827837	0.09864	0.03695256	0.04644	0.055827837	0.09864	-4.876	0.35464	T	.	.	0.073	0.09627	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.196037	0.15877	12.17	0.83564370307357361	0.14795	0.05836	0.11778	N	AEFGBHCI	0.124187	0.24013	N	-1.06742686864238	0.07250	0.3362193	-1.08930655257188	0.07910	0.3866862	0.999998708595598	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.72	-1.66	0.07824	0.373000	0.20215	1.167000	0.24596	-0.154000	0.11915	0.028000	0.20300	0.110000	0.22784	0.049000	0.15107	0.0877:0.2059:0.1934:0.513	3.517	0.07288	808	0.43318	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3930.31	38	chr15	74181318	.	G	A	3930.31	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.794;DP=325;ExcessHet=0;FS=2.437;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=-0.359;SOR=0.964	GT:AD:DP:GQ:PL	1/1:0,96:96:99:2824,288,0	4	1	1	1
chr15	75264022	75264022	G	A	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon7:c.G503A:p.R168H	.	431	1086	4	1	0	6	0.00275482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.014645287641	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1216069749	0.0004	0.0014	0.0004	0.0005	0.0030	0.0004	0.0004	0.0025	0.0024	0.0002	6.724e-05	7.662e-05	0.0030	0.0002	0.0006	0.0003	0.0005	0.0019	0.0010	0.0018	0.0010	0.0011	0.0092	0.0009	0.0008	0.0071	0.0063	0.0004	0	0.0003	0	0.0092	0.0005	0	0.0009	0.0005	0.0037	0.047	0.40319	D	0.097	0.39190	T	0.997	0.70673	D	0.923	0.65830	D	.	.	.	.	0.682334	0.33246	D	2.535	0.73915	M	1.3	0.35590	T	-2.95	0.61580	D	0.205	0.22742	-0.7653	0.57115	T	0.157	0.48858	T	8	0.27332008	0.44880	T	0.014645	0.34905	T	0.078	0.22779	0.238	0.16912	0.104622674875	0.10061	0.5149210535513391	0.51415	3.37465409467	0.99679	0.824827253819	0.85770	D	0.144426	0.48104	T	-0.23745	0.15675	T	-0.578857	0.14648	T	0.891521096229553	0.54249	D	0.773423	0.40508	T	0.053371593	0.10091	0.05792827	0.10618	0.053371593	0.10091	0.05792827	0.10618	-7.426	0.57088	T	.	.	0.093	0.13923	B	.	.	2.403721	0.30884	18.57	0.9968802658927195	0.79708	0.36481	0.25543	N	AEFI	0.172370	0.29940	N	-0.14908096913132	0.35274	2.023987	-0.431758186624478	0.24071	1.316103	3.46704561621738E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	2.737000	0.47066	5.764000	0.49701	-1.057000	0.01625	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	6.0E-4:0.0:0.9994:0.0	5.950	0.18479	509	0.75304	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	218.73	34	chr15	75264022	.	G	A	218.73	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.65;DP=200;ExcessHet=0;FS=10;MLEAC=1;MLEAF=0.071;MQ=24;MQRankSum=0;QD=21.87;ReadPosRankSum=0.674;SOR=4.608	GT:AD:DP:GQ:PL	1/1:1,9:10:1:230,1,0	6	1	0	0
chr15	84512517	84512517	T	0	exonic	GOLGA6L4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	173.97	34	chr15	84512517	.	T	*	173.97	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.271;DP=364;ExcessHet=0;FS=3.859;MLEAC=4;MLEAF=0.286;MQ=46.02;MQRankSum=-5.822;QD=1.12;ReadPosRankSum=0.662;SOR=1.132	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,34:35:66:1|1:84512508_ATGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCC_A:1470,66,0:84512508	5	2	0	0
chr15	85710582	85710582	C	T	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_001270546:exon11:c.C1399T:p.P467S,AKAP13:NM_006738:exon19:c.C5548T:p.P1850S,AKAP13:NM_007200:exon19:c.C5536T:p.P1846S	.	420	1098	3	1	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0215872086774	0.0005	0.000199681	0.0010	0	0.0005	0	0.0009	0.0012	0.0011	0.0020	0.0009185	142	154602	rs112971613	0.0008	0.0008	0.0007	0.0009	0.0047	0.0007	0.0007	0.0033	0.0028	8.965e-05	0.0005	0.0060	0	0.0006	0.0047	0.0006	0.0012	0.0024	0.0006	0.0006	0.0006	0.0005	0.0017	0.0005	0.0004	0.0008	0.0006	2.406e-05	0	0.0007	0.0037	0	0.0006	0.0034	0.0007	0.0005	0.0017	0.005	0.63226	D	0.545	0.25135	T	0.972	0.60381	D	0.647	0.58514	P	.	.	.	.	0.836321	0.34996	D	2.365	0.68172	M	2.87	0.10674	T	-3.3	0.65858	D	0.215	0.31365	-0.9349	0.43409	T	0.086	0.33550	T	9	0.0072150826	0.00164	T	0.021587	0.44379	T	0.103	0.29403	.	.	0.306606720791	0.30265	0.253976200292315	0.25311	0.0720078123566	0.08073	0.443444252014	0.31048	T	0.08597	0.38019	T	-0.475985	0.00781	T	-0.463759	0.26191	T	0.0633773362172743	0.07688	T	0.940506	0.78031	D	0.19886824	0.41805	0.23886791	0.49220	0.19886824	0.41805	0.23886791	0.49219	-9.808	0.72754	D	.	.	0.099	0.35808	B	.;.;.;.;.;.	.;.;.;.;.;.	3.976917	0.58430	24.0	0.99920635407809288	0.98721	0.97037	0.72325	D	ALL	0.560422	0.56883	D	0.253272392519338	0.53800	3.547553	0.328782688902294	0.57236	3.888775	0.999999999999997	0.74766	0.706298	0.61202	0	0.648423	0.57943	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.95	5.03	0.67015	5.812000	0.68868	5.893000	0.50786	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1513:0.8487:0.0:0.0	14.003	0.63962	754	0.51307	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.000000	0.024390	0.007576	0.2143	6035.7	33	chr15	85710582	.	C	T	6035.7	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.618;DP=612;ExcessHet=0;FS=0.54;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=21.56;ReadPosRankSum=-1.013;SOR=0.763	GT:AD:DP:GQ:PL	1/1:0,155:155:99:4438,465,0	5	1	1	0
chr15	86142017	86142017	A	G	exonic	AGBL1	.	nonsynonymous SNV	AGBL1:NM_152336:exon2:c.A65G:p.K22R	Corneal dystrophy, Fuchs endothelial, 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs759396378	2.79e-05	2.668e-05	1.129e-05	4.497e-05	0.0005	2.089e-05	1.834e-05	0.0004	0.0003	0	0	0	0	0	0	0	0	0.0005	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	7.296e-05	3.031e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9876	0.33200	T	0.079	0.31526	T	5	0.122226596	0.23183	T	.	.	.	0.186	0.46104	.	.	.	.	0.050440090588068066	0.04987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582642	0.21138	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01786	B	.	.	1.257498	0.16549	12.61	0.59182279510737013	0.06164	0.07074	0.13100	N	AEFBI	.	.	.	-0.941358542865043	0.09888	0.4700118	-1.08591921048569	0.07976	0.390239	0.0036404231356009	0.10212	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0768874	0.17753	5.04	-4.37	0.03381	0.542000	0.22930	1.117000	0.24210	-0.576000	0.04747	0.856000	0.30544	0.983000	0.30585	0.015000	0.10482	0.6778:0.0:0.3222:0.0	11.233	0.48155	480	0.77422	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2999.26	37	chr15	86142017	.	A	G	2999.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.794;DP=460;ExcessHet=0.3476;FS=1.36;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.401;SOR=0.801	GT:AD:DP:GQ:PL	0/1:109,82:191:99:1767,0,2530	5	0	2	0
chr15	88856755	88856755	-	AGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	exonic	ACAN	.	nonframeshift insertion	ACAN:NM_001135:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE,ACAN:NM_001369268:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE,ACAN:NM_013227:exon12:c.4170_4171insAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG:p.D1390_I1391insSGLPSGEVLETTAPGVDE	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0025	0.0018	0.0020	0.0026	0.0018	0.0018	0.0023	0.0022	0.0003	0.0004	0.0024	0.0005	0.0048	0.0024	0.0018	0.0024	0.0026	6.283e-05	6.267e-05	9.208e-05	3.217e-05	0.0001	2.066e-05	1.288e-05	4.919e-05	3.001e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	200.4	40	chr15	88856755	.	C	CAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	200.4	.	AC=1;AF=0.071;AN=14;DP=286;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=49.26;QD=2.3;SOR=0.523	GT:AD:DP:GQ:PL	0/1:75,12:87:99:211,0,2696	6	0	1	0
chr15	89750804	89750804	C	G	exonic	MESP1	.	nonsynonymous SNV	MESP1:NM_018670:exon1:c.G428C:p.S143T	.	2	1512	8	0	0	8	0.00263852	.	.	.	2215159	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.361	0.917779478836	.	.	0.0001	0	0.0002	0	0	0.0001	0	0.0002	3.88e-05	6	154602	rs774948264	3.129e-05	3.147e-05	2.164e-05	4.112e-05	0.0009	2.358e-05	2.095e-05	0.0004	0.0002	6.995e-05	2.819e-05	0	0	0	0.0009	1.395e-05	0.0001	0.0002	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.048	0.40068	D	0.135	0.34124	T	0.982	0.60036	D	0.715	0.54683	P	0.001964	0.37549	U	0.000000	0.989031	0.40874	D	2.25	0.63811	M	-2.34	0.87989	D	-2.16	0.48850	N	0.208	0.23125	0.148	0.85018	D	0.619	0.86564	D	10	0.34192705	0.51234	T	0.917779	0.99392	D	0.361	0.68141	0.299	0.26522	0.643574497599	0.64062	0.3003245447234037	0.29945	1.21140750543	0.80846	0.873099029064	0.93008	D	0.266031	0.63794	T	-0.293922	0.09245	T	-0.375261	0.36275	T	0.484813511371613	0.32074	T	0.754325	0.37688	T	0.18588448	0.39971	0.3103691	0.57048	0.18588448	0.39970	0.3103691	0.57047	-7.115	0.54868	T	.	.	0.177	0.38658	B	.	.	3.702285	0.52811	23.3	0.98726296014014636	0.45274	0.94709	0.62060	D	ALL	0.454446	0.50715	N	0.157678953827229	0.49176	3.120946	0.0473142027856109	0.41941	2.528388	0.999999999999997	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	3.04	3.04	0.34171	-0.259000	0.08742	4.075000	0.41695	0.452000	0.21348	0.000000	0.06391	1.000000	0.68203	0.550000	0.30174	0.0:0.8726:0.0:0.1274	7.409	0.26180	610	0.67008	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002033	0.000000	0.001362	0.002924	0.000000	0.000000	0.003125	0.003788	0.07143	789.44	39	chr15	89750804	.	C	G	789.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.866;DP=302;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.74;ReadPosRankSum=0.249;SOR=0.776	GT:AD:DP:GQ:PL	0/1:64,38:102:99:800,0,1486	6	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5841.52	24	chr15	89776903	.	AGGGCAGGGGCAG	*	5841.52	.	AC=4;AF=0.286;AN=14;DP=222;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;QD=30.58;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,25:25:77:.:.:1121,77,0:.	4	1	2	0
chr16	1228762	1228762	G	A	exonic	TPSB2	.	nonsynonymous SNV	TPSB2:NM_024164:exon6:c.C716T:p.A239V	.	442	1078	2	0	0	2	0.000926784	.	.	.	2810765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.216	0.0391921706305	0.0019	0.000998403	0.0021	0.0007	0.0008	0	0.0008	0.0021	0	0.0052	0.0014424	223	154602	rs377518279	0.0023	0.0023	0.0022	0.0023	0.0043	0.0022	0.0022	0.0039	0.0038	0.0005	0.0007	0.0002	2.598e-05	0.0008	0.0002	0.0024	0.0018	0.0043	0.0015	0.0017	0.0016	0.0014	0.0024	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0011	0.0006	0	0.0004	0	0.0024	0	0.0006	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.013571	0.28799	N	0.162599	0.999953	0.19072	N	.	.	.	.	.	.	.	.	.	0.167	0.17691	-0.6302	0.63562	T	0.238	0.60499	T	9	0.0325495	0.01409	T	0.039192	0.58670	D	.	.	.	.	0.0716867268079	0.06686	0.26890481414157447	0.26803	.	.	0.407631844282	0.26128	T	.	.	.	-0.315429	0.07279	T	-0.225739	0.52182	T	0.0206872950787928	0.00768	T	0.858314	0.54891	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.45738	B	.;.	.;.	1.026983	0.14066	10.64	0.7093993899100236	0.09462	0.16731	0.19523	N	AEFGI	0.041476	0.06309	N	-0.433548995678859	0.24301	1.311179	-0.491490558151285	0.22387	1.215694	0.00129884366857155	0.08419	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.062806	0.01542	0	.	.	3.8	1.76	0.23776	0.072000	0.14482	-1.339000	0.05677	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.3609:0.0:0.6391:0.0	5.365	0.15410	923	0.18507	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004086	0.000000	0.002732	0.000000	0.000000	0.000000	0.006173	0.007576	0.07143	259.83	60	chr16	1228762	.	G	A	259.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.318;DP=330;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=47.02;MQRankSum=-0.8;QD=3.42;ReadPosRankSum=-0.366;SOR=0.83	GT:AD:DP:GQ:PL	0/1:59,17:76:99:270,0,1950	6	0	1	0
chr16	1242128	1242128	C	T	exonic	TPSAB1	.	nonsynonymous SNV	TPSAB1:NM_003294:exon6:c.C716T:p.A239V	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.433241821357	.	0.000399361	0.0006	0.0004	0	0.0002	0	0.0001	0	0.0039	7.68e-05	2	26028	rs528808259	0.0002	0.0003	0.0001	0.0003	0.0031	0.0002	0.0002	0.0027	0.0026	0.0005	0	0	5.119e-05	0	0.0006	3.801e-05	0.0001	0.0031	0.0001	0.0002	0.0001	0.0001	0.0008	7.877e-05	6.322e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	1.843e-05	0.0008	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.955	0.54515	P	0.144	0.33818	B	0.013571	0.28799	N	0.162599	0.905264	0.36271	D	-0.29	0.03673	N	-2.2	0.86888	D	0.73	0.02518	N	0.203	0.22486	-0.6284	0.63639	T	0.159	0.49346	T	10	0.11104089	0.20779	T	0.433242	0.94022	D	0.313	0.63482	.	.	0.267299060538	0.26338	0.43449987858078915	0.43366	2.37714289507	0.96994	0.445918679237	0.31387	T	0.204264	0.56298	T	-0.334636	0.05769	T	-0.257136	0.49110	T	0.0262940857280014	0.01445	T	0.858314	0.54891	D	0.04923348	0.08710	0.042608526	0.05114	0.04923348	0.08709	0.042608526	0.05113	-6.077	0.46919	T	.	.	0.217	0.44630	B	.;.;.	.;.;.	0.713020	0.10821	7.500	0.18322089282069842	0.00571	0.25834	0.22816	N	AEFI	0.114589	0.22564	N	-0.973644511028651	0.09169	0.4328615	-0.97730152549505	0.10296	0.5176444	1.34269192740841E-5	0.02871	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	3.08	2.12	0.26372	0.952000	0.28747	-20.000000	0.00162	-0.469000	0.05095	0.332000	0.25606	0.000000	0.08366	0.006000	0.07323	0.0:0.7292:0.0:0.2707	5.367	0.15423	906	0.23090	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	483.44	50	chr16	1242128	.	C	T	483.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.847;DP=344;ExcessHet=0;FS=7.005;MLEAC=1;MLEAF=0.071;MQ=43.84;MQRankSum=-3.628;QD=4.6;ReadPosRankSum=1.39;SOR=2.13	GT:AD:DP:GQ:PL	0/1:83,22:105:99:494,0,2942	6	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	418.93	32	chr16	1397277	.	A	*	418.93	.	AC=9;AF=0.75;AN=12;DP=345;ExcessHet=0.4139;FS=0.651;MLEAC=10;MLEAF=0.833;MQ=60;QD=1.76;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:17,34:51:99:.:.:1067,0,444:.	0	3	3	1
chr16	1974207	1974207	C	T	exonic	TBL3	.	nonsynonymous SNV	TBL3:NM_006453:exon3:c.C104T:p.T35I	.	413	1098	11	0	0	11	0.00498414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0429751778706	0.0002	0.000599042	0.0005	0	0.0003	0	0	0.0003	0.0024	0.0033	0.0004528	70	154602	rs140686526	0.0003	0.0003	0.0002	0.0004	0.0030	0.0003	0.0003	0.0026	0.0025	0	9.233e-05	0	2.54e-05	0	0.0021	0.0002	0.0003	0.0030	0.0002	0.0002	0.0002	0.0002	0.0023	0.0001	0.0001	0.0013	0.0010	2.405e-05	0	0	0	0	0	0	0.0002	0	0.0023	0.011	0.55530	D	0.003	0.76473	D	0.411	0.35101	B	0.07	0.27859	B	0.407104	0.13046	N	0.755539	0.999793	0.20333	N	1.5	0.37844	L	0.08	0.61559	T	-2.1	0.47852	N	0.391	0.43223	-1.0700	0.09413	T	0.045	0.19437	T	9	0.012393922	0.00266	T	0.042975	0.60744	D	.	.	.	.	0.737181652176	0.73483	0.3905156764911889	0.38966	0.16726596523	0.18862	0.404731631279	0.25726	T	0.054681	0.29794	T	-0.40724	0.02074	T	-0.363297	0.37670	T	0.0467984344662359	0.04929	T	0.743426	0.36288	T	0.06572455	0.14076	0.08647207	0.20036	0.06572455	0.14075	0.08647207	0.20036	-11.609	0.82894	D	.	.	0.184	0.39881	B	.	.	3.400269	0.47116	22.4	0.991513422580385	0.53820	0.77609	0.38178	D	AEFBI	0.159007	0.28474	N	-0.158463950374965	0.34877	1.996272	-0.0581749187034654	0.37138	2.170514	0.99922100046177	0.38808	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.53	3.43	0.38372	3.887000	0.55910	1.719000	0.28247	0.599000	0.40250	0.978000	0.35038	0.148000	0.23153	0.945000	0.48827	0.4209:0.4419:0.1372:0.0	6.745	0.22645	707	0.57054	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1621.44	36	chr16	1974207	.	C	T	1621.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.326;DP=468;ExcessHet=0;FS=2.268;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.106;SOR=0.925	GT:AD:DP:GQ:PL	0/1:60,65:125:99:1632,0,1433	6	0	1	0
chr16	1980535	1980535	A	T	exonic	NOXO1	.	nonsynonymous SNV	NOXO1:NM_001267721:exon4:c.T245A:p.L82Q,NOXO1:NM_144603:exon4:c.T230A:p.L77Q,NOXO1:NM_172167:exon4:c.T233A:p.L78Q,NOXO1:NM_172168:exon4:c.T248A:p.L83Q	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.280317146142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.29420	T	0.014	0.62352	D	0.814	0.46778	P	0.491	0.53665	P	0.161450	0.03041	N	1.635990	1	0.08975	N	2.095	0.58118	M	-0.57	0.71307	T	-1.93	0.45042	N	0.294	0.43995	-0.8364	0.52885	T	0.449	0.78419	T	10	0.2483531	0.42131	T	0.280317	0.90207	D	0.223	0.52023	0.305	0.27485	0.704923551402	0.70235	0.34549680149822243	0.34463	0.837230810491	0.67862	0.401064753532	0.25216	T	0.251846	0.62215	T	-0.0475947	0.44812	T	-0.306143	0.44072	T	0.41401199360087	0.29467	T	0.555444	0.19245	T	0.13354786	0.31058	0.13917483	0.33214	0.13354786	0.31058	0.13917483	0.33213	-5.186	0.40455	T	.	.	0.159	0.35119	B	.;.;.;.	.;.;.;.	2.350402	0.30131	18.34	0.93829906181452671	0.23816	0.21160	0.21303	N	AEFDBCIJ	0.126022	0.24278	N	-0.245290607676764	0.31291	1.753144	-0.414924617725761	0.24559	1.345522	0.999996381013092	0.74766	0.764865	0.99124	0	0.550933	0.16991	0	0.503968	0.08637	0	0.767244	0.99903	0	.	.	5.12	4.01	0.45821	0.019000	0.13337	4.738000	0.44591	0.751000	0.87719	0.000000	0.06391	0.241000	0.23851	0.159000	0.20615	0.6643:0.1713:0.0:0.1643	5.975	0.18608	745	0.52414	.;.;Phox homologous domain|Phox homologous domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	769.53	33	chr16	1980535	.	A	T	769.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.589;DP=224;ExcessHet=0;FS=3.433;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.557;SOR=0.724	GT:AD:DP:GQ:PL	0/1:32,31:63:99:780,0,761	6	0	1	0
chr16	2033364	2033364	G	A	exonic	SLC9A3R2	.	nonsynonymous SNV	SLC9A3R2:NM_001252073:exon1:c.G13A:p.G5R,SLC9A3R2:NM_001252075:exon1:c.G13A:p.G5R,SLC9A3R2:NM_001252076:exon1:c.G13A:p.G5R	.	421	1094	7	0	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00319489	0.0006	0.0147	0	0	.	0.0004	0	0.0003	0.0001811	28	154602	rs575900421	0.0005	0.0005	0.0005	0.0005	0.0104	0.0005	0.0005	0.0095	0.0091	0.0104	0.0011	0	0	0	0.0022	0.0002	0.0011	0.0006	0.0028	0.0028	0.0030	0.0027	0.0095	0.0026	0.0025	0.0087	0.0084	0.0095	0	0.0011	0	0	0	0.0034	0.0002	0.0014	0.0004	1.0	0.02718	T	0.011	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.18878	N	.	.	.	1.86	0.25018	T	-0.51	0.17210	N	0.102	0.08506	.	.	.	.	.	.	.	0.0036082864	0.00065	T	.	.	.	.	.	.	.	0.412587454835	0.40873	.	.	.	.	.	.	.	0.01989	0.15761	T	-0.631094	0.00094	T	-0.672476	0.07450	T	.	.	.	0.572743	0.20478	T	.	.	.	.	.	.	.	.	-2.796	0.08147	T	.	.	0.165	0.36335	B	.;.	.;.	0.554931	0.09233	6.017	0.92997504049070678	0.22586	0.01151	0.04161	N	AEFDGBHCI	0.094172	0.19044	N	.	.	.	.	.	.	0.999999993447878	0.74766	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.372554	0.06265	0	.	.	3.8	-2.41	0.06184	-1.615000	0.02158	1.091000	0.23980	-0.124000	0.13482	0.000000	0.06391	0.468000	0.25038	0.008000	0.08271	0.4614:0.0:0.3628:0.1758	3.631	0.07672	675	0.60470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	635.49	27	chr16	2033364	.	G	A	635.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.583;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.5;ReadPosRankSum=-0.757;SOR=0.65	GT:AD:DP:GQ:PL	0/1:14,27:41:99:646,0,296	6	0	1	0
chr16	2187063	2187063	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon9:c.C845T:p.A282V	.	.	.	.	.	.	.	.	.	.	.	2357114	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.301	0.0415735486965	8.2e-05	.	2.502e-05	0	0	0	0	4.543e-05	0	0	1.94e-05	3	154602	rs369517711	2.806e-05	2.873e-05	2.724e-05	2.889e-05	0.0002	2.087e-05	1.879e-05	2.083e-05	1.782e-05	0	0	3.828e-05	0	0	0.0002	2.878e-05	0.0001	0	7.887e-05	7.88e-05	7.71e-05	8.072e-05	0.0001	4.498e-05	3.513e-05	4.766e-05	3.34e-05	9.652e-05	0	0	0.0003	0	0	0	0.0001	0	0	0.066	0.36113	T	0.009	0.66756	D	0.995	0.67487	D	0.836	0.59919	P	.	.	.	.	0.999995	0.58761	D	1.905	0.50856	L	-0.37	0.68892	T	-2.84	0.59873	D	0.527	0.55626	-0.3900	0.72342	T	0.316	0.68558	T	9	0.36108917	0.52737	T	0.041574	0.60002	D	0.301	0.62179	.	.	0.650018665118	0.64711	0.7427933353591443	0.74225	0.944256503279	0.72345	0.665437459946	0.62186	T	0.066403	0.32937	T	-0.246077	0.14584	T	-0.375914	0.36199	T	0.457394367318163	0.31070	T	0.839416	0.51368	T	0.15614083	0.35251	0.21080692	0.45483	0.15614083	0.35251	0.21080692	0.45482	-12.172	0.85679	D	.	.	0.205	0.43088	B	.	.	4.843760	0.79105	27.0	0.99902116571198796	0.97350	0.73945	0.36169	D	AEFBI	0.423752	0.48920	N	0.244017321443299	0.53342	3.503657	0.206603436717673	0.50212	3.215763	0.999997849428455	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.81	4.81	0.61401	1.759000	0.38049	7.521000	0.59763	0.676000	0.76740	0.719000	0.28811	1.000000	0.68203	0.178000	0.21234	0.0:0.0:1.0:0.0	16.600	0.84665	654	0.62520	SH3 domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001008	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1008.45	36	chr16	2187063	.	G	A	1008.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.269;DP=277;ExcessHet=0;FS=0.779;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=2.12;SOR=0.724	GT:AD:DP:GQ:PL	0/1:52,42:94:99:1019,0,1256	6	0	1	0
chr16	2453450	2453450	C	T	exonic	CCNF	.	nonsynonymous SNV	CCNF:NM_001323538:exon14:c.C704T:p.T235I,CCNF:NM_001761:exon15:c.C1628T:p.T543I	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0140012083216	.	.	8.27e-06	0	0	0	0	1.507e-05	0	0	6.5e-06	1	154602	rs756914411	1.095e-05	1.094e-05	8.168e-06	1.375e-05	0.0002	6.48e-06	5.24e-06	9.24e-06	4.56e-06	0	0	3.826e-05	0	0	0.0002	6.295e-06	6.624e-05	3.478e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	4.828e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.828e-05	0	0	0.0003	0	0	0	1.471e-05	0	0	0.024	0.47745	D	0.132	0.34477	T	0.13	0.27095	B	0.043	0.24256	B	0.012791	0.29054	N	0.404642	1	0.08975	N	0	0.06538	N	1.92	0.23082	T	-1.08	0.28084	N	0.733	0.73375	-1.0322	0.19745	T	0.028	0.12014	T	10	0.43384826	0.57665	T	0.014001	0.33816	T	0.033	0.08068	0.329	0.31357	0.812780994167	0.81102	0.18211160250140376	0.18130	0.2470217962	0.27239	0.426400125027	0.28717	T	0.133706	0.46454	T	-0.422253	0.01655	T	-0.662786	0.08079	T	0.0325455706213846	0.02395	T	0.675032	0.28342	T	0.044715922	0.07196	0.044455793	0.05764	0.044715922	0.07196	0.044455793	0.05763	-5.721	0.43880	T	0.12899921847087084	0.13426	0.114	0.22753	B	.	.	1.274558	0.16738	12.73	0.91715376249635683	0.21011	0.63868	0.32224	D	AEFBI	0.209597	0.33556	N	-0.95470347732574	0.09587	0.4544071	-0.904663330088351	0.11984	0.6138395	0.78964570685932	0.23992	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.92	1.31	0.20837	2.116000	0.41553	4.492000	0.43575	-0.136000	0.12710	0.953000	0.33222	0.999000	0.35428	0.016000	0.10718	0.4567:0.4608:0.0825:0.0	7.268	0.25414	725	0.54935	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1556.44	35	chr16	2453450	.	C	T	1556.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.431;DP=340;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.249;SOR=0.696	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1567,0,1868	6	0	1	0
chr16	3026272	3026272	C	T	exonic	THOC6	.	nonsynonymous SNV	THOC6:NM_001142350:exon5:c.C346T:p.R116C,THOC6:NM_024339:exon5:c.C346T:p.R116C,THOC6:NM_001347703:exon6:c.C274T:p.R92C,THOC6:NM_001347704:exon6:c.C346T:p.R116C	Beaulieu-Boycott-Innes syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0295790687759	7.7e-05	.	4.123e-05	0	0.0002	0	0	2.999e-05	0	6.056e-05	3.23e-05	5	154602	rs374952281	7.525e-06	7.524e-06	5.445e-06	9.626e-06	8.944e-05	4.04e-06	2.95e-06	2.985e-05	1.804e-05	0	8.944e-05	0	2.519e-05	0	0	2.698e-06	1.656e-05	2.319e-05	6.574e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.024	0.56640	D	0.023	0.77913	B	0.002	0.59428	B	0.000008	0.62929	N	0.103831	0.999848	0.50402	D	1.78	0.46185	L	1.61	0.28391	T	-0.11	0.08653	N	0.405	0.46274	-1.0545	0.13172	T	0.111	0.39935	T	10	0.18333688	0.33656	T	0.029579	0.52060	D	0.111	0.31313	.	.	0.451118754121	0.44735	0.5149417651871719	0.51417	0.130440611418	0.14714	0.414686620235	0.27105	T	0.03269	0.22596	T	-0.268725	0.11899	T	-0.42681	0.30299	T	0.150590851902962	0.17150	T	0.905609	0.67884	D	0.48036888	0.65923	0.103681825	0.24883	0.48036888	0.65924	0.103681825	0.24883	-6.861	0.55811	T	0.7093450235173921	0.78934	0.112	0.35519	B	.;.;.;.	.;.;.;.	2.921471	0.38785	20.8	0.97351090445525201	0.33525	0.14747	0.18564	N	AEFBCI	0.178324	0.30558	N	-0.273761379760645	0.30164	1.679445	-0.295370710201705	0.28252	1.573659	0.999838346365954	0.43792	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	4.59	0.56297	0.938000	0.28562	.	.	0.599000	0.40250	0.063000	0.21864	0.999000	0.35428	0.125000	0.19370	0.0:0.9176:0.0:0.0824	12.423	0.54867	721	0.55360	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4160.26	47	chr16	3026272	.	C	T	4160.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.53;DP=488;ExcessHet=0.3476;FS=4.479;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.771;SOR=0.94	GT:AD:DP:GQ:PL	0/1:75,73:148:99:2020,0,1933	5	0	2	0
chr16	3655478	3655478	G	C	exonic	DNASE1	.	nonsynonymous SNV	DNASE1:NM_005223:exon2:c.G105C:p.E35D,DNASE1:NM_001351825:exon3:c.G105C:p.E35D	.	409	1101	11	1	0	13	0.00586907	.	.	.	2811000	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.00420915607097	0.0043	0.00179712	0.0040	0.0011	0.0024	0	0.0077	0.0057	0.0066	0.0002	0.0039391	609	154602	rs34907394	0.0048	0.0048	0.0048	0.0048	0.0094	0.0047	0.0047	0.0074	0.0067	0.0007	0.0030	0.0031	0	0.0066	0.0094	0.0054	0.0039	0.0007	0.0036	0.0036	0.0033	0.0039	0.0054	0.0033	0.0032	0.0050	0.0048	0.0007	0	0.0037	0.0020	0	0.0062	0.0068	0.0054	0.0057	0.0004	0.719	0.03937	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.001348	0.39310	N	0.284400	1	0.81001	D	1.63	0.41750	L	0.32	0.58468	T	1.59	0.00660	N	0.156	0.16168	-1.0771	0.07922	T	0.057	0.23904	T	10	0.0064407587	0.00146	T	0.004209	0.10153	T	0.020	0.03691	0.37	0.38013	0.421550847248	0.41774	0.6230731396441008	0.62240	0.00669680874539	0.00592	0.41994330287	0.27828	T	0.070235	0.33909	T	-0.520298	0.00438	T	-0.51712	0.20587	T	0.00266594604911538	0.00028	T	0.728927	0.34400	T	0.25621912	0.48660	0.0993211	0.23709	0.25621912	0.48660	0.0993211	0.23708	-3.947	0.23008	T	.	.	0.163	0.35972	B	.;.	.;.	1.060269	0.14419	10.99	0.89907885940127696	0.19208	0.44793	0.27396	N	AEFBCI	0.113087	0.22328	N	-0.784045462461887	0.13725	0.6782469	-0.608971251152748	0.19262	1.032697	0.999670807394452	0.41644	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.491896	0.07777	0	.	.	5.39	2.35	0.28166	0.603000	0.23848	.	.	-0.113000	0.14837	0.978000	0.35038	0.966000	0.29516	0.993000	0.69303	0.1622:0.1532:0.5448:0.1399	2.783	0.05036	596	0.68392	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.008152	0.014620	0.000000	0.017241	0.003049	0.003788	0.1429	3353.29	34	chr16	3655478	.	G	C	3353.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.594;DP=450;ExcessHet=0.3476;FS=2.462;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=2.93;SOR=0.722	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1646,0,2013	5	0	2	0
chr16	4657266	4657266	C	T	exonic	MGRN1	.	nonsynonymous SNV	MGRN1:NM_001142289:exon5:c.C464T:p.S155L,MGRN1:NM_001142290:exon5:c.C464T:p.S155L,MGRN1:NM_001142291:exon5:c.C464T:p.S155L,MGRN1:NM_015246:exon5:c.C464T:p.S155L	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0091298527593	.	0.00139776	0.0007	0.0002	8.64e-05	0	0	4.498e-05	0	0.0047	0.000608	94	154602	rs201648809	0.0003	0.0003	0.0002	0.0004	0.0038	0.0002	0.0002	0.0034	0.0033	0	4.472e-05	0.0002	7.558e-05	0	0.0010	2.698e-05	0.0003	0.0038	0.0001	0.0001	0.0001	0.0002	0.0037	9.736e-05	8.251e-05	0.0024	0.0020	0	0	6.534e-05	0	0	0	0	4.411e-05	0	0.0037	0.109	0.43085	T	0.163	0.35970	T	0.005	0.14184	B	0.008	0.13708	B	0.075984	0.21190	N	0.555550	1	0.08975	N	1.04	0.26193	L	1.48	0.31731	T	-3.9	0.72932	D	0.343	0.39254	-1.0368	0.18295	T	0.039	0.16849	T	10	0.0054759383	0.00121	T	0.00913	0.24012	T	0.031	0.07369	0.284	0.24121	0.115124310173	0.11017	0.1584534197375775	0.15766	0.0339777382968	0.03563	0.307101517916	0.11468	T	0.183717	0.84764	T	-0.611745	0.00124	T	-0.650965	0.08887	T	0.0302469440221988	0.02027	T	0.787421	0.45238	T	0.056994673	0.11285	0.07032015	0.14926	0.056994673	0.11284	0.07032015	0.14925	-10.735	0.79680	D	.	.	0.056	0.27702	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.883949	0.23932	16.20	0.90134510730098505	0.19414	0.17129	0.19702	N	AEFBCI	0.103458	0.20726	N	-1.25508898639113	0.04232	0.1906414	-1.22985918223021	0.05435	0.2590046	0.00586380301297077	0.11064	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.22	2.19	0.26890	1.639000	0.36791	0.791000	0.21569	-1.985000	0.00459	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.2929:0.55:0.0:0.1571	5.016	0.13679	659	0.61982	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	914.44	33	chr16	4657266	.	C	T	914.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.027;DP=247;ExcessHet=0;FS=4.632;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0;SOR=0.814	GT:AD:DP:GQ:PL	0/1:32,39:71:99:925,0,697	6	0	1	0
chr16	8644669	8644669	G	A	exonic	METTL22	.	nonsynonymous SNV	METTL22:NM_024109:exon10:c.G1123A:p.E375K	.	432	1077	13	0	0	13	0.00599908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	0.0056	0.00359425	0.0055	0.0009	0.0034	0	0.0144	0.0072	0.0058	0.0018	0.0052263	808	154602	rs55747257	0.0061	0.0061	0.0061	0.0062	0.0066	0.0060	0.0060	0.0065	0.0065	0.0010	0.0034	0.0059	0	0.0138	0.0045	0.0066	0.0054	0.0019	0.0055	0.0055	0.0051	0.0060	0.0070	0.0052	0.0051	0.0065	0.0063	0.0011	0	0.0048	0.0078	0	0.0177	0.0068	0.0070	0.0085	0.0014	0.317	0.18371	T	0.31	0.42976	T	0.533	0.37766	P	0.148	0.34065	B	0.000040	0.55875	D	0.119927	0.999999	0.58761	D	2.415	0.69758	M	2.18	0.31205	T	-1.57	0.37955	N	0.672	0.67995	-1.1263	0.01967	T	0.043	0.18368	T	10	0.0074471235	0.00169	T	.	.	.	0.086	0.25016	.	.	0.318540980066	0.31459	0.6970033788334739	0.69641	0.0219975581885	0.02206	0.454305291176	0.32533	T	0.002403	0.18459	T	-0.224012	0.17449	T	-0.0897088	0.64183	T	0.0149081626491843	0.00317	T	0.910709	0.68343	D	0.16271044	0.36365	0.20153543	0.44139	0.16271044	0.36365	0.20153543	0.44138	-9.845	0.72978	D	.	.	0.122	0.42606	B	.;.;.	.;.;.	3.676698	0.52308	23.2	0.99866159365050755	0.94457	0.95031	0.63186	D	AEFDBHCIJ	0.578372	0.57960	D	0.196895028551257	0.51050	3.289455	0.317079855366677	0.56543	3.817764	1.0	0.98316	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.47	5.47	0.80345	4.465000	0.59876	6.276000	0.55373	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.746000	0.35646	0.0:0.0:1.0:0.0	16.039	0.80454	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.000000	0.005435	0.008772	0.000000	0.025862	0.012195	0.000000	0.07143	923.46	44	chr16	8644669	.	G	A	923.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.46;DP=416;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-1.355;SOR=0.643	GT:AD:DP:GQ:PL	0/1:44,36:80:99:934,0,1066	6	0	1	0
chr16	11494649	11494649	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon11:c.G1357A:p.G453S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1389068120	1.214e-05	7.952e-06	1.643e-05	7.975e-06	1.262e-05	3.23e-06	9e-07	2.1e-06	7.9e-07	0	0	0	0	0	0	1.262e-05	6.094e-05	0	6.572e-06	6.567e-06	0	1.346e-05	2.414e-05	0	0	.	.	2.414e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09455955	0.16823	T	.	.	.	.	.	.	.	0.622937828947	0.61987	.	.	.	.	.	.	.	.	.	.	-0.129432	0.31588	T	-0.423697	0.30653	T	.	.	.	0.371963	0.08817	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	-1.405647	0.00356	0.006	0.70692745237193044	0.09379	0.00186	0.01083	N	AEFDBI	0.021900	0.01031	N	.	.	.	.	.	.	0.999697535481898	0.41870	0.495158	0.18159	0	0.624146	0.53433	0	0.535252	0.11790	0	0.635259	0.50027	0	.	.	4.22	-1.66	0.07824	-0.946000	0.04015	-9.031000	0.00877	-0.984000	0.01883	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.182:0.2776:0.5404	4.909	0.13166	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	786.83	33	chr16	11494649	.	C	T	786.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=241;ExcessHet=0;FS=0.898;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.464;SOR=0.624	GT:AD:DP:GQ:PL	0/1:39,33:72:99:797,0,878	6	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	551.23	39	chr16	14582206	.	G	C	551.23	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-2.814;DP=853;ExcessHet=3.1439;FS=358.834;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.89;ReadPosRankSum=1.7;SOR=11.434	GT:AD:DP:GQ:PL	0/1:87,50:164:99:145,0,1183	2	0	4	1
chr16	18324497	18324497	A	C	exonic	NPIPA7;NPIPA8	.	nonsynonymous SNV	NPIPA7:NM_001282507:exon3:c.T194G:p.V65G,NPIPA8:NM_001282511:exon4:c.T194G:p.V65G	.	766	727	19	10	0	39	0.0261219	0.0004	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	.	.	0.00339457	0.0124	0	0	0	0	0.0168	0.1	0.0106	0.0006531	17	26028	rs562309429	0.0057	0.0057	0.0047	0.0065	0.0198	0.0055	0.0054	0.0188	0.0184	0.0009	0.0030	0.0112	0	0.0011	0.0184	0.0041	0.0057	0.0198	0.0041	0.0041	0.0038	0.0044	0.0213	0.0037	0.0035	0.0164	0.0147	0.0013	0	0.0021	0.0115	0	0.0006	0.0225	0.0042	0.0067	0.0213	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	0.54347	T	-4.81	0.80767	D	0.497	0.53006	-0.6936	0.60740	T	0.178	0.52350	T	3	0.014665723	0.00308	T	.	.	.	0.175	0.44197	.	.	0.302459207581	0.29844	0.019284102858280108	0.01882	.	.	.	.	.	0.091902	0.38892	T	-0.332444	0.05928	T	-0.26354	0.48469	T	0.0654364969637405	0.07995	T	.	.	.	0.5432569	0.69578	0.5640874	0.74772	0.5432569	0.69580	0.5640874	0.74773	-3.675	0.18950	T	.	.	0.375	0.59606	A	.;.	.;.	2.277649	0.29118	18.02	0.97365626384824433	0.33598	0.03196	0.08188	N	AEFI	0.057269	0.10653	N	0.124761660474647	0.47620	2.985151	-0.308007490123161	0.27839	1.547661	1.10566401661356E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.741000	0.25870	-0.174000	0.11198	0.232000	0.18153	0.998000	0.41325	0.000000	0.08366	0.052000	0.15357	.	.	.	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1667	636.23	8	chr16	18324497	.	A	C	636.23	.	AC=2;AF=0.167;AN=12;DP=89;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.167;MQ=28.97;QD=27.66;SOR=1.426	GT:AD:DP:GQ:PL	1/1:0,23:23:69:655,69,0	5	1	0	1
chr16	20460184	20460184	T	C	exonic	ACSM2A	.	nonsynonymous SNV	ACSM2A:NM_001308172:exon2:c.T70C:p.Y24H,ACSM2A:NM_001308954:exon3:c.T70C:p.Y24H	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00113970870599	0.0008	0.00119808	0.0008	9.775e-05	0.0004	0	0.0003	0.0012	0.0011	0.0010	7.76e-05	12	154602	rs140129240	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0009	0.0011	0.0011	0.0002	0.0004	0	0	0.0006	0	0.0012	0.0007	0.0010	0.0007	0.0007	0.0007	0.0007	0.0011	0.0006	0.0005	0.0009	0.0009	0.0002	0	0.0008	0	0	0.0002	0	0.0011	0.0005	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.770098	0.09554	N	0.872433	1	0.08975	N	-1.92	0.00231	N	0.79	0.49068	T	1.57	0.00677	N	0.157	0.16447	-1.0021	0.29313	T	0.027	0.11397	T	10	0.0076886415	0.00175	T	0.00114	0.01410	T	0.022	0.04323	.	.	0.17258766438	0.16869	0.5575803994993623	0.55685	0.366955075449	0.38266	0.28495568037	0.08193	T	0.007704	0.07089	T	-0.572767	0.00213	T	-0.641068	0.09590	T	0.00957859101537145	0.00124	T	0.367963	0.08605	T	0.02713948	0.01864	0.029394003	0.01272	0.02713948	0.01864	0.029394003	0.01271	-1.785	0.02465	T	.	.	0.059	0.04002	B	.;.;.;.;.;.	.;.;.;.;.;.	0.010012	0.04351	1.113	0.65815914652677776	0.07880	0.00019	0.00214	N	AEFI	0.063244	0.12210	N	-1.63402391053204	0.01104	0.04793333	-1.60707527099555	0.01613	0.07317113	1.08070360728196E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.28	-1.7	0.07721	0.997000	0.29333	-0.820000	0.07299	-0.880000	0.02471	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.1687:0.5424:0.0:0.2889	3.824	0.08360	783	0.47268	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000616	0.000000	0.000000	0.000000	0.000000	0.000000	0.004000	0.000000	0.07143	2100.53	40	chr16	20460184	.	T	C	2100.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.738;DP=343;ExcessHet=0;FS=2.281;MLEAC=1;MLEAF=0.071;MQ=46.53;MQRankSum=-1.871;QD=15.22;ReadPosRankSum=-1.968;SOR=0.517	GT:AD:DP:GQ:PL	0/1:53,85:138:99:2111,0,1308	6	0	1	0
chr16	20739050	20739050	G	A	exonic	THUMPD1	.	nonsynonymous SNV	THUMPD1:NM_001304550:exon2:c.C253T:p.P85S,THUMPD1:NM_017736:exon2:c.C253T:p.P85S	.	434	1086	2	0	0	2	0.000919963	.	.	.	2355166	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0102659699179	0.0005	0.000199681	0.0004	0.0002	0.0005	0	0	0.0004	0.0011	0.0010	0.0004657	72	154602	rs142407123	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0008	0.0008	8.962e-05	0.0004	0	0	0.0002	0	0.0008	0.0004	0.0010	0.0004	0.0004	0.0005	0.0004	0.0007	0.0004	0.0003	0.0005	0.0005	0.0001	0	0.0007	0	0	0.0002	0	0.0007	0	0.0006	0.491	0.07969	T	0.968	0.02496	T	0.001	0.07471	B	0.001	0.04355	B	0.351808	0.13804	N	0.732597	0.999998	0.18612	N	0.64	0.16041	N	0.94	0.43672	T	0.07	0.06138	N	0.147	0.14905	-1.0087	0.27323	T	0.046	0.19800	T	10	0.012063533	0.00261	T	0.010266	0.26610	T	0.017	0.02790	.	.	0.577073266457	0.57376	0.13763478296698203	0.13687	0.181131972731	0.20371	0.245642244816	0.03323	T	0.003429	0.02839	T	-0.623834	0.00104	T	-0.725218	0.04548	T	0.00108875648342033	0.00011	T	0.477752	0.14377	T	0.027080746	0.01850	0.03621934	0.03024	0.027080746	0.01849	0.03621934	0.03024	-0.547	0.00613	T	.	.	0.068	0.02639	B	.;.	.;.	0.929472	0.13044	9.551	0.77797024698252282	0.12026	0.68048	0.33656	D	AEFDBCI	0.087390	0.17719	N	-0.830233508187111	0.12542	0.611991	-0.660797907178942	0.17945	0.9564286	0.999650073259783	0.41424	0.67177	0.52595	0	0.662677	0.63036	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.4	1.22	0.20300	0.921000	0.28338	2.119000	0.30708	-0.153000	0.12021	0.492000	0.26894	0.068000	0.22166	0.941000	0.48210	0.1774:0.1176:0.584:0.1209	3.793	0.08247	184	0.92813	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.07143	1430.44	36	chr16	20739050	.	G	A	1430.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.171;DP=313;ExcessHet=0;FS=3.895;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.289;SOR=1.112	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1441,0,1623	6	0	1	0
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	426.24	4	chr16	21404235	.	GC	G	426.24	.	AC=8;AF=1;AN=8;DP=17;ExcessHet=0;FS=0;MLEAC=9;MLEAF=1;MQ=27.33;QD=27.5;SOR=4.977	GT:AD:DP:GQ:PL	1/1:0,3:3:9:112,9,0	0	4	0	3
chr16	23529545	23529545	C	T	exonic	EARS2	.	nonsynonymous SNV	EARS2:NM_001083614:exon7:c.G1309A:p.A437T,EARS2:NM_001308211:exon7:c.G1309A:p.A437T	Combined oxidative phosphorylation deficiency 12, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0189521567513	.	.	1.676e-05	0	0	0	0	1.512e-05	0	6.121e-05	1.29e-05	2	154602	rs781117573	6.157e-06	6.156e-06	5.445e-06	6.876e-06	0.0005	2.9e-06	2.1e-06	0.0001	7.541e-05	2.987e-05	0	0	0	0	0.0005	1.799e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.576	0.06381	T	0.524	0.10317	T	0.004	0.12183	B	0.002	0.06944	B	0.105534	0.19654	N	0.583047	0.999999	0.08975	N	0.44	0.12706	N	0.87	0.46412	T	0.33	0.03889	N	0.115	0.10340	-1.0379	0.17954	T	0.048	0.20315	T	10	0.056969404	0.06469	T	0.018952	0.41175	T	0.034	0.08419	0.291	0.25241	0.426436156839	0.42259	0.145181103287358	0.14441	0.161394448648	0.18220	0.256297856569	0.04459	T	0.07303	0.34599	T	-0.409164	0.02013	T	-0.728658	0.04388	T	0.022335096400016	0.00946	T	0.659534	0.26859	T	0.01601902	0.00171	0.032114975	0.01899	0.01601902	0.00171	0.032114975	0.01898	-4.304	0.28232	T	0.1330994074479847	0.14253	0.074	0.05231	B	.;.;.;.	.;.;.;.	0.301241	0.06771	3.286	0.66831127544345281	0.08174	0.04582	0.10231	N	AEFDBI	0.040728	0.06096	N	-1.00411429270167	0.08518	0.3996847	-0.972329761320941	0.10409	0.5240921	0.997791014420968	0.36039	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	0.99	0.18926	0.015000	0.13250	-2.395000	0.03808	0.587000	0.30956	0.000000	0.06391	0.000000	0.08366	0.055000	0.15596	0.1846:0.3396:0.0:0.4758	3.426	0.06982	309	0.87553	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1079.63	40	chr16	23529545	.	C	T	1079.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.563;DP=294;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=0.677;SOR=0.714	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1090,0,894	6	0	1	0
chr16	29383427	29383427	T	C	exonic	NPIPB11	.	nonsynonymous SNV	NPIPB11:NM_001310137:exon8:c.A1505G:p.H502R	.	674	809	29	8	2	47	0.0270595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	.	.	.	0.0826	0.5	0	.	0	0.0484	0	0.1630	7.68e-05	2	26028	rs77403205	0.0033	0.0031	0.0028	0.0037	0.0300	0.0031	0.0030	0.0265	0.0251	0.0033	0.0087	0.0022	0.0300	0.0016	0.0018	0.0014	0.0027	0.0086	0.0009	0.0005	0.0013	0.0006	0.0012	0.0003	0.0001	0.0002	8.718e-05	0	0	0	0.0111	0	0	0	0.0012	0	0	0.862	0.02658	T	0.416	0.14284	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.695	0.01866	N	2.39	0.15724	T	0.98	0.01447	N	0.022	0.00372	-0.9531	0.40433	T	0.015	0.06282	T	4	0.0016781092	0.00021	T	.	.	.	0.101	0.28911	0.155	0.05858	.	.	0.018486071411131396	0.01802	.	.	.	.	.	0.002524	0.01914	T	-0.454797	0.01058	T	-0.891061	0.00568	T	0.0150007129087241	0.00322	T	0.428457	0.11587	T	0.051112827	0.09338	0.10343577	0.24818	0.051112827	0.09337	0.10343577	0.24817	0.315	0.00255	T	.	.	0.091	0.13174	B	.	.	-0.130205	0.03466	0.643	0.31851799518974977	0.01816	0.00096	0.00628	N	AEFDI	0.031964	0.03522	N	-0.523483715401697	0.21323	1.130716	-0.568996682795784	0.20303	1.093282	1.09648973830877E-6	0.01202	0.553676	0.25195	0	0.601575	0.49859	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	.	.	.	-0.909000	0.04167	-2.619000	0.03542	-2.558000	0.00246	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	774	0.48577	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.125	439.5	31	chr16	29383427	.	T	C	439.5	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-1.523;DP=461;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.125;MQ=50.75;MQRankSum=-0.846;QD=23.13;ReadPosRankSum=-2.35;SOR=0.941	GT:AD:DP:GQ:PL	0/1:3,16:19:52:447,0,52	3	0	1	3
chr16	29485712	29485712	G	C	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.C764G:p.S255C	.	617	900	5	0	0	5	0.00277008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00244857138788	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338707283	0.0016	0.0027	0.0015	0.0016	0.0029	0.0015	0.0014	0.0025	0.0023	0.0007	0.0002	0.0052	0.0029	0.0015	0.0010	0.0012	0.0018	0.0028	0.0022	0.0024	0.0025	0.0018	0.0024	0.0019	0.0018	0.0020	0.0019	0.0012	0	0.0013	0.0104	0.0010	0.0032	0	0.0024	0.0016	0.0019	0.061	0.37118	T	0.053	0.47336	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	0.45	0.56446	T	-2.22	0.49846	N	0.089	0.06720	-0.9485	0.41228	T	0.135	0.45049	T	4	0.015255958	0.00320	T	0.002449	0.04840	T	0.050	0.13987	0.402	0.43245	0.1749357433	0.17121	.	.	.	.	.	.	.	.	.	.	-0.183979	0.23146	T	-0.502049	0.22134	T	0.0180415985113084	0.00528	T	0.512349	0.16405	T	.	.	.	.	.	.	.	.	-4.897	0.35701	T	.	.	0.147	0.42763	B	.;.	.;.	1.502809	0.19314	14.20	0.96065677485578227	0.28608	0.00309	0.01636	N	AEFI	0.042538	0.06613	N	-0.762148880560643	0.14305	0.7115088	-1.00452816158071	0.09685	0.4832972	1.09537333666636E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	.	.	.	0.133000	0.15736	0.117000	0.14863	0.194000	0.17875	0.011000	0.18532	0.000000	0.08366	0.001000	0.02609	.	.	.	749	0.51929	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	79.63	22	chr16	29485712	.	G	C	79.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.04;DP=239;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=29.15;MQRankSum=-2.155;QD=1.17;ReadPosRankSum=0.095;SOR=0.034	GT:AD:DP:GQ:PL	0/1:58,10:68:90:90,0,1663	6	0	1	0
chr16	30376692	30376692	A	G	exonic	MYLPF	.	nonsynonymous SNV	MYLPF:NM_013292:exon5:c.A350G:p.K117R,MYLPF:NM_001324458:exon7:c.A350G:p.K117R,MYLPF:NM_001324459:exon7:c.A350G:p.K117R	.	415	1102	5	0	0	5	0.00226347	.	.	.	3310777	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.493	0.074159892239	0.0002	0.000199681	0.0003	0.0001	0	0	0	0.0004	0.0012	0.0004	0.0002458	38	154602	rs201552895	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0	0.0002	0.0037	0	0	0.0026	0.0001	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	2.407e-05	0	0.0007	0.0049	0	0	0.0068	0.0002	0	0.0004	0.004	0.65419	D	0.176	0.31326	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047553	1	0.81001	D	1.675	0.43121	L	-1.21	0.78645	T	-1.41	0.41239	N	0.349	0.39052	-0.4577	0.70145	T	0.353	0.71627	T	10	0.016798884	0.00356	T	0.07416	0.71972	D	0.493	0.77910	.	.	0.890197383101	0.88911	0.7784218383488222	0.77792	0.451854518662	0.44925	0.621175348759	0.55895	T	0.024701	0.61020	T	-0.122614	0.32698	T	-0.107927	0.62777	T	0.041094613169768	0.03889	T	0.525647	0.58316	T	0.32441	0.55010	0.32451844	0.58375	0.32441	0.55010	0.32451844	0.58374	-7.001	0.54041	T	.	.	0.080	0.22354	B	.;.;.;.	.;.;.;.	3.915180	0.57123	23.8	0.9965256039087973	0.77380	0.99260	0.93590	D	AEFDGBI	0.918877	0.88858	D	0.0432102718998163	0.43831	2.668385	0.184767528060638	0.49012	3.10966	0.999999999995378	0.74766	0.653281	0.48532	0	0.550933	0.16991	0	0.675528	0.61593	0	0.633917	0.49826	0	.	.	4.99	4.99	0.65942	5.374000	0.65920	11.206000	0.89223	0.677000	0.82338	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	1.0:0.0:0.0:0.0	13.684	0.61983	179	0.93046	EF-hand domain;EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain;EF-hand domain|EF-hand domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	546.46	25	chr16	30376692	.	A	G	546.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.505;DP=202;ExcessHet=0;FS=3.169;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.732;SOR=1.561	GT:AD:DP:GQ:PL	0/1:17,20:37:99:557,0,453	6	0	1	0
chr16	30532740	30532740	G	A	exonic	ZNF747	.	nonsynonymous SNV	ZNF747:NM_001305018:exon3:c.C755T:p.A252V,ZNF747:NM_001305019:exon3:c.C752T:p.A251V	.	401	1085	34	2	0	38	0.0172101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	.	0.00479233	0.0201	0.0010	0.0036	0.0035	0	0.0058	0.0141	0.0323	0.0028848	446	154602	rs62056326	0.0023	0.0022	0.0014	0.0031	0.0269	0.0022	0.0022	0.0259	0.0255	6.326e-05	0.0018	0.0100	8.377e-05	0	0.0105	0.0004	0.0031	0.0269	0.0016	0.0016	0.0011	0.0020	0.0244	0.0014	0.0013	0.0209	0.0195	0.0003	0	0.0018	0.0104	0.0006	0	0	0.0005	0.0033	0.0244	0.306	0.14207	T	0.326	0.18789	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.1	0.19990	T	-1.61	0.38734	N	0.264	0.29889	-1.0208	0.23454	T	0.035	0.14987	T	6	0.007573873	0.00172	T	.	.	.	.	.	.	.	0.330069100803	0.32608	0.2211802338393261	0.22033	.	.	.	.	.	0.011133	0.09975	T	-0.683035	0.00046	T	-0.732959	0.04194	T	0.0268026784277782	0.01516	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.801	0.77339	P	.	.	2.407050	0.30930	18.59	0.98804674367651779	0.46509	0.04231	0.09751	N	AEFDBI	0.077888	0.15703	N	-0.643886049939535	0.17638	0.9093302	-0.808736692208538	0.14284	0.7455574	0.999958410287798	0.48110	0.646311	0.45356	0	0.577304	0.33150	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	2.2	2.2	0.26966	-0.311000	0.08164	3.537000	0.38984	0.373000	0.20310	0.000000	0.06391	0.605000	0.25739	0.079000	0.17189	0.0:0.0:1.0:0.0	12.109	0.53126	218	0.91525	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	690.44	34	chr16	30532740	.	G	A	690.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.137;DP=240;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=0.081;SOR=0.713	GT:AD:DP:GQ:PL	0/1:31,29:60:99:701,0,743	6	0	1	0
chr16	30698184	30698195	AGTGGTGGTGGT	-	exonic	LOC730183	.	nonframeshift deletion	LOC730183:NM_001256932:exon1:c.114_125del:p.P39_L42del	.	434	1084	3	0	1	4	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	.	0	0	0	0	0	3.84e-05	1	26028	rs755852258	5.774e-05	5.131e-05	4.946e-05	6.66e-05	0.0010	4.58e-05	4.151e-05	0.0007	0.0006	0.0010	0	0	0.0006	0	0.0004	1.133e-05	0.0001	0.0002	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0007	0	6.532e-05	0	0.0002	0	0	4.41e-05	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1388.59	33	chr16	30698183	.	GAGTGGTGGTGGT	G	1388.59	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.643;DP=270;ExcessHet=0;FS=2.92;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=2.64;SOR=1.121	GT:AD:DP:GQ:PL	0/1:48,37:85:99:1399,0,1876	6	0	1	0
chr16	30698188	30698188	G	0	exonic	LOC730183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1043.83	33	chr16	30698188	.	G	*	1043.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.037;DP=333;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=5.7;ReadPosRankSum=0.499;SOR=0.722	GT:AD:DP:GQ:PL	0/1:48,37:85:99:1399,0,1876	6	0	1	0
chr16	31484732	31484732	G	A	exonic	SLC5A2	.	nonsynonymous SNV	SLC5A2:NM_003041:exon2:c.G186A:p.M62I	Renal glucosuria, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.210501463153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48642	D	0.109	0.49120	T	0.985	0.61118	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.205	0.62170	M	-2.42	0.88611	D	-3.41	0.67129	D	0.668	0.67650	0.695	0.93116	D	0.797	0.93125	D	10	0.9410808	0.93433	D	0.210501	0.87255	D	0.781	0.92705	0.831	0.94042	0.944071055064	0.94348	0.8369336693061792	0.83653	0.345386298951	0.36448	0.597132444382	0.52500	T	0.060725	0.77471	T	0.214527	0.75258	D	0.0703763	0.74935	D	0.977208971977234	0.71734	D	0.884012	0.60954	D	0.6389645	0.74776	0.54659826	0.73790	0.6389645	0.74777	0.54659826	0.73790	-9.367	0.70028	D	.	.	0.656	0.82688	P	.;.	.;.	4.968813	0.82213	27.7	0.99695401195536215	0.80248	0.95067	0.63317	D	AEFDGBHCI	0.933226	0.92478	D	0.800257308993656	0.86123	8.785099	0.771463573047138	0.87748	9.331013	1.0	0.98316	0.623204	0.39778	0	0.59043	0.45803	0	0.378051	0.06126	2	0.562822	0.20929	0	.	.	5.13	5.13	0.69729	6.707000	0.74478	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	16.122	0.81171	310	0.87484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	842.45	36	chr16	31484732	.	G	A	842.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.629;DP=262;ExcessHet=0;FS=5.747;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-2.028;SOR=0.509	GT:AD:DP:GQ:PL	0/1:46,36:82:99:853,0,1195	6	0	1	0
chr16	50669118	50669118	A	G	exonic	SNX20	.	nonsynonymous SNV	SNX20:NM_153337:exon4:c.T313C:p.Y105H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00300890923964	.	.	5.021e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs775853805	4.49e-06	8.904e-06	1.484e-06	7.546e-06	6.413e-05	1.62e-06	1.06e-06	2.473e-05	1.56e-05	0	0	0	0	0	0	9.788e-07	0	6.413e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.68	0.51952	T	0.26	0.04380	N	0.105	0.08925	-1.0079	0.27572	T	0.075	0.30303	T	8	0.046744525	0.03904	T	0.003009	0.06457	T	0.056	0.15993	0.142	0.04556	0.17258766438	0.16869	.	.	.	.	.	.	.	.	.	.	-0.461988	0.00955	T	-0.705088	0.05552	T	0.0242726447613716	0.01180	T	.	.	.	.	.	.	.	.	.	.	.	-1.936	0.02949	T	.	.	.	.	.	.	.	0.168040	0.05572	2.031	0.21305222156409784	0.00806	0.00181	0.01060	N	AEFBHCI	0.018182	0.00532	N	-1.44978341585961	0.02218	0.09771435	-1.5702585569571	0.01840	0.08383224	0.999813033384949	0.43459	0.615465	0.37627	0	0.633656	0.55848	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.38	-2.28	0.06438	-0.030000	0.12257	0.108000	0.14741	-2.084000	0.00402	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.435:0.0:0.3459:0.2191	2.621	0.04619	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	449.29	34	chr16	50669118	.	A	G	449.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.191;DP=440;ExcessHet=0.3476;FS=161.402;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.99;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,22:149:99:0|1:50669118_A_G:232,0,2845:50669118	5	0	2	0
chr16	53287980	53287980	A	G	exonic	CHD9	.	nonsynonymous SNV	CHD9:NM_001352156:exon26:c.A3791G:p.K1264R,CHD9:NM_001352157:exon26:c.A3791G:p.K1264R,CHD9:NM_001352158:exon26:c.A3692G:p.K1231R,CHD9:NM_001382354:exon26:c.A3692G:p.K1231R,CHD9:NM_001382355:exon26:c.A3692G:p.K1231R,CHD9:NM_001308319:exon27:c.A5213G:p.K1738R,CHD9:NM_001352127:exon27:c.A5213G:p.K1738R,CHD9:NM_001382353:exon27:c.A5213G:p.K1738R,CHD9:NM_025134:exon27:c.A5213G:p.K1738R	.	437	1075	10	0	0	10	0.00462963	.	.	.	3393251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.455	0.0467989313257	0.0057	0.00199681	0.0027	0.0010	0.0011	0	0.0005	0.0044	0.0033	0.0004	0.0029948	463	154602	rs61754093	0.0053	0.0055	0.0054	0.0052	0.0064	0.0052	0.0052	0.0063	0.0062	0.0010	0.0017	0.0048	2.521e-05	0.0006	0.0050	0.0064	0.0054	0.0005	0.0031	0.0031	0.0035	0.0026	0.0054	0.0028	0.0027	0.0049	0.0047	0.0009	0	0.0014	0.0075	0	0.0006	0	0.0054	0.0014	0.0008	0.013	0.53900	D	0.066	0.60337	T	0.012	0.18235	B	0.007	0.17743	B	0.000550	0.43413	N	0.099352	0.999934	0.51612	D	2.045	0.56016	M	-2.53	0.89430	D	-2.11	0.48020	N	0.4	0.50598	0.172	0.85430	D	0.596	0.85587	D	10	0.01096943	0.00242	T	0.046799	0.62625	D	0.455	0.75415	.	.	0.803993924541	0.80216	0.30745811959884534	0.30658	0.518460528272	0.49701	0.612384557724	0.54653	T	0.098633	0.40916	T	-0.291238	0.09512	T	-0.185147	0.56044	T	0.0384918282354041	0.03420	T	0.916108	0.72323	D	0.10613941	0.25096	0.1230636	0.29680	0.10613941	0.25096	0.1230636	0.29679	-8.649	0.65877	D	.	.	0.144	0.44188	B	.;.;.;.;.;.	.;.;.;.;.;.	3.416413	0.47413	22.5	0.99828816160221878	0.91112	0.99500	0.96782	D	AEFBI	0.698219	0.65596	D	0.170643659475079	0.49794	3.175823	0.280205423275488	0.54384	3.603623	0.998409254875958	0.36906	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.73	4.64	0.57399	6.887000	0.75425	6.929000	0.56953	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9297:0.0:0.0703:0.0	11.428	0.49266	201	0.92177	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.07143	1215.44	33	chr16	53287980	.	A	G	1215.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.14;DP=290;ExcessHet=0;FS=0.715;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.218;SOR=0.814	GT:AD:DP:GQ:PL	0/1:57,52:109:99:1226,0,1397	6	0	1	0
chr16	56474875	56474875	G	A	exonic	OGFOD1	.	nonsynonymous SNV	OGFOD1:NM_001324363:exon10:c.G1219A:p.G407S,OGFOD1:NM_001324357:exon11:c.G1330A:p.G444S,OGFOD1:NM_001324358:exon11:c.G1168A:p.G390S,OGFOD1:NM_001324359:exon11:c.G1042A:p.G348S,OGFOD1:NM_001324360:exon11:c.G1042A:p.G348S,OGFOD1:NM_001324361:exon11:c.G1168A:p.G390S,OGFOD1:NM_001324362:exon11:c.G913A:p.G305S,OGFOD1:NM_018233:exon11:c.G1333A:p.G445S	.	429	1079	14	0	0	14	0.00644567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.030616256178	0.0003	0.000998403	0.0016	9.61e-05	8.643e-05	0.0001	0	0.0004	0	0.0100	0.001313	203	154602	rs201192199	0.0007	0.0007	0.0004	0.0009	0.0083	0.0006	0.0006	0.0078	0.0076	2.988e-05	0.0001	0.0010	0	7.49e-05	0.0035	0.0001	0.0006	0.0083	0.0004	0.0004	0.0003	0.0006	0.0073	0.0003	0.0003	0.0054	0.0047	7.241e-05	0	6.551e-05	0.0009	0.0002	0	0.0034	0.0003	0.0005	0.0073	0.09	0.32769	T	0.083	0.44702	T	1.0	0.90584	D	0.983	0.75793	D	0.000000	0.84330	D	0.042575	1	0.81001	D	3.07	0.87108	M	0.59	0.54540	T	-4.16	0.76740	D	0.59	0.61172	-0.3131	0.74617	T	0.404	0.75444	T	9	0.010893464	0.00241	T	0.030616	0.52889	D	.	.	.	.	0.765059256141	0.76291	0.7638008280963696	0.76328	0.564018394391	0.52809	0.555544734001	0.46638	T	0.370981	0.73542	T	-0.0952216	0.37213	T	0.0971252	0.76718	D	0.152972972280557	0.17338	T	0.881212	0.60266	D	0.44717592	0.63863	0.24130172	0.49525	0.44717592	0.63863	0.24130172	0.49524	-11.038	0.79866	D	.	.	0.187	0.55103	B	.;.	.;.	4.979493	0.82472	27.8	0.99829313550550036	0.91112	0.97839	0.77515	D	AEFBI	0.763273	0.70042	D	0.752781194552767	0.83087	7.926074	0.722701537171452	0.84103	8.199556	0.999996665720699	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.02	6.02	0.97559	7.139000	0.76905	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.591000	0.31164	0.07:0.0:0.93:0.0	13.7	0.62081	443	0.79878	Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain;Oxoglutarate/iron-dependent oxygenase, C-terminal degradation domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.018939	0.07143	719.83	35	chr16	56474875	.	G	A	719.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.184;DP=268;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0.914;SOR=0.766	GT:AD:DP:GQ:PL	0/1:47,34:81:99:730,0,1058	6	0	1	0
chr16	67167824	67167824	C	G	exonic	HSF4	.	nonsynonymous SNV	HSF4:NM_001374674:exon9:c.C869G:p.A290G,HSF4:NM_001374675:exon9:c.C959G:p.A320G,HSF4:NM_001040667:exon11:c.C959G:p.A320G,HSF4:NM_001538:exon11:c.C869G:p.A290G	Cataract 5, multiple types, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	YES	491267	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.022	0.0084692395779	.	.	8.425e-05	0	0.0002	0	0	0.0001	0	0	3.84e-05	1	26028	rs773707270	3.261e-05	3.215e-05	2.619e-05	3.912e-05	0.0007	2.513e-05	2.252e-05	0.0002	0.0001	0	7.221e-05	0.0009	0	0	0.0007	1.179e-05	8.4e-05	0	3.284e-05	3.281e-05	3.855e-05	2.687e-05	0.0002	1.26e-05	7.98e-06	.	.	0	0	0	0.0012	0	0	0	0	0	0.0002	0.134	0.26300	T	0.322	0.32040	T	0.155	0.41275	B	0.042	0.32896	B	0.001336	0.39379	N	0.211161	0.541437	0.33280	D	.	.	.	.	.	.	-0.77	0.21429	N	0.183	0.21580	-0.8237	0.53702	T	0.150	0.47681	T	8	0.06479764	0.08647	T	0.008469	0.22407	T	0.022	0.04323	0.316	0.29258	0.550005317886	0.54656	0.226338257423765	0.22548	.	.	0.495456784964	0.38195	T	0.157101	0.49955	T	-0.265733	0.12236	T	-0.436715	0.29176	T	0.167630583047867	0.18418	T	0.767123	0.39533	T	0.09376176	0.22030	0.11313132	0.27300	0.09376176	0.22029	0.11313132	0.27300	-3.682	0.19052	T	0.18263185100397786	0.23605	0.143	0.31355	B	.;.	.;.	3.651315	0.51821	23.2	0.98846165239060169	0.47203	0.86958	0.46359	D	AEFGBI	0.521256	0.54577	D	0.108053863768287	0.46839	2.918151	0.159290792854068	0.47637	2.990898	0.992037892875454	0.32696	0.625279	0.40028	0	0.60822	0.50512	0	0.596491	0.31596	0	0.616125	0.45549	0	.	.	5.51	3.45	0.38602	2.887000	0.48284	4.107000	0.41897	0.596000	0.33519	0.996000	0.39380	0.999000	0.35428	0.999000	0.91618	0.3166:0.53:0.1534:0.0	8.312	0.31238	46	0.97728	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	725.45	39	chr16	67167824	.	C	G	725.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.848;DP=255;ExcessHet=0;FS=0.946;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-2.087;SOR=0.518	GT:AD:DP:GQ:PL	0/1:36,30:66:99:736,0,1056	6	0	1	0
chr16	67175090	67175090	C	G	exonic	NOL3	.	nonsynonymous SNV	NOL3:NM_001185057:exon4:c.C653G:p.A218G,NOL3:NM_001276311:exon4:c.C539G:p.A180G	Myoclonus, familial cortical, Autosomal dominant	7	1439	71	5	0	81	0.0273741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00239617	0.0037	0.0002	0.0008	0	0	0.0016	0.0045	0.0199	0.0031888	493	154602	rs201000974	0.0021	0.0021	0.0014	0.0027	0.0220	0.0020	0.0020	0.0212	0.0209	0.0001	0.0006	0.0117	2.519e-05	0	0.0140	0.0005	0.0027	0.0220	0.0013	0.0013	0.0010	0.0017	0.0197	0.0012	0.0011	0.0165	0.0153	2.404e-05	0	0.0016	0.0104	0	0	0.0068	0.0006	0.0024	0.0197	0.394	0.10694	T	0.417	0.14241	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	0	0.06538	N	.	.	.	-1.07	0.27876	N	0.052	0.02366	.	.	.	.	.	.	.	0.0031780005	0.00053	T	.	.	.	.	.	.	.	0.404315859256	0.40048	.	.	0.426604590348	0.43034	0.291245102882	0.09104	T	.	.	.	-0.513528	0.00479	T	-0.494168	0.22954	T	.	.	.	0.264874	0.04312	T	.	.	.	.	.	.	.	.	-3.213	0.12640	T	.	.	0.087	0.11124	B	.	.	1.441142	0.18608	13.83	0.66975076403872813	0.08217	0.10998	0.16338	N	AEFDGBHCI	0.103023	0.20652	N	.	.	.	.	.	.	0.999999942656462	0.74766	0.676563	0.55306	0	0.627608	0.54475	0	0.673471	0.61138	0	0.665054	0.64577	0	.	.	3.68	2.72	0.31179	0.395000	0.20576	0.209000	0.15940	-0.240000	0.07525	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.7805:0.2195:0.0	9.296	0.36978	45	0.97767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.005051	0.006793	0.000000	0.050000	0.008621	0.012195	0.037879	0.07143	1701.44	36	chr16	67175090	.	C	G	1701.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.64;DP=388;ExcessHet=0;FS=1.134;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.82;ReadPosRankSum=-0.167;SOR=0.79	GT:AD:DP:GQ:PL	0/1:116,77:193:99:1712,0,2695	6	0	1	0
chr16	67228398	67228398	C	G	exonic	TMEM208	.	nonsynonymous SNV	TMEM208:NM_014187:exon3:c.C146G:p.A49G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0137786039362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.437e-05	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.12632	T	0.342	0.17910	T	0.679	0.41373	P	0.136	0.33270	B	0.000340	0.45700	D	0.193031	0.994158	0.81001	D	1.7	0.43825	L	1.52	0.30669	T	-1.76	0.42191	N	0.539	0.58287	-1.0958	0.04639	T	0.060	0.25237	T	10	0.29794908	0.47354	T	0.013779	0.33440	T	0.079	0.23065	0.457	0.52265	0.0762999501168	0.06990	0.5849071720731794	0.58420	0.288640209993	0.31269	0.727495908737	0.71140	T	0.060991	0.31535	T	-0.105032	0.35590	T	-0.388647	0.34711	T	0.644348740577698	0.38221	D	0.905209	0.66592	D	0.18404564	0.39701	0.18685585	0.41883	0.18404564	0.39700	0.18685585	0.41883	-4.656	0.32867	T	.	.	0.144	0.35951	B	.;.	.;.	3.123735	0.42181	21.5	0.97918489311336776	0.36864	0.96631	0.70114	D	AEFGBHCI	0.849400	0.76622	D	0.248460247980296	0.53561	3.524604	0.366247796533668	0.59493	4.127561	0.99999999987856	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.606735	0.37207	0	0.735409	0.98432	0	.	.	5.39	5.39	0.77615	4.879000	0.62792	5.972000	0.52016	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.888	0.79052	25	0.98345	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	163.93	54	chr16	67228398	.	C	G	163.93	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.712;DP=437;ExcessHet=0.4139;FS=181.339;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=0.997;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,16:101:99:.:.:140,0,2589:.	4	0	2	1
chr16	67814372	67814372	C	T	exonic	TSNAXIP1	.	nonsynonymous SNV	TSNAXIP1:NM_001288990:exon2:c.C118T:p.R40C,TSNAXIP1:NM_001288991:exon2:c.C118T:p.R40C,TSNAXIP1:NM_001351158:exon2:c.C188T:p.S63L	.	423	1063	34	2	0	38	0.0175601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.00259585	0.0109	0.0072	0.0054	0	0	0.0075	0.0076	0.0133	0.001119	173	154602	rs548824636	0.0018	0.0017	0.0014	0.0023	0.0144	0.0018	0.0018	0.0137	0.0134	0.0002	0.0009	0.0116	5.597e-05	0	0.0135	0.0008	0.0027	0.0144	0.0014	0.0014	0.0011	0.0017	0.0130	0.0012	0.0012	0.0105	0.0095	0.0002	0	0.0007	0.0110	0	0	0.0102	0.0012	0.0024	0.0130	0.003	0.72154	D	0.012	0.79402	D	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-1.65	0.58085	N	0.128	0.12198	-1.0072	0.27789	T	0.066	0.27087	T	7	0.0036321282	0.00066	T	.	.	.	0.031	0.07369	0.243	0.17677	0.107399877778	0.10242	0.27228320694232	0.27141	.	.	.	.	.	.	.	.	-0.636742	0.00087	T	-0.675088	0.07286	T	0.00696711036585465	0.00079	T	0.756024	0.37907	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.25495	B	.;.;.;.	.;.;.;.	1.434276	0.18528	13.79	0.92367587132288642	0.21773	0.04135	0.09617	N	AEFBI	0.079038	0.15958	N	-1.20080847553611	0.04989	0.2264046	-1.27139982614014	0.04822	0.2283614	0.938086030264572	0.27327	0.632932	0.41330	0	0.588066	0.40923	0	0.601832	0.32385	0	0.567892	0.33627	0	.	.	3.99	-1.32	0.08721	-0.058000	0.11707	-0.539000	0.08593	-0.861000	0.02628	0.136000	0.23442	0.000000	0.08366	0.358000	0.25841	0.1735:0.435:0.0:0.3915	3.487	0.07186	8	0.99202	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1490.49	34	chr16	67814372	.	C	T	1490.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.182;DP=292;ExcessHet=0;FS=2.399;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.082;SOR=0.728	GT:AD:DP:GQ:PL	0/1:51,64:115:99:1501,0,1100	6	0	1	0
chr16	69749266	69749266	T	C	exonic	NOB1	.	nonsynonymous SNV	NOB1:NM_014062:exon5:c.A472G:p.M158V	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	.	0.00199681	0.0018	0.0002	0.0004	0.0001	0	0.0003	0.0011	0.0117	0.0015524	240	154602	rs199909206	0.0009	0.0009	0.0005	0.0012	0.0105	0.0008	0.0008	0.0099	0.0097	8.978e-05	0.0003	0	5.038e-05	0	0.0024	0.0002	0.0008	0.0105	0.0005	0.0005	0.0003	0.0006	0.0087	0.0004	0.0003	0.0066	0.0059	0.0001	0	0.0004	0	0	0	0.0034	0.0002	0	0.0087	0.536	0.06891	T	0.676	0.06186	T	0.0	0.02946	B	0.0	0.01387	B	0.048066	0.23286	N	0.501568	0.999549	0.21009	N	-0.29	0.03673	N	1.64	0.27822	T	-0.79	0.21860	N	0.091	0.06990	-1.0589	0.12032	T	0.021	0.08732	T	9	0.005752206	0.00128	T	.	.	.	0.063	0.18251	.	.	0.297718772494	0.29385	0.20823882157622545	0.20739	0.134140504209	0.15111	0.262072712183	0.05140	T	0.009424	0.08585	T	-0.634145	0.00090	T	-0.674287	0.07337	T	0.0126412135420898	0.00212	T	0.749425	0.37065	T	0.022405138	0.00901	0.036559027	0.03128	0.022405138	0.00900	0.036559027	0.03128	-5.429	0.41197	T	.	.	0.056	0.00487	B	.	.	-0.516803	0.01814	0.142	0.77568087588114643	0.11930	0.54251	0.29570	D	AEFDGBCI	0.161338	0.28738	N	-1.36488093593464	0.02973	0.1321195	-1.37964222457883	0.03469	0.1619106	0.999991078213553	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.89	-9.78	0.00413	-0.092000	0.11094	-6.574000	0.01362	-0.122000	0.13826	0.878000	0.30948	0.000000	0.08366	0.978000	0.57271	0.1566:0.3904:0.3163:0.1367	4.422	0.10912	96	0.96030	Putative WW-binding domain and destruction box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004532	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.030303	0.07143	1491.83	38	chr16	69749266	.	T	C	1491.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.505;DP=319;ExcessHet=0;FS=2.442;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.72;SOR=0.49	GT:AD:DP:GQ:PL	0/1:52,61:113:99:1502,0,1405	6	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	52.17	33	chr16	70941764	.	T	C	52.17	.	AC=1;AF=0.1;AN=10;BaseQRankSum=0.825;DP=348;ExcessHet=0;FS=21.456;MLEAC=1;MLEAF=0.1;MQ=49.2;MQRankSum=-5.423;QD=0.53;ReadPosRankSum=-2.429;SOR=4.277	GT:AD:DP:GQ:PL	0/1:87,12:99:61:61,0,2300	4	0	1	2
chr16	75451727	75451727	C	T	exonic	TMEM170A	.	nonsynonymous SNV	TMEM170A:NM_001304997:exon2:c.G132A:p.M44I,TMEM170A:NM_145254:exon2:c.G246A:p.M82I	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0649908456121	0.0033	0.00159744	0.0040	0.0008	0.0019	0.0001	0.0014	0.0056	0.0011	0.0044	0.0041009	634	154602	rs117792763	0.0058	0.0058	0.0059	0.0057	0.0067	0.0057	0.0057	0.0066	0.0065	0.0007	0.0020	0.0049	7.557e-05	0.0023	0.0019	0.0067	0.0055	0.0039	0.0036	0.0036	0.0040	0.0032	0.0062	0.0034	0.0033	0.0057	0.0055	0.0012	0	0.0016	0.0046	0.0002	0.0023	0	0.0062	0.0014	0.0029	0.771	0.04134	T	0.455	0.23984	T	0.152	0.31683	B	0.07	0.32546	B	0.000000	0.84330	D	0.113004	0.99928	0.81001	D	0.69	0.16971	N	-4.45	0.97538	D	0.27	0.04306	N	0.713	0.74553	-0.9980	0.30479	T	0.109	0.39344	T	9	0.012007415	0.00260	T	0.064991	0.69445	D	.	.	0.619	0.75347	0.565096191312	0.56172	0.6930831371397005	0.69248	0.167335244816	0.18878	0.74171423912	0.73225	T	0.003872	0.04495	T	0.062117	0.59878	T	0.320176	0.89098	D	0.0175781595007979	0.00492	T	0.850615	0.58386	D	0.23506612	0.46337	0.16372804	0.37966	0.23506612	0.46337	0.16372804	0.37965	-1.95	0.02998	T	.	.	0.584	0.75723	P	.;.;.;.	.;.;.;.	2.815142	0.37074	20.4	0.97274973993824909	0.33153	0.96457	0.69234	D	AEFDBI	0.653981	0.62682	D	-0.0685895011474877	0.38777	2.276318	0.16972018607329	0.48195	3.038872	0.999934708669003	0.46732	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.82	5.82	0.92740	4.555000	0.60477	5.950000	0.51632	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	17.587	0.87882	644	0.63734	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.002717	0.002924	0.000000	0.000000	0.009146	0.003788	0.07143	794.44	33	chr16	75451727	.	C	T	794.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.284;DP=255;ExcessHet=0;FS=3.049;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.06;SOR=0.595	GT:AD:DP:GQ:PL	0/1:42,36:78:99:805,0,973	6	0	1	0
chr16	77319905	77319905	T	G	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_001326358:exon16:c.A1960C:p.N654H,ADAMTS18:NM_199355:exon16:c.A2476C:p.N826H	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	1	1452	66	3	0	72	0.0241935	.	.	.	1157850	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	0.0008	0.00519169	0.0045	0.0003	0.0010	0.0001	0.0053	0.0016	0.0033	0.0236	0.003978	615	154602	rs143047414	0.0026	0.0026	0.0018	0.0034	0.0254	0.0025	0.0025	0.0245	0.0242	0.0003	0.0007	0.0083	5.038e-05	0.0043	0.0163	0.0008	0.0029	0.0254	0.0018	0.0018	0.0013	0.0024	0.0232	0.0017	0.0016	0.0197	0.0184	9.626e-05	0	0.0009	0.0069	0.0004	0.0047	0.0102	0.0010	0.0028	0.0232	0.051	0.39334	T	0.091	0.40110	T	0.603	0.39389	P	0.275	0.40079	B	0.000259	0.46924	N	0.216159	0.992794	0.41745	D	2.33	0.66821	M	0.67	0.52187	T	-2.72	0.57920	D	0.376	0.41754	-0.9297	0.44183	T	0.133	0.44504	T	10	0.004567474	0.00095	T	.	.	.	0.154	0.40340	.	.	0.584023569625	0.58075	0.5169625543263867	0.51619	.	.	0.371716141701	0.21078	T	0.093123	0.39147	T	-0.511234	0.00494	T	-0.488205	0.23578	T	0.04476698695772	0.04559	T	0.680232	0.28883	T	0.16513127	0.36765	0.12808686	0.30822	0.16513127	0.36765	0.12808686	0.30821	-4.831	0.34951	T	.	.	0.067	0.02458	B	.	.	2.067435	0.26289	17.07	0.99152019088237753	0.53848	0.88569	0.48558	D	AEFDBI	0.308398	0.41500	N	-0.0971111787511456	0.37519	2.183957	-0.094354553607333	0.35622	2.063184	0.335326949362916	0.19528	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	5.54	3.1	0.34780	1.538000	0.35700	2.242000	0.31619	-0.115000	0.14600	0.999000	0.42656	0.999000	0.35428	0.803000	0.37862	0.14:0.0:0.2906:0.5694	6.986	0.23909	771	0.49057	ADAM-TS Spacer 1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011581	0.000000	0.010870	0.020468	0.000000	0.008621	0.018293	0.022727	0.1429	1872.44	34	chr16	77319905	.	T	G	1872.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.49;DP=316;ExcessHet=0.3476;FS=2.737;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.266;SOR=0.498	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1277,0,1607	5	0	2	0
chr16	81147488	81147488	G	T	exonic	PKD1L2	.	unknown	UNKNOWN	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.298e-06	0	0	0	0	0	0	6.065e-05	6.5e-06	1	154602	rs763231653	1.368e-06	1.368e-06	0	2.751e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1226.53	34	chr16	81147488	.	G	T	1226.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.04;DP=311;ExcessHet=0;FS=5.225;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.139;SOR=1.105	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1237,0,1600	6	0	1	0
chr16	84439206	84439206	G	A	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon9:c.G574A:p.V192I,ATP2C2:NM_001286527:exon12:c.G1027A:p.V343I,ATP2C2:NM_014861:exon12:c.G1027A:p.V343I	.	.	.	.	.	.	.	.	.	.	.	2343888	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.641	0.0652580014276	0.0002	.	4.14e-05	0.0001	8.639e-05	0	0	4.495e-05	0	0	3.88e-05	6	154602	rs374715934	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	5.986e-05	2.236e-05	0	0	0	0	0.0003	4.981e-05	2.321e-05	5.258e-05	5.254e-05	6.423e-05	4.037e-05	0.0001	2.558e-05	1.83e-05	4.764e-05	3.338e-05	2.414e-05	0	0	0	0	0	0	0.0001	0	0	0.002	0.78490	D	0.005	0.74150	D	0.998	0.73220	D	0.942	0.67772	D	0.000428	0.44522	D	0.095162	0.999984	0.54805	D	2.015	0.55033	M	-2.91	0.91696	D	-0.97	0.25770	N	0.774	0.77132	0.872	0.95296	D	0.853	0.95108	D	10	0.82159686	0.81361	D	0.065258	0.69526	D	0.641	0.86333	.	.	0.716981834949	0.71449	0.6680263956578496	0.66740	.	.	0.578524708748	0.49877	T	0.228179	0.59366	T	-0.0128655	0.49863	T	-0.0195883	0.69055	D	0.453732490539551	0.30934	T	0.982102	0.93912	D	0.13799131	0.31931	0.31071004	0.57080	0.13799131	0.31931	0.31071004	0.57080	-8.056	0.61452	D	0.4758813466803184	0.55546	0.156	0.39425	B	.;.	.;.	4.220750	0.63840	24.6	0.99866993893237399	0.94457	0.98241	0.80848	D	AEFDBI	0.854810	0.77187	D	0.624090562262449	0.74701	6.177621	0.527857149574779	0.69870	5.422712	0.99999998434835	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.75	4.75	0.59954	9.355000	0.96491	11.831000	0.97525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.558000	0.30364	0.0:0.0:1.0:0.0	16.726	0.85282	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1434.53	36	chr16	84439206	.	G	A	1434.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.06;DP=290;ExcessHet=0;FS=5.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=-0.049;SOR=1.278	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1445,0,1046	6	0	1	0
chr16	88434984	88434984	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C7514T:p.P2505L	Brittle cornea syndrome 1, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	336508	not_provided|Cardiovascular_phenotype|Brittle_cornea_syndrome_1	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.493321281619	.	0.000199681	0.0007	0.0009	0	0	0	0.0004	0.0065	0.0009	9.06e-05	14	154602	rs552311966	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0010	3.165e-05	2.801e-05	0.0016	0	0	0.0012	5.932e-05	0.0003	0.0012	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.229e-05	0.0002	8.981e-05	2.405e-05	0	6.532e-05	0.0020	0	0	0	0.0002	0	0.0006	0.82	0.03184	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	-1.88	0.43906	N	0.1	0.10198	-1.0401	0.17283	T	0.054	0.22731	T	9	0.02087292	0.00489	T	0.493321	0.95035	D	0.019	0.03383	.	.	0.251116650651	0.24721	0.03297733097687064	0.03245	.	.	0.334924459457	0.15677	T	0.029956	0.21344	T	-0.561856	0.00247	T	-0.625396	0.10766	T	0.0145803076716825	0.00299	T	0.518548	0.16835	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.15115	B	.;.	.;.	0.677514	0.10460	7.178	0.52155927680659486	0.04695	0.15707	0.19042	N	AEFBI	0.069942	0.13866	N	-0.962198159261524	0.09420	0.4457678	-1.01770092372883	0.09396	0.4672437	0.20086228948605	0.18121	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.22	0.99	0.18926	0.580000	0.23505	-0.113000	0.11807	-0.234000	0.07639	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.1643:0.6572:0.0:0.1785	5.019	0.13694	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001348	0.000000	0.016949	0.004673	0.000000	0.000000	0.000000	0.000000	0.07143	1314.53	40	chr16	88434984	.	C	T	1314.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.35;DP=401;ExcessHet=0;FS=1.828;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=1.04;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,35:83:99:0|1:88434978_C_A:1325,0,1841:88434978	6	0	1	0
chr16	88611301	88611301	-	AGCGCG	exonic	ZC3H18	.	nonframeshift insertion	ZC3H18:NM_144604:exon8:c.1240_1241insAGCGCG:p.R423_D424insER,ZC3H18:NM_001294340:exon9:c.1312_1313insAGCGCG:p.R447_D448insER	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0.0002	0.0006	0	0	0.0001537	4	26028	rs754218191	0.0008	0.0007	0.0009	0.0007	0.0008	0.0007	0.0007	0.0007	0.0007	0.0004	4.85e-05	0	2.828e-05	0.0025	0.0005	0.0008	0.0015	0.0002	0.0007	0.0007	0.0007	0.0006	0.0012	0.0006	0.0005	0.0006	0.0005	0.0005	0	0	0	0	0.0024	0	0.0007	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	445.45	38	chr16	88611301	.	C	CAGCGCG	445.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.024;DP=257;ExcessHet=0;FS=10.301;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.997;SOR=2.118	GT:AD:DP:GQ:PL	0/1:26,13:39:99:456,0,989	6	0	1	0
chr16	88630572	88630572	C	T	exonic	ZC3H18	.	nonsynonymous SNV	ZC3H18:NM_144604:exon17:c.C2654T:p.P885L,ZC3H18:NM_001294340:exon18:c.C2726T:p.P909L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0221672636618	.	0.000998403	0.0005	0.0002	0.0002	0	0	2.396e-05	0	0.0027	0.000304	47	154602	rs561177935	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	2.992e-05	0.0003	0	0.0002	0	0	3.244e-05	0.0002	0.0021	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	9.231e-05	0.0019	0.0015	2.405e-05	0	0.0002	0	0.0002	0	0	5.879e-05	0	0.0031	0.042	0.42199	D	0.114	0.36765	T	0.433	0.40232	B	0.103	0.34014	B	0.000100	0.51296	N	0.180436	0.999986	0.18198	N	1.1	0.28011	L	1.46	0.32238	T	-2.33	0.62630	N	0.142	0.14196	-1.0006	0.29746	T	0.074	0.29992	T	10	0.005359262	0.00118	T	0.022167	0.45031	T	0.058	0.16647	.	.	0.043077524339	0.03247	0.11306261664582604	0.11234	0.542930541331	0.51382	0.315722376108	0.12774	T	0.042867	0.26319	T	-0.623694	0.00104	T	-0.675146	0.07283	T	0.0194159605802795	0.00646	T	0.749925	0.42528	T	0.028978502	0.02319	0.03981416	0.04160	0.028978502	0.02318	0.03981416	0.04160	-7.482	0.57484	T	.	.	0.074	0.10594	B	.;.;.	.;.;.	1.651432	0.21067	15.04	0.48156813452511282	0.03996	0.27870	0.23397	N	AEFDBI	0.069041	0.13647	N	-0.339002789410148	0.27678	1.520531	-0.418131266126353	0.24465	1.339856	0.516164640661006	0.21058	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.51	2.13	0.26445	2.049000	0.40912	0.789000	0.21551	-0.176000	0.10722	0.694000	0.28569	0.121000	0.22902	0.041000	0.14368	0.38:0.3702:0.0:0.2498	3.869	0.08533	884	0.28482	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	597.63	23	chr16	88630572	.	C	T	597.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.758;DP=188;ExcessHet=0;FS=4.813;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.723;SOR=0.233	GT:AD:DP:GQ:PL	0/1:15,27:42:99:608,0,277	6	0	1	0
chr16	88723932	88723932	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon31:c.G4274A:p.S1425N	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	417	1098	7	0	0	7	0.00317749	.	.	.	982039	Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema|Blood_group,_ER|Lymphatic_malformation_6|PIEZO1-related_disorder|not_provided	MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202|MedGen:C5703066,OMIM:620207|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	0.521898163511	.	.	0.0011	0	0.0024	0	0	0.0004	0	0.0022	0.0001552	24	154602	rs772788410	0.0004	0.0004	0.0003	0.0004	0.0032	0.0003	0.0003	0.0023	0.0022	6.332e-05	8.403e-05	0.0011	0	2.081e-05	0.0032	0.0002	0.0005	0.0026	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	7.213e-05	0	6.532e-05	0.0012	0	0	0.0034	0.0001	0.0014	0.0017	0.144	0.25255	T	0.08	0.41913	T	1.0	0.90584	D	0.997	0.86255	D	0.000082	0.51296	D	0.194121	0.999806	0.49283	D	3.1	0.87590	M	-0.93	0.75215	T	-2.21	0.49684	N	0.466	0.50237	-0.3703	0.72952	T	0.379	0.73587	T	10	0.052884102	0.05393	T	0.521898	0.95459	D	0.260	0.57221	0.216	0.13643	0.285775778912	0.28195	0.37909203879146175	0.37824	.	.	0.831357896328	0.86770	D	0.312511	0.68433	T	-0.401489	0.02264	T	-0.354725	0.38663	T	0.159493900370773	0.17834	T	0.861414	0.55526	D	0.18746126	0.40201	0.17324612	0.39637	0.18746126	0.40201	0.17324612	0.39636	-11.988	0.84793	D	0.6523361768315288	0.72467	0.710	0.73380	P	.	.	4.337266	0.66507	25.0	0.99669483997941732	0.78458	0.97253	0.73599	D	AEFBI	0.694129	0.65323	D	0.287204185475833	0.55499	3.713965	0.302764658637187	0.55701	3.733018	0.999999996637528	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	4.545000	0.60408	7.495000	0.59416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.0:1.0:0.0:0.0	17.878	0.88744	873	0.30802	Piezo domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.003663	0.000000	0.000000	0.004065	0.000000	0.000000	0.009804	0.008333	0.07143	1168.49	35	chr16	88723932	.	C	T	1168.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.153;DP=316;ExcessHet=0;FS=0.636;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=1.36;SOR=0.616	GT:AD:DP:GQ:PL	0/1:80,58:138:99:1179,0,1811	6	0	1	0
chr16	88808259	88808259	G	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon10:c.G1622T:p.R541L	Meier-Gorlin syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2099471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.153	0.0335959048691	.	0.00139776	0.0012	0.0002	0	0	0	0	0	0.0060	0.0005175	80	154602	rs558748090	0.0003	0.0003	0.0002	0.0004	0.0040	0.0002	0.0002	0.0037	0.0035	0	4.779e-05	0	0	0	0.0003	1.359e-05	0.0006	0.0040	0.0002	0.0002	0.0001	0.0004	0.0060	0.0002	0.0002	0.0043	0.0037	9.618e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0060	0.061	0.37118	T	0.214	0.26386	T	0.924	0.51285	P	0.2	0.36839	B	0.524820	0.05223	N	1.287020	1	0.08975	N	1.655	0.42436	L	0.06	0.61798	T	-2.05	0.47008	N	0.224	0.25130	-0.8829	0.49529	T	0.109	0.39462	T	10	0.0057599843	0.00128	T	0.033596	0.55094	D	0.153	0.40148	.	.	0.51520462741	0.51163	0.3452282525551535	0.34436	0.0231559569802	0.02349	0.249110400677	0.03675	T	0.053024	0.29327	T	-0.4928	0.00627	T	-0.480383	0.24407	T	0.041523668149202	0.03967	T	0.463154	0.13467	T	0.057426557	0.11427	0.07949957	0.17902	0.057426557	0.11427	0.07949957	0.17902	-6.177	0.47736	T	0.5117681776606521	0.58542	0.107	0.19998	B	.	.	1.003348	0.13822	10.37	0.96498837375526303	0.30034	0.36875	0.25634	N	AEFDBHCI	0.099818	0.20084	N	-1.11440784983917	0.06385	0.2938133	-1.291013047274	0.04551	0.2149333	0.999999983949509	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.43	-6.22	0.01881	-0.168000	0.09914	-0.435000	0.09196	-0.677000	0.04263	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5497:0.0:0.1212:0.329	6.107	0.19303	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001520	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1275.49	39	chr16	88808259	.	G	T	1275.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.37;DP=316;ExcessHet=0;FS=3.64;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-1.322;SOR=1.104	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1286,0,1127	6	0	1	0
chr17	413501	413501	G	0	exonic	C17orf97	.	.	.	.	518	917	57	3	27	90	0.0332103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1946.13	39	chr17	413501	.	G	*	1946.13	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.27;DP=337;ExcessHet=0.0921;FS=1.323;MLEAC=2;MLEAF=0.143;MQ=58.96;MQRankSum=-0.212;QD=12.72;ReadPosRankSum=1.47;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,2:29:99:0|1:413500_CG_*:1534,0,729:413500	5	0	2	0
chr17	413503	413503	C	0	exonic	C17orf97	.	.	.	.	725	444	202	125	26	478	0.337313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3971.62	37	chr17	413503	.	C	*	3971.62	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.55;DP=368;ExcessHet=0.3696;FS=0;MLEAC=2;MLEAF=0.143;MQ=58.98;MQRankSum=-0.767;QD=11.68;ReadPosRankSum=0.778;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,86:111:99:.:.:2559,806,727:.	5	0	2	0
chr17	413682	413771	AGGCCCTCAAGGGTTTCCACATTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCA	-	exonic	C17orf97	.	nonframeshift deletion	C17orf97:NM_001013672:exon2:c.839_928del:p.I287_H316del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0030	0.0003	0.0003	0.0006	0.0009	0.0011	0.0010	0.0003458	9	26028	.	0.0002	0.0003	0.0002	0.0002	0.0007	0.0002	0.0002	0.0005	0.0005	0.0001	0.0001	0.0002	2.561e-05	0.0004	0.0002	0.0001	0.0003	0.0007	7.955e-05	0.0002	7.703e-05	8.223e-05	0.0003	4.314e-05	3.224e-05	5.748e-05	3.691e-05	0.0001	0	7.838e-05	0	0	0.0001	0	3.441e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	45.9	22	chr17	413681	.	GAGGCCCTCAAGGGTTTCCACATTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCA	G	45.9	.	AC=1;AF=0.1;AN=10;DP=182;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=58.08;QD=22.95;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,2:15:99:0|1:413500_CG_*:1573,0,265:413500	4	0	1	2
chr17	413741	413741	A	0	exonic	C17orf97	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	223.01	16	chr17	413741	.	A	*	223.01	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-1.955;DP=195;ExcessHet=0;FS=12.366;MLEAC=2;MLEAF=0.167;MQ=58.49;MQRankSum=1.62;QD=7.69;ReadPosRankSum=0.057;SOR=0.027	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,13:15:99:1|1:413500_CG_*:1802,115,0:413500	5	1	0	1
chr17	3198092	3198092	G	T	exonic	OR1A2	.	nonsynonymous SNV	OR1A2:NM_012352:exon1:c.G574T:p.V192F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00113852408677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.342	0.33490	B	0.272	0.39956	B	0.020955	0.26931	N	0.264932	1	0.08975	N	1.295	0.32453	L	8.72	0.00098	T	-2.19	0.49352	N	0.124	0.11626	-1.0337	0.19268	T	0.000	0.00152	T	10	0.1303258	0.24801	T	0.001139	0.01410	T	0.056	0.15993	0.591	0.71999	0.163833314356	0.15978	0.09568866643588249	0.09500	0.392667314243	0.40446	.	.	.	0.00973	0.08837	T	-0.20087	0.20680	T	-0.526313	0.19657	T	0.904345333576202	0.55779	D	0.943906	0.78806	D	0.2840009	0.51429	0.19236211	0.42745	0.2840009	0.51429	0.19236211	0.42744	-6.104	0.47141	T	.	.	0.158	0.34949	B	.	.	1.928341	0.24491	16.42	0.9841467427535171	0.41212	0.18553	0.20307	N	AEFBI	0.130814	0.24951	N	-0.727167918531347	0.15261	0.7675497	-0.781630407167157	0.14945	0.7835785	5.59768474202171E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	3.01	0.33872	2.730000	0.47007	1.957000	0.29917	-0.138000	0.12486	0.781000	0.29485	0.001000	0.17328	0.018000	0.11154	0.7859:0.0:0.2141:0.0	5.905	0.18229	632	0.64850	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	4731.44	38	chr17	3198092	.	G	T	4731.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.32;DP=945;ExcessHet=0;FS=1.226;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=1.05;SOR=0.624	GT:AD:DP:GQ:PL	0/1:186,181:367:99:4742,0,4567	6	0	1	0
chr17	3543545	3543545	A	G	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon5:c.T395C:p.V132A,TRPV3:NM_145068:exon5:c.T395C:p.V132A	Olmsted syndrome, Autosomal dominant	1	1511	10	0	0	10	0.00329815	.	.	.	328114	Isolated_focal_non-epidermolytic_palmoplantar_keratoderma|not_provided	MONDO:MONDO:0014622,MedGen:C4225339,OMIM:616400,Orphanet:448264|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.151	.	7.7e-05	0.00539137	0.0047	0.0003	0.0003	0.0001	0	4.496e-05	0.0033	0.0340	0.0040232	622	154602	rs139870087	0.0021	0.0021	0.0012	0.0030	0.0332	0.0020	0.0020	0.0322	0.0318	2.987e-05	2.236e-05	0	7.557e-05	0	0.0007	2.608e-05	0.0023	0.0332	0.0010	0.0010	0.0004	0.0016	0.0291	0.0009	0.0008	0.0252	0.0237	0.0001	0	0	0	0.0006	0	0	1.47e-05	0.0005	0.0291	1.0	0.00964	T	0.583	0.12920	T	0.0	0.13644	B	0.002	0.17743	B	0.027061	0.25820	N	0.367561	0.807464	0.29041	N	0.715	0.18665	N	-2.17	0.87591	D	-0.08	0.08187	N	0.078	0.12913	-0.7183	0.59546	T	0.388	0.74298	T	10	0.004003018	0.00077	T	.	.	.	0.151	0.39764	.	.	0.821853393705	0.82017	0.38004091815012153	0.37919	0.203211832339	0.22737	0.501153469086	0.38988	T	0.064	0.32268	T	-0.401881	0.02250	T	-0.324983	0.42026	T	0.0103249717654957	0.00141	T	0.670533	0.29475	T	0.08936931	0.20880	0.08118613	0.18430	0.09146237	0.21431	0.060334153	0.11472	-5.718	0.43853	T	.	.	0.182	0.42820	B	.;.;.;.	.;.;.;.	1.555870	0.19936	14.51	0.40847810486541158	0.02909	0.66927	0.33250	D	AEFGBI	0.182772	0.31010	N	-0.510105010248509	0.21752	1.156696	-0.332243773054126	0.27064	1.499159	0.00466858149891102	0.10663	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.27	4.19	0.48645	1.634000	0.36736	4.681000	0.44321	0.756000	0.94297	0.454000	0.26597	0.784000	0.26805	0.600000	0.31387	0.833:0.0:0.167:0.0	7.988	0.29383	631	0.64944	Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.07143	940.83	34	chr17	3543545	.	A	G	940.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.681;DP=282;ExcessHet=0;FS=3.816;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.9;ReadPosRankSum=-0.415;SOR=0.497	GT:AD:DP:GQ:PL	0/1:52,43:95:99:951,0,1177	6	0	1	0
chr17	4016379	4016379	T	C	exonic	ZZEF1	.	nonsynonymous SNV	ZZEF1:NM_015113:exon49:c.A8089G:p.M2697V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00693069991174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.22660	T	0.223	0.25670	T	0.017	0.17573	B	0.012	0.16012	B	0.000000	0.84330	D	0.039850	0.997633	0.44054	D	0.865	0.21413	L	2.11	0.19860	T	-1.01	0.26639	N	0.634	0.64733	-1.1005	0.04032	T	0.038	0.16505	T	10	0.21878886	0.38531	T	0.006931	0.18345	T	0.019	0.03383	0.286	0.24440	0.043077524339	0.03247	0.3473451497438877	0.34648	0.159447225297	0.17994	0.485957235098	0.36879	T	0.035086	0.23581	T	-0.181475	0.23516	T	-0.498453	0.22508	T	0.433235079050064	0.30180	T	0.820618	0.47957	T	0.15458994	0.34981	0.19115117	0.42559	0.15458994	0.34981	0.19115117	0.42558	-1.421	0.01610	T	.	.	0.152	0.33527	B	.	.	3.487389	0.48728	22.7	0.98276499983127441	0.39814	0.97559	0.75543	D	AEFDBI	0.616431	0.60299	D	0.0188953010853221	0.42715	2.578913	0.231773065273696	0.51619	3.342859	0.998706030390116	0.37498	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	5.947000	0.69957	7.954000	0.75900	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0712:0.0:0.9288	11.205	0.47993	207	0.91931	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1647.49	33	chr17	4016379	.	T	C	1647.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.792;DP=310;ExcessHet=0;FS=1.403;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-0.452;SOR=0.715	GT:AD:DP:GQ:PL	0/1:56,73:129:99:1658,0,1313	6	0	1	0
chr17	4955525	4955525	-	TCA	exonic	ENO3	.	nonframeshift insertion	ENO3:NM_001193503:exon6:c.657_658insTCA:p.S220_P221insS,ENO3:NM_001374523:exon8:c.786_787insTCA:p.S263_P264insS,ENO3:NM_001374524:exon8:c.813_814insTCA:p.S272_P273insS,ENO3:NM_001976:exon8:c.786_787insTCA:p.S263_P264insS,ENO3:NM_053013:exon8:c.786_787insTCA:p.S263_P264insS	.	0	1514	8	0	0	8	0.00263505	.	.	.	346463	Glycogen_storage_disease_due_to_muscle_beta-enolase_deficiency	MONDO:MONDO:0013046,MedGen:C2752027,OMIM:612932,Orphanet:99849	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0045	9.61e-05	0.0002	0	0	1.499e-05	0.0077	0.0325	0.0021515	56	26028	rs548538086	0.0021	0.0021	0.0012	0.0030	0.0330	0.0020	0.0020	0.0320	0.0316	2.987e-05	4.472e-05	0	0	0	0.0010	2.878e-05	0.0024	0.0330	0.0011	0.0011	0.0006	0.0016	0.0324	0.0009	0.0009	0.0282	0.0266	4.809e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	3670.4	33	chr17	4955525	.	G	GTCA	3670.4	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.803;DP=382;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=19.22;ReadPosRankSum=0.976;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,95:191:99:0|1:4955525_G_GTCA:3681,0,3725:4955525	6	0	1	0
chr17	7289574	7289574	C	T	exonic	YBX2	.	nonsynonymous SNV	YBX2:NM_015982:exon7:c.G1000A:p.G334S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00782375284607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.053e-06	1.363e-06	2.755e-06	2.7e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.7e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.541	0.09725	T	0.259	0.31472	B	0.048	0.24975	B	0.685958	0.10217	N	0.867460	0.999827	0.20203	N	0.755	0.19153	N	1.89	0.23688	T	-0.24	0.10833	N	0.309	0.34874	-1.0598	0.11805	T	0.038	0.16246	T	10	0.13291901	0.25298	T	0.007824	0.20747	T	0.049	0.13647	0.212	0.13066	0.102598925029	0.09809	0.08955715465419789	0.08888	0.177617834335	0.19982	0.679652094841	0.64219	T	0.040148	0.25430	T	-0.132436	0.31102	T	-0.428011	0.30161	T	0.36594565552666	0.27640	T	0.455554	0.13039	T	0.109565765	0.25902	0.104424916	0.25079	0.109565765	0.25902	0.104424916	0.25079	-7.974	0.60892	D	.	.	0.085	0.10304	B	.	.	2.357588	0.30237	18.37	0.97400541533306906	0.33770	0.73271	0.35843	D	AEFDBI	0.208708	0.33477	N	-0.134597836478659	0.35891	2.067475	0.0292026916392025	0.41078	2.461867	0.350192096965544	0.19674	0.650006	0.45971	0	0.59043	0.45803	0	0.606735	0.37207	0	0.604944	0.38103	0	.	.	4.58	4.58	0.56077	1.378000	0.33935	4.297000	0.42929	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.8994:0.0:0.1006	9.311	0.37065	523	0.74147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	911.27	34	chr17	7289574	.	C	T	911.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.472;DP=220;ExcessHet=0;FS=2.894;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=23.98;ReadPosRankSum=0.89;SOR=1.252	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,23:38:99:0|1:7289574_C_T:921,0,545:7289574	5	0	1	1
chr17	10362359	10362359	C	T	splicing	MYH13	NM_003802:exon4:c.348+1G>A	.	.	.	0	1518	4	0	0	4	0.00131579	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00139776	0.0010	0	0	0.0021	0.0024	0.0012	0.0022	0.0005	0.0008926	138	154602	rs188631380	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0003	0.0010	0.0009	5.974e-05	4.472e-05	3.826e-05	0.0013	0.0012	0.0016	0.0002	0.0008	0.0004	0.0003	0.0003	0.0002	0.0003	0.0015	0.0002	0.0002	0.0008	0.0006	2.408e-05	0	0	0	0.0015	0.0008	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105236	0.64854	D	0.371603	0.91131	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	6.519517	0.95341	34	0.99489025940567333	0.67347	0.97496	0.75125	D	AEFGBI	.	.	.	1.05686017378272	0.97248	15.81804	0.871903258181875	0.94227	12.59986	0.999999555230876	0.74766	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.057018	0.00518	0	0.978151	0.82146	4.4	4.4	0.52402	7.788000	0.84364	7.544000	0.60141	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:1.0:0.0:0.0	17.513	0.87661	64	0.97283	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1691.44	34	chr17	10362359	.	C	T	1691.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.306;DP=351;ExcessHet=0;FS=1.241;MLEAC=1;MLEAF=0.071;MQ=57.35;MQRankSum=-1.393;QD=10.57;ReadPosRankSum=1.62;SOR=0.82	GT:AD:DP:GQ:PL	0/1:85,75:160:99:1702,0,2002	6	0	1	0
chr17	10466546	10466546	C	T	exonic	MYH4	.	nonsynonymous SNV	MYH4:NM_017533:exon3:c.G200A:p.G67E	.	.	.	.	.	.	.	.	.	.	.	3320596	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.316	0.0180223719232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.751e-06	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.016	0.60972	D	0.003	0.11197	B	0.027	0.21085	B	0.002520	0.36425	U	0.000000	0.759993	0.29549	N	2.52	0.73523	M	-2.16	0.86549	D	-3.5	0.68178	D	0.363	0.40465	0.069	0.83605	D	0.586	0.85162	D	10	0.44626597	0.58416	T	0.018022	0.39939	T	0.316	0.63799	0.645	0.78224	0.857855530976	0.85648	0.3904544229298961	0.38960	0.672494461249	0.59528	0.585017681122	0.50792	T	0.567832	0.85642	D	-0.0328589	0.47001	T	-0.284976	0.46292	T	0.979455590248108	0.72840	D	0.933007	0.74900	D	0.14710623	0.33645	0.18045847	0.40846	0.14710623	0.33645	0.18045847	0.40845	-9.004	0.67723	D	.	.	0.230	0.46261	B	.	.	3.112511	0.41986	21.5	0.99577975577774114	0.72802	0.54791	0.29703	D	AEFBI	0.115636	0.22729	N	-0.134304084830653	0.35905	2.068366	-0.0741452398808687	0.36463	2.122314	6.72251341190772E-4	0.07599	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	2.581000	0.45742	5.854000	0.50366	0.596000	0.33519	0.912000	0.31733	1.000000	0.68203	0.848000	0.40082	0.163:0.837:0.0:0.0	12.860	0.57296	139	0.94486	Myosin, N-terminal, SH3-like|Myosin, N-terminal, SH3-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3827.44	37	chr17	10466546	.	C	T	3827.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.859;DP=494;ExcessHet=0;FS=1.4;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.152;SOR=0.789	GT:AD:DP:GQ:PL	0/1:136,157:293:99:3838,0,3262	6	0	1	0
chr17	12763417	12763417	A	G	exonic	MYOCD	.	nonsynonymous SNV	MYOCD:NM_153604:exon13:c.A2590G:p.M864V,MYOCD:NM_001146312:exon14:c.A2734G:p.M912V,MYOCD:NM_001378306:exon15:c.A2497G:p.M833V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.0189251363677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.854e-07	6.84e-07	0	1.378e-06	9.006e-07	0	0	.	.	0	0	0	0	0	0	9.006e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.019	0.60337	D	0.11	0.26188	B	0.067	0.27542	B	0.000995	0.40743	N	0.322540	0.980656	0.39690	D	2.37	0.68279	M	0.71	0.51228	T	-3.08	0.63323	D	0.287	0.32481	-0.8836	0.49472	T	0.156	0.48772	T	10	0.2602691	0.43474	T	0.018925	0.41149	T	0.124	0.34239	0.434	0.48500	0.2338531098	0.23012	0.3492407188667276	0.34838	0.0766186226647	0.08601	0.382918357849	0.22670	T	0.765765	0.93691	D	-0.0822884	0.39343	T	-0.355978	0.38518	T	0.939541280269623	0.61109	D	0.729627	0.36767	T	0.57897514	0.71553	0.50497353	0.71387	0.57897514	0.71554	0.50497353	0.71388	-3.571	0.23923	T	0.18584206291402144	0.24164	0.072	0.06024	B	.;.;.	.;.;.	2.030157	0.25802	16.89	0.9553753280761188	0.27180	0.92807	0.56593	D	AEFBI	0.322787	0.42518	N	-0.040566593102719	0.40024	2.369992	0.0591931208883923	0.42518	2.573078	5.42757811138387E-4	0.07273	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.08	5.01	0.66477	3.455000	0.52757	2.328000	0.32177	0.756000	0.94297	0.996000	0.39380	0.757000	0.26594	0.423000	0.27295	0.9277:0.0:0.0723:0.0	11.184	0.47871	946	0.12043	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1804.53	35	chr17	12763417	.	A	G	1804.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.212;DP=328;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.176;SOR=0.667	GT:AD:DP:GQ:PL	0/1:73,74:147:99:1815,0,1774	6	0	1	0
chr17	17819659	17819659	G	A	exonic	SREBF1	.	nonsynonymous SNV	SREBF1:NM_001321096:exon3:c.C518T:p.P173L,SREBF1:NM_004176:exon3:c.C590T:p.P197L,SREBF1:NM_001005291:exon4:c.C680T:p.P227L	.	402	1113	7	0	0	7	0.0031348	.	.	.	703997	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.127	0.0159295662998	0.0052	0.00219649	0.0050	0.0015	0.0045	0	0.0013	0.0076	0.0098	0.0004	0.0046507	719	154602	rs114001633	0.0072	0.0071	0.0074	0.0069	0.0084	0.0070	0.0070	0.0083	0.0082	0.0024	0.0057	0.0049	0	0.0017	0.0057	0.0084	0.0076	0.0005	0.0052	0.0052	0.0054	0.0050	0.0078	0.0049	0.0048	0.0073	0.0071	0.0022	0	0.0078	0.0052	0	0.0012	0.0068	0.0078	0.0061	0	0.491	0.09128	T	0.567	0.16914	T	0.001	0.07471	B	0.002	0.06944	B	0.000007	0.62929	N	0.066076	0.99967	0.20745	N	1.1	0.28011	L	0.65	0.63568	T	-1.21	0.30762	N	0.155	0.16028	-1.0463	0.15447	T	0.112	0.40029	T	10	0.006355375	0.00144	T	0.01593	0.36930	T	0.127	0.34888	.	.	0.082315109003	0.07666	0.10340040442223171	0.10270	0.305260887764	0.32830	0.38338214159	0.22735	T	0.422868	0.77380	T	-0.473877	0.00804	T	-0.4482	0.27895	T	0.00114388923650348	0.00011	T	0.777822	0.45098	T	0.036058877	0.04362	0.02994412	0.01390	0.036058877	0.04362	0.02994412	0.01389	-4.238	0.30162	T	.	.	0.064	0.02927	B	.;.;.	.;.;.	2.195373	0.27999	17.65	0.84759611732675255	0.15481	0.04634	0.10300	N	AEFGBHCI	0.170114	0.29699	N	-0.797834808254444	0.13366	0.6579506	-0.716077191492659	0.16560	0.8766532	0.999999999978281	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.696144	0.63334	0	0.723	0.93126	0	.	.	3.76	0.403	0.15569	2.066000	0.41078	1.185000	0.24724	0.672000	0.70159	0.814000	0.29906	0.001000	0.17328	0.954000	0.50415	0.218:0.0:0.4118:0.3702	3.039	0.05761	300	0.87974	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006579	0.025773	0.006812	0.002924	0.050000	0.000000	0.003067	0.003817	0.1429	1738.65	49	chr17	17819659	.	G	A	1738.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.69;DP=263;ExcessHet=0.3476;FS=1.479;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=-0.031;SOR=0.857	GT:AD:DP:GQ:PL	0/1:31,38:69:99:885,0,703	5	0	2	0
chr17	18263905	18263905	C	T	exonic	MIEF2	.	nonsynonymous SNV	MIEF2:NM_139162:exon4:c.C506T:p.P169L,MIEF2:NM_148886:exon4:c.C539T:p.P180L	.	423	1094	5	0	0	5	0.00227998	.	.	.	4165449	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.00984906791656	.	.	1.769e-05	0	0	0	0	3.226e-05	0	0	1.94e-05	3	154602	rs753366650	3.658e-05	3.762e-05	3.435e-05	3.882e-05	0.0007	2.853e-05	2.587e-05	0.0002	0.0001	0	4.478e-05	0	0	0	0.0007	2.969e-05	4.976e-05	0.0001	4.598e-05	4.596e-05	6.422e-05	2.689e-05	8.819e-05	2.109e-05	1.527e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0.0032	8.819e-05	0	0	0.033	0.44694	D	0.0	0.92824	D	0.445	0.35971	B	0.03	0.21741	B	0.000012	0.62929	N	0.153078	0.668399	0.43707	D	.	.	.	2.26	0.17923	T	-5.75	0.87760	D	0.183	0.20793	-1.0486	0.14790	T	0.031	0.13461	T	9	0.20646653	0.36909	T	0.009849	0.25675	T	0.127	0.34888	0.664	0.80199	0.216624796971	0.21254	0.5762568141488456	0.57554	0.344181597812	0.36343	0.518399655819	0.41401	T	0.312871	0.68466	T	-0.262271	0.12636	T	-0.432982	0.29597	T	0.235976725816727	0.22233	T	.	.	.	0.2913417	0.52117	0.27110824	0.53008	0.2913417	0.52117	0.27110824	0.53007	-6.065	0.46819	T	.	.	0.135	0.31304	B	.;.	.;.	2.770617	0.36367	20.2	0.99303689805945361	0.58722	0.74160	0.36275	D	AEFGBCI	0.215938	0.34124	N	-0.239610798621019	0.31520	1.768229	-0.230616598372512	0.30445	1.714257	0.998916774170389	0.37962	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	5.32	3.31	0.37025	4.710000	0.61563	3.293000	0.37321	0.599000	0.40250	0.889000	0.31176	0.883000	0.27730	0.701000	0.34172	0.0:0.8753:0.0:0.1247	12.529	0.55450	252	0.90114	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	971.49	35	chr17	18263905	.	C	T	971.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.237;DP=288;ExcessHet=0;FS=1.61;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=1.22;SOR=0.493	GT:AD:DP:GQ:PL	0/1:58,45:103:99:982,0,1415	6	0	1	0
chr17	35767806	35767806	-	G	exonic	MMP28	.	frameshift insertion	MMP28:NM_024302:exon7:c.1113dupC:p.N372Qfs*3,MMP28:NM_032950:exon7:c.1113dupC:p.N372Qfs*3	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.983e-05	0	0	0	0	3.685e-05	0	0	.	.	.	rs765360234	2.755e-06	8.209e-06	1.369e-06	4.16e-06	0.0002	6.5e-07	4.4e-07	.	.	0	0	0	0	1.903e-05	0.0002	9.03e-07	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1442.45	33	chr17	35767806	.	T	TG	1442.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.17;DP=294;ExcessHet=0;FS=2.387;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=0.358;SOR=0.956	GT:AD:DP:GQ:PL	0/1:50,69:119:99:1453,0,1181	6	0	1	0
chr17	35844823	35844823	-	GGAGGAGATCGAGGAGGTTAT	exonic	TAF15	.	nonframeshift insertion	TAF15:NM_003487:exon15:c.1515_1516insGGAGGAGATCGAGGAGGTTAT:p.R523_S524insGGYGGDR,TAF15:NM_139215:exon15:c.1524_1525insGGAGGAGATCGAGGAGGTTAT:p.R526_S527insGGYGGDR	Chondrosarcoma, extraskeletal myxoid	0	184	38	2	2	44	0.102439	.	.	.	3215116	TAF15-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0004	0	0.0002	0.0011	0	0.00011	17	154602	rs750774088	0.0001	0.0001	9.416e-05	0.0001	0.0005	8.87e-05	8.354e-05	0.0001	8.547e-05	2.991e-05	2.246e-05	0	0.0001	0.0001	0.0005	0.0001	0.0002	0	4.859e-05	4.722e-05	5.399e-05	4.288e-05	0.0002	2.217e-05	1.596e-05	2.902e-05	1.899e-05	2.629e-05	0	0	0	0.0002	0	0	7.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1115.63	37	chr17	35844823	.	C	CGGAGGAGATCGAGGAGGTTAT	1115.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=283;ExcessHet=0.3476;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.05;ReadPosRankSum=-1.312;SOR=0.698	GT:AD:DP:GQ:PL	0/1:27,14:41:99:383,0,982	6	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	2132.02	55	chr17	37257713	.	C	T	2132.02	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.609;DP=417;ExcessHet=8.2628;FS=426.457;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=5.32;ReadPosRankSum=0.389;SOR=10.646	GT:AD:DP:GQ:PL	0/1:49,29:78:99:222,0,678	1	0	6	0
chr17	38326650	38326650	C	T	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.G6919A:p.E2307K	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1104756	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.164	0.0366991676906	.	0.000998403	0.0003	0	0	0	0	0	0.0011	0.0022	0.0002781	43	154602	rs533863066	0.0001	0.0001	9.665e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	8.993e-07	0.0002	0.0022	9.192e-05	9.186e-05	2.57e-05	0.0002	0.0029	5.523e-05	4.361e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	.	.	.	0.02	0.58613	D	.	.	.	.	.	.	0.083503	0.20749	N	0.348186	0.902442	0.36205	D	.	.	.	.	.	.	.	.	.	0.362	0.40364	-0.4465	0.70515	T	0.235	0.60185	T	10	0.0077834427	0.00177	T	0.036699	0.57155	D	.	.	0.32	0.29902	0.208000267992	0.20380	0.17292205349369355	0.17212	.	.	0.377716362476	0.21931	T	.	.	.	-0.316683	0.07173	T	-0.233837	0.51400	T	0.194680407559654	0.20117	T	0.715628	0.32820	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28464	B	.;.	.;.	3.484405	0.48678	22.7	0.99751410341837432	0.84305	0.57271	0.30333	D	AEFGBCI	0.202900	0.32945	N	0.175806408512568	0.50039	3.197881	0.0984832874510869	0.44473	2.728369	0.999999996634969	0.74766	0.679555	0.55442	0	0.547309	0.14657	0	0.600882	0.32295	2	0.613276	0.41899	0	.	.	4.83	4.83	0.61880	1.267000	0.32653	2.565000	0.33334	0.549000	0.26987	0.175000	0.24000	0.997000	0.33255	0.756000	0.36000	0.0:1.0:0.0:0.0	14.959	0.70788	121	0.95159	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.07143	3671.44	36	chr17	38326650	.	C	T	3671.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.282;DP=503;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.788;SOR=0.72	GT:AD:DP:GQ:PL	0/1:147,147:294:99:3682,0,3772	6	0	1	0
chr17	40164128	40164128	C	T	exonic	CASC3	.	nonsynonymous SNV	CASC3:NM_007359:exon7:c.C1433T:p.P478L	.	433	1066	22	1	0	24	0.0111317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0078371103663	0.0005	0.000798722	0.0009	0.0006	0.0018	0	0	0.0009	0.0046	0.0008	0.0008926	138	154602	rs140375987	0.0009	0.0009	0.0008	0.0009	0.0401	0.0009	0.0008	0.0359	0.0342	0.0013	0.0027	0.0011	2.52e-05	5.827e-05	0.0401	0.0006	0.0022	0.0009	0.0009	0.0009	0.0009	0.0010	0.0023	0.0008	0.0008	0.0017	0.0015	0.0007	0	0.0023	0.0009	0	0	0.0340	0.0007	0.0066	0.0006	0.005	0.63226	D	0.049	0.48336	D	0.985	0.61118	D	0.493	0.47443	P	0.000416	0.44736	D	0.235442	0.999998	0.58761	D	1.67	0.42885	L	.	.	.	-0.66	0.19085	N	0.578	0.59986	-1.0268	0.21494	T	0.084	0.32729	T	9	0.019713819	0.00444	T	0.007837	0.20798	T	0.087	0.25287	.	.	0.232442253697	0.22838	0.2393387749667822	0.23847	0.579947014083	0.53851	0.479171782732	0.35943	T	0.03977	0.25301	T	-0.335218	0.05727	T	-0.259532	0.48871	T	0.0274194980544052	0.01605	T	0.925507	0.72634	D	0.11321392	0.26741	0.06890204	0.14448	0.11321392	0.26741	0.06890204	0.14447	-5.211	0.39054	T	.	.	0.098	0.16143	B	.	.	4.526741	0.71028	25.6	0.92941958910010425	0.22511	0.90570	0.51856	D	AEFBI	0.303224	0.41125	N	0.252908875417437	0.53783	3.545777	0.348133233150198	0.58395	4.009777	0.18512621597521	0.17926	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.08	5.08	0.68373	2.543000	0.45411	5.912000	0.51036	0.599000	0.40250	0.991000	0.37257	0.999000	0.35428	0.976000	0.56436	0.1511:0.8489:0.0:0.0	14.083	0.64465	204	0.92044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.034240	0.040404	0.031250	0.105263	0.000000	0.025862	0.006098	0.000000	0.08333	340.27	27	chr17	40164128	.	C	T	340.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=3.92;DP=195;ExcessHet=0;FS=6.773;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.01;ReadPosRankSum=-1.424;SOR=2.303	GT:AD:DP:GQ:PL	0/1:22,12:34:99:350,0,508	5	0	1	1
chr17	40331356	40331356	C	A	exonic	RARA	.	nonsynonymous SNV	RARA:NM_000964:exon2:c.C138A:p.H46Q,RARA:NM_001145301:exon2:c.C138A:p.H46Q,RARA:NM_001145302:exon2:c.C138A:p.H46Q	Leukemia, acute promyelocytic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.122846337856	.	0.00119808	0.0004	0	0	0	0	0	0	0.0027	0.0003234	50	154602	rs562304039	0.0002	0.0002	0.0001	0.0002	0.0027	0.0002	0.0001	0.0024	0.0023	0	0	0	0	0	0	8.993e-06	0.0002	0.0027	0.0001	0.0001	7.709e-05	0.0002	0.0033	7.572e-05	6.277e-05	0.0021	0.0017	0	0	0	0	0	0	0.0034	0	0.0005	0.0033	0.294	0.23271	T	0.237	0.33442	T	0.035	0.20614	B	0.016	0.17743	B	.	.	.	.	0.932614	0.37027	D	0.895	0.22405	L	-3.04	0.92721	D	-0.81	0.22294	N	0.305	0.34444	0.341	0.88196	D	0.715	0.90217	D	9	0.008310914	0.00189	T	0.122846	0.80390	D	0.398	0.71242	0.18	0.08751	0.809686022545	0.80789	0.36065599754853556	0.35979	0.949119874168	0.72544	0.698219180107	0.66887	T	0.204373	0.56312	T	-0.187229	0.22666	T	-0.0463334	0.67272	D	0.148219322973332	0.16961	T	0.777822	0.41150	T	0.1975915	0.41629	0.16471475	0.38143	0.1975915	0.41629	0.16471475	0.38142	-2.208	0.04079	T	.	.	0.147	0.32517	B	.;.;.;.	.;.;.;.	2.145137	0.27317	17.42	0.92267327555716583	0.21651	0.70770	0.34729	D	AEFBCI	0.232342	0.35543	N	-0.0412730192627277	0.39992	2.367567	0.0771255426714132	0.43399	2.642573	0.999998367237991	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	5.29	4.31	0.50718	1.094000	0.30563	2.731000	0.34388	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9202:0.0:0.0798	13.239	0.59413	363	0.84772	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	851.63	34	chr17	40331356	.	C	A	851.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.729;DP=262;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.57;ReadPosRankSum=0.813;SOR=0.68	GT:AD:DP:GQ:PL	0/1:51,38:89:99:862,0,1200	6	0	1	0
chr17	40799788	40799788	A	G	exonic	KRT28	.	nonsynonymous SNV	KRT28:NM_181535:exon1:c.T106C:p.C36R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0356735848932	.	.	8.263e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs776550651	5.473e-06	5.472e-06	5.445e-06	5.5e-06	0.0002	2.35e-06	1.7e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0	0	1.656e-05	0	1.316e-05	1.314e-05	2.572e-05	0	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	0	0.0005	0	0.002	0.72154	D	0.329	0.18617	T	0.429	0.35556	B	0.24	0.38599	B	0.653575	0.10491	N	0.840047	1	0.08975	N	2.05	0.56469	M	-0.9	0.74896	T	-3.75	0.71157	D	0.247	0.27910	-0.7944	0.55473	T	0.244	0.61213	T	10	0.13122699	0.24974	T	0.035674	0.56501	D	0.189	0.46613	0.329	0.31357	0.163833314356	0.15978	0.47807023354269806	0.47727	0.455949910606	0.45257	0.32086712122	0.13552	T	0.085893	0.37603	T	-0.266384	0.12164	T	-0.311551	0.43493	T	0.604060173034668	0.36562	D	0.364364	0.08448	T	0.68304527	0.77134	0.6102592	0.77329	0.68304527	0.77135	0.6102592	0.77330	-3.96	0.23203	T	.	.	0.080	0.07937	B	.	.	1.209066	0.16017	12.26	0.80184593443814833	0.13084	0.17942	0.20053	N	AEFBI	0.227274	0.35110	N	-0.826800405916015	0.12627	0.6167385	-0.9262850635769	0.11475	0.5847981	7.40496842446575E-4	0.07723	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.52	-1.59	0.08003	0.034000	0.13663	1.972000	0.29992	0.756000	0.94297	0.000000	0.06391	0.006000	0.19429	0.006000	0.07323	0.2862:0.6473:0.0665:0.0	12.979	0.57953	70	0.97015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	897.49	33	chr17	40799788	.	A	G	897.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.575;DP=310;ExcessHet=0;FS=6.505;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.756;SOR=1.36	GT:AD:DP:GQ:PL	0/1:77,40:117:99:908,0,2031	6	0	1	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	485.34	62	chr17	41382308	.	A	G	485.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.409;DP=485;ExcessHet=0.3476;FS=226.68;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=1.55;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,24:125:99:0|1:41382308_A_G:313,0,3814:41382308	5	0	2	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	413.36	62	chr17	41382311	.	C	G	413.36	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.453;DP=486;ExcessHet=0.3476;FS=219.627;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.43;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,18:125:99:.:.:247,0,3890:.	6	0	1	0
chr17	41503718	41503718	G	T	exonic	KRT13	.	nonsynonymous SNV	KRT13:NM_002274:exon2:c.C503A:p.T168N,KRT13:NM_153490:exon2:c.C503A:p.T168N	White sponge nevus 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.0519026293604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	4.104e-06	4.084e-06	2.75e-06	5.038e-05	1e-06	7.3e-07	8.35e-06	3.12e-06	0	0	0	5.038e-05	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	0.16520	T	0.619	0.07972	T	0.249	0.31168	B	0.216	0.37572	B	0.158141	0.17749	N	0.458480	1	0.08975	N	0.695	0.17993	N	-2.43	0.88689	D	-0.5	0.15782	N	0.128	0.20395	-0.5781	0.65692	T	0.401	0.75230	T	10	0.12997565	0.24734	T	0.051903	0.64853	D	0.139	0.37390	0.368	0.37687	0.800766104729	0.79891	0.07118089347187692	0.07055	0.191050775791	0.21425	0.288884341717	0.08760	T	0.169576	0.64560	T	-0.171461	0.25013	T	-0.484069	0.24015	T	0.0667977333068848	0.08195	T	0.357564	0.08250	T	0.050247088	0.09048	0.049088426	0.07429	0.050247088	0.09048	0.049088426	0.07428	-4.246	0.28886	T	.	.	0.087	0.11027	B	.;.;.;.	.;.;.;.	0.773391	0.11435	8.042	0.94532959089664181	0.25032	0.09444	0.15198	N	AEFBI	0.153932	0.27887	N	-0.68314240738348	0.16503	0.841341	-0.636664838453072	0.18554	0.9916611	6.66532451691807E-4	0.07575	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.73	1.32	0.20897	-0.563000	0.06034	1.151000	0.24481	0.676000	0.76740	0.000000	0.06391	0.007000	0.19602	0.456000	0.28029	0.0752:0.129:0.3757:0.4201	4.215	0.09984	440	0.80101	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;.;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2110.44	43	chr17	41503718	.	G	T	2110.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.544;DP=603;ExcessHet=0;FS=3.264;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.611;SOR=0.502	GT:AD:DP:GQ:PL	0/1:94,98:192:99:2121,0,2258	6	0	1	0
chr17	42027715	42027715	C	T	exonic	ZNF385C	.	nonsynonymous SNV	ZNF385C:NM_001378270:exon8:c.G1175A:p.R392K	.	414	1100	6	2	0	10	0.00452489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	.	0.0017	0.00179712	0.0017	0.0005	0.0009	0	0.0015	0.0017	0.0022	0.0041	0.0016753	259	154602	rs151041175	0.0017	0.0017	0.0016	0.0018	0.0049	0.0017	0.0016	0.0046	0.0044	0.0004	0.0012	0.0003	0	0.0015	0.0028	0.0017	0.0013	0.0049	0.0015	0.0015	0.0017	0.0013	0.0046	0.0013	0.0013	0.0031	0.0026	0.0003	0	0.0029	0.0003	0	0.0008	0	0.0019	0.0024	0.0046	0.027	0.46513	D	0.043	0.49942	D	.	.	.	.	.	.	0.000001	0.62929	N	0.093378	0.99958	0.47691	D	.	.	.	2.93	0.09822	T	-2.49	0.54217	N	0.342	0.38335	-1.0839	0.06609	T	0.022	0.09513	T	10	0.010290474	0.00230	T	.	.	.	0.104	0.29647	.	.	0.0920862733494	0.08535	0.34173564279456925	0.34086	.	.	0.588570713997	0.51293	T	.	.	.	-0.425054	0.01589	T	-0.383208	0.35346	T	0.0901751338472701	0.11239	T	0.89861	0.64536	D	0.5295049	0.68802	0.63403386	0.78640	0.5295049	0.68803	0.63403386	0.78641	.	.	.	.	.	0.343	0.56138	A	.;.;.	.;.;.	3.836771	0.55490	23.6	0.98206162371127925	0.39167	0.96124	0.67642	D	AEFDBI	0.725255	0.67430	D	-0.142888475265299	0.35538	2.042532	-0.0226006809192264	0.38695	2.283541	0.999998742448566	0.74766	0.0	0.00013	3	0.514364	0.08380	0	0.584781	0.30282	0	0.613276	0.41899	0	.	.	5.14	3.16	0.35406	4.561000	0.60519	4.859000	0.45451	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8575:0.0:0.1425	11.774	0.51245	496	0.76301	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger;Zinc finger C2H2-type|Zinc finger C2H2-type|Matrin/U1-C-like, C2H2-type zinc finger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000519	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	476.63	33	chr17	42027715	.	C	T	476.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.323;DP=197;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-0.984;SOR=0.693	GT:AD:DP:GQ:PL	0/1:17,21:38:99:487,0,389	6	0	1	0
chr17	42043120	42043120	C	A	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon2:c.G257T:p.R86L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21327725	0.37814	T	.	.	.	.	.	.	.	.	.	0.3031619562062926	0.30229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.633437	0.24778	T	0.3768866	0.59090	0.53007674	0.72848	0.3768866	0.59091	0.53007674	0.72848	-4.932	0.36093	T	.	.	0.192	0.41109	B	.	.	2.507849	0.32382	19.03	0.92223733174788669	0.21598	0.87315	0.46817	D	AEFDGBI	.	.	.	.	.	.	.	.	.	0.0697102970091862	0.15499	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.092715	0.02821	0	0.410273	0.37867	3.73	2.75	0.31439	0.511000	0.22445	0.012000	0.13456	0.597000	0.34315	0.998000	0.41325	0.295000	0.24188	0.999000	0.91618	0.0:0.9039:0.0:0.0961	10.607	0.44590	486	0.77016	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	32.65	2	chr17	42043120	.	C	A	32.65	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=14;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:23:40,0,23	4	0	1	2
chr17	43013785	43013785	G	A	exonic	IFI35	.	nonsynonymous SNV	IFI35:NM_001330230:exon6:c.G572A:p.R191H,IFI35:NM_005533:exon6:c.G578A:p.R193H	.	418	1059	42	3	0	48	0.0221607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0070	0.00439297	0.0078	0.0010	0.0029	0.0002	0.0022	0.0105	0.0047	0.0106	0.0072315	1118	154602	rs146311145	0.0072	0.0072	0.0068	0.0075	0.0241	0.0070	0.0070	0.0209	0.0196	0.0009	0.0033	0.0500	0.0001	0.0031	0.0241	0.0063	0.0100	0.0119	0.0055	0.0055	0.0059	0.0051	0.0112	0.0052	0.0051	0.0088	0.0079	0.0010	0.0022	0.0033	0.0470	0	0.0017	0.0272	0.0071	0.0114	0.0112	0.474	0.11659	T	0.604	0.07842	T	0.005	0.12996	B	0.008	0.13708	B	0.804143	0.06787	N	1.087340	0.999974	0.18612	N	0.82	0.20857	L	0.85	0.47130	T	-1.65	0.42763	N	0.026	0.00770	-1.0243	0.22311	T	0.043	0.18326	T	10	0.0034869611	0.00062	T	.	.	.	0.124	0.34239	.	.	0.316198179892	0.31222	0.3796571607327325	0.37880	0.0828921084784	0.09354	0.216862440109	0.01137	T	0.006675	0.06097	T	-0.686016	0.00044	T	-0.750229	0.03477	T	0.00723688116875723	0.00083	T	0.684632	0.29288	T	0.030894008	0.02832	0.045393538	0.06098	0.030894008	0.02831	0.045393538	0.06098	-6.899	0.53292	T	.	.	0.071	0.04806	B	.;.	.;.	0.716264	0.10854	7.529	0.72552883588186612	0.10013	0.13481	0.17880	N	AEFDGBCI	0.066064	0.12918	N	-1.01362901966849	0.08320	0.3897128	-0.936659194844358	0.11234	0.5710384	0.998372640843774	0.36850	0.67177	0.52595	0	0.702456	0.74545	0	0.489635	0.07774	0	0.711	0.71501	0	.	.	5.22	-1.77	0.07551	-1.017000	0.03740	0.730000	0.21079	-0.106000	0.15538	0.000000	0.06391	0.001000	0.17328	0.241000	0.23027	0.5709:0.0:0.4291:0.0	10.510	0.44045	319	0.87030	Nmi/IFP 35 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.020141	0.005051	0.012228	0.020468	0.050000	0.051724	0.024390	0.018939	0.07143	950.45	36	chr17	43013785	.	G	A	950.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.96;DP=322;ExcessHet=0;FS=5.301;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.867;SOR=1.164	GT:AD:DP:GQ:PL	0/1:52,41:93:99:961,0,1136	6	0	1	0
chr17	50478948	50478948	C	T	exonic	RSAD1	.	nonsynonymous SNV	RSAD1:NM_018346:exon1:c.C64T:p.R22C	.	439	1081	1	1	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.0466903678352	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs758844128	3.233e-06	2.394e-05	4.755e-06	1.649e-06	3.962e-06	7.6e-07	5.1e-07	9.3e-07	6.3e-07	0	0	0	0	0	0	3.962e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.058	0.46182	T	0.0	0.02946	B	0.0	0.01387	B	0.844466	0.09009	N	0.914854	0.996467	0.23006	N	1.78	0.46185	L	1.91	0.23283	T	-0.86	0.23372	N	0.151	0.15469	-1.0137	0.25752	T	0.030	0.13067	T	10	0.080242366	0.13003	T	0.04669	0.62573	D	0.039	0.10176	0.441	0.49648	0.1749357433	0.17121	0.416535963483403	0.41569	0.395769569949	0.40707	0.700825691223	0.67263	T	0.033476	0.22931	T	-0.256208	0.13347	T	-0.605801	0.12328	T	0.561300544472224	0.34904	D	0.648035	0.25918	T	0.17721921	0.38676	0.11818205	0.28530	0.17721921	0.38676	0.11818205	0.28529	-5.392	0.40842	T	.	.	0.217	0.44643	B	.	.	3.563424	0.50150	22.9	0.99478889693727701	0.66741	0.03706	0.08988	N	ALL	0.056938	0.10566	N	-0.660175678527007	0.17165	0.8809153	-0.550089717584652	0.20803	1.122534	1.0	0.98316	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.241949	0.04745	2	.	.	5.0	1.4	0.21393	0.321000	0.19306	1.630000	0.27734	0.499000	0.22661	0.216000	0.24491	0.020000	0.20764	0.512000	0.29290	0.0:0.6016:0.0:0.3984	5.473	0.15973	896	0.25515	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	181.27	15	chr17	50478948	.	C	T	181.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.828;DP=123;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.54;ReadPosRankSum=0.083;SOR=0.551	GT:AD:DP:GQ:PL	0/1:11,8:19:99:191,0,248	5	0	1	1
chr17	50548440	50548440	A	G	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon2:c.A235G:p.N79D,SPATA20:NM_001258373:exon3:c.A103G:p.N35D,SPATA20:NM_022827:exon3:c.A283G:p.N95D	.	414	1083	25	0	0	25	0.0114103	.	.	.	2811471	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.470	0.0361846041077	0.0039	0.00359425	0.0042	0.0007	0.0029	0	0.0008	0.0059	0.0056	0.0040	0.0042432	656	154602	rs145670888	0.0049	0.0049	0.0049	0.0049	0.0184	0.0048	0.0047	0.0155	0.0145	0.0011	0.0033	0.0133	7.557e-05	0.0009	0.0184	0.0051	0.0057	0.0043	0.0040	0.0040	0.0043	0.0037	0.0052	0.0037	0.0036	0.0048	0.0046	0.0010	0.0504	0.0043	0.0161	0	0.0005	0.0272	0.0052	0.0057	0.0039	0.0	0.91255	D	0.0	0.92824	D	0.998	0.77913	D	0.988	0.78936	D	0.000000	0.84330	D	0.000000	0.999889	0.50402	D	3.015	0.86134	M	0.83	0.47815	T	-4.6	0.78976	D	0.709	0.71676	-0.3887	0.72383	T	0.253	0.62337	T	10	0.017895311	0.00385	T	0.036185	0.56830	D	0.470	0.76421	.	.	0.690399711728	0.68774	0.6965168757279541	0.69592	0.839685681929	0.67980	0.645402669907	0.59331	T	0.312235	0.68407	T	-0.303972	0.08289	T	-0.207077	0.53973	T	0.0526040994866846	0.05951	T	0.988539	0.96067	D	0.8381297	0.86475	0.7514801	0.85310	0.8381297	0.86477	0.7514801	0.85311	-12.059	0.86042	D	.	.	0.740	0.75209	P	.;.;.;.	.;.;.;.	4.294546	0.65523	24.8	0.99748116948115517	0.84002	0.93535	0.58482	D	AEFDBI	0.598197	0.59169	D	0.70968945048669	0.80268	7.256726	0.626845165808188	0.76896	6.576254	0.999999816269473	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.59	4.59	0.56297	5.788000	0.68670	8.006000	0.76170	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.9195:0.0:0.0805:0.0	10.322	0.42957	944	0.12746	.;.;Domain of unknown function DUF255;Domain of unknown function DUF255	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014602	0.010101	0.023098	0.014620	0.000000	0.034483	0.003049	0.011364	0.07143	2858.44	33	chr17	50548440	.	A	G	2858.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.043;DP=462;ExcessHet=0;FS=2.875;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-1.37;SOR=0.901	GT:AD:DP:GQ:PL	0/1:115,123:238:99:2869,0,2910	6	0	1	0
chr17	54968388	54968388	C	T	exonic	COX11	.	nonsynonymous SNV	COX11:NM_001162861:exon1:c.G259A:p.E87K,COX11:NM_001162862:exon1:c.G259A:p.E87K,COX11:NM_001321518:exon1:c.G259A:p.E87K,COX11:NM_004375:exon1:c.G259A:p.E87K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0543995333637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.473	0.08408	T	0.426	0.17910	T	0.006	0.19556	B	0.003	0.19966	B	0.059023	0.22355	N	0.534882	0.852843	0.35252	D	0.805	0.20218	L	0.95	0.44065	T	-0.62	0.18248	N	0.223	0.26717	-1.0153	0.25240	T	0.083	0.32642	T	10	0.13325772	0.25362	T	0.054	0.65844	D	0.090	0.26093	0.364	0.37036	0.432266382184	0.42845	0.5453458268931943	0.54460	0.748988941074	0.63666	0.5486317873	0.45665	T	0.205984	0.56519	T	-0.205222	0.20057	T	-0.532563	0.19032	T	0.454651534557343	0.30968	T	0.816518	0.49766	T	0.32208198	0.54815	0.19512352	0.43173	0.32208198	0.54815	0.19512352	0.43172	-5.444	0.41340	T	.	.	0.102	0.30184	B	.;.;.	.;.;.	2.532395	0.32744	19.13	0.92282619947588573	0.21669	0.82390	0.41625	D	ALL	0.337043	0.43497	N	-0.549964897527483	0.20484	1.080203	-0.418906649724785	0.24443	1.338467	0.999999999999942	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.02	4.06	0.46572	3.192000	0.50690	2.559000	0.33304	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.060000	0.15972	0.0:0.9187:0.0:0.0813	12.529	0.55448	856	0.34373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	69.63	42	chr17	54968388	.	C	T	69.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.955;DP=274;ExcessHet=0;FS=28.587;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=-0.535;SOR=4.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,11:60:80:0|1:54968386_C_T:80,0,1190:54968386	6	0	1	0
chr17	57873709	57873709	G	T	exonic	CUEDC1	.	nonsynonymous SNV	CUEDC1:NM_001271875:exon4:c.C473A:p.A158E,CUEDC1:NM_001292025:exon4:c.C473A:p.A158E	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00796358971848	.	.	5.995e-05	0	8.658e-05	0	0	9.176e-05	0	0	4.53e-05	7	154602	rs199516462	6.701e-05	6.772e-05	7.212e-05	6.183e-05	0.0005	5.607e-05	5.211e-05	0.0001	7.679e-05	0	9.839e-05	0	0	0	0.0005	7.844e-05	5.072e-05	0	6.572e-05	6.567e-05	7.709e-05	5.381e-05	0.0001	3.517e-05	2.617e-05	5.843e-05	4.24e-05	4.826e-05	0	0	0	0	0	0	0.0001	0	0	0.942	0.02186	T	0.958	0.46632	T	0.259	0.31472	B	0.061	0.26820	B	0.000082	0.51296	D	0.169570	0.991877	0.23969	N	0.895	0.22405	L	1.89	0.30937	T	-0.85	0.23156	N	0.133	0.18512	-0.9803	0.34932	T	0.029	0.12673	T	10	0.028013557	0.00938	T	0.007964	0.21110	T	0.067	0.19503	0.155	0.05858	0.128392430309	0.12331	0.48511435177826606	0.48431	0.522226386819	0.49958	0.455611199141	0.32711	T	0.007866	0.07247	T	-0.445548	0.01200	T	-0.629466	0.10456	T	0.0364829421221	0.03065	T	0.184082	0.02912	T	0.061074145	0.12605	0.10440012	0.25074	0.061074145	0.12605	0.10440012	0.25073	-4.002	0.23834	T	.	.	0.125	0.30555	B	.;.;.;.;.	.;.;.;.;.	0.256774	0.06355	2.819	0.22481538846736329	0.00906	0.25210	0.22630	N	AEFGBCI	0.253665	0.37312	N	-1.47625938255765	0.02018	0.08869677	-1.43364729132227	0.02921	0.1353139	0.999999426058957	0.74766	0.653281	0.48532	0	0.610034	0.51514	0	0.675528	0.61593	0	0.721622	0.92947	0	.	.	5.62	2.18	0.26813	2.707000	0.46812	4.105000	0.41886	-2.201000	0.00355	0.158000	0.23769	0.182000	0.23429	0.000000	0.00833	0.7905:0.0:0.2095:0.0	8.838	0.34282	121	0.95159	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	621.63	39	chr17	57873709	.	G	T	621.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.797;DP=234;ExcessHet=0;FS=0.968;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=0.195;SOR=0.551	GT:AD:DP:GQ:PL	0/1:33,28:61:99:632,0,816	6	0	1	0
chr17	58203086	58203086	A	T	exonic	EPX	.	nonsynonymous SNV	EPX:NM_000502:exon11:c.A1714T:p.N572Y	.	1	1414	102	5	0	112	0.0380952	.	.	.	704251	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.714	.	0.0052	0.0131789	0.0097	0.0010	0.0026	0.0404	0.0005	0.0057	0.0100	0.0242	0.0090426	1398	154602	rs2302311	0.0072	0.0072	0.0066	0.0079	0.0356	0.0071	0.0071	0.0341	0.0335	0.0011	0.0028	0.0041	0.0356	0.0005	0.0262	0.0055	0.0089	0.0238	0.0060	0.0060	0.0057	0.0064	0.0363	0.0057	0.0056	0.0320	0.0304	0.0013	0.0175	0.0037	0.0063	0.0363	0.0005	0.0136	0.0064	0.0052	0.0255	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000087	0.51296	D	0.229393	0.999894	0.50595	D	3.395	0.91620	M	-0.89	0.74793	T	-7.26	0.94377	D	0.855	0.85132	0.222	0.86286	D	0.428	0.77055	T	10	0.011209935	0.00246	T	.	.	.	0.714	0.89831	.	.	0.907641921367	0.90672	0.9397424012326949	0.93955	0.60966715383	0.55685	0.618428587914	0.55507	T	0.73717	0.92690	D	0.0215653	0.54591	T	0.293971	0.87906	D	0.0441071641916809	0.04439	T	0.918408	0.70674	D	0.93080324	0.94318	0.9297195	0.97075	0.91762865	0.93020	0.9297195	0.97076	-10.78	0.78437	D	0.6057418395158497	0.67300	0.721	0.73813	P	.	.	4.624316	0.73463	26.0	0.9931117169918775	0.59017	0.98284	0.81251	D	AEFDHI	0.846482	0.76336	D	0.902057263412658	0.91858	11.10306	0.8354303646208	0.92136	11.25628	0.995667577349472	0.34254	0.533608	0.22052	0	0.593476	0.48661	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	5.83	0.93059	5.936000	0.69869	9.239000	0.79409	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	14.155	0.64945	569	0.70546	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022659	0.010101	0.013587	0.020468	0.000000	0.025862	0.036585	0.037879	0.2143	1365.72	34	chr17	58203086	.	A	T	1365.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.24;DP=244;ExcessHet=1.1394;FS=3.788;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.13;ReadPosRankSum=-0.122;SOR=1.164	GT:AD:DP:GQ:PL	0/1:31,35:66:99:918,0,771	4	0	3	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	104.44	22	chr17	61968034	.	C	G	104.44	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-0.463;DP=167;ExcessHet=1.7609;FS=163.355;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.325;SOR=7.568	GT:AD:DP:GQ:PL	0/1:25,21:46:81:81,0,181	2	0	3	2
chr17	64001220	64001220	C	T	exonic	PRR29	.	nonsynonymous SNV	PRR29:NM_001164257:exon4:c.C380T:p.P127L,PRR29:NM_001191029:exon4:c.C380T:p.P127L,PRR29:NM_001191030:exon4:c.C359T:p.P120L	.	381	1140	1	0	0	1	0.000438404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0777507729053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1397558898	1.444e-06	1.368e-06	2.85e-06	0	1.854e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.854e-06	0	0	6.572e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.098	0.92824	T	0.986	0.61523	D	0.683	0.53559	P	.	.	.	.	0.760379	0.81001	D	2.25	0.63811	M	0.67	0.54540	T	-6.24	0.90530	D	0.224	0.28849	-0.7445	0.58221	T	0.253	0.62292	T	9	0.34950912	0.51843	T	0.077751	0.72844	D	0.237	0.54074	0.44	0.49484	0.254244900254	0.25046	0.23072997802445863	0.22987	.	.	.	.	.	0.109692	0.42378	T	-0.0344726	0.46763	T	-0.287294	0.46053	T	0.981649219989777	0.74030	D	0.571043	0.20346	T	0.116358966	0.27445	0.1365214	0.32657	0.116358966	0.27445	0.1365214	0.32657	-7.263	0.55932	T	.	.	0.098	0.29887	B	.;.;.;.;.	.;.;.;.;.	2.608450	0.33872	19.47	0.98803092987117147	0.46493	0.34685	0.25125	N	AEFDBCI	0.128994	0.24699	N	-0.16642926810097	0.34538	1.973	-0.272333453483187	0.29013	1.622169	0.999230887101909	0.38840	0.722319	0.85440	0	0.550933	0.16991	0	0.577349	0.28860	0	0.735409	0.98432	0	.	.	4.43	3.46	0.38718	1.099000	0.30625	0.397000	0.17956	-0.178000	0.10482	0.496000	0.26925	0.005000	0.19230	0.006000	0.07323	0.0:0.8135:0.1865:0.0	10.989	0.46751	775	0.48401	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1290.49	37	chr17	64001220	.	C	T	1290.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.489;DP=258;ExcessHet=0;FS=0.895;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.76;ReadPosRankSum=-0.614;SOR=0.614	GT:AD:DP:GQ:PL	0/1:28,49:77:99:1301,0,661	6	0	1	0
chr17	67913177	67913177	A	G	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon11:c.A5293G:p.I1765V,BPTF:NM_004459:exon13:c.A5671G:p.I1891V	.	436	1084	2	0	0	2	0.000921659	.	.	.	3302051	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0246064156982	7.8e-05	.	1.747e-05	0	0	0	0	3.115e-05	0	0	1.29e-05	2	154602	rs374472902	1.243e-05	1.231e-05	1.099e-05	1.389e-05	0.0002	7.77e-06	6.41e-06	8.14e-06	6.45e-06	0	0	0	0	0	0.0002	1.355e-05	1.675e-05	1.194e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.132	0.26519	T	0.166	0.35205	T	0.936	0.52359	P	0.901	0.63994	P	.	.	.	.	0.999739	0.51612	D	1.245	0.31408	L	-2.2	0.86888	D	-0.5	0.15782	N	0.435	0.49602	-0.6001	0.64813	T	0.250	0.61935	T	9	0.35677618	0.52408	T	0.024606	0.47597	T	0.178	0.44724	.	.	0.443461608722	0.43965	0.47854432894616633	0.47774	0.96923454907	0.73300	0.864138364792	0.91720	D	0.124625	0.44978	T	-0.000902949	0.51531	T	-0.129015	0.61055	T	0.706970512866974	0.41052	D	0.894511	0.63379	D	0.078883186	0.17991	0.12232722	0.29508	0.078883186	0.17991	0.12232722	0.29507	-7.951	0.60735	D	.	.	0.468	0.63090	A	.;.;.;.;.;.	.;.;.;.;.;.	4.106203	0.61261	24.3	0.99451063669236084	0.65274	0.98458	0.82987	D	AEFBI	0.719974	0.67069	D	0.488971525147334	0.66444	4.950973	0.56956824046122	0.72768	5.862327	0.999951001469059	0.48110	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	6.121000	0.71321	11.238000	0.90335	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.395	0.83423	838	0.37812	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	178.27	26	chr17	67913177	.	A	G	178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.132;DP=150;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.169;SOR=1.085	GT:AD:DP:GQ:PL	0/1:12,7:19:99:188,0,355	5	0	1	1
chr17	69088219	69088219	A	C	exonic	ABCA6	.	nonsynonymous SNV	ABCA6:NM_080284:exon28:c.T3646G:p.C1216G	.	454	1045	18	5	0	28	0.01322	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.555	0.0492893968447	0.0005	0.000199681	0.0005	0	8.864e-05	0	0	0.0006	0.0023	0.0010	0.000401	62	154602	rs201339605	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0016	0.0013	2.992e-05	0.0006	7.662e-05	0	1.877e-05	0.0026	0.0003	0.0006	0.0015	0.0003	0.0003	0.0004	0.0002	0.0006	0.0002	0.0002	0.0004	0.0004	0	0	0.0001	0	0	0	0.0034	0.0006	0.0005	0.0004	0.055	0.38407	T	0.069	0.43913	T	0.967	0.56408	D	0.756	0.56253	P	0.007964	0.31093	N	0.146929	0.806409	0.34580	D	3.2	0.89116	M	-2.09	0.86077	D	-10.79	0.99198	D	0.607	0.62442	0.577	0.91600	D	0.736	0.90983	D	10	0.39042228	0.54851	T	0.049289	0.63745	D	0.555	0.81659	.	.	0.944523883228	0.94394	0.18814485795219263	0.18732	0.203604991525	0.22774	0.405933737755	0.25894	T	0.293799	0.66649	T	-0.15892	0.26926	T	-0.0466053	0.67254	D	0.216425599304568	0.21284	T	0.648535	0.25952	T	0.6130245	0.73390	0.6582248	0.79982	0.6130245	0.73391	0.6582248	0.79983	-7.453	0.57279	T	.	.	0.134	0.29172	B	.	.	3.895185	0.56705	23.8	0.97975398609407505	0.37283	0.95832	0.66344	D	AEFBI	0.846047	0.76294	D	0.506882642008772	0.67496	5.089388	0.441852167366404	0.64196	4.669193	0.936456131649171	0.27255	0.706298	0.61202	0	0.708844	0.79440	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.68	4.68	0.58319	5.136000	0.64623	5.233000	0.48037	0.756000	0.94297	0.506000	0.27002	0.998000	0.33993	0.998000	0.85391	1.0:0.0:0.0:0.0	13.379	0.60203	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.005051	0.002717	0.000000	0.000000	0.008621	0.000000	0.003788	0.1429	2857.25	35	chr17	69088219	.	A	C	2857.25	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.413;DP=416;ExcessHet=0.3476;FS=2.028;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=0.074;SOR=0.571	GT:AD:DP:GQ:PL	0/1:67,57:124:99:1224,0,1578	5	0	2	0
chr17	74933465	74933465	G	A	exonic	OTOP2	.	nonsynonymous SNV	OTOP2:NM_178160:exon7:c.G1609A:p.V537I	.	426	1081	14	1	0	16	0.00734619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	.	0.0079	0.00279553	0.0064	0.0018	0.0046	0.0001	0.0009	0.0090	0.0066	0.0055	0.0066946	1035	154602	rs34788249	0.0096	0.0096	0.0097	0.0094	0.0127	0.0094	0.0094	0.0108	0.0107	0.0015	0.0055	0.0150	2.519e-05	0.0008	0.0127	0.0110	0.0087	0.0051	0.0059	0.0059	0.0063	0.0055	0.0095	0.0056	0.0055	0.0089	0.0086	0.0019	0.0011	0.0052	0.0138	0	0.0006	0.0102	0.0095	0.0061	0.0052	0.046	0.40573	D	0.066	0.44501	T	0.999	0.77913	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.999888	0.50402	D	2.16	0.60381	M	1.95	0.22474	T	-0.71	0.20145	N	0.413	0.45331	-1.1242	0.02082	T	0.075	0.30303	T	10	0.010299116	0.00230	T	.	.	.	0.179	0.44899	.	.	0.19670166235	0.19296	0.6250652161764596	0.62439	0.413355067724	0.42048	0.649467468262	0.59911	T	0.042562	0.26223	T	-0.452392	0.01093	T	-0.412219	0.31968	T	0.0296275787321491	0.01932	T	0.861414	0.55526	D	0.16125123	0.36122	0.12833695	0.30877	0.16125123	0.36121	0.12833695	0.30876	-6.29	0.48642	T	.	.	0.131	0.28145	B	.;.	.;.	5.042730	0.83940	28.2	0.99890500723082865	0.96436	0.97594	0.75777	D	AEFDBI	0.758346	0.69702	D	0.670588931281349	0.77705	6.726583	0.657802090988131	0.79193	7.030946	0.972778937095971	0.29399	0.603402	0.35316	0	0.563428	0.19063	0	0.548873	0.18574	0	0.63947	0.58350	0	.	.	4.96	4.96	0.65153	8.097000	0.89373	11.756000	0.95519	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0825:0.0:0.9175:0.0	11.698	0.50818	923	0.18507	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	821.46	34	chr17	74933465	.	G	A	821.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.874;DP=267;ExcessHet=0;FS=0.778;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=0.735;SOR=0.8	GT:AD:DP:GQ:PL	0/1:51,41:92:99:832,0,1129	6	0	1	0
chr17	75261947	75261947	C	T	exonic	MRPS7	.	nonsynonymous SNV	MRPS7:NM_015971:exon1:c.C47T:p.A16V	.	420	1070	30	2	0	34	0.0156394	.	.	.	375699	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00440502357384	0.0048	0.00199681	0.0041	0.0010	0.0020	0	0.0018	0.0064	0.0047	0.0015	0.004075	630	154602	rs148590649	0.0064	0.0064	0.0065	0.0063	0.0087	0.0063	0.0062	0.0072	0.0072	0.0010	0.0029	0.0104	0	0.0011	0.0087	0.0074	0.0073	0.0018	0.0042	0.0041	0.0046	0.0037	0.0069	0.0039	0.0038	0.0064	0.0062	0.0011	0.0011	0.0031	0.0098	0	0.0017	0.0136	0.0069	0.0038	0.0015	0.093	0.31532	T	0.109	0.37449	T	0.001	0.07471	B	0.001	0.04355	B	0.543857	0.11507	N	0.790916	0.999996	0.19486	N	1.25	0.31749	L	0.88	0.46028	T	-1.08	0.28084	N	0.074	0.04790	-1.0313	0.20034	T	0.039	0.16849	T	10	0.004424423	0.00090	T	0.004405	0.10749	T	0.012	0.01476	.	.	0.39162414616	0.38777	0.20479041683626842	0.20396	0.106932719672	0.12074	0.411379814148	0.26648	T	0.083355	0.37035	T	-0.674956	0.00051	T	-0.735623	0.04077	T	0.00287881512666747	0.00030	T	0.572743	0.20478	T	0.04553133	0.07468	0.06726032	0.13890	0.042661298	0.06510	0.081164576	0.18424	-3.768	0.20327	T	.	.	0.106	0.19478	B	.;.	.;.	0.557856	0.09265	6.046	0.97827559812911991	0.36239	0.01822	0.05664	N	ALL	0.490382	0.52788	N	-1.23831444075301	0.04456	0.2011343	-1.30448623569655	0.04372	0.2060572	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.66	-4.2	0.03562	-2.554000	0.01001	-1.661000	0.04965	-0.176000	0.10722	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2196:0.3363:0.1083:0.3358	1.128	0.01632	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009119	0.000000	0.006793	0.014706	0.000000	0.000000	0.009259	0.018939	0.07143	530.83	30	chr17	75261947	.	C	T	530.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.66;DP=199;ExcessHet=0;FS=1.227;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.403;SOR=1.075	GT:AD:DP:GQ:PL	0/1:20,22:42:99:541,0,395	6	0	1	0
chr17	76477247	76477247	C	T	exonic	RHBDF2	.	nonsynonymous SNV	RHBDF2:NM_001005498:exon8:c.G853A:p.A285T,RHBDF2:NM_001376228:exon8:c.G853A:p.A285T,RHBDF2:NM_001376229:exon8:c.G853A:p.A285T,RHBDF2:NM_001376230:exon8:c.G853A:p.A285T,RHBDF2:NM_024599:exon8:c.G940A:p.A314T	Tylosis with esophageal cancer, Autosomal dominant	0	1512	9	1	0	11	0.00362438	.	.	.	878606	Palmoplantar_keratoderma-esophageal_carcinoma_syndrome|not_provided	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500,Orphanet:2198|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.193	0.0580139184212	0.0007	0.000199681	0.0008	0.0002	0.0008	0	0.0015	0.0010	0	0.0011	0.0007633	118	154602	rs140433374	0.0009	0.0009	0.0008	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	0.0001	0.0008	0	0	0.0011	0.0009	0.0009	0.0009	0.0008	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0006	0.0005	7.222e-05	0	0.0008	0	0	0.0010	0	0.0007	0.0005	0.0002	0.065	0.36310	T	0.284	0.21411	T	0.891	0.49025	P	0.439	0.51231	B	0.000000	0.84330	D	0.000000	0.999886	0.50402	D	2.31	0.66127	M	-0.41	0.69413	T	-0.43	0.14390	N	0.622	0.72656	-0.3830	0.72558	T	0.430	0.77232	T	10	0.10933587	0.20392	T	0.058014	0.67169	D	0.193	0.47281	.	.	0.797291143822	0.79540	0.6017310933956239	0.60104	1.12451302267	0.78409	0.652512192726	0.60342	T	0.028348	0.20554	T	-0.165145	0.25971	T	-0.0663442	0.65887	T	0.0622759461402893	0.07522	T	0.835117	0.51077	T	0.19177422	0.40819	0.22025919	0.46795	0.20578931	0.42732	0.22975503	0.48056	-3.837	0.22273	T	.	.	0.337	0.55713	B	.;.	.;.	4.786409	0.77637	26.7	0.99890741167737884	0.96513	0.97895	0.77939	D	AEFBI	0.762692	0.70002	D	0.537794676431673	0.69340	5.343313	0.584900715013682	0.73857	6.039547	0.999995910987321	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	5.54	5.54	0.82907	5.607000	0.67330	.	.	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.482	0.95005	945	0.12563	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002523	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.07143	597.53	34	chr17	76477247	.	C	T	597.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.964;DP=259;ExcessHet=0;FS=0.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=-1.887;SOR=0.652	GT:AD:DP:GQ:PL	0/1:49,31:80:99:608,0,1260	6	0	1	0
chr17	79735355	79735355	C	A	exonic	ENPP7	.	nonsynonymous SNV	ENPP7:NM_178543:exon3:c.C712A:p.R238S	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0135050875108	0.0015	0.000399361	0.0014	0.0003	0	0	0.0030	0.0019	0	0.0015	0.0014683	227	154602	rs144007702	0.0021	0.0021	0.0021	0.0020	0.0024	0.0020	0.0020	0.0023	0.0023	0.0004	6.708e-05	3.826e-05	0	0.0022	0.0007	0.0024	0.0013	0.0017	0.0011	0.0011	0.0012	0.0010	0.0019	0.0010	0.0009	0.0015	0.0015	0.0003	0	0.0003	0	0	0.0017	0.0034	0.0018	0	0.0019	0.837	0.02832	T	0.756	0.04703	T	.	.	.	.	.	.	0.981468	0.08091	N	0.992267	1	0.08975	N	.	.	.	-0.81	0.73949	T	0.55	0.02721	N	0.121	0.11197	-0.9747	0.36191	T	0.108	0.39221	T	10	0.01062566	0.00236	T	0.013505	0.32951	T	0.137	0.36984	.	.	0.240491677333	0.23641	0.5131442733717797	0.51236	0.143592484051	0.16211	0.213940173388	0.00990	T	.	.	.	-0.479808	0.00741	T	-0.465978	0.25950	T	0.00446246836952744	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13456	B	.	.	-0.413813	0.02162	0.210	0.23841592245852766	0.01026	0.01785	0.05587	N	AEFDGBI	0.256329	0.37528	N	-1.78484195140975	0.00583	0.0251314	-1.78828262592954	0.00797	0.03558667	0.974876230065872	0.29582	0.57788	0.32782	0	0.593476	0.48661	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.39	-6.25	0.01863	1.515000	0.35452	-0.178000	0.11160	-1.290000	0.01256	0.004000	0.16614	0.000000	0.08366	0.009000	0.08673	0.3662:0.4062:0.1283:0.0994	3.812	0.08316	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	2663.44	34	chr17	79735355	.	C	A	2663.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.14;DP=424;ExcessHet=0;FS=2.252;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.687;SOR=0.536	GT:AD:DP:GQ:PL	0/1:123,106:229:99:2674,0,3067	6	0	1	0
chr17	80222676	80222676	A	C	exonic	SLC26A11	.	nonsynonymous SNV	SLC26A11:NM_001166348:exon3:c.A256C:p.M86L,SLC26A11:NM_001166349:exon3:c.A256C:p.M86L,SLC26A11:NM_001166347:exon4:c.A256C:p.M86L,SLC26A11:NM_173626:exon4:c.A256C:p.M86L	.	424	1086	12	0	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	.	0.0012	0.0081869	0.0052	9.61e-05	0.0004	0.0162	0.0035	0.0022	0.0066	0.0186	0.0046507	719	154602	rs141472706	0.0028	0.0028	0.0023	0.0034	0.0201	0.0028	0.0027	0.0189	0.0184	0.0008	0.0009	0.0179	0.0201	0.0032	0.0068	0.0006	0.0041	0.0188	0.0025	0.0025	0.0021	0.0029	0.0197	0.0023	0.0022	0.0166	0.0155	0.0003	0	0.0006	0.0153	0.0197	0.0043	0.0034	0.0010	0.0028	0.0168	0.106	0.29688	T	0.296	0.35582	T	0.021	0.18474	B	0.025	0.20508	B	0.001116	0.40219	N	0.310553	0.926442	0.36834	D	0.16	0.08945	N	-2.6	0.89888	D	-2.06	0.47175	N	0.598	0.61849	-0.7417	0.58365	T	0.306	0.67639	T	10	0.012810349	0.00375	T	.	.	.	0.294	0.61388	0.467	0.53891	0.50466331119	0.50103	0.6310794538286547	0.63041	0.108274543893	0.12206	0.48755222559	0.37100	T	0.39481	0.86879	T	-0.297286	0.08918	T	-0.184212	0.56131	T	0.00872753039014649	0.00107	T	0.926807	0.74412	D	0.2601104	0.49066	0.2477093	0.50306	0.2601104	0.49066	0.2477093	0.50305	-7.554	0.57989	D	.	.	0.156	0.38409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.802983	0.22914	15.81	0.6047288325853053	0.06472	0.96883	0.71458	D	AEFDGBI	0.518418	0.54413	D	-0.933929777757009	0.10055	0.4787471	-0.800900294125512	0.14474	0.7564247	0.0858371849169665	0.15993	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.37	0.919	0.18518	2.379000	0.43973	2.898000	0.35432	-0.126000	0.13398	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.5771:0.0:0.4229:0.0	8.384	0.31651	835	0.38313	SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;.;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site;SLC26A/SulP transporter domain|Sulphate anion transporter, conserved site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.007576	0.1429	2539.29	35	chr17	80222676	.	A	C	2539.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.5;DP=361;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-0.039;SOR=0.655	GT:AD:DP:GQ:PL	0/1:49,67:116:99:1602,0,1119	5	0	2	0
chr17	81445080	81445080	A	G	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon9:c.A2737G:p.M913V,BAHCC1:NM_001377448:exon9:c.A2737G:p.M913V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0146024446435	.	0.000798722	0.0010	0	0.0002	0	0	5.937e-05	0.0028	0.0054	0.0004657	72	154602	rs556970410	0.0004	0.0004	0.0002	0.0007	0.0038	0.0004	0.0004	0.0034	0.0033	0	0	0	0	0	0	1.442e-05	0.0004	0.0038	0.0001	0.0001	3.858e-05	0.0002	0.0037	7.577e-05	6.282e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.071	0.35165	T	0.412	0.14544	T	0.001	0.12183	B	0.002	0.10090	B	0.016334	0.28006	N	0.302966	0.903373	0.36226	D	1.355	0.33814	L	2.65	0.12676	T	-1.44	0.35399	N	0.279	0.31590	-1.0125	0.26133	T	0.019	0.07893	T	10	0.0066559613	0.00151	T	0.014602	0.34823	T	0.065	0.18881	0.109	0.01988	0.0138822411134	0.00435	0.2508463608925977	0.24998	0.0839137319646	0.09463	0.531470239162	0.43242	T	0.186853	0.54028	T	-0.525618	0.00408	T	-0.527935	0.19493	T	0.0315049216393469	0.02226	T	0.718628	0.33490	T	0.12456208	0.29222	0.19238946	0.42750	0.12456208	0.29222	0.19238946	0.42749	-7.568	0.58087	D	.	.	0.059	0.02733	B	.;.	.;.	1.523255	0.19552	14.32	0.95501873135087079	0.27094	0.66900	0.33240	D	AEFDBHCI	0.207289	0.33348	N	-0.553620124367176	0.20369	1.07334	-0.405416974308032	0.24838	1.362389	0.0776533766164252	0.15765	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	4.41	3.3	0.36912	0.273000	0.18425	3.318000	0.37521	0.665000	0.62972	0.922000	0.32020	1.000000	0.68203	0.370000	0.26111	0.5563:0.3356:0.1081:0.0	5.412	0.15649	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	432.53	31	chr17	81445080	.	A	G	432.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.25;DP=195;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=-0.556;SOR=0.892	GT:AD:DP:GQ:PL	0/1:18,20:38:99:443,0,362	6	0	1	0
chr18	8825273	8825273	C	T	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378207:exon13:c.C4720T:p.R1574C,MTCL1:NM_001378206:exon14:c.C4843T:p.R1615C,MTCL1:NM_015210:exon15:c.C3763T:p.R1255C	.	426	1064	30	2	0	34	0.0157262	.	.	.	727831	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0018	0.00319489	0.0025	0.0026	0.0015	0	0	0.0013	0.0064	0.0148	0.0024385	377	154602	rs115783507	0.0017	0.0018	0.0013	0.0021	0.0150	0.0016	0.0016	0.0142	0.0140	0.0024	0.0013	0.0066	0	0.0002	0.0093	0.0007	0.0026	0.0150	0.0019	0.0019	0.0017	0.0021	0.0139	0.0017	0.0016	0.0112	0.0102	0.0026	0	0.0014	0.0032	0	0	0.0034	0.0010	0.0033	0.0139	0.231	0.18246	T	0.058	0.48336	T	0.04	0.21238	B	0.006	0.12133	B	0.808809	0.09266	N	0.896444	1	0.08975	N	1.12	0.28775	L	2.46	0.32238	T	-2.34	0.51811	N	0.121	0.17828	-0.9916	0.32193	T	0.058	0.24279	T	10	0.006587088	0.00149	T	.	.	.	0.058	0.16647	.	.	0.433269665224	0.42948	0.12311606395852297	0.12237	0.132553004888	0.14941	0.273410499096	0.06589	T	0.065638	0.32740	T	-0.542483	0.00324	T	-0.54034	0.18263	T	0.0187244205625075	0.00585	T	0.783822	0.42110	T	0.0751708	0.16919	0.030532356	0.01521	0.0751708	0.16918	0.030532356	0.01521	-5.308	0.40022	T	.	.	0.084	0.09723	B	.;.;.;.;.	.;.;.;.;.	1.482506	0.19084	14.08	0.6408629089340887	0.07398	0.72841	0.35641	D	AEFDBCI	0.292055	0.40303	N	-0.607389848959107	0.18722	0.9742389	-0.630697175372214	0.18706	1.000479	0.999981598357496	0.51787	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.04	-0.226	0.12460	2.502000	0.45058	-0.736000	0.07640	0.599000	0.40250	0.995000	0.38783	0.000000	0.08366	0.028000	0.12845	0.1211:0.5581:0.1173:0.2035	3.262	0.06447	846	0.36215	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.000000	0.005848	0.050000	0.008621	0.009146	0.011364	0.07143	989.46	37	chr18	8825273	.	C	T	989.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.372;DP=346;ExcessHet=0;FS=1.655;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=0.161;SOR=0.53	GT:AD:DP:GQ:PL	0/1:60,39:99:99:1000,0,1600	6	0	1	0
chr18	9255473	9255473	A	G	exonic	ANKRD12	.	nonsynonymous SNV	ANKRD12:NM_001083625:exon8:c.A2137G:p.T713A,ANKRD12:NM_001204056:exon8:c.A2137G:p.T713A,ANKRD12:NM_015208:exon9:c.A2206G:p.T736A	.	440	1057	25	0	0	25	0.0116877	.	.	.	3547058	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.162	.	0.0076	0.00299521	0.0091	0.0024	0.0050	0	0.0080	0.0130	0.0082	0.0056	0.0087062	1346	154602	rs114230285	0.0092	0.0091	0.0094	0.0090	0.0104	0.0090	0.0090	0.0102	0.0102	0.0019	0.0043	0.0050	2.587e-05	0.0059	0.0078	0.0104	0.0082	0.0058	0.0059	0.0059	0.0066	0.0053	0.0099	0.0056	0.0055	0.0092	0.0090	0.0018	0	0.0040	0.0049	0	0.0036	0.0034	0.0099	0.0085	0.0048	0.433	0.09458	T	0.797	0.04142	T	0.0	0.02946	B	0.0	0.04355	B	0.035276	0.24665	N	0.444910	1	0.08975	N	-0.06	0.04898	N	-2.99	0.92108	D	-0.33	0.12472	N	0.074	0.04790	-0.7407	0.58417	T	0.291	0.66288	T	10	0.0035377443	0.00063	T	.	.	.	0.162	0.41843	.	.	0.151262610727	0.14761	0.007321108822763013	0.00698	.	.	0.310919225216	0.12045	T	0.004863	0.04280	T	-0.505411	0.00533	T	-0.48644	0.23764	T	0.000794020032158277	0.00007	T	0.50265	0.15781	T	0.023449413	0.01085	0.015422944	0.00007	0.023449413	0.01085	0.015422944	0.00007	-3.784	0.20834	T	.	.	0.067	0.02428	B	.;.	.;.	-0.456095	0.02011	0.179	0.75694506732214184	0.11175	0.01337	0.04602	N	AEFBI	0.072961	0.14577	N	-1.06985989756284	0.07203	0.3339344	-0.984005802213982	0.10145	0.5090687	0.52689607684772	0.21143	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.95	-0.551	0.11230	-0.562000	0.06041	0.092000	0.14529	-0.113000	0.14837	0.000000	0.06391	0.067000	0.22148	0.970000	0.54328	0.3209:0.1537:0.3752:0.1502	1.711	0.02718	356	0.85138	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.010574	0.000000	0.013587	0.017544	0.050000	0.000000	0.006098	0.015152	0.07143	345.53	33	chr18	9255473	.	A	G	345.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.79;DP=185;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.8;ReadPosRankSum=-1.628;SOR=0.582	GT:AD:DP:GQ:PL	0/1:14,13:27:99:356,0,326	6	0	1	0
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	1890.48	127	chr18	14513679	.	T	G	1890.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=2.8;DP=845;ExcessHet=8.2628;FS=14.603;MLEAC=6;MLEAF=0.429;MQ=51.15;MQRankSum=-7.498;QD=2.38;ReadPosRankSum=-2.668;SOR=1.982	GT:AD:DP:GQ:PL	0/1:170,26:196:99:105,0,4390	1	0	6	0
chr18	24170334	24170334	C	T	exonic	OSBPL1A	.	nonsynonymous SNV	OSBPL1A:NM_018030:exon10:c.G872A:p.S291N,OSBPL1A:NM_001242508:exon12:c.G1265A:p.S422N,OSBPL1A:NM_080597:exon24:c.G2411A:p.S804N	.	435	1065	20	2	0	24	0.0111421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00347509298381	0.0025	0.00179712	0.0028	0.0002	0.0029	0	0.0009	0.0040	0.0055	0.0018	0.0027102	419	154602	rs145164093	0.0029	0.0029	0.0029	0.0029	0.0224	0.0028	0.0028	0.0192	0.0180	0.0007	0.0031	0.0081	0	0.0010	0.0224	0.0030	0.0040	0.0015	0.0023	0.0023	0.0023	0.0023	0.0037	0.0021	0.0020	0.0029	0.0026	0.0004	0.0033	0.0037	0.0078	0	0.0011	0.0170	0.0031	0.0061	0.0017	0.189	0.24183	T	0.47	0.16964	T	0.005	0.12996	B	0.016	0.17743	B	0.000007	0.62929	D	0.178386	0.993487	0.42998	D	0.465	0.13073	N	0.88	0.46028	T	-0.94	0.25118	N	0.084	0.09349	-1.0874	0.05978	T	0.046	0.19680	T	10	0.0076363385	0.00173	T	0.003475	0.07847	T	0.054	0.15330	.	.	0.447901950027	0.44410	0.5501369350353928	0.54939	0.612468718494	0.55841	0.471761316061	0.34923	T	0.008211	0.07549	T	-0.585582	0.00178	T	-0.613109	0.11734	T	0.0148710582945456	0.00315	T	0.858514	0.54939	D	0.092811055	0.21782	0.09101889	0.21376	0.092811055	0.21782	0.09101889	0.21376	-3.778	0.23203	T	.	.	0.072	0.04080	B	.;.;.;.	.;.;.;.	3.091758	0.41634	21.4	0.944233536273972	0.24831	0.88817	0.48929	D	AEFBCI	0.255581	0.37468	N	-0.0708103212032958	0.38677	2.268942	0.163818028084428	0.47879	3.011576	0.613633015583558	0.21824	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.89	5.89	0.94758	2.318000	0.43438	7.637000	0.63009	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1448:0.7834:0.0:0.0718	9.341	0.37241	942	0.12992	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.010101	0.027174	0.026316	0.000000	0.017241	0.009146	0.007576	0.08333	768.27	34	chr18	24170334	.	C	T	768.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.145;DP=244;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.11;ReadPosRankSum=1.54;SOR=0.716	GT:AD:DP:GQ:PL	0/1:41,35:76:99:778,0,986	5	0	1	1
chr18	31388386	31388386	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon4:c.C236T:p.S79L,DSG4:NM_177986:exon4:c.C236T:p.S79L	Hypotrichosis 6, Autosomal recessive	1	1486	35	0	0	35	0.0116395	.	.	.	715937	Hypotrichosis_6|DSG4-related_disorder|not_provided	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.0048	0.00439297	0.0042	0.0046	0.0027	0	0	0.0051	0.0044	0.0053	0.0040297	623	154602	rs36040686	0.0032	0.0032	0.0030	0.0033	0.0191	0.0031	0.0031	0.0162	0.0151	0.0050	0.0033	0.0436	0	0.0003	0.0191	0.0020	0.0065	0.0048	0.0038	0.0038	0.0039	0.0037	0.0060	0.0035	0.0034	0.0043	0.0037	0.0031	0	0.0042	0.0542	0	0.0004	0.0340	0.0021	0.0057	0.0060	0.264	0.16358	T	0.155	0.31936	T	0.054	0.22658	B	0.046	0.24676	B	0.727362	0.06349	N	1.212930	0.999999	0.08975	N	0.915	0.23335	L	0.74	0.50459	T	-1.75	0.41428	N	0.107	0.10340	-0.9614	0.38916	T	0.073	0.29675	T	10	0.0033466518	0.00058	T	.	.	.	0.010	0.01040	.	.	0.276898752692	0.27294	0.13389012196261588	0.13313	0.029762402894	0.03065	0.298493921757	0.10177	T	0.108723	0.42200	T	-0.647278	0.00075	T	-0.698542	0.05906	T	0.00208938657306135	0.00022	T	0.162684	0.01721	T	0.038331885	0.05086	0.049947403	0.07739	0.03988346	0.05589	0.039548468	0.04072	-2.372	0.04964	T	.	.	0.072	0.07224	B	.;.	.;.	-0.453279	0.02022	0.181	0.92623994699646028	0.22094	0.01138	0.04130	N	AEFI	0.026801	0.02075	N	-1.0116172173723	0.08362	0.3917972	-1.0389198890453	0.08939	0.4420613	0.00372337501722856	0.10253	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.73	-1.72	0.07671	-1.225000	0.03066	-3.198000	0.02978	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1368:0.358:0.0:0.5052	6.536	0.21550	643	0.63827	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025176	0.030303	0.036685	0.043860	0.000000	0.008621	0.009146	0.007576	0.1429	1709.24	34	chr18	31388386	.	C	T	1709.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=313;ExcessHet=0.3476;FS=1.297;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.92;SOR=0.589	GT:AD:DP:GQ:PL	0/1:35,40:75:99:991,0,858	5	0	2	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R,DSG4:NM_177986:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	576181	DSG4-related_disorder|not_provided|Hypotrichosis_6	.|MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.027694	0.035354	0.038043	0.046784	0.000000	0.008621	0.009146	0.011364	0.2143	4275.72	33	chr18	31399464	.	G	A	4275.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.56;DP=478;ExcessHet=1.1394;FS=1.791;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.082;SOR=0.802	GT:AD:DP:GQ:PL	0/1:79,77:156:99:2036,0,2060	4	0	3	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	556.67	26	chr18	31541297	.	G	A	556.67	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-0.963;DP=269;ExcessHet=4.1913;FS=371.42;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.61;ReadPosRankSum=1.51;SOR=8.977	GT:AD:DP:GQ:PL	0/1:40,25:65:99:183,0,654	0	0	4	3
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	133.24	35	chr18	37067197	.	G	A	133.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-7.087;DP=785;ExcessHet=0.3476;FS=129.294;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=0.634;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:210,39:249:71:.:.:71,0,4880:.	5	0	2	0
chr18	51177111	51177111	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1220C:p.F407S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.693	0.102199489435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.001	0.83351	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.06	0.39781	T	-7.43	0.94843	D	0.915	0.91736	-0.5608	0.66373	T	0.260	0.63055	T	10	0.8575133	0.84955	D	0.102199	0.77552	D	0.693	0.88867	0.523	0.62668	0.871121440729	0.86986	.	.	2.08113370078	0.94615	0.84824347496	0.89348	D	0.486903	0.81319	T	0.283754	0.81634	D	0.169817	0.81398	D	0.993432641029358	0.84232	D	0.955504	0.83071	D	0.7668921	0.81862	0.8345447	0.90481	0.7668921	0.81863	0.8345447	0.90482	-10.837	0.78756	D	.	.	0.997	0.96466	P	.;.	.;.	5.541891	0.91973	32	0.99862355508127409	0.94093	0.99359	0.94992	D	AEFBI	0.905263	0.85658	D	0.874282393817284	0.90444	10.40677	0.871452856671372	0.94204	12.58209	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	9.407000	0.80679	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	337.53	34	chr18	51177111	.	A	G	337.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.185;DP=327;ExcessHet=0;FS=63.529;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.87;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,20:141:99:0|1:51177111_A_G:348,0,4952:51177111	6	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	799.05	77	chr18	51177112	.	A	G	799.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.131;DP=548;ExcessHet=1.1394;FS=101.464;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.93;ReadPosRankSum=1.44;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,20:141:99:0|1:51177111_A_G:348,0,4952:51177111	4	0	3	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	777.05	77	chr18	51177115	.	C	T	777.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.434;DP=555;ExcessHet=1.383;FS=99.841;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.85;ReadPosRankSum=1.46;SOR=8.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,20:144:99:0|1:51177111_A_G:339,0,5077:51177111	3	0	3	1
chr18	51177121	51177121	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1210C:p.E404Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0103414181764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.048	0.48594	D	0.993	0.65571	D	0.813	0.58748	P	0.000001	0.62929	D	0.098325	0.999571	0.47641	D	1.975	0.53506	M	0.98	0.42122	T	-2.3	0.51157	N	0.291	0.32921	-0.9046	0.47493	T	0.177	0.52225	T	10	0.27463642	0.45018	T	0.010341	0.26763	T	0.169	0.43123	0.401	0.43081	0.529347144327	0.52582	.	.	1.3103030877	0.83193	0.667679488659	0.62507	T	0.13375	0.46460	T	-0.0795134	0.39793	T	-0.351992	0.38975	T	0.85820886835662	0.50888	D	0.961904	0.85651	D	0.2823534	0.51273	0.23955542	0.49307	0.2823534	0.51273	0.23955542	0.49306	-12.645	0.87848	D	.	.	0.460	0.62767	A	.;.	.;.	5.061369	0.84364	28.3	0.99623389986515531	0.75594	0.97755	0.76898	D	AEFBI	0.698287	0.65601	D	0.643224233656525	0.75929	6.394	0.693241619276502	0.81863	7.62779	0.999999997071113	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	4.960000	0.63380	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	461.34	43	chr18	51177121	.	C	G	461.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.951;DP=518;ExcessHet=0.3476;FS=149.541;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=2.31;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,20:150:99:0|1:51177111_A_G:322,0,5181:51177111	5	0	2	0
chr18	53305666	53305666	G	A	exonic	DCC	.	nonsynonymous SNV	DCC:NM_005215:exon13:c.G2000A:p.R667H	Colorectal cancer, somatic;Esophageal carcinoma, somatic;Mirror movements 1, Autosomal dominant	4	1483	32	3	0	38	0.0126498	.	.	.	185696	not_provided|Mirror_movements_1	MedGen:C3661900|MONDO:MONDO:0008002,MedGen:C1834870,OMIM:157600,Orphanet:238722	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.421	0.0277147776191	.	0.00199681	0.0016	9.623e-05	0.0002	0	0.0002	0.0004	0.0022	0.0099	0.0014295	221	154602	rs200099519	0.0008	0.0008	0.0006	0.0011	0.0099	0.0008	0.0008	0.0080	0.0078	5.975e-05	0.0004	0.0002	2.52e-05	0	0.0099	0.0003	0.0012	0.0085	0.0005	0.0005	0.0005	0.0006	0.0077	0.0004	0.0004	0.0057	0.0051	9.624e-05	0	0.0004	0.0003	0	9.432e-05	0.0238	0.0003	0.0014	0.0077	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.605	0.76211	M	0.6	0.53731	T	-4.14	0.75220	D	0.708	0.71587	-0.4276	0.71144	T	0.341	0.70705	T	10	0.009708822	0.00218	T	0.027715	0.50496	D	0.421	0.73005	0.468	0.54052	0.799269044683	0.79740	0.39999589072331615	0.39914	0.790290557923	0.65750	0.695385456085	0.66478	T	0.331755	0.70179	T	-0.152377	0.27941	T	0.0155935	0.71344	D	0.102065058359253	0.12583	T	0.944006	0.78847	D	0.85099375	0.87409	0.77656585	0.86819	0.8476411	0.87163	0.7747531	0.86710	-10.559	0.77185	D	.	.	0.175	0.45520	B	.;.;.	.;.;.	5.025069	0.83534	28.1	0.99297806414847678	0.58505	0.98847	0.87641	D	AEFI	0.902154	0.84971	D	0.877066562431841	0.90591	10.47437	0.875903104390561	0.94434	12.75806	0.999999427704446	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	9.423000	0.96699	9.926000	0.82543	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.718	0.91645	597	0.68309	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.005051	0.004076	0.011696	0.000000	0.034483	0.006098	0.011364	0.07143	713.53	35	chr18	53305666	.	G	A	713.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.228;DP=230;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=1.01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:29,31:60:99:724,0,637	6	0	1	0
chr18	59454948	59454948	T	C	exonic	CCBE1	.	nonsynonymous SNV	CCBE1:NM_133459:exon6:c.A557G:p.H186R	Hennekam lymphangiectasia-lymphedema syndrome 1, Autosomal recessive	1	1513	8	0	0	8	0.00263678	.	.	.	879659	Hennekam_lymphangiectasia-lymphedema_syndrome_1|not_specified|not_provided|CCBE1-related_disorder	MONDO:MONDO:0009337,MedGen:C4012050,OMIM:235510,Orphanet:2136|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.00985577790729	0.0002	0.000798722	0.0010	0	0.0002	0	0	0.0006	0.0011	0.0051	0.0008861	137	154602	rs115071386	0.0006	0.0006	0.0005	0.0007	0.0042	0.0005	0.0005	0.0038	0.0037	0.0001	0.0004	0.0010	0	0	0.0016	0.0003	0.0008	0.0042	0.0004	0.0004	0.0003	0.0005	0.0023	0.0003	0.0003	0.0013	0.0010	4.813e-05	0	0.0003	0.0017	0.0002	0	0.0034	0.0005	0.0019	0.0023	0.192	0.20988	T	0.358	0.19131	T	0.0	0.02946	B	0.0	0.01387	B	0.081452	0.20865	N	0.505414	0.999999	0.58761	D	1.79	0.46772	L	-0.35	0.68616	T	-1.19	0.30346	N	0.158	0.16447	-1.0169	0.24722	T	0.136	0.45145	T	10	0.0049586296	0.00106	T	0.009856	0.25698	T	0.105	0.29889	.	.	0.659007425792	0.65615	0.44647859913766336	0.44565	0.0774815839062	0.08712	0.384358525276	0.22873	T	0.022505	0.17341	T	-0.449503	0.01137	T	-0.418053	0.31298	T	0.0141161559240722	0.00275	T	0.441056	0.12198	T	0.0345036	0.03885	0.052201126	0.08554	0.0345036	0.03885	0.052201126	0.08553	-2.19	0.03992	T	0.12651052266418664	0.12784	0.064	0.02012	B	.;.;.	.;.;.	1.128147	0.15144	11.62	0.68940301646394486	0.08814	0.05264	0.11102	N	AEFDBCIJ	0.055996	0.10315	N	-0.851005316199243	0.12026	0.583689	-0.836019753879837	0.13624	0.7077709	0.999960463169472	0.48965	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.63	1.77	0.23848	0.293000	0.18785	0.073000	0.14287	0.665000	0.62972	0.253000	0.24879	0.016000	0.20520	0.720000	0.34772	0.198:0.1002:0.1636:0.5381	1.380	0.02094	945	0.12563	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.006098	0.003788	0.07143	1539.44	35	chr18	59454948	.	T	C	1539.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.948;DP=308;ExcessHet=0;FS=4.478;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.681;SOR=0.381	GT:AD:DP:GQ:PL	0/1:57,71:128:99:1550,0,1471	6	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	693.59	29	chr18	65824683	.	C	G	693.59	.	AC=5;AF=0.5;AN=10;BaseQRankSum=0.023;DP=379;ExcessHet=8.9625;FS=442.858;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.6;ReadPosRankSum=1.02;SOR=9.401	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,23:65:99:0|1:65824683_C_G:200,0,827:65824683	0	0	5	2
chr18	74353735	74353735	C	T	exonic	C18orf63	.	nonsynonymous SNV	C18orf63:NM_001174123:exon12:c.C1468T:p.R490C	.	440	1081	1	0	0	1	0.000462321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.0129602597097	.	0.000199681	7.005e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs572659007	2.024e-05	1.915e-05	1.855e-05	2.197e-05	0.0005	1.403e-05	1.208e-05	0.0003	0.0003	3.166e-05	0	0	0.0005	0	0	4.635e-06	0	5.049e-05	2.629e-05	2.626e-05	3.856e-05	1.345e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.394e-05	0	0	0	0	0.0006	0	0	0	0	0.0002	.	.	.	0.077	0.42436	T	1.0	0.90584	D	0.938	0.67350	D	0.052183	0.22916	N	0.379064	1	0.08975	N	2.42	0.70002	M	0.87	0.46412	T	.	.	.	0.271	0.30687	-0.9696	0.37283	T	0.166	0.50372	T	9	0.059342057	0.07118	T	0.01296	0.31981	T	.	.	0.282	0.23801	0.365317461125	0.36143	0.6245759726350817	0.62390	.	.	.	.	.	0.094343	0.39397	T	-0.27371	0.11346	T	-0.259856	0.48839	T	0.325168306054829	0.26030	T	0.59804	0.22252	T	0.12449977	0.29209	0.14574455	0.34554	0.12449977	0.29209	0.14574455	0.34553	-4.108	0.25408	T	.	.	0.152	0.33732	B	.	.	2.231157	0.28483	17.81	0.37221213982555451	0.02440	0.05650	0.11563	N	AEFGBCI	0.052497	0.09376	N	-0.375094303831125	0.26359	1.437995	-0.600761177059275	0.19473	1.044948	0.0309106959571959	0.13972	0.59774	0.34471	0	0.615948	0.52940	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	5.42	0.418	0.15647	0.053000	0.14067	2.215000	0.31401	-0.117000	0.14459	0.009000	0.18154	0.006000	0.19429	0.061000	0.16044	0.5892:0.1541:0.2567:0.0	4.758	0.12467	988	0.01987	Domain of unknown function DUF4708	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2436.29	34	chr18	74353735	.	C	T	2436.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.15;DP=355;ExcessHet=0.3476;FS=3.218;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.897;SOR=0.952	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1335,0,1316	5	0	2	0
chr18	80136273	80136273	C	T	exonic	ADNP2	.	nonsynonymous SNV	ADNP2:NM_014913:exon4:c.C860T:p.A287V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0109558198651	.	.	6.596e-05	0	0.0002	0	0	7.501e-05	0	6.059e-05	5.17e-05	8	154602	rs746538568	3.216e-05	3.283e-05	3.404e-05	3.026e-05	0.0002	2.478e-05	2.221e-05	0.0001	7.818e-05	8.962e-05	0.0002	0.0003	0	0	0	1.529e-05	8.282e-05	6.956e-05	5.911e-05	5.909e-05	6.421e-05	5.376e-05	0.0003	3.076e-05	2.209e-05	8.873e-05	5.283e-05	2.411e-05	0	0.0003	0	0	0	0	4.409e-05	0	0.0002	0.065	0.36310	T	0.17	0.30436	T	0.99	0.63424	D	0.469	0.46748	P	0.000175	0.48594	D	0.087247	0.999999	0.08975	N	2.175	0.60977	M	.	.	.	-1.11	0.28703	N	0.064	0.03613	-1.0353	0.18762	T	0.072	0.29163	T	8	0.108804226	0.20270	T	0.010956	0.28083	T	0.117	0.32689	.	.	0.605465558274	0.60230	0.21509653508929813	0.21425	0.517838923468	0.49650	0.43292221427	0.29608	T	0.040735	0.25625	T	-0.247779	0.14371	T	-0.324394	0.42091	T	0.177874147891998	0.19100	T	0.586841	0.21439	T	0.024569076	0.01301	0.04443184	0.05757	0.024569076	0.01301	0.04443184	0.05756	-3.975	0.23428	T	.	.	0.088	0.11461	B	.	.	1.596257	0.20413	14.74	0.99587694189043852	0.73395	0.15013	0.18700	N	AEFBCI	0.096091	0.19404	N	-0.134468375544877	0.35898	2.067867	-0.198768249303465	0.31582	1.788687	0.999975872104842	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.42	5.42	0.78666	1.837000	0.38841	1.049000	0.23621	-0.171000	0.11205	0.029000	0.20367	0.013000	0.20296	0.001000	0.02609	0.0:0.9255:0.0:0.0745	12.685	0.56310	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1850.44	54	chr18	80136273	.	C	T	1850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.291;DP=484;ExcessHet=0;FS=0.658;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.13;ReadPosRankSum=0.286;SOR=0.602	GT:AD:DP:GQ:PL	0/1:57,74:131:99:1861,0,1252	6	0	1	0
chr19	1047509	1047515	GGAGCAG	-	exonic	ABCA7	.	frameshift deletion	ABCA7:NM_019112:exon16:c.2124_2130del:p.E709Afs*86	.	.	.	.	.	.	.	.	.	.	.	227447	Primary_degenerative_dementia_of_the_Alzheimer_type,_presenile_onset|Alzheimer_disease_9|not_specified|not_provided|ABCA7-related_disorder	MedGen:C5779573|MONDO:MONDO:0012153,MedGen:C4282179,OMIM:608907|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	.	.	0.0028	0.000599042	0.0024	0.0009	0.0014	0	0.0049	0.0042	0.0034	0	0.0009056	140	154602	rs547447016	0.0023	0.0023	0.0025	0.0021	0.0027	0.0022	0.0022	0.0026	0.0026	0.0004	0.0009	0.0002	0	0.0026	0.0002	0.0027	0.0026	0	0.0017	0.0017	0.0018	0.0017	0.0030	0.0016	0.0015	0.0027	0.0025	0.0004	0	0.0012	0	0	0.0020	0	0.0030	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	320.23	17	chr19	1047508	.	AGGAGCAG	A	320.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.143;DP=148;ExcessHet=0;FS=3.624;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.304;SOR=0.612	GT:AD:DP:GQ:PL	0/1:16,9:25:99:330,0,645	5	0	1	1
chr19	1221961	1221961	A	T	exonic	STK11	.	nonsynonymous SNV	STK11:NM_000455:exon7:c.A875T:p.Y292F	Melanoma, malignant, somatic (3);Pancreatic cancer, Autosomal dominant, Somatic mutation, Multifactorial;Peutz-Jeghers syndrome, Autosomal dominant;Testicular tumor, somatic	.	.	.	.	.	.	.	.	.	YES	133163	Hereditary_cancer-predisposing_syndrome|Peutz-Jeghers_syndrome|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0008280,MeSH:D010580,MedGen:C0031269,OMIM:175200,Orphanet:2869|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.405	0.0779963610485	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs587780011	4.256e-06	4.788e-06	5.609e-06	2.87e-06	5.525e-06	1.53e-06	1.01e-06	1.99e-06	1.31e-06	0	0	0	0	0	0	5.525e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	0.05002	T	0.691	0.05901	T	0.04	0.21238	B	0.059	0.26602	B	0.000001	0.62929	D	0.058504	1	0.81001	D	-0.095	0.04716	N	-1.64	0.82533	D	-1.23	0.31170	N	0.668	0.67650	-0.6898	0.60917	T	0.295	0.66631	T	10	0.3792882	0.54071	T	0.077996	0.72903	D	0.405	0.71791	0.399	0.42753	0.727573104856	0.72515	0.612109895168551	0.61142	0.0600406016189	0.06680	0.663718402386	0.61940	T	0.276488	0.71423	T	0.00895592	0.52882	T	-0.148672	0.59361	T	0.25715845823288	0.23190	T	0.971703	0.89738	D	0.27905607	0.50957	0.091586486	0.21541	0.27905607	0.50957	0.091586486	0.21541	-4.921	0.35970	T	0.13810752744038862	0.15253	0.217	0.44694	B	.;.	.;.	2.759251	0.36189	20.2	0.88464424506121286	0.17997	0.96729	0.70627	D	AEFDBCI	0.841804	0.75897	D	-0.400309920564727	0.25459	1.382136	-0.279614721480547	0.28770	1.60672	0.999999999993124	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	3.56	3.56	0.39892	5.602000	0.67298	4.563000	0.43849	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.641000	0.32449	1.0:0.0:0.0:0.0	12.329	0.54353	958	0.09170	Protein kinase domain|Protein kinase domain|Protein kinase domain|Serine/Threonine kinase LKB1, catalytic domain;Protein kinase domain|Protein kinase domain|Protein kinase domain|Serine/Threonine kinase LKB1, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	774.27	34	chr19	1221961	.	A	T	774.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.237;DP=243;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=1.94;SOR=0.746	GT:AD:DP:GQ:PL	0/1:42,37:79:99:784,0,919	5	0	1	1
chr19	1481959	1481959	C	T	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon15:c.G2068A:p.D690N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.00683589225434	.	0.00119808	0.0008	0	0	0	0	2.522e-05	0	0.0057	0.0004592	71	154602	rs370118405	0.0003	0.0003	0.0002	0.0004	0.0043	0.0003	0.0003	0.0040	0.0038	6.018e-05	9.152e-05	0	2.547e-05	0	0	4.164e-05	0.0003	0.0043	0.0001	0.0001	0.0001	0.0002	0.0037	9.18e-05	7.731e-05	0.0024	0.0020	4.848e-05	0	0	0	0	0	0	1.473e-05	0	0.0037	0.313	0.13879	T	0.317	0.19304	T	0.0	0.02946	B	0.0	0.01387	B	0.026923	0.01658	N	3.408990	1	0.08975	N	-0.145	0.04423	N	-0.38	0.69027	T	-0.97	0.25770	N	0.043	0.01577	-0.9485	0.41228	T	0.178	0.52365	T	10	0.0046559274	0.00097	T	0.006836	0.18065	T	0.124	0.34239	0.165	0.06955	0.37281450598	0.36888	0.3608724919813332	0.36001	0.179901956931	0.20237	0.353044986725	0.18369	T	0.072882	0.34563	T	-0.617628	0.00114	T	-0.660795	0.08212	T	0.0195562883452976	0.00658	T	0.424058	0.11326	T	0.03332653	0.03529	0.02440635	0.00460	0.03332653	0.03529	0.02440635	0.00460	-4.719	0.33634	T	.	.	0.079	0.07130	B	.	.	-1.429029	0.00340	0.006	0.96029937049651037	0.28500	0.01000	0.03786	N	AEFBI	0.084019	0.17025	N	-1.31534894517679	0.03499	0.1563975	-1.42837563261018	0.02971	0.1377401	0.10019830018773	0.16348	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.65	-4.76	0.02994	-1.455000	0.02485	-4.432000	0.02159	-0.448000	0.05150	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1658:0.0:0.8342	11.476	0.49547	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	448.23	16	chr19	1481959	.	C	T	448.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.1;DP=168;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.319;SOR=0.804	GT:AD:DP:GQ:PL	0/1:19,18:37:99:458,0,442	5	0	1	1
chr19	1627370	1627370	C	T	exonic	TCF3	.	nonsynonymous SNV	TCF3:NM_001136139:exon6:c.G355A:p.G119S,TCF3:NM_001351778:exon6:c.G355A:p.G119S,TCF3:NM_001351779:exon6:c.G355A:p.G119S,TCF3:NM_003200:exon6:c.G355A:p.G119S	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1158435	not_provided|TCF3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.038	.	0.0032	0.00179712	0.0010	0.0110	0.0007	0	0	0.0001	0	0.0002	0.0007244	112	154602	rs35936626	0.0003	0.0003	0.0003	0.0003	0.0086	0.0003	0.0002	0.0077	0.0074	0.0086	0.0003	0	7.564e-05	0	0.0002	5.31e-05	0.0006	8.169e-05	0.0022	0.0022	0.0023	0.0021	0.0076	0.0020	0.0019	0.0069	0.0066	0.0076	0	0.0006	0	0	0	0	5.88e-05	0.0014	0	0.063	0.37118	T	0.119	0.39190	T	0.139	0.35811	B	0.015	0.22546	B	0.672950	0.06047	N	1.206210	1	0.08975	N	0.71	0.18616	N	0.54	0.54911	T	-2.04	0.53898	N	0.18	0.28264	-1.0182	0.24301	T	0.059	0.24871	T	10	0.0039866865	0.00077	T	.	.	.	0.038	0.09825	.	.	0.326074293725	0.32213	0.21748503839075217	0.21664	0.036072396587	0.03809	0.467045307159	0.34275	T	0.445014	0.78820	T	-0.543338	0.00320	T	-0.54713	0.17601	T	0.00372460004735547	0.00039	T	0.782822	0.44137	T	0.060066372	0.12282	0.07379411	0.16076	0.04788793	0.08257	0.07437483	0.16262	-3.701	0.25054	T	0.2465317082936333	0.33387	0.059	0.02894	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.420370	0.02138	0.205	0.85404515132659331	0.15872	0.00382	0.01931	N	AEFBI	0.039499	0.05745	N	-1.25899390422182	0.04182	0.1882775	-1.40418719248045	0.03209	0.1492582	0.0407314099394842	0.14453	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.79	-4.95	0.02821	-0.879000	0.04296	-3.733000	0.02573	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.051000	0.15275	0.0:0.2194:0.1361:0.6444	6.726	0.22545	976	0.04745	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.000507	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.000000	0.07143	890.49	30	chr19	1627370	.	C	T	890.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.7;DP=245;ExcessHet=0;FS=0.813;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-1.253;SOR=0.793	GT:AD:DP:GQ:PL	0/1:42,40:82:99:901,0,849	6	0	1	0
chr19	4306312	4306312	C	T	exonic	FSD1	.	nonsynonymous SNV	FSD1:NM_001330429:exon3:c.C226T:p.R76C,FSD1:NM_024333:exon3:c.C226T:p.R76C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.198903453677	.	.	1.65e-05	0	0	0	0	1.501e-05	0	6.057e-05	6.5e-06	1	154602	rs746789026	6.157e-06	6.84e-06	5.445e-06	6.876e-06	5.974e-05	2.9e-06	2.1e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	3.597e-06	0	2.319e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.899	0.63802	P	0.000008	0.62929	N	0.064020	0.999234	0.46406	D	1.935	0.51832	L	0.86	0.46777	T	-4.97	0.82063	D	0.756	0.75466	-0.8045	0.54879	T	0.192	0.54448	T	10	0.7014946	0.72472	D	0.198903	0.86621	D	0.307	0.62838	0.452	0.51448	0.276254252017	0.27237	0.7324857573764615	0.73193	1.35464816004	0.84160	0.832290530205	0.86914	D	0.295772	0.66843	T	0.0111083	0.53177	T	-0.124966	0.61393	T	0.968610346317291	0.68304	D	0.949205	0.80472	D	0.62604904	0.74087	0.39776722	0.64383	0.62604904	0.74088	0.39776722	0.64383	-10.626	0.77568	D	.	.	0.539	0.66308	A	.;.	.;.	5.319182	0.89281	29.9	0.99904550041424145	0.97576	0.90142	0.51089	D	AEFDBI	0.603607	0.59502	D	0.386393182972379	0.60684	4.260047	0.317569202343109	0.56572	3.820695	0.00245080001144556	0.09436	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.48	2.18	0.26813	3.261000	0.51233	2.038000	0.30286	0.535000	0.24933	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1801:0.7193:0.0:0.1006	6.446	0.21075	934	0.15400	B-box, C-terminal;B-box, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	912.63	37	chr19	4306312	.	C	T	912.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.819;DP=262;ExcessHet=0;FS=0.872;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.273;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,39:74:99:0|1:4306312_C_T:923,0,727:4306312	6	0	1	0
chr19	6755168	6755168	C	T	exonic	SH2D3A	.	nonsynonymous SNV	SH2D3A:NM_005490:exon5:c.G644A:p.R215Q	.	431	1079	12	0	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.0130555189363	0.0006	0.000199681	0.0006	0	0.0003	0.0001	0	0.0009	0.0023	0.0006	0.0004657	72	154602	rs139813452	0.0006	0.0006	0.0006	0.0007	0.0058	0.0006	0.0006	0.0042	0.0037	0.0003	0.0002	0.0117	0	0	0.0058	0.0004	0.0015	0.0008	0.0004	0.0004	0.0004	0.0003	0.0004	0.0003	0.0003	0.0002	0.0001	7.235e-05	0	0.0003	0.0075	0	0	0	0.0003	0.0005	0.0004	0.151	0.24564	T	0.0	0.92824	D	1.0	0.90584	D	0.95	0.68788	D	0.003790	0.34487	N	0.000000	0.622903	0.33738	D	2.515	0.73286	M	1.32	0.35219	T	-1.17	0.32387	N	0.238	0.29081	-0.5966	0.64955	T	0.200	0.55625	T	10	0.007838309	0.00178	T	0.013056	0.32163	T	0.114	0.32008	.	.	0.697679765967	0.69506	0.4191840507844904	0.41834	0.948468269422	0.72514	0.386554598808	0.23182	T	0.081848	0.36692	T	-0.307122	0.08005	T	-0.319252	0.42656	T	0.554415106773376	0.34643	D	0.829317	0.49436	T	0.104006454	0.24584	0.064677715	0.12999	0.104006454	0.24584	0.064677715	0.12998	-9.529	0.71039	D	.	.	0.102	0.17785	B	.;.	.;.	3.860392	0.55978	23.7	0.99897786711129255	0.97048	0.97645	0.76123	D	AEFDBHI	0.584879	0.58353	D	0.460673285849471	0.64810	4.744259	0.388358732190324	0.60845	4.276993	0.999999999322786	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.53	4.53	0.55009	3.683000	0.54396	1.666000	0.27927	0.524000	0.24156	1.000000	0.71638	0.998000	0.33993	0.432000	0.27494	0.0:1.0:0.0:0.0	14.758	0.69208	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.005051	0.006793	0.011696	0.000000	0.008621	0.003049	0.000000	0.07143	1027.53	38	chr19	6755168	.	C	T	1027.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.15;DP=275;ExcessHet=0;FS=0.881;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-1.613;SOR=0.751	GT:AD:DP:GQ:PL	0/1:35,38:73:99:1038,0,740	6	0	1	0
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	60.16	62	chr19	8888076	.	G	A	60.16	.	AC=2;AF=0.25;AN=8;BaseQRankSum=2.76;DP=402;ExcessHet=0.4139;FS=4.063;MLEAC=2;MLEAF=0.25;MQ=59.56;MQRankSum=-5.61;QD=0.54;ReadPosRankSum=0;SOR=1.111	GT:AD:DP:GQ:PL	0/1:69,5:74:2:2,0,2882	2	0	2	3
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	756.06	34	chr19	8899972	.	T	C	756.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.381;DP=962;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59;MQRankSum=-14.4;QD=1.13;ReadPosRankSum=2.57;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,15:209:46:0|1:8899972_T_C:46,0,8101:8899972	3	0	3	1
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	735.06	34	chr19	8899974	.	G	A	735.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.011;DP=969;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.01;MQRankSum=-14.4;QD=1.08;ReadPosRankSum=2.78;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,15:209:46:0|1:8899972_T_C:46,0,8101:8899972	3	0	3	1
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	864.06	34	chr19	8899979	.	G	T	864.06	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.412;DP=989;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=59.02;MQRankSum=-14.51;QD=1.24;ReadPosRankSum=3.03;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,15:212:37:0|1:8899972_T_C:37,0,8227:8899972	3	0	3	1
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	770.05	105	chr19	8908637	.	C	G	770.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=1.11;DP=887;ExcessHet=1.1394;FS=9.879;MLEAC=3;MLEAF=0.25;MQ=58.57;MQRankSum=-9.237;QD=1.74;ReadPosRankSum=-0.167;SOR=1.813	GT:AD:DP:GQ:PL	0/1:146,13:159:99:106,0,6091	3	0	3	1
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	698.05	105	chr19	8908644	.	C	G	698.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.997;DP=901;ExcessHet=1.1394;FS=12.178;MLEAC=3;MLEAF=0.25;MQ=58.31;MQRankSum=-9.345;QD=1.61;ReadPosRankSum=0.298;SOR=1.909	GT:AD:DP:GQ:PL	0/1:147,14:161:99:139,0,6070	3	0	3	1
chr19	8980773	8980773	C	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon1:c.G366T:p.M122I	.	427	1092	3	0	0	3	0.00137174	.	.	.	2811541	not_provided|MUC16-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.000805683190073	0.0053	0.00139776	0.0048	0.0011	0.0018	0	0.0030	0.0077	0.0033	0.0012	0.0050905	787	154602	rs149255523	0.0069	0.0069	0.0071	0.0066	0.0083	0.0068	0.0067	0.0082	0.0081	0.0012	0.0023	0.0002	2.519e-05	0.0033	0.0012	0.0083	0.0062	0.0007	0.0040	0.0040	0.0045	0.0036	0.0073	0.0038	0.0037	0.0068	0.0066	0.0015	0	0.0013	0	0	0.0022	0	0.0073	0.0024	0.0008	0.036	0.43393	D	0.254	0.23433	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	4.46	0.02102	T	-0.46	0.14978	N	0.046	0.01825	-0.9145	0.46285	T	0.003	0.00929	T	8	0.005569577	0.00123	T	8.06E-4	0.00629	T	0.008	0.00669	0.259	0.20159	0.0297737177859	0.01360	0.041948953364198995	0.04139	.	.	0.252386391163	0.04022	T	.	.	.	-0.718011	0.00028	T	-0.78987	0.02168	T	0.000680259322392347	0.00006	T	0.241376	0.03476	T	.	.	.	.	.	.	.	.	-3.448	0.15711	T	.	.	0.170	0.37407	B	.	.	-0.105336	0.03609	0.710	0.3625406590914334	0.02322	0.00911	0.03557	N	AEFBI	0.028473	0.02516	N	-1.30581530448491	0.03608	0.1614667	-1.41003759523337	0.03151	0.1464158	1.53248552172924E-4	0.05650	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.09	-1.74	0.07622	-1.068000	0.03558	.	.	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.0:0.4256:0.3244:0.2499	2.442	0.04223	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.07143	2190.46	38	chr19	8980773	.	C	A	2190.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.346;DP=344;ExcessHet=0;FS=6.444;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=0.12;SOR=1.207	GT:AD:DP:GQ:PL	0/1:58,79:137:99:2201,0,1474	6	0	1	0
chr19	9342953	9342953	C	G	exonic	ZNF559	.	nonsynonymous SNV	ZNF559:NM_001202406:exon6:c.C1694G:p.A565G,ZNF559:NM_001202407:exon6:c.C1376G:p.A459G,ZNF559:NM_032497:exon7:c.C1502G:p.A501G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00136038134136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.007	0.69154	D	0.354	0.33710	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	0.815	0.20815	L	2.55	0.13795	T	-2.77	0.58733	D	0.082	0.05799	-1.0384	0.17802	T	0.038	0.16246	T	9	0.17839259	0.32921	T	0.00136	0.01961	T	0.049	0.13647	0.701	0.83777	0.0920862733494	0.08535	0.011533392844399732	0.01113	0.00809239884712	0.00726	0.273878157139	0.06653	T	0.031742	0.22178	T	-0.33551	0.05705	T	-0.719714	0.04809	T	0.444570988416672	0.30597	T	0.90081	0.65783	D	0.15139048	0.34418	0.14850295	0.35102	0.15139048	0.34418	0.14850295	0.35101	-7.074	0.54573	T	.	.	0.194	0.42156	B	.;.;.;.	.;.;.;.	0.331013	0.07050	3.615	0.9767492954289223	0.35276	0.00003	0.00079	N	AEFDBHCI	0.062252	0.11956	N	-1.01265337762053	0.08341	0.3907311	-1.14960956201753	0.06775	0.32726	0.00213526174250699	0.09181	0.67177	0.52595	0	0.659464	0.62310	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	2.22	-1.32	0.08721	0.397000	0.20608	.	.	-0.459000	0.05119	0.000000	0.06391	0.000000	0.08366	0.563000	0.30483	0.0:0.3384:0.3953:0.2664	3.882	0.08587	970	0.06235	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1476.44	39	chr19	9342953	.	C	G	1476.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.718;DP=296;ExcessHet=0;FS=0.739;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=0.341;SOR=0.555	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1487,0,1305	6	0	1	0
chr19	11449092	11449092	A	G	exonic	PRKCSH	.	nonsynonymous SNV	PRKCSH:NM_001289102:exon15:c.A1348G:p.I450V,PRKCSH:NM_001001329:exon16:c.A1348G:p.I450V,PRKCSH:NM_001289103:exon16:c.A1378G:p.I460V,PRKCSH:NM_001289104:exon16:c.A1378G:p.I460V,PRKCSH:NM_001379608:exon16:c.A1357G:p.I453V,PRKCSH:NM_001379609:exon16:c.A1348G:p.I450V,PRKCSH:NM_002743:exon16:c.A1357G:p.I453V	Polycystic liver disease 1, Autosomal dominant	1	1494	27	0	0	27	0.00895522	.	.	.	256765	not_provided|Polycystic_liver_disease_1|not_specified	MedGen:C3661900|MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0053	0.00778754	0.0064	0.0011	0.0013	0.0073	0.0076	0.0065	0.0089	0.0119	0.006507	1006	154602	rs34351170	0.0076	0.0076	0.0073	0.0078	0.0129	0.0074	0.0074	0.0123	0.0121	0.0015	0.0015	0	0.0041	0.0054	0.0055	0.0081	0.0062	0.0129	0.0056	0.0056	0.0054	0.0057	0.0131	0.0052	0.0051	0.0105	0.0095	0.0011	0.0429	0.0025	0.0003	0.0079	0.0075	0	0.0077	0.0047	0.0131	.	.	.	0.531	0.10069	T	0.0	0.02946	B	0.001	0.04355	B	0.000324	0.45700	N	0.184815	0.999975	0.18612	N	-0.09	0.04745	N	-1.58	0.81987	D	.	.	.	0.156	0.16586	-0.8873	0.49163	T	0.203	0.55989	T	10	0.00853613	0.00193	T	.	.	.	.	.	.	.	0.283371740733	0.27958	0.5065078328404634	0.50572	.	.	0.487233489752	0.37056	T	0.153286	0.49406	T	-0.438522	0.01319	T	-0.392295	0.34284	T	0.00371138167468832	0.00039	T	0.0234976	0.00160	T	0.02781773	0.02027	0.029812073	0.01362	0.020555975	0.00618	0.027795853	0.00961	0.035	0.00366	T	.	.	0.058	0.00681	B	.;.;.;.	.;.;.;.	3.529203	0.49512	22.8	0.69236727640905305	0.08908	0.06733	0.12755	N	AEFDBCI	0.113277	0.22357	N	-0.657476909115767	0.17243	0.8856164	-0.497044359268979	0.22236	1.206725	0.629698680527482	0.21957	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.89	4.89	0.63387	2.699000	0.46744	.	.	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.212000	0.22240	0.1729:0.0:0.8271:0.0	9.535	0.38383	788	0.46569	.;Glucosidase 2 subunit beta-like;.;Glucosidase 2 subunit beta-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.002924	0.000000	0.025862	0.009146	0.011364	0.1429	2561.42	34	chr19	11449092	.	A	G	2561.42	.	AC=2;AF=0.143;AN=14;DP=261;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=31.24;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2582,245,0	6	1	0	0
chr19	12881105	12881105	G	C	exonic	DNASE2	.	nonsynonymous SNV	DNASE2:NM_001375:exon2:c.C134G:p.A45G	.	409	1105	8	0	0	8	0.00360685	.	.	.	1158405	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.017	0.0127536983497	0.0060	0.00199681	0.0050	0.0019	0.0037	0	0.0003	0.0073	0.0034	0.0028	0.0052393	810	154602	rs112348773	0.0076	0.0076	0.0077	0.0075	0.0116	0.0075	0.0074	0.0094	0.0087	0.0012	0.0052	0.0062	2.519e-05	0.0010	0.0116	0.0089	0.0073	0.0024	0.0051	0.0051	0.0057	0.0046	0.0087	0.0048	0.0047	0.0081	0.0079	0.0015	0	0.0046	0.0052	0.0002	0.0005	0.0102	0.0087	0.0062	0.0033	0.372	0.11478	T	0.521	0.10714	T	0.026	0.19406	B	0.063	0.27082	B	0.495557	0.05061	N	1.366640	1	0.08975	N	0.35	0.11930	N	2.51	0.17596	T	-0.9	0.24244	N	0.129	0.12341	-1.0013	0.29545	T	0.015	0.06282	T	10	0.0043547153	0.00088	T	0.012754	0.31594	T	0.017	0.02790	.	.	0.148003135375	0.14442	0.2683441953285732	0.26747	0.560273300196	0.52559	0.304706543684	0.11106	T	0.07564	0.35226	T	-0.654668	0.00068	T	-0.70213	0.05711	T	0.00470155657053513	0.00050	T	0.464953	0.13651	T	0.03689833	0.04628	0.036251202	0.03036	0.03689833	0.04628	0.036251202	0.03036	-3.775	0.20432	T	.	.	0.090	0.15070	B	.;.	.;.	0.762654	0.11325	7.945	0.61141236624801887	0.06635	0.08445	0.14373	N	AEFDGBCIJ	0.088819	0.18006	N	-1.22303293139151	0.04668	0.2111439	-1.28691288597175	0.04607	0.2176825	0.999982893370361	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.52208	0.10781	0	0.657601	0.63696	0	.	.	5.12	-1.36	0.08610	-0.046000	0.11937	.	.	-1.707000	0.00749	0.000000	0.06391	0.004000	0.18990	0.001000	0.02609	0.2546:0.0:0.3464:0.3989	3.613	0.07612	587	0.69154	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.005051	0.012228	0.000000	0.000000	0.000000	0.012195	0.003788	0.1429	2632.02	35	chr19	12881105	.	G	C	2632.02	.	AC=2;AF=0.143;AN=14;DP=276;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=29.24;SOR=0.784	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2652,270,0	6	1	0	0
chr19	12896047	12896047	C	A	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon7:c.C561A:p.D187E,GCDH:NM_013976:exon7:c.C561A:p.D187E	Glutaricaciduria, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2801291	Glutaric_aciduria,_type_1|GCDH-related_disorder	MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670,Orphanet:25|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.901	0.967618371041	7.7e-05	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs377580992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.005	0.72224	D	0.959	0.55135	D	0.725	0.55077	P	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.785	0.81254	M	-6.13	0.99538	D	-3.73	0.70920	D	0.977	0.98750	1.115	0.99891	D	0.982	0.99456	D	10	0.9817916	0.98223	D	0.967618	0.99799	D	0.901	0.97248	0.905	0.97985	0.939118346112	0.93849	0.8877451233806193	0.88743	0.795785766	0.66036	0.556223392487	0.46734	T	0.96423	0.99560	D	0.497178	0.94199	D	0.476386	0.94123	D	0.988478362560272	0.78800	D	0.993601	0.97904	D	0.9622602	0.97506	0.8700122	0.92867	0.9622602	0.97507	0.8700122	0.92867	-12.719	0.88172	D	0.7459342344112345	0.82802	0.748	0.74960	P	.;.	.;.	3.145859	0.42563	21.6	0.98900276564011114	0.48181	0.88076	0.47848	D	AEFDGBI	0.678878	0.64310	D	-0.287852708054425	0.29616	1.643984	-0.406703426663186	0.24800	1.36011	0.216449918472935	0.18303	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	-1.31	0.08749	0.893000	0.27970	.	.	-0.875000	0.02511	1.000000	0.71638	0.925000	0.28409	0.889000	0.42754	0.0:0.574:0.0:0.426	10.800	0.45687	611	0.66908	Acyl-CoA oxidase/dehydrogenase, central domain|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA oxidase/dehydrogenase, central domain|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2016.63	34	chr19	12896047	.	C	A	2016.63	.	AC=2;AF=0.143;AN=14;DP=219;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=34.18;SOR=2.342	GT:AD:DP:GQ:PL	1/1:0,59:59:99:2037,177,0	6	1	0	0
chr19	16385169	16385169	T	C	exonic	EPS15L1	.	nonsynonymous SNV	EPS15L1:NM_001258374:exon21:c.A2207G:p.N736S,EPS15L1:NM_001258375:exon21:c.A2207G:p.N736S,EPS15L1:NM_021235:exon21:c.A2207G:p.N736S	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.00160816475039	.	0.000399361	0.0004	0	0	0.0001	0	0	0	0.0025	0.0002911	45	154602	rs543902952	0.0002	0.0002	8.304e-05	0.0003	0.0026	0.0002	0.0001	0.0023	0.0022	2.987e-05	0	0	0	0	0	1.529e-05	0.0001	0.0026	4.596e-05	4.593e-05	2.57e-05	6.713e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	1.0	0.00964	T	0.713	0.05844	T	0.0	0.02946	B	0.0	0.01387	B	0.003220	0.35270	N	0.320762	0.999999	0.08975	N	0	0.06538	N	2.22	0.26152	T	0.36	0.04776	N	0.098	0.17966	-0.9969	0.30783	T	0.013	0.05129	T	10	0.004414052	0.00090	T	0.001608	0.02600	T	0.111	0.31313	0.085	0.00830	0.259504319725	0.25562	0.11816267794620886	0.11743	0.0693580137507	0.07766	0.284633606672	0.08147	T	0.022939	0.17597	T	-0.717174	0.00029	T	-0.80725	0.01728	T	0.00686235944338551	0.00078	T	0.764224	0.41328	T	0.015146753	0.00124	0.032448545	0.01983	0.015146753	0.00124	0.032448545	0.01983	-2.289	0.11000	T	.	.	0.044	0.00117	B	.;.;.;.	.;.;.;.	-0.929929	0.00877	0.031	0.40331123559575172	0.02839	0.00579	0.02613	N	AEFBI	0.022344	0.01105	N	-1.84173763007349	0.00451	0.01939486	-1.82297358337625	0.00688	0.03064776	0.999999076348582	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	-10.8	0.00171	-1.624000	0.02141	-3.571000	0.02687	-1.086000	0.01550	0.000000	0.06391	0.000000	0.08366	0.973000	0.55318	0.0:0.8424:0.0781:0.0795	16.935	0.86070	976	0.04745	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1630.44	33	chr19	16385169	.	T	C	1630.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.88;DP=326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=-0.161;SOR=0.706	GT:AD:DP:GQ:PL	0/1:75,71:146:99:1641,0,1669	6	0	1	0
chr19	16744600	16744600	-	G	exonic	NWD1	.	frameshift insertion	NWD1:NM_001007525:exon5:c.379dupG:p.E128Gfs*4	.	416	1095	10	1	0	12	0.00544959	.	.	.	2811782	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0047	0	0.0108	0.0051	0	0.0003	0.0145	0.0069	0.0004463	69	154602	rs535227776	0.0009	0.0008	0.0006	0.0011	0.0074	0.0008	0.0008	0.0069	0.0067	6.332e-05	0.0006	0	0	0	0.0033	0.0005	0.0008	0.0074	0.0006	0.0006	0.0005	0.0008	0.0089	0.0005	0.0005	0.0068	0.0061	4.813e-05	0	0.0004	0	0	0	0	0.0006	0.0014	0.0089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004494	0.000000	0.000000	0.004386	0.000000	0.000000	0.005747	0.011111	0.07143	1520.41	38	chr19	16744600	.	T	TG	1520.41	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.536;DP=311;ExcessHet=0;FS=4.089;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=0.372;SOR=1.215	GT:AD:DP:GQ:PL	0/1:40,56:96:99:1531,0,1017	6	0	1	0
chr19	16862969	16862969	A	G	exonic	SIN3B	.	nonsynonymous SNV	SIN3B:NM_015260:exon10:c.A1352G:p.Y451C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00756506363979	.	.	8.24e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs750321022	2.737e-06	2.736e-06	0	5.501e-06	1.159e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	8.995e-07	3.313e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.21385	T	0.088	0.40586	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.88	0.46028	T	-0.32	0.12283	N	0.224	0.25130	-1.0409	0.17041	T	0.045	0.19518	T	9	0.0700717	0.10143	T	0.007565	0.20060	T	0.027	0.05988	0.459	0.52590	0.138757226776	0.13463	0.4162367326755498	0.41539	1.12423409236	0.78393	0.496134519577	0.38290	T	0.08134	0.36573	T	-0.318412	0.07028	T	-0.598299	0.12953	T	0.0109651611718591	0.00158	T	0.588241	0.21547	T	0.12635878	0.29597	0.058122743	0.10685	0.12635878	0.29597	0.058122743	0.10684	-0.97	0.00967	T	.	.	0.102	0.17995	B	.	.	0.160575	0.05513	1.975	0.60292759538197105	0.06428	0.01339	0.04606	N	AEFDBI	0.021102	0.00905	N	-1.37102532316781	0.02913	0.1293472	-1.43317642225258	0.02926	0.1355279	0.952550838932039	0.28023	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.636168	0.56350	0	.	.	1.5	-0.654	0.10868	0.117000	0.15414	-1.669000	0.04949	-0.562000	0.04833	0.029000	0.20367	0.000000	0.08366	0.000000	0.00833	0.5679:0.0:0.4321:0.0	4.201	0.09924	970	0.06235	Histone deacetylase interacting domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	973.63	33	chr19	16862969	.	A	G	973.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.381;DP=251;ExcessHet=0;FS=2.058;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=-0.742;SOR=1.026	GT:AD:DP:GQ:PL	0/1:29,40:69:99:984,0,699	6	0	1	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	323.08	30	chr19	17286692	.	T	*	323.08	.	AC=10;AF=0.833;AN=12;BaseQRankSum=1.07;DP=273;ExcessHet=0;FS=2.13;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=1.77;ReadPosRankSum=0;SOR=1.506	GT:AD:DP:GQ:PL	1/0:2,32:39:37:1617,78,37	0	4	2	1
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	964.56	55	chr19	21383393	.	G	*	964.56	.	AC=5;AF=0.357;AN=14;DP=319;ExcessHet=0.0509;FS=4.711;MLEAC=5;MLEAF=0.357;MQ=60;QD=4;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,26:72:99:.:.:946,0,1814:.	3	1	3	0
chr19	23146170	23146170	G	A	exonic	ZNF730	.	nonsynonymous SNV	ZNF730:NM_001277403:exon4:c.G1126A:p.A376T	.	437	1083	2	0	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.000686370402962	.	.	1.892e-05	0	0	0	0	3.461e-05	0	0	1.29e-05	2	154602	rs767593585	1.236e-05	1.231e-05	1.366e-05	1.105e-05	0.0005	7.73e-06	6.38e-06	0.0001	7.583e-05	0	6.82e-05	0	0	0	0.0005	9.018e-06	3.325e-05	0	2.63e-05	2.626e-05	5.147e-05	0	0.0002	8.15e-06	5.14e-06	.	.	0	0	0	0	0	0	0.0069	1.471e-05	0	0.0002	.	.	.	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.58	0.15352	N	1.27	0.36146	T	.	.	.	0.035	0.01004	-1.0278	0.21168	T	0.056	0.23527	T	6	0.038039505	0.02195	T	6.86E-4	0.00400	T	.	.	.	.	0.0551355673512	0.04727	0.004433680942703325	0.00417	0.0545909350713	0.06044	0.291648238897	0.09162	T	0.063486	0.32189	T	-0.486374	0.00680	T	-0.737425	0.04000	T	0.0394669703331219	0.03594	T	0.039696	0.00274	T	0.07233329	0.16083	0.105167314	0.25275	0.07233329	0.16082	0.105167314	0.25274	-6.233	0.48189	T	.	.	0.096	0.15475	B	.	.	-0.072036	0.03811	0.810	0.88051802433803961	0.17680	0.00368	0.01876	N	AEFBHCI	0.025303	0.01711	N	-1.31019338897254	0.03558	0.1591341	-1.53049424331613	0.02113	0.09670465	1.2346284982333E-5	0.02871	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	0.876	-1.75	0.07598	-2.241000	0.01279	.	.	-0.696000	0.04083	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1908:0.0:0.5703:0.2389	3.163	0.06137	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	902.49	40	chr19	23146170	.	G	A	902.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.325;DP=274;ExcessHet=0;FS=3.209;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-1.354;SOR=1.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,33:70:99:0|1:23146138_G_A:913,0,991:23146138	6	0	1	0
chr19	29213036	29213036	G	A	exonic	UQCRFS1	.	nonsynonymous SNV	UQCRFS1:NM_006003:exon1:c.C83T:p.P28L	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.742542390417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.785e-07	2.736e-06	0	1.588e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.875e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	0.77	0.43887	P	0.34	0.42389	B	0.001572	0.38612	N	0.260619	0.999997	0.58761	D	1.935	0.51832	L	0.31	0.58613	T	-3.86	0.72471	D	0.289	0.32701	-0.6481	0.62797	T	0.188	0.53930	T	10	0.52915907	0.63084	D	0.742542	0.97939	D	0.220	0.51569	0.597	0.72739	0.446847512676	0.44307	0.6039704013097025	0.60328	1.81185159454	0.91812	0.799962222576	0.81957	T	0.411462	0.76590	T	-0.0140345	0.49700	T	-0.257936	0.49030	T	0.985832214355469	0.76713	D	0.720328	0.33319	T	0.43345115	0.62978	0.5042543	0.71344	0.43345115	0.62978	0.5042543	0.71345	-5.828	0.44818	T	.	.	0.185	0.40081	B	.	.	4.211244	0.63621	24.6	0.99203816685662538	0.55351	0.88852	0.48983	D	AEFGBHCI	0.654494	0.62716	D	0.129003172920935	0.47819	3.002399	0.127535329363022	0.45963	2.850272	0.999999999999997	0.74766	0.733237	0.96898	0	0.600757	0.49542	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	3.88	3.88	0.43959	4.141000	0.57803	8.754000	0.78223	0.448000	0.21234	1.000000	0.71638	1.000000	0.68203	0.453000	0.27962	0.0:0.0:1.0:0.0	14.553	0.67671	986	0.02773	Ubiquinol-cytochrome c reductase 8kDa, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	136.83	17	chr19	29213036	.	G	A	136.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.54;DP=121;ExcessHet=0;FS=1.957;MLEAC=1;MLEAF=0.071;MQ=53.08;MQRankSum=-0.685;QD=8.05;ReadPosRankSum=0.801;SOR=0.283	GT:AD:DP:GQ:PL	0/1:9,8:17:99:147,0,221	6	0	1	0
chr19	32915374	32915374	C	T	exonic	CEP89	.	nonsynonymous SNV	CEP89:NM_032816:exon14:c.G1528A:p.V510M	.	.	.	.	.	.	.	.	.	.	.	3846014	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.257	0.0304065436556	.	.	8.238e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs778868993	1.234e-05	1.231e-05	9.547e-06	1.516e-05	0.0007	7.71e-06	6.36e-06	0.0002	0.0001	6.011e-05	0	0	0	0	0.0007	6.3e-06	3.317e-05	3.525e-05	6.578e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.577	0.06049	T	0.158	0.31629	T	0.006	0.13644	B	0.011	0.15521	B	0.638806	0.05855	N	1.138180	1	0.08975	N	-0.295	0.03650	N	-2.29	0.87591	D	-0.3	0.11913	N	0.078	0.05287	-0.7848	0.56031	T	0.301	0.67251	T	10	0.025174588	0.00719	T	0.030407	0.52725	D	0.257	0.56827	0.088	0.00943	0.139678290688	0.13603	0.04053571472343645	0.03999	0.10221570197	0.11571	0.269534349442	0.06081	T	0.00226	0.01662	T	-0.301458	0.08523	T	-0.567856	0.15647	T	0.0216368679555334	0.00868	T	0.611839	0.23263	T	0.018807106	0.00404	0.047232952	0.06758	0.018807106	0.00403	0.047232952	0.06758	-5.87	0.45178	T	.	.	0.070	0.03336	B	.	.	-1.059619	0.00690	0.020	0.35481840134624903	0.02229	0.00565	0.02569	N	AEFDBI	0.020201	0.00774	N	-2.0398116802589	0.00173	0.007430887	-2.09116690175106	0.00195	0.008573012	0.999813584886714	0.43459	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.6	-9.97	0.00363	-1.466000	0.02461	-7.473000	0.01149	-1.007000	0.01781	0.000000	0.06391	0.000000	0.08366	0.029000	0.12982	0.0:0.5988:0.2691:0.1321	14.805	0.69572	354	0.85282	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	802.49	38	chr19	32915374	.	C	T	802.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.856;DP=298;ExcessHet=0;FS=3.564;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.92;ReadPosRankSum=0.764;SOR=0.437	GT:AD:DP:GQ:PL	0/1:74,42:116:99:813,0,1768	6	0	1	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.25	769.34	158	chr19	32999679	.	G	A	769.34	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.574;DP=1011;ExcessHet=1.383;FS=2.539;MLEAC=3;MLEAF=0.25;MQ=54.18;MQRankSum=-3.924;QD=1.68;ReadPosRankSum=1.92;SOR=0.584	GT:AD:DP:GQ:PL	0/1:129,36:165:99:380,0,3118	3	0	3	1
chr19	33094237	33094237	G	T	exonic	GPATCH1	.	nonsynonymous SNV	GPATCH1:NM_018025:exon5:c.G521T:p.R174L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539	0.0400329129033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.375e-06	2.052e-06	0	2.761e-06	1.809e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.809e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.185	0.88900	M	1.5	0.31205	T	-6.3	0.90771	D	0.841	0.83678	-0.7672	0.57011	T	0.208	0.56758	T	10	0.8391466	0.83068	D	0.040033	0.59150	D	0.539	0.80723	0.371	0.38176	0.615755702487	0.61265	0.8581399606969168	0.85776	0.642122485459	0.57789	0.731068849564	0.71662	T	0.151856	0.49198	T	0.202687	0.74142	D	0.0533697	0.73805	D	0.997791647911072	0.92438	D	0.954705	0.82752	D	0.75036377	0.80889	0.7126963	0.83048	0.75036377	0.80891	0.7126963	0.83049	-15.354	0.96627	D	.	.	0.788	0.76714	P	.	.	5.581296	0.92305	32	0.99861411522197319	0.94002	0.99110	0.91373	D	AEFBI	0.858012	0.77546	D	0.830471393102821	0.87968	9.405967	0.810619727389434	0.90523	10.44583	0.999999999993599	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	8.431000	0.90152	8.540000	0.77489	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.315	0.90157	671	0.60868	G-patch domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	699.53	28	chr19	33094237	.	G	T	699.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.473;DP=220;ExcessHet=0;FS=0.923;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.835;SOR=0.653	GT:AD:DP:GQ:PL	0/1:34,33:67:99:710,0,748	6	0	1	0
chr19	35060670	35060670	G	A	exonic	HPN	.	nonsynonymous SNV	HPN:NM_001375441:exon9:c.G664A:p.V222M,HPN:NM_001384133:exon9:c.G664A:p.V222M,HPN:NM_182983:exon9:c.G664A:p.V222M,HPN:NM_002151:exon10:c.G664A:p.V222M	.	.	.	.	.	.	.	.	.	.	.	3263539	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.533	0.251046148716	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs141619716	8.551e-05	8.551e-05	0.0001	7.013e-05	0.0001	7.312e-05	6.816e-05	8.763e-05	8.211e-05	5.974e-05	0	0	0	0	0	0.0001	0.0001	1.159e-05	5.255e-05	5.253e-05	5.136e-05	5.378e-05	0.0001	2.556e-05	1.829e-05	4.764e-05	3.338e-05	2.411e-05	0	0	0	0	0	0	0.0001	0	0	0.002	0.72154	D	0.006	0.70582	D	0.997	0.70673	D	0.809	0.58564	P	0.000071	0.52346	D	0.128037	0.998416	0.81001	D	1.07	0.27075	L	-2.5	0.89363	D	-1.9	0.44284	N	0.438	0.47765	0.544	0.91157	D	0.715	0.90207	D	10	0.5687434	0.65198	D	0.251046	0.89116	D	0.533	0.80367	0.6	0.73105	0.671196538207	0.66841	0.6345075049796749	0.63384	1.15372453973	0.79304	0.720341682434	0.70096	T	0.572973	0.85892	D	0.0266502	0.55277	T	-0.0918382	0.64024	T	0.700815320014954	0.40757	D	0.89551	0.67067	D	0.41751188	0.61926	0.28276265	0.54265	0.41751188	0.61926	0.28276265	0.54264	-9.434	0.70448	D	.	.	0.304	0.53316	B	.;.;.	.;.;.	5.181616	0.86881	29.1	0.99886905545240634	0.96204	0.62344	0.31753	D	AEFBCI	0.861310	0.77935	D	0.452027269148236	0.64316	4.683618	0.431447791497915	0.63533	4.589066	0.0217540831200535	0.13375	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.87	4.87	0.62877	3.536000	0.53338	11.740000	0.95175	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.712000	0.34516	0.0:0.0:1.0:0.0	15.54	0.75773	900	0.24599	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1092.45	36	chr19	35060670	.	G	A	1092.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.643;DP=304;ExcessHet=0;FS=7.686;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=1.06;SOR=0.517	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1103,0,1497	6	0	1	0
chr19	36720585	36720585	G	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.G1768C:p.E590Q,ZNF567:NM_001322912:exon5:c.G1768C:p.E590Q,ZNF567:NM_152603:exon5:c.G1768C:p.E590Q,ZNF567:NM_001300979:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322913:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322914:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322916:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322917:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322919:exon6:c.G1861C:p.E621Q,ZNF567:NM_001322915:exon7:c.G1861C:p.E621Q,ZNF567:NM_001322918:exon7:c.G1861C:p.E621Q,ZNF567:NM_001322920:exon7:c.G1861C:p.E621Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00252678817879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.016	0.60972	D	0.054	0.22658	B	0.024	0.20255	B	0.000405	0.44736	D	0.000000	1	0.23725	N	0.555	0.15161	N	3.16	0.18414	T	-1.81	0.43334	N	0.105	0.08925	-1.0625	0.11142	T	0.036	0.15334	T	10	0.175197	0.32439	T	0.002527	0.05065	T	0.083	0.24192	0.523	0.62668	0.279370189704	0.27548	0.08649725833851973	0.08583	0.277099322987	0.30180	0.337151706219	0.16012	T	0.045736	0.27211	T	-0.229616	0.16700	T	-0.567604	0.15671	T	0.569444715976715	0.35214	D	0.150285	0.01611	T	0.26107454	0.49165	0.16180101	0.37617	0.26107454	0.49165	0.16180101	0.37616	-6.667	0.51561	T	.	.	0.180	0.42244	B	.;.;.	.;.;.	2.627555	0.34156	19.55	0.97472896362628203	0.34147	0.00043	0.00351	N	AEFDGBHCI	0.071367	0.14206	N	-0.329039622307207	0.28049	1.543943	-0.194272004171784	0.31747	1.799533	0.862295282701992	0.25249	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.12	5.12	0.69459	-0.312000	0.08153	.	.	0.520000	0.23804	0.000000	0.06391	0.400000	0.24706	0.978000	0.57271	0.0:0.0:1.0:0.0	16.437	0.83718	604	0.67577	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	938.63	37	chr19	36720585	.	G	C	938.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.535;DP=272;ExcessHet=0;FS=3.159;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.53;SOR=1.179	GT:AD:DP:GQ:PL	0/1:36,38:74:99:949,0,851	6	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1280.76	60	chr19	37887093	.	A	G	1280.76	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.3;DP=548;ExcessHet=2.5225;FS=213.033;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=3.38;ReadPosRankSum=1.25;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,16:106:99:0|1:37887093_A_G:109,0,3483:37887093	3	0	4	0
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	1980.43	59	chr19	37887095	.	C	T	1980.43	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-3.501;DP=540;ExcessHet=4.7409;FS=289.526;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.2;ReadPosRankSum=0.856;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,17:107:99:0|1:37887093_A_G:145,0,3480:37887093	1	0	5	1
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1734.39	47	chr19	37887096	.	A	G	1734.39	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-3.754;DP=528;ExcessHet=2.5225;FS=289.601;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=4.26;ReadPosRankSum=1.08;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,17:106:99:0|1:37887093_A_G:148,0,3445:37887093	2	0	4	1
chr19	38192248	38192248	G	A	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon17:c.G4534A:p.D1512N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	0.030957590412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.061	0.92824	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	2.51	0.73131	M	1.2	0.37405	T	-2.87	0.60348	D	0.621	0.63628	-0.7950	0.55438	T	0.184	0.53225	T	10	0.43320912	0.57626	T	0.030958	0.53153	D	0.275	0.59130	0.346	0.34112	0.518490484181	0.51493	0.3230071047796424	0.32213	0.646601930215	0.58067	0.846655488014	0.89108	D	0.090931	0.47131	T	-0.099797	0.36457	T	-0.381128	0.35591	T	0.959940061713101	0.65668	D	0.935806	0.76258	D	0.4991163	0.67043	0.3790424	0.62968	0.4991163	0.67044	0.3790424	0.62968	-9.088	0.68261	D	.	.	0.664	0.79584	P	.;.	.;.	5.237421	0.87926	29.4	0.99928508644616665	0.99222	0.98431	0.82706	D	AEFBI	0.839354	0.75677	D	0.721555937434072	0.81047	7.431305	0.725643128013083	0.84326	8.260822	0.999999997229875	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.373000	0.90023	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	17.488	0.87587	628	0.65206	Signal-induced proliferation-associated 1-like protein, C-terminal;Signal-induced proliferation-associated 1-like protein, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	2498.24	34	chr19	38192248	.	G	A	2498.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.23;DP=383;ExcessHet=0.3476;FS=1.612;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.824;SOR=0.651	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1357,0,1192	5	0	2	0
chr19	38738310	38738310	C	T	exonic	CAPN12	.	nonsynonymous SNV	CAPN12:NM_144691:exon8:c.G928A:p.D310N	.	431	1090	1	0	0	1	0.000458505	.	.	.	2682173	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.266	0.0728987443023	0.0003	.	0.0001	0.0002	0	0	0	0.0002	0.0012	0	0.0001164	18	154602	rs139134484	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	2.236e-05	0.0003	2.519e-05	0	0.0002	0.0002	0.0003	2.321e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.665e-05	7.257e-05	7.908e-05	5.993e-05	0.0001	0	6.544e-05	0.0009	0.0002	0	0	0.0001	0	0	0.1	0.30515	T	0.233	0.28210	T	0.658	0.40863	P	0.086	0.29521	B	0.121843	0.18979	N	0.376195	0.997316	0.43790	D	0.655	0.16177	N	-2.33	0.87910	D	-2.0	0.46146	N	0.226	0.25377	-0.2050	0.77541	T	0.400	0.75152	T	10	0.1909213	0.34755	T	0.072899	0.71652	D	0.266	0.57999	.	.	0.788040571525	0.78607	0.19557793905617682	0.19474	0.144431503328	0.16320	0.512565732002	0.40581	T	0.084179	0.37221	T	-0.331536	0.05997	T	-0.444705	0.28282	T	0.0364370383322239	0.03056	T	0.565243	0.19970	T	0.15741715	0.35472	0.11239048	0.27117	0.15741715	0.35471	0.11239048	0.27116	-4.636	0.32621	T	.	.	0.083	0.10352	B	.;.	.;.	3.419375	0.47472	22.5	0.99691778743890402	0.79977	0.62066	0.31670	D	AEFDBHCI	0.434076	0.49528	N	-0.191093188888891	0.33505	1.90155	-0.125671313574414	0.34359	1.975483	0.999999999999722	0.74766	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.584449	0.35598	0	.	.	4.89	4.89	0.63387	2.048000	0.40903	4.766000	0.44744	0.587000	0.30956	0.461000	0.26652	1.000000	0.68203	0.027000	0.12703	0.0:1.0:0.0:0.0	15.903	0.79182	675	0.60470	Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain|Peptidase C2, calpain, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1161.49	37	chr19	38738310	.	C	T	1161.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.826;DP=315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.61;ReadPosRankSum=-2.073;SOR=0.627	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1172,0,1139	6	0	1	0
chr19	38815889	38815889	C	T	exonic	ECH1	.	nonsynonymous SNV	ECH1:NM_001398:exon9:c.G850A:p.D284N	.	426	1062	32	2	0	36	0.0166667	.	.	.	549788	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.184	.	0.0007	0.0439297	0.0217	0.0015	0.0138	0.1011	0.0108	0.0010	0.0111	0.0872	0.0196634	3040	154602	rs58750431	0.0088	0.0088	0.0069	0.0108	0.0926	0.0087	0.0087	0.0902	0.0891	0.0005	0.0126	0.0042	0.0926	0.0111	0.0066	0.0003	0.0128	0.0790	0.0086	0.0086	0.0065	0.0109	0.1036	0.0082	0.0081	0.0963	0.0934	0.0008	0	0.0086	0.0026	0.1036	0.0105	0	0.0006	0.0080	0.0901	0.052	0.39097	T	0.043	0.49942	D	0.58	0.38813	P	0.232	0.38314	B	0.000557	0.43413	N	0.224693	0.995888	0.42905	D	1.96	0.53105	M	-0.34	0.68474	T	-3.92	0.73151	D	0.127	0.12055	-1.0969	0.04487	T	0.016	0.06425	T	10	0.003258437	0.00056	T	.	.	.	0.184	0.45763	.	.	.	.	0.5948108593860878	0.59411	0.210675352167	0.23564	.	.	.	0.126685	0.45322	T	-0.608825	0.00129	T	-0.560458	0.16333	T	0.0442205592395221	0.04461	T	.	.	.	0.0875064	0.20380	0.08958698	0.20957	0.0875064	0.20379	0.08958698	0.20957	-7.382	0.56778	T	.	.	0.113	0.22464	B	.	.	1.427526	0.18454	13.74	0.99155882767163839	0.53959	0.76974	0.37797	D	AEFDBHCI	0.564811	0.57144	D	-0.363951650050263	0.26763	1.463097	-0.386532372428914	0.25398	1.396471	0.934234573778894	0.27162	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	1.52	0.22158	2.858000	0.48055	-0.124000	0.11690	-0.260000	0.06918	0.990000	0.36992	0.000000	0.08366	0.009000	0.08673	0.0:0.7388:0.0:0.2612	8.821	0.34186	583	0.69484	.	.	.	.	.	rs58750431	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.012588	0.000000	0.006793	0.005848	0.000000	0.000000	0.003049	0.030303	0.1429	2223.26	35	chr19	38815889	.	C	T	2223.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.42;DP=404;ExcessHet=0.3476;FS=3.985;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.08;SOR=0.979	GT:AD:DP:GQ:PL	0/1:75,46:121:99:1098,0,1787	5	0	2	0
chr19	38893508	38893508	T	A	exonic	SIRT2	.	nonsynonymous SNV	SIRT2:NM_001193286:exon3:c.A21T:p.L7F,SIRT2:NM_030593:exon3:c.A21T:p.L7F,SIRT2:NM_012237:exon4:c.A132T:p.L44F	.	419	1089	12	2	0	16	0.00729262	.	.	.	704969	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0110	0.0107827	0.0077	0.0190	0.0032	0.0020	0.0007	0.0086	0.0071	0.0060	0.0075031	1160	154602	rs45535036	0.0078	0.0079	0.0079	0.0077	0.0173	0.0077	0.0077	0.0162	0.0157	0.0173	0.0036	0	0.0018	0.0015	0.0040	0.0086	0.0078	0.0056	0.0096	0.0096	0.0101	0.0091	0.0170	0.0092	0.0090	0.0160	0.0156	0.0170	0	0.0053	0	0.0031	0.0013	0.0034	0.0088	0.0085	0.0054	0.627	0.06502	T	0.589	0.08245	T	0.001	0.07471	B	0.005	0.16862	B	0.628531	0.10709	N	0.826605	0.998119	0.44524	D	0.2	0.09183	N	1.21	0.48769	T	0.57	0.11547	N	0.276	0.31253	-1.0503	0.14313	T	0.030	0.12804	T	10	0.0036471784	0.00067	T	.	.	.	0.161	0.41658	0.391	0.41443	0.139678290688	0.13603	0.40462940314711654	0.40378	0.23887650308	0.26443	0.387695014477	0.23345	T	0.11804	0.43856	T	-0.456061	0.01039	T	-0.413597	0.31810	T	0.00402687135974191	0.00043	T	.	.	.	0.15268978	0.34649	0.09309037	0.21972	0.15268978	0.34648	0.09309037	0.21971	-7.759	0.59416	D	.	.	0.106	0.19478	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.275245	0.29088	18.01	0.9688391060178797	0.31469	0.47111	0.27910	N	AEDBI	0.089627	0.18167	N	-0.900700129620411	0.10825	0.5192742	-0.781154816376222	0.14957	0.7842521	0.997731569887215	0.35965	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.26	0.518	0.16228	-0.022000	0.12424	0.904000	0.22573	-0.132000	0.13132	0.956000	0.33378	1.000000	0.68203	0.949000	0.49496	0.0:0.1369:0.5514:0.3117	8.856	0.34386	645	0.63593	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006042	0.010101	0.006793	0.000000	0.000000	0.017241	0.003049	0.007576	0.1429	763.29	33	chr19	38893508	.	T	A	763.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.28;DP=202;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.77;SOR=0.762	GT:AD:DP:GQ:PL	0/1:26,15:41:99:360,0,666	5	0	2	0
chr19	39502998	39502998	-	GCGGT	exonic	DLL3	.	frameshift insertion	DLL3:NM_016941:exon4:c.593_594insGCGGT:p.P202Afs*41,DLL3:NM_203486:exon4:c.593_594insGCGGT:p.P202Afs*41	Spondylocostal dysostosis 1, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	21867	Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia%3B|not_provided|Spondylocostal_dysostosis_1,_autosomal_recessive	MONDO:MONDO:0014766,MedGen:C4225213,OMIM:616763|MedGen:C3661900|MONDO:MONDO:0020692,MedGen:CN032975,OMIM:277300,Orphanet:2311	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	.	0.0005	0	0	3.84e-05	1	26028	rs1442149017	8.477e-05	8.277e-05	7.84e-05	9.132e-05	0.0003	7.164e-05	6.728e-05	0.0002	0.0001	0.0003	0.0002	8.498e-05	3.344e-05	0	0	8.035e-05	9.014e-05	6.783e-05	6.578e-05	7.223e-05	3.856e-05	9.432e-05	0.0004	3.52e-05	2.619e-05	7.279e-05	3.025e-05	7.241e-05	0	6.547e-05	0	0	0	0	4.417e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	819.35	9	chr19	39502998	.	C	CGCGGT	819.35	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.21;DP=141;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=19.51;ReadPosRankSum=0.495;SOR=0.693	GT:AD:DP:GQ:PL	0/1:8,12:20:99:471,0,300	5	0	2	0
chr19	40846030	40846030	A	G	exonic	CYP2A6	.	nonsynonymous SNV	CYP2A6:NM_000762:exon6:c.T899C:p.I300T	Coumarin resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3239629	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.133	0.0303691343264	7.7e-05	0.000199681	0.0002	0	0.0002	0.0001	0	0.0003	0.0011	0.0002	0.0002458	38	154602	rs148693084	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0004	0.0001	0.0002	0	0.0003	1.874e-05	0.0002	0.0004	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0003	0.0002	9.721e-05	0	0.0005	0	0	0	0	0.0004	0.0005	0.0008	0.102	0.30235	T	0.125	0.35330	T	.	.	.	.	.	.	0.129615	0.18688	U	0.542019	0.987188	0.24543	N	.	.	.	-0.38	0.69027	T	-1.12	0.28906	N	0.228	0.25622	-0.8777	0.49943	T	0.195	0.54956	T	10	0.07926196	0.12729	T	0.030369	0.52693	D	0.133	0.36157	.	.	0.648220878664	0.64530	0.2522421240906263	0.25138	0.248346388218	0.27397	0.529774308205	0.43003	T	.	.	.	-0.330295	0.06089	T	-0.388279	0.34754	T	0.00675995647907257	0.00076	T	0.764224	0.39120	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	0.46893	B	.	.	2.296588	0.29380	18.10	0.88023895089501025	0.17659	0.28636	0.23608	N	AEFDBI	0.291890	0.40290	N	-0.742528645064168	0.14837	0.7425201	-0.750083870261629	0.15720	0.8281814	0.00332187610044662	0.10056	0.490419	0.18000	1	0.59043	0.45803	0	0.667716	0.60424	0	0.530356	0.10902	0	.	.	2.44	2.44	0.28875	0.471000	0.21811	.	.	0.496000	0.22519	0.000000	0.06391	0.555000	0.25489	0.003000	0.05239	1.0:0.0:0.0:0.0	9.821	0.40051	521	0.74284	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	4066.24	33	chr19	40846030	.	A	G	4066.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.33;DP=510;ExcessHet=0.3476;FS=3.392;MLEAC=2;MLEAF=0.143;MQ=59.99;MQRankSum=0;QD=11.45;ReadPosRankSum=0.699;SOR=0.562	GT:AD:DP:GQ:PL	0/1:88,77:165:99:1863,0,2088	5	0	2	0
chr19	41715105	41715105	G	A	exonic	CEACAM5	.	nonsynonymous SNV	CEACAM5:NM_001291484:exon3:c.G559A:p.V187I,CEACAM5:NM_001308398:exon3:c.G559A:p.V187I,CEACAM5:NM_004363:exon3:c.G559A:p.V187I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00193257350078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	3.826e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.19782	T	0.434	0.18903	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.04	0.03121	T	-0.46	0.14978	N	0.127	0.13626	-1.0047	0.28547	T	0.020	0.08220	T	9	0.17976257	0.33127	T	0.001933	0.03430	T	0.060	0.17295	0.39	0.41279	0.48461828368	0.48093	0.0486047421989362	0.04803	0.433725140529	0.43520	0.365836381912	0.20233	T	0.007736	0.07126	T	-0.354259	0.04465	T	-0.746645	0.03618	T	0.322085946798325	0.25907	T	0.0751925	0.00760	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.11893	B	.;.;.;.;.	.;.;.;.;.	0.262412	0.06410	2.876	0.98734914312658328	0.45408	0.02193	0.06408	N	AEFBI	0.045653	0.07490	N	-0.555203434777982	0.20321	1.07036	-0.699277418910056	0.16978	0.9007058	4.11150784611805E-4	0.06899	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	2.94	2.94	0.33188	0.940000	0.28589	-1.930000	0.04479	0.498000	0.22619	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.0:0.0:1.0:0.0	9.655	0.39085	840	0.37365	.;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	3100.44	47	chr19	41715105	.	G	A	3100.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.433;DP=554;ExcessHet=0;FS=4.209;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.428;SOR=0.865	GT:AD:DP:GQ:PL	0/1:197,143:340:99:3111,0,4697	6	0	1	0
chr19	42095395	42095395	A	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.T1022C:p.I341T,POU2F2:NM_001207026:exon11:c.T1022C:p.I341T,POU2F2:NM_001247994:exon11:c.T974C:p.I325T,POU2F2:NM_002698:exon11:c.T974C:p.I325T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.931	0.491804921791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.977	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.825	0.47900	L	-4.25	0.97054	D	-4.24	0.76015	D	0.845	0.86297	1.045	0.98021	D	0.926	0.97544	D	10	0.92589384	0.91938	D	0.491805	0.95011	D	0.931	0.98378	0.762	0.89053	0.979705899228	0.97949	0.9814169942772814	0.98133	2.91012196725	0.99100	0.8950933218	0.95878	D	0.808246	0.99683	D	0.525352	0.95038	D	0.516856	0.94964	D	0.994730926619758	0.86208	D	0.952605	0.82322	D	0.7007408	0.78097	0.57755935	0.75522	0.7007408	0.78099	0.57755935	0.75523	-12.58	0.87561	D	.	.	0.997	0.97319	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.697003	0.75326	26.3	0.99835600142926961	0.91714	0.97930	0.78210	D	AEFBI	0.935600	0.93069	D	0.708200846287782	0.80171	7.235341	0.648994966838081	0.78535	6.895993	0.99999985343175	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	9.263000	0.94779	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	12.324	0.54323	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	116.63	43	chr19	42095395	.	A	G	116.63	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.091;DP=314;ExcessHet=0.3476;FS=68.826;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.348;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,14:85:99:.:.:108,0,2453:.	5	0	2	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L,POU2F2:NM_001207026:exon11:c.G1018C:p.V340L,POU2F2:NM_001247994:exon11:c.G970C:p.V324L,POU2F2:NM_002698:exon11:c.G970C:p.V324L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	187.63	45	chr19	42095399	.	C	G	187.63	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.118;DP=360;ExcessHet=1.383;FS=105.92;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.184;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,7:82:77:.:.:77,0,2460:.	3	0	3	1
chr19	42313393	42313393	C	T	exonic	TMEM145	.	nonsynonymous SNV	TMEM145:NM_001366910:exon1:c.C17T:p.A6V,TMEM145:NM_173633:exon1:c.C17T:p.A6V	.	353	1167	1	1	0	3	0.0012837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	.	.	.	0.0076	0	0	0	.	0.0268	0	0.0026	8.41e-05	13	154602	rs755813257	0.0003	0.0003	0.0002	0.0003	0.0059	0.0002	0.0002	0.0039	0.0032	0.0002	0.0003	0.0024	0	6.126e-05	0.0059	0.0002	0.0004	0.0004	0.0003	0.0003	0.0002	0.0004	0.0008	0.0002	0.0002	0.0005	0.0004	4.814e-05	0	0.0008	0.0032	0	0	0.0137	0.0003	0.0009	0	0.0	0.91255	D	0.332	0.34716	T	0.959	0.55135	D	0.499	0.47621	P	0.201597	0.16586	U	0.447699	0.960148	0.26158	N	1.1	0.28011	L	0.79	0.51474	T	-0.17	0.09627	N	0.043	0.03726	-1.0589	0.12032	T	0.075	0.30117	T	10	0.0053667426	0.00118	T	.	.	.	0.083	0.24192	0.203	0.11797	0.528461186488	0.52492	0.5753231793253366	0.57461	0.472231572563	0.46459	0.819665670395	0.84977	D	0.008876	0.08119	T	-0.397767	0.02395	T	-0.442699	0.28506	T	0.0864389800400294	0.10790	T	0.671933	0.28057	T	0.12830727	0.30001	0.13745068	0.32854	0.12830727	0.30001	0.13745068	0.32853	-5.342	0.40357	T	.	.	0.183	0.39630	B	.;.	.;.	2.005171	0.25481	16.78	0.99318561823613349	0.59279	0.03269	0.08306	N	ALL	0.091806	0.18592	N	-0.177761224857866	0.34061	1.939714	-0.207888318049893	0.31252	1.76689	0.999999999989693	0.74766	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	2.57	2.57	0.29928	-0.183000	0.09707	0.208000	0.15929	-0.360000	0.05510	0.009000	0.18154	0.961000	0.29326	0.924000	0.46004	0.0:1.0:0.0:0.0	8.818	0.34168	571	0.70397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.015278	0.007042	0.028986	0.035294	0.000000	0.000000	0.000000	0.000000	0.07143	259.83	11	chr19	42313393	.	C	T	259.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.489;DP=147;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=0;SOR=0.646	GT:AD:DP:GQ:PL	0/1:9,13:22:99:270,0,188	6	0	1	0
chr19	44150416	44150416	A	G	exonic	ZNF234	.	nonsynonymous SNV	ZNF234:NM_001144824:exon5:c.A146G:p.H49R,ZNF234:NM_006630:exon5:c.A146G:p.H49R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00074996768875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.356	0.17166	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.62	0.15745	N	5.7	0.00742	T	-3.14	0.64019	D	0.088	0.06587	-0.9476	0.41380	T	0.002	0.00707	T	9	0.06643152	0.09110	T	7.5E-4	0.00529	T	0.033	0.08068	0.511	0.60846	0.218845423259	0.21516	0.02149669496549984	0.02102	0.12384389064	0.13943	0.287970453501	0.08627	T	0.010394	0.09394	T	-0.280572	0.10607	T	-0.640799	0.09611	T	0.0571324487561985	0.06710	T	0.19898	0.02226	T	0.084027074	0.19431	0.07805651	0.17447	0.084027074	0.19431	0.07805651	0.17447	-6.527	0.50494	T	.	.	0.079	0.07365	B	.;.	.;.	0.159614	0.05504	1.968	0.46786576766484816	0.03774	0.00344	0.01781	N	AEFBI	0.020088	0.00759	N	-1.20384141173803	0.04943	0.2242263	-1.31497810107259	0.04236	0.1993813	0.0026453067207074	0.09600	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	2.24	-4.48	0.03267	-0.582000	0.05907	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.778000	0.36829	0.4025:0.0:0.431:0.1665	4.094	0.09456	804	0.43891	Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	34.27	20	chr19	44150416	.	A	G	34.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.338;DP=209;ExcessHet=0;FS=20.681;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=0.486;SOR=4.426	GT:AD:DP:GQ:PL	0/1:40,10:50:44:44,0,736	5	0	1	1
chr19	45702991	45702991	C	T	exonic	QPCTL	.	nonsynonymous SNV	QPCTL:NM_001163377:exon6:c.C809T:p.T270M,QPCTL:NM_017659:exon7:c.C1091T:p.T364M	.	435	1074	13	0	0	13	0.00601573	.	.	.	2808918	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.509	.	0.0042	0.00319489	0.0048	0.0008	0.0027	0	0.0076	0.0060	0.0066	0.0051	0.0046571	720	154602	rs117220573	0.0055	0.0055	0.0054	0.0055	0.0127	0.0054	0.0053	0.0103	0.0095	0.0008	0.0032	0.0155	5.038e-05	0.0071	0.0127	0.0055	0.0055	0.0058	0.0048	0.0048	0.0048	0.0049	0.0063	0.0046	0.0044	0.0058	0.0056	0.0010	0.0011	0.0054	0.0196	0.0002	0.0075	0.0136	0.0063	0.0038	0.0046	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.18	0.88827	M	0.6	0.53731	T	-5.95	0.89152	D	0.769	0.77507	0.132	0.84734	D	0.407	0.75656	T	10	0.020620137	0.00478	T	.	.	.	0.509	0.78910	.	.	0.843917050134	0.84241	0.7657557228356774	0.76524	1.01633845458	0.74964	0.474044382572	0.35237	T	0.181289	0.53291	T	-0.0776471	0.40096	T	0.120114	0.78244	D	0.0534965583521286	0.06103	T	0.933407	0.77799	D	0.89458495	0.90904	0.7659443	0.86175	0.89458495	0.90905	0.7659443	0.86176	-9.812	0.76990	D	.	.	0.287	0.52993	B	.;.	.;.	4.919810	0.81018	27.5	0.99905262144289264	0.97576	0.98475	0.83169	D	AEFBI	0.868689	0.78891	D	0.902401251443892	0.91877	11.11199	0.776634405796864	0.88125	9.466701	0.999999999999899	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.71	5.71	0.89031	7.628000	0.82379	7.557000	0.60396	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.064000	0.16252	0.0:1.0:0.0:0.0	17.361	0.87240	895	0.25842	Peptidase M28|M28 Zn-Peptidase Glutaminyl Cyclase;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.015152	0.006793	0.023392	0.000000	0.025862	0.003049	0.003788	0.07143	2924.44	33	chr19	45702991	.	C	T	2924.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.31;DP=522;ExcessHet=0;FS=0.945;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-1.423;SOR=0.673	GT:AD:DP:GQ:PL	0/1:140,122:262:99:2935,0,3145	6	0	1	0
chr19	45872735	45872735	G	A	exonic	FOXA3	.	nonsynonymous SNV	FOXA3:NM_004497:exon2:c.G730A:p.A244T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0748425375525	.	.	1.231e-05	0	0	0	0	2.31e-05	0	0	6.5e-06	1	154602	rs775453392	1.311e-05	1.573e-05	9.6e-06	1.666e-05	2.297e-05	8.38e-06	6.76e-06	1.016e-05	8.39e-06	0	2.297e-05	0	0	0	0	1.626e-05	0	0	1.316e-05	1.314e-05	1.287e-05	1.347e-05	2.418e-05	2.19e-06	8.2e-07	.	.	2.418e-05	0	0	0	0	0	0	1.471e-05	0	0	0.258	0.16683	T	0.439	0.13365	T	0.001	0.07471	B	0.0	0.01387	B	0.682958	0.06101	N	1.202840	1	0.08975	N	0.805	0.20218	L	-2.86	0.91421	D	-0.78	0.21644	N	0.042	0.01498	-0.6740	0.61647	T	0.452	0.78556	T	10	0.081870764	0.13451	T	0.074843	0.72141	D	0.157	0.40909	0.27	0.21893	0.741026045076	0.73870	0.43965145732109917	0.43882	0.1720101165	0.19372	0.424312144518	0.28430	T	0.254056	0.62466	T	-0.1682	0.25508	T	-0.479384	0.24512	T	0.0203221564468554	0.00732	T	0.260474	0.04175	T	0.038449317	0.05124	0.050453324	0.07922	0.038449317	0.05124	0.050453324	0.07921	-3.388	0.14896	T	.	.	0.065	0.01884	B	.	.	-0.138433	0.03420	0.622	0.86697375368261453	0.16711	0.08619	0.14523	N	AEFDBCI	.	.	.	-1.37200344672284	0.02903	0.1288984	-1.40692906030382	0.03182	0.1479193	0.989017573195167	0.31697	0.460665	0.09802	0	0.59043	0.45803	0	0.575934	0.27490	0	0.542086	0.14980	0	.	.	3.31	-0.315	0.12114	-0.271000	0.08603	0.515000	0.19114	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2781:0.3989:0.323:0.0	3.822	0.08353	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	824.27	32	chr19	45872735	.	G	A	824.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.255;DP=216;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-0.285;SOR=0.818	GT:AD:DP:GQ:PL	0/1:16,32:48:99:834,0,380	5	0	1	1
chr19	48360128	48360128	C	A	exonic	TMEM143	.	nonsynonymous SNV	TMEM143:NM_001303539:exon3:c.G313T:p.A105S,TMEM143:NM_018273:exon3:c.G313T:p.A105S	.	426	1092	4	0	0	4	0.00182815	.	.	.	2287601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00846746230279	0.0005	.	0.0005	9.626e-05	0.0007	0	0.0003	0.0007	0.0011	0.0004	0.0004075	63	154602	rs143735444	0.0004	0.0004	0.0003	0.0004	0.0014	0.0004	0.0003	0.0007	0.0005	0.0002	0.0006	0.0065	0	0.0004	0.0014	0.0002	0.0008	0.0006	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	2.413e-05	0	0.0002	0.0075	0	0.0008	0	0.0004	0.0010	0.0002	0.429	0.09572	T	0.817	0.03863	T	0.012	0.16265	B	0.004	0.10090	B	0.317215	0.14332	N	0.628659	0.999844	0.29134	N	1.43	0.35840	L	0.92	0.44856	T	-0.5	0.15782	N	0.197	0.21710	-1.0618	0.11312	T	0.094	0.35738	T	10	0.0057735145	0.00129	T	0.008467	0.22407	T	0.040	0.10527	.	.	0.165133752707	0.16062	0.36666098106557127	0.36580	0.215895403464	0.24118	0.326263427734	0.14370	T	0.013089	0.20164	T	-0.465419	0.00909	T	-0.563588	0.16040	T	0.01774394325912	0.00504	T	0.59994	0.23656	T	0.027854983	0.02037	0.037503187	0.03416	0.027854983	0.02036	0.037503187	0.03416	-3.113	0.11446	T	.	.	0.082	0.17911	B	.;.;.	.;.;.	0.821092	0.11921	8.485	0.99220687843107636	0.55901	0.10195	0.15768	N	AEFI	0.072989	0.14584	N	-0.511233488591844	0.21715	1.154523	-0.49510902290157	0.22288	1.209831	0.239326282176968	0.18553	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.74	1.12	0.19700	0.562000	0.23235	0.104000	0.14688	-0.313000	0.06017	0.394000	0.26121	0.003000	0.18671	0.711000	0.34484	0.2088:0.5474:0.0:0.2439	3.046	0.05782	952	0.10565	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003024	0.005051	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.08333	936.27	34	chr19	48360128	.	C	A	936.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.405;DP=254;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.708;SOR=0.761	GT:AD:DP:GQ:PL	0/1:32,38:70:99:946,0,811	5	0	1	1
chr19	48971014	48971014	G	A	exonic	GYS1	.	nonsynonymous SNV	GYS1:NM_001161587:exon12:c.C1367T:p.T456M,GYS1:NM_002103:exon13:c.C1559T:p.T520M	Glycogen storage disease 0, muscle, Autosomal recessive	0	1515	6	1	0	8	0.00263331	.	.	.	1013820	Glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency|Inborn_genetic_diseases	MONDO:MONDO:0012693,MedGen:C1969054,OMIM:611556,Orphanet:137625|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.723	0.0701344524882	.	.	4.121e-05	9.623e-05	0	0	0	4.497e-05	0	6.056e-05	3.23e-05	5	154602	rs747911098	4.314e-05	4.788e-05	4.907e-05	3.716e-05	0.0005	3.446e-05	3.132e-05	0.0001	7.546e-05	5.98e-05	2.236e-05	0	0	0	0.0005	4.412e-05	9.942e-05	2.32e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.414e-05	5.24e-06	2.45e-06	.	.	2.414e-05	0	0	0	0	0	0	1.47e-05	0.0005	0	0.017	0.91255	D	0.03	0.54159	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.595	0.75868	M	-0.35	0.68616	T	-4.5	0.79143	D	0.876	0.87808	0.098	0.84136	D	0.520	0.82086	D	10	0.8944361	0.88794	D	0.070134	0.70920	D	0.723	0.90235	0.769	0.89609	0.888212881463	0.88710	0.8020781757940303	0.80161	1.31590279658	0.83328	0.912264168262	0.97680	D	0.81263	0.95333	D	0.248356	0.78447	D	0.300497	0.88219	D	0.826490879058838	0.48260	D	0.986301	0.95349	D	0.38088638	0.59380	0.31052956	0.57063	0.38088638	0.59381	0.31052956	0.57063	-8.739	0.66001	D	0.5105288604686391	0.58434	0.759	0.78358	P	.;.	.;.	5.569122	0.92204	32	0.99918968616714032	0.98586	0.98092	0.79530	D	ALL	0.953129	0.96916	D	0.925026867894932	0.92931	11.71597	0.884286552231018	0.94850	13.09536	1.0	0.98316	0.675202	0.55065	0	0.67197	0.64623	0	0.779548	0.98927	0	0.636	0.56748	0	.	.	5.34	5.34	0.75982	9.571000	0.97334	11.489000	0.92919	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.920	0.86029	705	0.57330	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.08333	663.27	35	chr19	48971014	.	G	A	663.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.292;DP=240;ExcessHet=0;FS=1.99;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-0.494;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,32:69:99:673,0,814	5	0	1	1
chr19	49035894	49035894	C	T	exonic	CGB1	.	nonsynonymous SNV	CGB1:NM_001382421:exon3:c.G148A:p.V50M,CGB1:NM_033377:exon3:c.G184A:p.V62M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.299529620539	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.721e-06	4.811e-06	4.841e-06	6.624e-06	0.0008	2.38e-06	1.53e-06	0.0002	0.0001	0	0	0	0	0	0.0008	2.112e-06	0	2.827e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.06	0.45744	T	1.0	0.90584	D	0.991	0.79672	D	0.000728	0.42129	D	0.000000	0.99663	0.43321	D	.	.	.	-2.93	0.91800	D	-2.49	0.54217	N	0.554	0.57946	0.757	0.93883	D	0.836	0.94510	D	9	0.7732707	0.77254	D	0.29953	0.90835	D	0.530	0.80188	0.659	0.79689	0.809706314812	0.80792	0.17742884485836258	0.17661	2.39889414524	0.97143	0.815648317337	0.84360	D	.	.	.	0.128789	0.67242	D	-0.0527806	0.66832	D	0.887084782123566	0.53755	D	0.879912	0.59649	D	.	.	.	.	.	.	.	.	-6.335	0.48999	T	.	.	0.564	0.67361	A	.;.	.;.	4.202118	0.63414	24.6	0.99326135727349241	0.59584	0.83201	0.42338	D	AEFI	0.189817	0.31706	N	-0.00110962223768837	0.41805	2.507153	-0.210714969076238	0.31150	1.760218	5.4014842695761E-4	0.07248	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.79	1.79	0.23992	5.245000	0.65227	3.343000	0.37723	0.304000	0.19002	0.999000	0.42656	0.998000	0.33993	0.010000	0.09038	0.0:1.0:0.0:0.0	9.617	0.38865	774	0.48577	.;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	47.11	2	chr19	49035894	.	C	T	47.11	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.674;DP=18;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=28.24;MQRankSum=0.674;QD=11.78;ReadPosRankSum=0.674;SOR=0.105	GT:AD:DP:GQ:PL	0/1:2,2:4:43:56,0,43	5	0	1	1
chr19	49061735	49061735	G	A	exonic	NTF4	.	nonsynonymous SNV	NTF4:NM_006179:exon2:c.C263T:p.A88V	Glaucoma 1, open angle, 1O	1	1467	51	3	0	57	0.0190572	.	.	.	29056	not_provided|Glaucoma_1,_open_angle,_O|Intellectual_disability,_X-linked_99	MedGen:C3661900|MONDO:MONDO:0013134,MedGen:C2751294,OMIM:613100|MONDO:MONDO:0010487,MedGen:C3806746,OMIM:300919,Orphanet:777	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.334	.	0.0023	0.00579073	0.0059	0.0006	0.0021	0.0002	0	0.0041	0.0142	0.0215	0.0043143	667	154602	rs61732310	0.0034	0.0034	0.0029	0.0039	0.0178	0.0033	0.0033	0.0171	0.0168	0.0005	0.0017	0.0063	2.527e-05	0.0005	0.0163	0.0026	0.0040	0.0178	0.0025	0.0025	0.0024	0.0026	0.0189	0.0023	0.0022	0.0157	0.0146	0.0004	0.0121	0.0018	0.0055	0	0.0008	0.0136	0.0030	0.0038	0.0189	.	.	.	0.483	0.11795	T	0.999	0.77913	D	0.6	0.50752	P	0.130810	0.18645	N	0.405273	5.87488e-05	0.19238	A	-0.695	0.01866	N	-0.17	0.65563	T	.	.	.	0.324	0.36464	-0.9848	0.33879	T	0.090	0.34546	T	10	0.02159813	0.00520	T	.	.	.	.	.	.	.	0.779305911428	0.77726	0.24109617930085175	0.24023	.	.	0.545061886311	0.45161	T	0.224577	0.58905	T	-0.256087	0.13362	T	-0.126348	0.61278	T	0.0296463213828842	0.01935	T	0.638636	0.26756	T	0.10771276	0.25470	0.13080947	0.31424	0.1209873	0.28458	0.14495279	0.34394	-4.236	0.27270	T	0.10855820618084228	0.08962	0.118	0.25560	B	.;.	.;.	3.977641	0.58453	24.0	0.99798950836418121	0.88372	0.21620	0.21466	N	AEFDBHCI	0.117629	0.23034	N	-0.199531165461691	0.33154	1.877763	-0.223450324804954	0.30696	1.730661	0.999623941382992	0.41093	0.646311	0.45356	0	0.578056	0.33634	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	3.54	3.54	0.39650	1.654000	0.36950	6.452000	0.55675	0.614000	0.49286	0.954000	0.33273	1.000000	0.68203	0.757000	0.36037	0.0:0.0:1.0:0.0	11.307	0.48576	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011616	0.000000	0.017663	0.008772	0.050000	0.017241	0.018293	0.011364	0.07143	1338.53	37	chr19	49061735	.	G	A	1338.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.956;DP=278;ExcessHet=0;FS=0.752;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.39;ReadPosRankSum=0.264;SOR=0.802	GT:AD:DP:GQ:PL	0/1:44,56:100:99:1349,0,1020	6	0	1	0
chr19	49154453	49154453	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.784_785insATGATG:p.D261_V262insDD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00698882	0.0056	0.0050	0.0009	0.0076	0.0002	0.0036	0.0050	0.0191	0.0001537	4	26028	rs541138770	0.0052	0.0052	0.0048	0.0057	0.0221	0.0051	0.0051	0.0212	0.0209	0.0056	0.0021	0.0085	0.0090	0.0005	0.0114	0.0040	0.0060	0.0221	0.0055	0.0056	0.0053	0.0057	0.0254	0.0052	0.0051	0.0214	0.0199	0.0060	0.0132	0.0026	0.0096	0.0105	0.0006	0	0.0047	0.0074	0.0254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7554.63	34	chr19	49154453	.	A	ACATCAT	7554.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.025;DP=442;ExcessHet=0.0509;FS=3.734;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=31.48;ReadPosRankSum=0.503;SOR=0.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,22:45:99:.:.:827,0,890:.	6	0	1	0
chr19	49667113	49667113	C	T	exonic	BCL2L12	.	nonsynonymous SNV	BCL2L12:NM_001040668:exon3:c.C451T:p.P151S,BCL2L12:NM_001282516:exon3:c.C454T:p.P152S,BCL2L12:NM_001282519:exon3:c.C454T:p.P152S,BCL2L12:NM_001282520:exon3:c.C454T:p.P152S,BCL2L12:NM_001282521:exon3:c.C454T:p.P152S,BCL2L12:NM_001385706:exon3:c.C199T:p.P67S,BCL2L12:NM_138639:exon3:c.C202T:p.P68S	.	424	1087	10	1	0	12	0.00548948	.	.	.	3547036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00682884141679	0.0034	0.00179712	0.0031	0.0006	0.0019	0	0.0053	0.0044	0.0044	0.0008	0.0029495	456	154602	rs149021967	0.0035	0.0035	0.0034	0.0035	0.0052	0.0034	0.0034	0.0037	0.0036	0.0006	0.0026	0.0048	0	0.0060	0.0052	0.0037	0.0036	0.0010	0.0030	0.0030	0.0032	0.0028	0.0047	0.0028	0.0027	0.0043	0.0041	0.0006	0	0.0022	0.0055	0	0.0052	0	0.0047	0.0014	0.0008	0.47	0.24090	T	0.262	0.30339	T	0.026	0.19406	B	0.013	0.16460	B	0.171382	0.17364	N	0.425066	1	0.81001	D	0.255	0.09829	N	1.06	0.55266	T	-2.3	0.52289	N	0.163	0.30118	-1.0256	0.21886	T	0.029	0.12453	T	10	0.0061015785	0.00137	T	0.006829	0.18065	T	0.036	0.09122	.	.	0.381409048467	0.37754	0.2565701123438237	0.25571	0.230311216582	0.25578	0.423245966434	0.28284	T	0.035946	0.23916	T	-0.547874	0.00300	T	-0.556174	0.16739	T	0.00771702741160948	0.00090	T	0.829117	0.49388	T	0.04186527	0.06245	0.04754095	0.06869	0.04186527	0.06244	0.04754095	0.06869	-4.418	0.29800	T	.	.	0.074	0.20508	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.812605	0.23033	15.86	0.95804144498423005	0.27865	0.31051	0.24239	N	AEFGBI	0.192858	0.32000	N	-0.738663509015104	0.14943	0.7487579	-0.601159908185538	0.19463	1.044349	0.999852803573285	0.44174	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.651492	0.60203	0	.	.	3.53	0.229	0.14639	0.472000	0.21827	1.297000	0.25449	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	0.883000	0.42306	0.0:0.6167:0.0:0.3833	5.464	0.15927	809	0.43032	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.010101	0.002717	0.002924	0.000000	0.000000	0.012195	0.000000	0.07143	475.46	31	chr19	49667113	.	C	T	475.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.062;DP=215;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=-2.026;SOR=0.666	GT:AD:DP:GQ:PL	0/1:29,22:51:99:486,0,675	6	0	1	0
chr19	49889981	49889981	C	T	exonic	IL4I1	.	nonsynonymous SNV	IL4I1:NM_001385639:exon8:c.G1282A:p.E428K,IL4I1:NM_152899:exon8:c.G1393A:p.E465K,IL4I1:NM_001258017:exon10:c.G1459A:p.E487K,IL4I1:NM_001258018:exon10:c.G1459A:p.E487K,IL4I1:NM_172374:exon10:c.G1459A:p.E487K	.	429	1091	2	0	0	2	0.000915751	.	.	.	2295794	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.194	0.0902633784849	.	.	0.0004	0	0.0007	0	0	0.0008	0	0	0.0002717	42	154602	rs541635369	0.0005	0.0005	0.0005	0.0004	0.0009	0.0004	0.0004	0.0005	0.0005	6.213e-05	0.0001	0.0008	0	0.0001	0.0009	0.0005	0.0003	0	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	0	0	0.0006	0	0	0	0.0006	0.0009	0.0002	0.405	0.22746	T	0.36	0.16964	T	0.05	0.22331	B	0.005	0.11217	B	0.237424	0.03559	N	1.607040	1	0.08975	N	1.61	0.41143	L	-3.03	0.92307	D	-0.88	0.23808	N	0.073	0.04790	-0.5235	0.67785	T	0.518	0.81966	D	10	0.028167963	0.00952	T	0.090263	0.75484	D	0.194	0.47447	.	.	0.462461958149	0.45873	0.8822674465442181	0.88194	1.16445027033	0.79578	0.378076732159	0.21982	T	0.491899	0.81608	T	-0.337852	0.05539	T	-0.356635	0.38443	T	0.0147849254961072	0.00310	T	0.69993	0.30971	T	0.12821737	0.29981	0.060128633	0.11399	0.12821737	0.29981	0.060128633	0.11398	-4.403	0.29961	T	.	.	0.080	0.16099	B	.;.;.	.;.;.	0.975362	0.13528	10.05	0.96524863973306152	0.30129	0.64407	0.32397	D	AEFDGBHCI	0.225864	0.34989	N	-1.04854299251634	0.07617	0.3544078	-1.08349512610685	0.08025	0.3928071	0.999999999973639	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.503968	0.08637	0	0.683535	0.66460	0	.	.	5.26	-1.29	0.08805	-0.249000	0.08861	0.156000	0.15349	-0.222000	0.07959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1418:0.4734:0.1381:0.2467	1.693	0.02683	633	0.64743	Amine oxidase;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003067	0.000000	0.004098	0.000000	0.000000	0.000000	0.003145	0.003817	0.07143	727.63	35	chr19	49889981	.	C	T	727.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.173;DP=222;ExcessHet=0;FS=0.988;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-0.69;SOR=0.772	GT:AD:DP:GQ:PL	0/1:29,30:59:99:738,0,768	6	0	1	0
chr19	50045210	50045210	C	T	exonic	ZNF473	.	nonsynonymous SNV	ZNF473:NM_001308424:exon4:c.C731T:p.P244L,ZNF473:NM_001006656:exon5:c.C767T:p.P256L,ZNF473:NM_015428:exon5:c.C767T:p.P256L	.	420	1098	4	0	0	4	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00599445959906	0.0036	0.00119808	0.0032	0.0005	0.0014	0	0.0030	0.0044	0.0022	0.0028	0.0033764	522	154602	rs76128611	0.0048	0.0048	0.0048	0.0047	0.0055	0.0047	0.0046	0.0054	0.0054	0.0006	0.0013	0.0008	0	0.0027	0.0010	0.0055	0.0050	0.0028	0.0029	0.0030	0.0030	0.0029	0.0051	0.0027	0.0026	0.0047	0.0045	0.0009	0	0.0017	0.0014	0	0.0015	0	0.0051	0.0028	0.0015	0.44	0.09430	T	0.041	0.50514	D	0.032	0.20242	B	0.003	0.08700	B	0.600963	0.10959	N	0.770342	1	0.08975	N	-0.92	0.01311	N	2.61	0.13095	T	-4.06	0.74582	D	0.08	0.06990	-0.9571	0.39717	T	0.010	0.03765	T	10	0.006416291	0.00145	T	0.005994	0.15638	T	0.074	0.21613	.	.	0.102598925029	0.09809	0.07900394272979305	0.07835	0.914013942472	0.71174	0.218978345394	0.01252	T	0.023376	0.17856	T	-0.677101	0.00050	T	-0.743881	0.03729	T	0.0340517524969155	0.02646	T	0.237876	0.03380	T	0.022176385	0.00863	0.05592265	0.09900	0.022176385	0.00862	0.05592265	0.09899	-2.582	0.06367	T	.	.	0.239	0.59148	B	.;.;.;.	.;.;.;.	0.302726	0.06781	3.302	0.98583546482496942	0.43271	0.00209	0.01192	N	AEFBHCI	0.078360	0.15808	N	-1.16109953529274	0.05600	0.2556936	-1.14493885573124	0.06859	0.33162	0.00184335288188605	0.08939	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.06	0.657	0.17021	0.137000	0.15816	-0.156000	0.11370	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.2152:0.3853:0.1568:0.2427	0.628	0.00739	735	0.53711	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.008621	0.003049	0.003788	0.07143	1650.45	40	chr19	50045210	.	C	T	1650.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.42;DP=315;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.219;SOR=0.69	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1661,0,1723	6	0	1	0
chr19	50724569	50724569	G	A	exonic	CLEC11A	.	nonsynonymous SNV	CLEC11A:NM_002975:exon3:c.G494A:p.G165D	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	.	.	0.0007	0	0.0189	0	0	0.0009	0	0	0.0002264	35	154602	rs752036565	0.0003	0.0003	0.0003	0.0003	0.0081	0.0003	0.0003	0.0060	0.0052	0.0012	0.0022	0.0014	0	0	0.0081	0.0002	0.0009	0.0001	0.0007	0.0007	0.0005	0.0008	0.0041	0.0006	0.0005	0.0033	0.0030	0.0003	0	0.0041	0.0017	0	0	0	0.0003	0.0009	0	0.459	0.08762	T	0.7	0.10536	T	0.0	0.02946	B	0.0	0.01387	B	0.337424	0.04167	N	1.446790	1	0.08975	N	0.695	0.17993	N	1.24	0.42888	T	-0.17	0.09627	N	0.098	0.25989	-1.0502	0.14341	T	0.030	0.12804	T	10	0.0052238405	0.00114	T	.	.	.	0.079	0.23065	.	.	0.473222633396	0.46952	0.409477757479579	0.40863	0.498799417979	0.48346	0.762063264847	0.76237	T	0.055193	0.29938	T	-0.603516	0.00139	T	-0.644301	0.09359	T	0.00879235073027028	0.00108	T	0.444656	0.12411	T	0.07983951	0.18262	0.07213673	0.15528	0.07983951	0.18262	0.07213673	0.15528	-4.838	0.35031	T	.	.	0.092	0.44002	B	.;.;.	.;.;.	2.369017	0.30397	18.42	0.95022440354921212	0.26008	0.45993	0.27661	N	ALL	0.109129	0.21686	N	-1.07089144495808	0.07184	0.3329639	-0.976821421889916	0.10307	0.5182752	0.999999999999444	0.74766	0.437478	0.07067	0	0.606814	0.50340	0	0.503968	0.08637	0	0.372554	0.06265	0	.	.	4.53	-3.57	0.04316	0.361000	0.20003	1.539000	0.27214	-0.106000	0.15538	0.659000	0.28251	0.992000	0.31684	0.811000	0.38219	0.2675:0.2607:0.2059:0.266	0.159	0.00094	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.006276	0.000000	0.008333	0.006061	0.050000	0.008929	0.000000	0.000000	0.08333	467.27	28	chr19	50724569	.	G	A	467.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.77;DP=215;ExcessHet=0;FS=4.076;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.21;SOR=0.463	GT:AD:DP:GQ:PL	0/1:29,21:50:99:477,0,776	5	0	1	1
chr19	51746559	51746559	T	C	exonic	FPR1	.	nonsynonymous SNV	FPR1:NM_002029:exon2:c.A436G:p.I146V,FPR1:NM_001193306:exon3:c.A436G:p.I146V	.	.	.	.	.	.	.	.	.	.	.	3171625	Gingival_disorder|not_specified	MONDO:MONDO:0002021,MedGen:C0017563|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.173	0.0106106838152	.	.	5.767e-05	0	0	0.0008	0	0	0	0	4.53e-05	7	154602	rs756459168	6.841e-06	6.84e-06	6.806e-06	6.875e-06	0.0003	3.46e-06	2.52e-06	0.0001	0.0001	0	0	0	0.0003	0	0	0	0	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	0.0004	2.19e-06	8.2e-07	6.813e-05	2.852e-05	0	0	0	0	0.0004	0	0	0	0	0	0.422	0.09776	T	1.0	0.01155	T	0.053	0.22573	B	0.085	0.29395	B	0.048202	0.23273	N	0.400535	0.994779	0.23445	N	1.475	0.37068	L	-0.84	0.74265	T	0.02	0.06739	N	0.018	0.00252	-0.9529	0.40468	T	0.172	0.51484	T	10	0.16599911	0.31012	T	0.010611	0.27345	T	0.173	0.43840	0.774	0.90002	0.587297536726	0.58404	0.38412873956227883	0.38327	0.273506257707	0.29848	0.317508012056	0.13043	T	0.050815	0.28703	T	-0.412801	0.01904	T	-0.44752	0.27971	T	0.0439304533764529	0.04408	T	0.647135	0.25820	T	0.056459147	0.11112	0.051312342	0.08232	0.056459147	0.11112	0.051312342	0.08232	-3.208	0.12579	T	.	.	0.108	0.22391	B	.;.;.	.;.;.	0.435442	0.08059	4.780	0.61810473001100164	0.06803	0.05502	0.11389	N	AEFBI	0.092246	0.18677	N	-0.82161736313395	0.12758	0.6239719	-0.765901362769023	0.15333	0.8058361	0.901431601168956	0.26101	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.66	2.63	0.30420	0.154000	0.16160	.	.	0.645000	0.52629	0.000000	0.06391	0.001000	0.17328	0.179000	0.21265	0.0:0.2545:0.0:0.7455	4.243	0.10112	970	0.06235	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	171.34	95	chr19	51746559	.	T	C	171.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-4.678;DP=911;ExcessHet=0.3476;FS=166.15;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=-0.185;SOR=8.595	GT:AD:DP:GQ:PL	0/1:130,34:164:55:55,0,3081	5	0	2	0
chr19	53449528	53449528	G	A	exonic	ZNF761;ZNF765-ZNF761	.	nonsynonymous SNV	ZNF761:NM_001289953:exon3:c.G32A:p.R11K,ZNF761:NM_001289951:exon4:c.G32A:p.R11K,ZNF761:NM_001289952:exon4:c.G32A:p.R11K,ZNF761:NM_001008401:exon5:c.G32A:p.R11K,ZNF765-ZNF761:NM_001350496:exon12:c.G32A:p.R11K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	0.21880	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.20129	.	.	.	.	.	.	.	0.10384759	0.19112	T	.	.	.	.	.	.	.	0.251639045875	0.24756	0.057570622064893356	0.05698	.	.	0.384643673897	0.22913	T	0.037191	0.24383	T	-0.0553257	0.43633	T	-0.317248	0.42876	T	.	.	.	0.0226477	0.00250	T	0.038366	0.05099	0.106463574	0.25612	0.038366	0.05098	0.106463574	0.25611	-6.82	0.52708	T	.	.	0.076	0.24599	B	.;.;.;.	.;.;.;.	0.673263	0.10417	7.139	0.90371335229837357	0.19634	0.00866	0.03436	N	AEFBI	.	.	.	.	.	.	.	.	.	1.09274493557264E-5	0.01202	0.322412	0.05557	0	0.30413	0.05452	0	0.331037	0.05861	0	0.221052	0.04502	0	0.117024	0.24315	1.37	-1.41	0.08473	0.491000	0.22128	.	.	0.342000	0.19800	0.062000	0.21832	0.000000	0.08366	0.195000	0.21750	0.4735:0.0:0.251:0.2756	1.778	0.02843	994	0.00715	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	3438.24	33	chr19	53449528	.	G	A	3438.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.88;DP=530;ExcessHet=0.3476;FS=1.262;MLEAC=2;MLEAF=0.143;MQ=47.11;MQRankSum=0.287;QD=9.29;ReadPosRankSum=2.68;SOR=0.625	GT:AD:DP:GQ:PL	0/1:137,63:200:99:1374,0,3552	5	0	2	0
chr19	54463420	54463420	G	C	exonic	LENG9	.	nonsynonymous SNV	LENG9:NM_001301782:exon1:c.C107G:p.A36G,LENG9:NM_198988:exon1:c.C173G:p.A58G	.	433	1075	12	1	1	15	0.0064695	.	.	.	3280247	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.461683328005	.	0.000998403	0	0	.	.	.	0	.	0	0.0018442	48	26028	rs538247982	0.0050	0.0040	0.0050	0.0050	0.0106	0.0049	0.0049	0.0077	0.0067	0.0013	0.0042	0.0024	0	0.0005	0.0106	0.0055	0.0043	0.0006	0.0037	0.0037	0.0039	0.0036	0.0061	0.0035	0.0034	0.0056	0.0054	0.0009	0.0548	0.0029	0.0029	0	0.0005	0	0.0061	0.0043	0.0006	.	.	.	0.089	0.40426	T	.	.	.	.	.	.	0.185733	0.16981	U	0.564061	0.989986	0.24229	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	-0.9986	0.30311	T	0.120	0.41929	T	10	0.008697927	0.00197	T	0.461683	0.94524	D	.	.	.	.	0.167679373172	0.16340	0.1811322340724422	0.18032	.	.	0.851212024689	0.89797	D	0.029042	0.20900	T	-0.370331	0.03577	T	-0.303088	0.44399	T	0.267812894860974	0.23653	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.33800	B	.	.	3.541679	0.49744	22.8	0.99355955129707074	0.60779	0.07946	0.13931	N	ALL	0.090040	0.18248	N	-0.022166659393205	0.40853	2.433358	-0.16036681333199	0.33011	1.883923	0.999999995535946	0.74766	0.024636	0.00146	3	0.166054	0.03914	2	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.26	0.93	0.18581	0.524000	0.22648	.	.	0.547000	0.25779	0.077000	0.22263	1.000000	0.68203	0.265000	0.23644	0.1194:0.0:0.4885:0.3922	4.31	0.10408	982	0.03397	Zinc finger, CCCH-type|Zinc finger, CCCH-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004405	0.000000	0.009259	0.010638	0.000000	0.000000	0.000000	0.000000	0.07143	131.54	9	chr19	54463420	.	G	C	131.54	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.586;DP=112;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.87;ReadPosRankSum=0.526;SOR=0.735	GT:AD:DP:GQ:PL	0/1:20,7:27:99:142,0,601	6	0	1	0
chr19	54667735	54667735	G	A	exonic	LILRB4	.	nonsynonymous SNV	LILRB4:NM_001278429:exon10:c.G1232A:p.G411E,LILRB4:NM_001278426:exon11:c.G1142A:p.G381E,LILRB4:NM_001278427:exon11:c.G1139A:p.G380E,LILRB4:NM_001278428:exon11:c.G1142A:p.G381E	.	42	1368	112	0	0	112	0.0393258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00938498	0.0029	0.0131	0.0016	0.0003	0.0008	0.0027	0	0.0008	0.0018057	47	26028	rs143761941	0.0002	0.0077	0.0002	0.0002	0.0019	0.0002	0.0002	0.0015	0.0014	0.0019	6.756e-05	3.887e-05	0	0.0019	0.0005	7.91e-05	6.767e-05	9.397e-05	0.0011	0.0063	0.0009	0.0013	0.0023	0.0009	0.0009	0.0019	0.0018	0.0023	0	0.0007	0.0006	0	0.0008	0	0.0006	0.0020	0.0006	0.817	0.08534	T	0.485	0.14284	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	7.22	0.00450	T	-1.14	0.33197	N	0.082	0.06587	-1.0309	0.20163	T	0.001	0.00222	T	9	0.0048834085	0.00104	T	.	.	.	0.017	0.02790	.	.	0.0611884634855	0.05136	0.025520150562575675	0.02503	0.0146181732997	0.01385	0.27307882905	0.06546	T	0.024122	0.18284	T	-0.312001	0.07572	T	-0.685945	0.06627	T	0.00416992427023374	0.00044	T	0.40156	0.13085	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.02548	B	.;.;.;.	.;.;.;.	-1.426860	0.00341	0.006	0.34032084928210377	0.02060	0.00201	0.01154	N	AEFBI	0.057374	0.10682	N	-1.73416465629474	0.00727	0.0314143	-1.78646037534142	0.00803	0.03586342	6.83957052779704E-4	0.07622	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.36	-2.07	0.06873	-2.169000	0.01355	.	.	-2.327000	0.00315	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2899:0.0:0.7101:0.0	7.181	0.24951	814	0.42100	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005637	0.025641	0.001370	0.000000	0.000000	0.008621	0.010135	0.012000	0.1429	335.29	52	chr19	54667735	.	G	A	335.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.766;DP=421;ExcessHet=0.3476;FS=0.919;MLEAC=2;MLEAF=0.143;MQ=54.81;MQRankSum=-3.419;QD=2.04;ReadPosRankSum=0.579;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,9:91:99:0|1:54667733_T_C:120,0,3365:54667733	5	0	2	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4286	5690.48	294	chr19	54739533	.	C	A	5690.48	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.49;DP=1770;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=55.69;MQRankSum=1.86;QD=3.35;ReadPosRankSum=1.3;SOR=0.752	GT:AD:DP:GQ:PL	0/1:259,56:315:99:544,0,6794	1	0	6	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	7320.09	202	chr19	54752378	.	A	T	7320.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.423;DP=1708;ExcessHet=0.4813;FS=0;MLEAC=5;MLEAF=0.357;MQ=55.45;MQRankSum=-20.94;QD=5.89;ReadPosRankSum=1.67;SOR=0.675	GT:AD:DP:GQ:PL	0/1:383,89:472:99:958,0,10375	3	1	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	9562.09	240	chr19	54752434	.	G	C	9562.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.957;DP=1961;ExcessHet=0.4813;FS=8.564;MLEAC=5;MLEAF=0.357;MQ=56.48;MQRankSum=-23.55;QD=6.43;ReadPosRankSum=2.55;SOR=1.069	GT:AD:DP:GQ:PL	0/1:510,78:588:99:1744,0,13584	3	1	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	11422.1	250	chr19	54752445	.	C	T	11422.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.166;DP=2001;ExcessHet=0.4813;FS=10.314;MLEAC=5;MLEAF=0.357;MQ=56.74;MQRankSum=-23.95;QD=7.48;ReadPosRankSum=0.898;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:534,77:611:99:.:.:1626,0,21967:.	3	1	3	0
chr19	54752470	54752470	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C977T:p.P326L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.000532555396834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.057	0.46406	T	0.847	0.46818	P	0.443	0.45803	B	.	.	.	.	1	0.08975	N	3.15	0.88382	M	7.1	0.00445	T	-5.69	0.87300	D	0.099	0.08088	-0.9763	0.35838	T	0.005	0.01725	T	9	0.21145281	0.37573	T	5.33E-4	0.00185	T	0.042	0.11227	0.488	0.57257	0.399304321381	0.39546	0.08880542142491482	0.08813	0.48504829238	0.47404	.	.	.	0.032024	0.22303	T	-0.289619	0.09675	T	-0.653794	0.08690	T	0.91267067193985	0.56865	D	.	.	.	0.059323456	0.12043	0.1152076	0.27809	0.059323456	0.12043	0.1152076	0.27808	-4.415	0.29759	T	.	.	0.086	0.10835	B	.	.	1.731734	0.22039	15.46	0.97436821187828682	0.33956	0.00980	0.03737	N	AEFI	0.027292	0.02204	N	-0.318334734936963	0.28451	1.569419	-0.654174012092628	0.18111	0.966082	2.73389013816173E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	0.909	0.18460	-0.209000	0.09362	.	.	-0.426000	0.05215	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	5.189	0.14522	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	5850.44	242	chr19	54752470	.	C	T	5850.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.679;DP=1625;ExcessHet=0;FS=1.112;MLEAC=1;MLEAF=0.071;MQ=58.14;MQRankSum=7.63;QD=9.8;ReadPosRankSum=-0.958;SOR=0.717	GT:AD:DP:GQ:PL	0/1:341,256:597:99:5861,0,9403	6	0	1	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	5775.09	228	chr19	54752485	.	T	C	5775.09	.	AC=5;AF=0.357;AN=14;BaseQRankSum=7.34;DP=1552;ExcessHet=0.4813;FS=32.255;MLEAC=5;MLEAF=0.357;MQ=57.04;MQRankSum=-23.15;QD=4.11;ReadPosRankSum=-3.734;SOR=2.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:531,53:584:99:0|1:54752482_T_C:627,0,22033:54752482	3	1	3	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	3983.16	247	chr19	54760643	.	A	G	3983.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.095;DP=1331;ExcessHet=2.5225;FS=2.698;MLEAC=4;MLEAF=0.286;MQ=53.69;MQRankSum=-6.991;QD=3.24;ReadPosRankSum=-0.249;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,29:319:99:0|1:54760643_A_G:345,0,11885:54760643	3	0	4	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	4778.14	244	chr19	54760651	.	G	C	4778.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.015;DP=1348;ExcessHet=2.5225;FS=2.542;MLEAC=4;MLEAF=0.286;MQ=54.16;MQRankSum=-7.126;QD=3.82;ReadPosRankSum=-0.028;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:296,33:329:99:0|1:54760643_A_G:414,0,12058:54760643	3	0	4	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5513.14	244	chr19	54760665	.	T	C	5513.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.812;DP=1350;ExcessHet=2.5225;FS=0.726;MLEAC=4;MLEAF=0.286;MQ=54.82;MQRankSum=-7.67;QD=4.38;ReadPosRankSum=1.99;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:298,37:335:99:0|1:54760665_T_C:657,0,12235:54760665	3	0	4	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5599.14	246	chr19	54760676	.	T	A	5599.14	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.497;DP=1318;ExcessHet=2.5225;FS=0.718;MLEAC=4;MLEAF=0.286;MQ=55.59;MQRankSum=-8.13;QD=4.56;ReadPosRankSum=2.2;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,37:336:99:0|1:54760665_T_C:654,0,12444:54760665	3	0	4	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5802.16	226	chr19	54760692	.	A	G	5802.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.104;DP=1265;ExcessHet=2.5225;FS=1.486;MLEAC=4;MLEAF=0.286;MQ=56.08;MQRankSum=-8.859;QD=4.93;ReadPosRankSum=2.95;SOR=0.538	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,37:324:99:0|1:54760665_T_C:690,0,11929:54760665	3	0	4	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	5832.16	226	chr19	54760695	.	T	C	5832.16	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.886;DP=1269;ExcessHet=2.5225;FS=1.497;MLEAC=4;MLEAF=0.286;MQ=56.09;MQRankSum=-8.859;QD=5;ReadPosRankSum=2.92;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,37:318:99:0|1:54760665_T_C:708,0,11677:54760665	3	0	4	0
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H,KIR2DL1:NM_014218:exon3:c.G202C:p.D68H,KIR2DS1:NM_014512:exon3:c.G202C:p.D68H,KIR2DS5:NM_014513:exon3:c.G202C:p.D68H	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3166.72	462	chr19	54773464	.	G	C	3166.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.64;DP=2411;ExcessHet=1.1394;FS=6.511;MLEAC=3;MLEAF=0.214;MQ=57.6;MQRankSum=-8.104;QD=3.43;ReadPosRankSum=-1.185;SOR=1.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:592,92:684:99:0|1:54773456_T_C:2082,0,23782:54773456	4	0	3	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G,KIR2DL1:NM_014218:exon3:c.C248G:p.A83G,KIR2DS1:NM_014512:exon3:c.C248G:p.A83G,KIR2DS5:NM_014513:exon3:c.C248G:p.A83G	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	5555.72	453	chr19	54773510	.	C	G	5555.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.685;DP=2656;ExcessHet=1.1394;FS=3.317;MLEAC=3;MLEAF=0.214;MQ=57.62;MQRankSum=-11.98;QD=5.22;ReadPosRankSum=2.14;SOR=1.009	GT:AD:DP:GQ:PL	0/1:643,131:774:99:3320,0,17823	4	0	3	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	4725.13	187	chr19	54805033	.	C	T	4725.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.254;DP=1154;ExcessHet=2.5225;FS=7.23;MLEAC=4;MLEAF=0.286;MQ=58.84;MQRankSum=-8.47;QD=4.5;ReadPosRankSum=-1.261;SOR=0.958	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,23:283:99:0|1:54805033_C_T:183,0,10830:54805033	3	0	4	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	5827.13	183	chr19	54805068	.	A	G	5827.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.424;DP=1107;ExcessHet=2.5225;FS=6.181;MLEAC=4;MLEAF=0.286;MQ=58.6;MQRankSum=-7.554;QD=5.86;ReadPosRankSum=-0.356;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,31:247:99:0|1:54805068_A_G:652,0,8608:54805068	3	0	4	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4352.11	174	chr19	54805957	.	A	T	4352.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.43;DP=1267;ExcessHet=4.7409;FS=7.958;MLEAC=5;MLEAF=0.357;MQ=57.01;MQRankSum=-13.09;QD=4.16;ReadPosRankSum=0.61;SOR=1.411	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,32:284:99:0|1:54805940_TCTC_T:585,0,10485:54805940	2	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	4916.11	184	chr19	54805960	.	A	G	4916.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.06;DP=1304;ExcessHet=4.7409;FS=6.296;MLEAC=5;MLEAF=0.357;MQ=56.94;MQRankSum=-13.44;QD=4.54;ReadPosRankSum=0.472;SOR=1.333	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,35:292:99:0|1:54805940_TCTC_T:696,0,10686:54805940	2	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	7636.11	202	chr19	54805974	.	A	T	7636.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=4.08;DP=1447;ExcessHet=4.7409;FS=4.344;MLEAC=5;MLEAF=0.357;MQ=56.86;MQRankSum=-13.23;QD=6.23;ReadPosRankSum=0.044;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:274,44:318:99:0|1:54805940_TCTC_T:1023,0,11369:54805940	2	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.3571	9049.11	225	chr19	54805981	.	G	A	9049.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=3.89;DP=1535;ExcessHet=4.7409;FS=3.149;MLEAC=5;MLEAF=0.357;MQ=56.95;MQRankSum=-12.62;QD=6.89;ReadPosRankSum=0;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,52:333:99:0|1:54805940_TCTC_T:1312,0,11585:54805940	2	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	13581.1	274	chr19	54806034	.	C	A	13581.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.398;DP=2464;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.72;MQRankSum=-13.3;QD=8.23;ReadPosRankSum=1.75;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,77:428:99:0|1:54806034_C_A:2177,0,14437:54806034	2	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	13566.1	276	chr19	54806035	.	A	G	13566.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.83;DP=2458;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=56.71;MQRankSum=-13.36;QD=8.19;ReadPosRankSum=1.88;SOR=0.64	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:351,77:428:99:0|1:54806034_C_A:2177,0,14437:54806034	2	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3571	12878.1	281	chr19	54806051	.	C	G	12878.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.294;DP=2491;ExcessHet=4.7409;FS=1.314;MLEAC=5;MLEAF=0.357;MQ=56.99;MQRankSum=-13.36;QD=7.59;ReadPosRankSum=2.95;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,74:434:99:0|1:54806034_C_A:2024,0,14894:54806034	2	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11995.1	283	chr19	54806072	.	GGA	G	11995.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.041;DP=2515;ExcessHet=4.7409;FS=3.043;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.27;QD=6.97;ReadPosRankSum=1.83;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,72:443:99:0|1:54806034_C_A:1906,0,15361:54806034	2	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	11971.1	281	chr19	54806075	.	A	AGG	11971.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.193;DP=2508;ExcessHet=4.7409;FS=3.09;MLEAC=5;MLEAF=0.357;MQ=57.23;MQRankSum=-13.15;QD=6.98;ReadPosRankSum=1.46;SOR=0.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:371,72:443:99:0|1:54806034_C_A:1906,0,15361:54806034	2	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	11759.1	287	chr19	54806086	.	T	C	11759.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.621;DP=2489;ExcessHet=4.7409;FS=5.174;MLEAC=5;MLEAF=0.357;MQ=57.31;MQRankSum=-13.31;QD=6.94;ReadPosRankSum=-0.946;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:359,73:432:99:0|1:54806034_C_A:1985,0,14855:54806034	2	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	10119.1	283	chr19	54806109	.	A	G	10119.1	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.304;DP=2406;ExcessHet=4.7409;FS=6.687;MLEAC=5;MLEAF=0.357;MQ=57.61;MQRankSum=-13.22;QD=6.28;ReadPosRankSum=-2.327;SOR=1.264	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:339,62:401:99:0|1:54806034_C_A:1583,0,14048:54806034	2	0	5	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G,KIR2DL4:NM_001080772:exon4:c.A572G:p.E191G	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	635.37	213	chr19	54806161	.	A	G	635.37	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.75;DP=2015;ExcessHet=0.3476;FS=25.986;MLEAC=2;MLEAF=0.143;MQ=58.43;MQRankSum=-14.55;QD=1.49;ReadPosRankSum=2.31;SOR=3.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:301,25:326:99:0|1:54806034_C_A:144,0,12564:54806034	5	0	2	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T,KIR2DL4:NM_001080772:exon4:c.G581C:p.R194T	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	566.24	212	chr19	54806170	.	G	C	566.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.92;DP=2003;ExcessHet=0.3476;FS=23.595;MLEAC=2;MLEAF=0.143;MQ=58.62;MQRankSum=-14.51;QD=1.4;ReadPosRankSum=0.645;SOR=3.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,23:313:93:0|1:54806034_C_A:93,0,12108:54806034	5	0	2	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10056.1	276	chr19	54808838	.	C	T	10056.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=4.4;DP=1648;ExcessHet=2.5225;FS=2.262;MLEAC=4;MLEAF=0.286;MQ=57.35;MQRankSum=-15.2;QD=6.46;ReadPosRankSum=1.4;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:367,64:431:99:0|1:54808838_C_T:1583,0,15055:54808838	3	0	4	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11505.1	298	chr19	54808850	.	TGG	T	11505.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=3.41;DP=1741;ExcessHet=2.5225;FS=1.35;MLEAC=4;MLEAF=0.286;MQ=57.51;MQRankSum=-14.6;QD=7.01;ReadPosRankSum=-0.778;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:378,70:448:99:0|1:54808838_C_T:1801,0,15600:54808838	3	0	4	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11494.1	298	chr19	54808853	.	C	CAT	11494.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=3.09;DP=1744;ExcessHet=2.5225;FS=1.357;MLEAC=4;MLEAF=0.286;MQ=57.57;MQRankSum=-14.36;QD=7.04;ReadPosRankSum=-0.862;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:375,70:445:99:0|1:54808838_C_T:1811,0,15474:54808838	3	0	4	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.2857	12587.1	309	chr19	54808875	.	T	C	12587.1	.	AC=4;AF=0.286;AN=14;BaseQRankSum=2.63;DP=1789;ExcessHet=2.5225;FS=0;MLEAC=4;MLEAF=0.286;MQ=57.86;MQRankSum=-13.9;QD=7.55;ReadPosRankSum=-2.419;SOR=0.713	GT:AD:DP:GQ:PL	0/1:381,79:460:99:2134,0,9834	3	0	4	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T,KIR3DL1:NM_013289:exon9:c.G1226C:p.R409T	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3097.96	149	chr19	54830166	.	G	C	3097.96	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.882;DP=993;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.7;MQRankSum=-15.91;QD=4.08;ReadPosRankSum=0.554;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:303,22:325:12:0|1:54830166_G_C:12,0,12327:54830166	3	0	3	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C,KIR3DL1:NM_013289:exon9:c.C1237T:p.R413C	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3104.05	149	chr19	54830177	.	C	T	3104.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.763;DP=1021;ExcessHet=1.1394;FS=0.732;MLEAC=3;MLEAF=0.25;MQ=57.73;MQRankSum=-16.53;QD=3.94;ReadPosRankSum=1.89;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,23:328:48:0|1:54830166_G_C:48,0,12654:54830166	3	0	3	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P,KIR3DL1:NM_013289:exon9:c.G1238C:p.R413P	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3146.05	149	chr19	54830178	.	G	C	3146.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-3.047;DP=1022;ExcessHet=1.1394;FS=0.732;MLEAC=3;MLEAF=0.25;MQ=57.7;MQRankSum=-16.56;QD=3.99;ReadPosRankSum=2.09;SOR=0.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,23:328:48:0|1:54830166_G_C:48,0,12715:54830166	3	0	3	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T,KIR3DL1:NM_013289:exon9:c.T1277C:p.I426T	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3260.05	149	chr19	54830217	.	T	C	3260.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.548;DP=1015;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.62;MQRankSum=-16.68;QD=4.17;ReadPosRankSum=4.32;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,25:318:99:0|1:54830166_G_C:168,0,12228:54830166	3	0	3	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M,KIR3DL1:NM_013289:exon9:c.T1279A:p.L427M	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3269.05	149	chr19	54830219	.	T	A	3269.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.616;DP=1013;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.62;MQRankSum=-16.78;QD=4.2;ReadPosRankSum=3.98;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,25:315:99:0|1:54830166_G_C:177,0,12102:54830166	3	0	3	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M,KIR3DL1:NM_013289:exon9:c.C1286T:p.T429M	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	3182.05	149	chr19	54830226	.	C	T	3182.05	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-4.055;DP=1015;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.66;MQRankSum=-16.75;QD=4.1;ReadPosRankSum=2.84;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:290,25:315:99:0|1:54830166_G_C:177,0,12102:54830166	3	0	3	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6,KIR3DL1:NM_013289:exon9:c.1313delC:p.S438Ffs*6	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2831.68	149	chr19	54830252	.	TC	T	2831.68	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-2.8;DP=951;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=57.76;MQRankSum=-16.38;QD=3.97;ReadPosRankSum=-2.248;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,24:282:99:0|1:54830166_G_C:231,0,10761:54830166	4	0	3	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*,KIR3DL1:NM_013289:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2798.01	149	chr19	54830255	.	AAAG	A	2798.01	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.896;DP=947;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.25;MQ=57.79;MQRankSum=-16.41;QD=3.94;ReadPosRankSum=-2.077;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,23:280:99:0|1:54830166_G_C:192,0,10722:54830166	3	0	3	1
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5890.45	371	chr19	54847203	.	T	*	5890.45	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.441;DP=2058;ExcessHet=3.6764;FS=2.419;MLEAC=3;MLEAF=0.214;MQ=59.3;MQRankSum=-3.065;QD=2.96;ReadPosRankSum=0.299;SOR=0.826	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:230,93:417:99:.:.:2908,0,10955:.	4	0	3	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	6949.34	221	chr19	54855625	.	A	T	6949.34	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.929;DP=1073;ExcessHet=4.7409;FS=7.737;MLEAC=4;MLEAF=0.286;MQ=56.93;MQRankSum=-11.32;QD=7.22;ReadPosRankSum=1.77;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,29:262:99:0|1:54855608_TCTC_T:516,0,9696:54855608	2	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	6738.04	224	chr19	54855628	.	A	G	6738.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-2.16;DP=1085;ExcessHet=2.5225;FS=9.283;MLEAC=4;MLEAF=0.286;MQ=57.09;MQRankSum=-11.7;QD=6.94;ReadPosRankSum=1.65;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,28:260:99:0|1:54855608_TCTC_T:477,0,9624:54855608	3	0	4	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	11033.2	173	chr19	54865810	.	T	C	11033.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-0.498;DP=897;ExcessHet=2.5225;FS=3.367;MLEAC=4;MLEAF=0.333;MQ=57.82;MQRankSum=-8.299;QD=13.54;ReadPosRankSum=1.77;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,58:229:99:0|1:54865794_T_C:1921,0,7006:54865794	2	0	4	1
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10790.2	177	chr19	54865825	.	G	A	10790.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.734;DP=920;ExcessHet=2.5225;FS=2.565;MLEAC=4;MLEAF=0.333;MQ=57.94;MQRankSum=-8.33;QD=12.91;ReadPosRankSum=1.81;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,58:237:99:0|1:54865794_T_C:1897,0,7342:54865794	2	0	4	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10604.2	181	chr19	54865847	.	T	C	10604.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=3.01;DP=935;ExcessHet=2.5225;FS=2.595;MLEAC=4;MLEAF=0.333;MQ=57.92;MQRankSum=-8.505;QD=12.43;ReadPosRankSum=1.13;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,57:238:99:0|1:54865794_T_C:1849,0,7429:54865794	2	0	4	1
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10760.2	184	chr19	54865852	.	T	A	10760.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.709;DP=942;ExcessHet=2.5225;FS=1.848;MLEAC=4;MLEAF=0.333;MQ=57.93;MQRankSum=-8.551;QD=12.5;ReadPosRankSum=0.389;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,57:241:99:0|1:54865794_T_C:1840,0,7555:54865794	2	0	4	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10694.2	180	chr19	54865864	.	C	A	10694.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.957;DP=920;ExcessHet=2.5225;FS=1.162;MLEAC=4;MLEAF=0.333;MQ=57.99;MQRankSum=-7.626;QD=12.76;ReadPosRankSum=-0.519;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,59:238:99:0|1:54865794_T_C:1939,0,7339:54865794	2	0	4	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	10341.2	176	chr19	54865870	.	C	T	10341.2	.	AC=4;AF=0.333;AN=12;BaseQRankSum=1.96;DP=901;ExcessHet=2.5225;FS=1.159;MLEAC=4;MLEAF=0.333;MQ=58.11;MQRankSum=-7.569;QD=12.6;ReadPosRankSum=-1.403;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,60:239:99:0|1:54865794_T_C:1981,0,7336:54865794	2	0	4	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8983.25	149	chr19	54865885	.	T	C	8983.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.89;DP=827;ExcessHet=3.1439;FS=1.174;MLEAC=4;MLEAF=0.333;MQ=57.96;MQRankSum=-7.578;QD=11.99;ReadPosRankSum=-1.451;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,54:231:99:0|1:54865794_T_C:1735,0,7270:54865794	2	0	4	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8960.25	149	chr19	54865888	.	C	T	8960.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.33;DP=820;ExcessHet=3.1439;FS=0.558;MLEAC=4;MLEAF=0.333;MQ=57.94;MQRankSum=-7.578;QD=12.08;ReadPosRankSum=-1.934;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,53:228:99:0|1:54865794_T_C:1658,0,7128:54865794	2	0	4	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3333	8502.25	149	chr19	54865893	.	G	C	8502.25	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.54;DP=787;ExcessHet=3.1439;FS=1.185;MLEAC=4;MLEAF=0.333;MQ=57.92;MQRankSum=-7.514;QD=12.01;ReadPosRankSum=-1.557;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,48:214:99:0|1:54865794_T_C:1475,0,6765:54865794	2	0	4	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3571	8695.11	187	chr19	54866420	.	C	G	8695.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.678;DP=1033;ExcessHet=4.7409;FS=14.973;MLEAC=5;MLEAF=0.357;MQ=57.03;MQRankSum=-12.73;QD=9.02;ReadPosRankSum=1.25;SOR=0.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:257,61:318:99:0|1:54866416_T_C:1788,0,10608:54866416	2	0	5	0
chr19	55313037	55313037	C	T	exonic	TMEM150B	.	nonsynonymous SNV	TMEM150B:NM_001085488:exon8:c.G524A:p.C175Y,TMEM150B:NM_001282011:exon8:c.G524A:p.C175Y	.	.	.	.	.	.	.	.	.	.	.	3616881	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.050	0.00437127124835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	4.089e-06	0	1.163e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.118	0.36233	T	0.017	0.17573	B	0.006	0.12133	B	0.404587	0.04555	N	1.364350	1	0.08975	N	-1.04	0.01097	N	1.03	0.40469	T	1.12	0.01197	N	0.191	0.20925	-0.9855	0.33711	T	0.026	0.11309	T	10	0.06871587	0.09758	T	0.004371	0.10655	T	0.050	0.13987	0.623	0.75803	0.0551355673512	0.04727	0.2946259529521421	0.29375	0.177468087128	0.19963	0.385279536247	0.23003	T	0.166144	0.51226	T	-0.282423	0.10413	T	-0.643457	0.09419	T	0.0588217629939044	0.06981	T	0.260474	0.05140	T	0.043916926	0.06931	0.08828326	0.20574	0.043916926	0.06930	0.08828326	0.20574	-4.266	0.27697	T	.	.	0.065	0.02038	B	.;.	.;.	-0.418383	0.02144	0.207	0.77702444107387081	0.11986	0.04155	0.09645	N	AEFDGBCI	0.194276	0.32137	N	-1.58592114384843	0.01336	0.0582121	-1.50798766391217	0.02282	0.1047151	0.331213916701266	0.19487	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.37	0.432	0.15742	-0.368000	0.07597	-1.710000	0.04870	-0.258000	0.06954	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2664:0.478:0.1529:0.1027	2.635	0.04655	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	867.44	34	chr19	55313037	.	C	T	867.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.38;DP=307;ExcessHet=0;FS=0.78;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=-0.019;SOR=0.807	GT:AD:DP:GQ:PL	0/1:56,40:96:99:878,0,1416	6	0	1	0
chr19	55715157	55715157	G	A	exonic	NLRP9	.	nonsynonymous SNV	NLRP9:NM_176820:exon6:c.C2399T:p.S800F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0251733743731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	0.24661	T	0.035	0.52389	D	0.859	0.47319	P	0.707	0.54387	P	.	.	.	.	1	0.08975	N	.	.	.	0.51	0.55439	T	-3.69	0.70432	D	0.324	0.36464	-0.8277	0.53448	T	0.241	0.60941	T	9	0.30712396	0.48217	T	0.025173	0.48148	D	0.069	0.20116	0.53	0.63707	0.464270400615	0.46053	0.0947775059406177	0.09409	0.0506893168278	0.05566	0.475639253855	0.35457	T	0.181697	0.53346	T	-0.15048	0.28235	T	-0.453931	0.27263	T	0.467664402244805	0.31445	T	0.435556	0.11926	T	0.11930024	0.28094	0.100064695	0.23914	0.11930024	0.28094	0.100064695	0.23913	-7.76	0.59430	D	.	.	0.149	0.39765	B	.;.	.;.	1.402916	0.18172	13.59	0.98360886240332568	0.40648	0.01374	0.04687	N	AEFBI	0.036478	0.04866	N	-0.465687131737819	0.23211	1.24488	-0.750958533914913	0.15698	0.8269469	1.67610667327111E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.54	0.241	0.14755	1.853000	0.38998	-1.569000	0.05150	0.637000	0.52028	0.028000	0.20300	0.000000	0.08366	0.017000	0.10941	0.1497:0.0:0.5926:0.2577	3.211	0.06286	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1487.44	36	chr19	55715157	.	G	A	1487.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.578;DP=322;ExcessHet=0;FS=0.649;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=-0.855;SOR=0.765	GT:AD:DP:GQ:PL	0/1:66,64:130:99:1498,0,1621	6	0	1	0
chr19	55809288	55809288	G	A	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon4:c.C1025T:p.T342I,NLRP11:NM_001385451:exon5:c.C1322T:p.T441I,NLRP11:NM_001385453:exon5:c.C1322T:p.T441I,NLRP11:NM_145007:exon5:c.C1322T:p.T441I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0197888183433	7.7e-05	.	3.297e-05	9.626e-05	0	0	0	4.498e-05	0	0	3.23e-05	5	154602	rs372266379	2.531e-05	2.531e-05	2.45e-05	2.613e-05	3.478e-05	1.868e-05	1.631e-05	2.082e-05	1.782e-05	2.987e-05	0	0	0	0	0	2.878e-05	1.656e-05	3.478e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-05	4.826e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	4.826e-05	0	0	0	0	0	0	4.41e-05	0	0	.	.	.	0.021	0.58089	D	0.411	0.49514	B	0.176	0.44885	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	-0.79	0.74477	T	.	.	.	0.127	0.12055	-0.9207	0.45458	T	0.146	0.47021	T	9	0.071442425	0.10531	T	0.019789	0.42241	T	.	.	.	.	0.391000631824	0.38715	0.289246959348705	0.28837	.	.	0.279491901398	0.07422	T	0.017173	0.14057	T	-0.406225	0.02106	T	-0.629608	0.10444	T	0.0810067959514675	0.10115	T	0.564843	0.19943	T	0.035003953	0.04038	0.047480665	0.06847	0.035003953	0.04037	0.047480665	0.06847	-4.124	0.28498	T	.	.	0.140	0.30582	B	.;.;.	.;.;.	0.048449	0.04628	1.290	0.97780256811389388	0.35932	0.01420	0.04791	N	AEFBCI	0.038279	0.05394	N	-1.36454138690653	0.02977	0.1322755	-1.52110682058913	0.02182	0.09997568	0.953782856225105	0.28093	0.533608	0.22052	0	0.541556	0.11502	0	0.685742	0.62368	0	0.564101	0.26826	0	.	.	2.2	-3.27	0.04735	-1.257000	0.02976	-3.186000	0.02988	-0.911000	0.02260	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4366:0.2462:0.3172	4.546	0.11482	835	0.38313	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1638.44	33	chr19	55809288	.	G	A	1638.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.54;DP=296;ExcessHet=0;FS=0.709;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.76;ReadPosRankSum=0.091;SOR=0.79	GT:AD:DP:GQ:PL	0/1:54,57:111:99:1649,0,1350	6	0	1	0
chr19	58357131	58357131	T	C	exonic	ZNF497	.	nonsynonymous SNV	ZNF497:NM_001207009:exon2:c.A505G:p.K169E,ZNF497:NM_198458:exon3:c.A505G:p.K169E	.	412	1107	3	0	0	3	0.00135318	.	.	.	3350672	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00266133179415	0.0005	.	0.0002	0	0.0002	0	0.0002	0.0003	0	6.16e-05	0.0001811	28	154602	rs200614748	0.0003	0.0003	0.0003	0.0003	0.0009	0.0003	0.0003	0.0004	0.0003	3.022e-05	4.536e-05	7.763e-05	0	5.687e-05	0.0009	0.0004	0.0002	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	4.815e-05	0	0.0001	0	0	0	0	0.0006	0.0009	0	0.007	0.59928	D	0.006	0.70582	D	0.999	0.77913	D	0.99	0.78936	D	.	.	.	.	0.984363	0.24806	N	1.65	0.42232	L	1.69	0.27032	T	-3.38	0.66780	D	0.23	0.25867	-1.0214	0.23259	T	0.118	0.41538	T	9	0.15790862	0.29707	T	0.002661	0.05434	T	0.031	0.07369	.	.	0.514416127146	0.51083	0.05415365659661608	0.05357	1.20472787136	0.80666	0.431578278542	0.29424	T	0.08316	0.36992	T	-0.39407	0.02532	T	-0.458892	0.26719	T	0.11451900479981	0.13886	T	0.276672	0.04749	T	0.24476346	0.47428	0.17288291	0.39574	0.24476346	0.47428	0.17288291	0.39574	-8.766	0.66178	D	.	.	0.949	0.86836	P	.;.	.;.	2.279057	0.29141	18.03	0.98766139172083023	0.45893	0.14143	0.18246	N	AEFDBCI	0.072249	0.14412	N	-0.377751602334487	0.26264	1.43203	-0.702889709623859	0.16889	0.8955397	0.999992550030433	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.608524	0.38960	0	0.554799	0.18163	0	.	.	0.934	-0.278	0.12256	2.143000	0.41811	-12.905000	0.00492	0.260000	0.18395	0.043000	0.21118	0.000000	0.08366	0.297000	0.24428	0.0:0.1943:0.0:0.8057	5.226	0.14716	958	0.09170	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	2086.46	36	chr19	58357131	.	T	C	2086.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.674;DP=363;ExcessHet=0;FS=1.208;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.304;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,85:168:99:1|0:58357114_G_T:2097,0,3071:58357114	6	0	1	0
chr20	229737	229737	C	A	exonic	DEFB129	.	nonsynonymous SNV	DEFB129:NM_080831:exon2:c.C518A:p.P173Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.0107788321722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.351	0.17425	T	0.478	0.36706	P	0.1	0.30674	B	0.002753	0.36001	N	0.000000	1	0.08975	N	0.69	0.16971	N	0.64	0.52867	T	-1.87	0.43717	N	0.159	0.16586	-1.0426	0.16532	T	0.059	0.24539	T	10	0.09048301	0.15765	T	0.010779	0.27705	T	0.067	0.19503	0.075	0.00517	0.206339911435	0.20273	0.243968376416795	0.24310	0.578357354615	0.53735	0.272386163473	0.06454	T	0.005483	0.04931	T	-0.207045	0.19797	T	-0.535182	0.18773	T	0.423884757100785	0.29834	T	0.410559	0.10607	T	0.06253011	0.13071	0.08211714	0.18716	0.06253011	0.13070	0.08211714	0.18716	-4.354	0.28927	T	.	.	0.096	0.15385	B	.	.	1.505870	0.19352	14.22	0.97525787586907475	0.34432	0.05451	0.11329	N	AEFBI	0.024774	0.01587	N	-0.727966042490004	0.15238	0.7662301	-0.783015476556208	0.14911	0.7816172	2.11665721522032E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.39	2.41	0.28644	0.364000	0.20053	0.547000	0.19386	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.1988:0.6986:0.0:0.1026	5.363	0.15402	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1110.49	41	chr20	229737	.	C	A	1110.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.882;DP=293;ExcessHet=0;FS=1.935;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.486;SOR=0.938	GT:AD:DP:GQ:PL	0/1:48,41:89:99:1121,0,1314	6	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	869.31	70	chr20	3803192	.	G	C	869.31	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-1.474;DP=561;ExcessHet=3.1439;FS=207.23;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.22;ReadPosRankSum=1.8;SOR=10.505	GT:AD:DP:GQ:PL	0/1:73,42:126:99:190,0,1018	1	0	4	2
chr20	20601706	20601706	T	G	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon16:c.A2179C:p.N727H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.206	0.339013224807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334234565	5.475e-06	5.472e-06	4.085e-06	6.879e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.158	0.31629	T	1.0	0.90584	D	0.979	0.74454	D	0.000000	0.84330	D	0.042894	0.960768	0.38198	D	2.015	0.55033	M	-3.6	0.95009	D	-2.91	0.60982	D	0.551	0.57690	1.008	0.97331	D	0.881	0.96052	D	10	0.4852583	0.60669	T	0.339013	0.91963	D	0.516	0.79340	0.207	0.12356	0.633743785003	0.63074	0.33373720564172843	0.33286	0.0837739893992	0.09445	0.469725608826	0.34642	T	0.038388	0.24821	T	0.112274	0.65587	D	-0.076502	0.65160	T	0.873881220817566	0.52374	D	0.935306	0.75759	D	0.33805072	0.56123	0.24302673	0.49737	0.33805072	0.56123	0.24302673	0.49736	-7.963	0.60817	D	.	.	0.183	0.41047	B	.;.	.;.	3.721848	0.53189	23.3	0.99608373120797589	0.74634	0.96982	0.72011	D	AEBI	0.680012	0.64385	D	0.475260225896916	0.65650	4.849167	0.388549526459795	0.60859	4.278314	0.988295093603393	0.31467	0.732398	0.92422	0	0.653731	0.59785	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.85	4.85	0.62375	6.148000	0.71557	6.185000	0.54687	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.127000	0.19450	0.0:0.0:0.0:1.0	14.727	0.68967	456	0.79013	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1055.53	35	chr20	20601706	.	T	G	1055.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.38;DP=239;ExcessHet=0;FS=0.877;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.21;SOR=0.56	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1066,0,647	6	0	1	0
chr20	21346525	21346525	G	C	exonic	XRN2	.	nonsynonymous SNV	XRN2:NM_001317960:exon17:c.G1874C:p.C625S,XRN2:NM_012255:exon17:c.G1640C:p.C547S	.	435	1068	17	2	0	21	0.00973574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.648	.	0.0036	0.00239617	0.0051	0.0011	0.0029	0	0.0116	0.0058	0.0066	0.0062	0.0046377	717	154602	rs150230004	0.0053	0.0053	0.0052	0.0053	0.0060	0.0052	0.0051	0.0056	0.0054	0.0009	0.0032	0.0028	0	0.0087	0.0035	0.0056	0.0039	0.0060	0.0040	0.0040	0.0038	0.0043	0.0070	0.0037	0.0036	0.0052	0.0046	0.0010	0.0033	0.0028	0.0029	0	0.0112	0.0102	0.0052	0.0019	0.0070	0.214	0.19361	T	0.011	0.64786	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.725	0.44537	L	-0.8	0.73845	T	-9.58	0.98511	D	0.908	0.90932	-0.3595	0.73278	T	0.437	0.77644	T	10	0.017083108	0.00363	T	.	.	.	0.648	0.86686	0.716	0.85141	0.659342747505	0.65648	0.8288596567162038	0.82843	1.12822586205	0.78511	0.867681622505	0.92235	D	0.302317	0.67472	T	0.0143757	0.53619	T	0.250902	0.85659	D	0.0658959289334676	0.08062	T	0.972803	0.90184	D	0.7349612	0.80005	0.8491353	0.91447	0.7349612	0.80006	0.8491353	0.91447	-5.837	0.44896	T	.	.	0.635	0.70325	P	.	.	5.183129	0.86912	29.1	0.9947290538958713	0.66419	0.99357	0.94965	D	AEFBI	0.961089	0.98218	D	0.756900345503115	0.83355	7.995523	0.79193093195718	0.89225	9.889148	0.99999999984852	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	9.570000	0.97330	11.807000	0.96822	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.349	0.98808	429	0.80881	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002530	0.010101	0.001362	0.005848	0.000000	0.000000	0.000000	0.003817	0.07143	923.53	34	chr20	21346525	.	G	C	923.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.33;DP=261;ExcessHet=0;FS=0.86;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.21;SOR=0.846	GT:AD:DP:GQ:PL	0/1:50,35:85:99:934,0,1235	6	0	1	0
chr20	25248348	25248348	C	G	exonic	PYGB	.	nonsynonymous SNV	PYGB:NM_002862:exon1:c.C170G:p.A57G	.	0	1521	1	0	0	1	0.000328623	.	.	.	728581	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.686	0.405744605782	0.0032	0.000199681	0.0026	0.0006	0.0004	0	0.0011	0.0043	0.0013	0.0003	0.0021669	335	154602	rs146966138	0.0040	0.0039	0.0041	0.0038	0.0047	0.0039	0.0038	0.0046	0.0046	0.0005	0.0008	0.0039	0	0.0006	0.0003	0.0047	0.0042	0.0010	0.0023	0.0023	0.0026	0.0020	0.0043	0.0021	0.0020	0.0039	0.0037	0.0006	0	0.0007	0.0046	0	0.0003	0	0.0043	0.0005	0.0008	0.02	0.49613	D	0.027	0.55341	D	0.982	0.60036	D	0.813	0.58748	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.205	0.89189	M	-1.39	0.80387	T	-3.3	0.65858	D	0.7	0.70439	0.351	0.88347	D	0.612	0.86250	D	10	0.056764275	0.06415	T	0.405745	0.93493	D	0.686	0.88538	.	.	0.910206990903	0.90931	0.638605930088369	0.63794	0.251932809198	0.27767	0.850661277771	0.89715	D	0.672337	0.90289	D	-0.156843	0.27248	T	0.00140893	0.70429	D	0.035500775179413	0.02894	T	0.985781	0.95172	D	0.8668135	0.88611	0.79448193	0.87924	0.8913007	0.90620	0.7797664	0.87016	-11.8	0.83863	D	0.388161421473586	0.48169	0.358	0.57104	A	.	.	5.126499	0.85775	28.7	0.99703541312497312	0.80798	0.96762	0.70803	D	ALL	0.907242	0.86102	D	0.691908476823768	0.79101	7.007417	0.635644353821385	0.77547	6.70022	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.1	4.1	0.47196	7.517000	0.80687	2.543000	0.33225	0.581000	0.30040	1.000000	0.71638	0.990000	0.31317	0.998000	0.85391	0.0:1.0:0.0:0.0	14.185	0.65143	619	0.66147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001013	0.005208	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.07143	1466.44	37	chr20	25248348	.	C	G	1466.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.88;DP=332;ExcessHet=0;FS=1.303;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=-0.484;SOR=0.549	GT:AD:DP:GQ:PL	0/1:84,65:149:99:1477,0,1762	6	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	1118.32	66	chr20	34852409	.	G	C	1118.32	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-2.853;DP=740;ExcessHet=11.5949;FS=341.312;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=1.72;ReadPosRankSum=0.758;SOR=11.219	GT:AD:DP:GQ:PL	0/1:93,54:164:99:250,0,1245	0	0	6	1
chr20	38147977	38147977	C	T	exonic	TGM2	.	nonsynonymous SNV	TGM2:NM_001323317:exon4:c.G422A:p.R141Q,TGM2:NM_001323318:exon4:c.G485A:p.R162Q,TGM2:NM_004613:exon5:c.G665A:p.R222Q,TGM2:NM_198951:exon5:c.G665A:p.R222Q,TGM2:NM_001323316:exon6:c.G665A:p.R222Q	.	417	1099	6	0	0	6	0.00272232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.334500365592	.	0.000798722	0.0005	0	0	0	0	0.0002	0	0.0027	0.0003234	50	154602	rs200551434	0.0002	0.0002	0.0001	0.0002	0.0020	0.0002	0.0002	0.0018	0.0017	0	2.246e-05	3.835e-05	0	0	0.0016	5.308e-05	0.0003	0.0020	0.0001	0.0001	8.992e-05	0.0002	0.0023	8.657e-05	7.25e-05	0.0013	0.0010	0	0	0	0	0	0	0	0.0001	0.0009	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	4.18	0.97724	H	-2.95	0.91903	D	-3.95	0.73477	D	0.927	0.93135	1.049	0.98100	D	0.907	0.96929	D	10	0.17540488	0.32471	T	0.335	0.91844	D	0.889	0.96799	.	.	0.823916440368	0.82225	0.9215771398404207	0.92133	0.912555713531	0.71118	0.469067007303	0.34552	T	0.695589	0.91188	D	0.174037	0.71494	D	0.47074	0.94013	D	0.711125731468201	0.41255	D	0.975402	0.97390	D	0.91264755	0.92542	0.79093367	0.87704	0.91264755	0.92543	0.79093367	0.87705	-8.757	0.66119	D	.	.	0.701	0.74811	P	.;.	.;.	5.636993	0.92716	32	0.99928067570820001	0.99222	0.97787	0.77130	D	AEFDBCI	0.919773	0.89079	D	0.741075797158161	0.82322	7.734235	0.601649009400187	0.75060	6.244102	0.999999999999996	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.78	4.78	0.60666	6.153000	0.71612	7.599000	0.61500	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.202000	0.21954	0.0:1.0:0.0:0.0	16.579	0.84562	875	0.30485	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002022	0.000000	0.001362	0.005917	0.000000	0.000000	0.000000	0.000000	0.07143	1083.53	36	chr20	38147977	.	C	T	1083.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.83;DP=303;ExcessHet=0;FS=0.695;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=0.7;SOR=0.815	GT:AD:DP:GQ:PL	0/1:73,49:122:99:1094,0,1681	6	0	1	0
chr20	57175004	57175004	T	C	exonic	BMP7	.	nonsynonymous SNV	BMP7:NM_001719:exon5:c.A962G:p.N321S	.	421	1082	17	2	0	21	0.00961098	.	.	.	705564	not_provided|Congenital_total_pulmonary_venous_return_anomaly|BMP7-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0018	0.00758786	0.0059	0.0008	0.0037	0.0003	0	0.0046	0.0051	0.0221	0.0051358	794	154602	rs61733438	0.0037	0.0037	0.0032	0.0041	0.0198	0.0036	0.0035	0.0172	0.0169	0.0011	0.0048	0.0161	5.04e-05	0.0002	0.0198	0.0024	0.0051	0.0179	0.0034	0.0034	0.0031	0.0037	0.0203	0.0032	0.0031	0.0170	0.0158	0.0008	0	0.0084	0.0127	0.0002	9.413e-05	0.0374	0.0028	0.0085	0.0203	0.742	0.08286	T	0.76	0.08900	T	0.0	0.28604	B	0.0	0.27859	B	0.000004	0.62929	N	0.139157	0.999999	0.58761	D	2.3	0.65703	M	-0.92	0.80214	T	-0.87	0.23590	N	0.198	0.21839	-0.8433	0.52426	T	0.174	0.51785	T	10	0.004758686	0.00109	T	.	.	.	0.176	0.44373	.	.	0.733870232206	0.73149	0.5379691657174063	0.53721	0.536218814805	0.50959	0.52202296257	0.41911	T	0.461817	0.79843	T	-0.461241	0.00966	T	-0.42038	0.31031	T	0.00601530324700459	0.00066	T	0.873613	0.58243	D	0.08295598	0.19135	0.05584124	0.09868	0.066140905	0.14201	0.05584124	0.09867	-1.466	0.01696	T	.	.	0.087	0.12797	B	.;.;.	.;.;.	1.185591	0.15766	12.09	0.31205754460880536	0.01746	0.76984	0.37803	D	AEFGBCI	0.388958	0.46837	N	-0.626331477560761	0.18157	0.940369	-0.491525585198468	0.22386	1.215639	0.946058912107186	0.27688	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.1	4.0	0.45673	3.760000	0.54947	4.215000	0.42557	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0761:0.0:0.9239	10.598	0.44537	963	0.08280	Transforming growth factor-beta, C-terminal;TGF-beta, propeptide|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013595	0.005051	0.012228	0.026316	0.000000	0.017241	0.000000	0.018939	0.08333	846.27	34	chr20	57175004	.	T	C	846.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.452;DP=231;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.482;SOR=0.674	GT:AD:DP:GQ:PL	0/1:31,35:66:99:856,0,716	5	0	1	1
chr20	57613163	57613163	C	T	exonic	ZBP1	.	nonsynonymous SNV	ZBP1:NM_001160418:exon4:c.G445A:p.G149S,ZBP1:NM_001323966:exon4:c.G445A:p.G149S,ZBP1:NM_001160417:exon5:c.G667A:p.G223S,ZBP1:NM_001160419:exon5:c.G670A:p.G224S,ZBP1:NM_030776:exon5:c.G670A:p.G224S	.	424	1043	53	2	0	57	0.0265982	.	.	.	705567	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.086	.	0.0065	0.00838658	0.0087	0.0016	0.0057	0.0003	0.0003	0.0094	0.0156	0.0200	0.0082858	1281	154602	rs41304401	0.0089	0.0089	0.0084	0.0094	0.0369	0.0087	0.0087	0.0329	0.0313	0.0019	0.0070	0.0114	0	0.0010	0.0369	0.0089	0.0100	0.0181	0.0072	0.0072	0.0072	0.0072	0.0149	0.0068	0.0067	0.0133	0.0127	0.0016	0.0022	0.0149	0.0104	0.0002	0.0004	0.0340	0.0095	0.0156	0.0135	0.05	0.40573	D	0.137	0.35455	T	0.938	0.52538	P	0.121	0.32300	B	0.000732	0.42129	D	0.000000	1	0.08975	N	1.115	0.28702	L	2.51	0.19311	T	-3.84	0.75058	D	0.15	0.16725	-1.0423	0.16621	T	0.015	0.05946	T	10	0.006138891	0.00138	T	.	.	.	0.086	0.25016	.	.	0.0954503805726	0.09146	0.2905044889027909	0.28963	0.0492264015574	0.05384	0.260742336512	0.04980	T	0.041566	0.25900	T	-0.611551	0.00124	T	-0.636291	0.09943	T	0.0344413448309581	0.02713	T	0.463454	0.13490	T	0.10971222	0.25937	0.10917021	0.26306	0.10971222	0.25937	0.10917021	0.26306	-3.215	0.18016	T	.	.	0.086	0.11558	B	.;.;.	.;.;.	1.213435	0.16064	12.29	0.98058157835877602	0.37921	0.09510	0.15250	N	AEFGBI	0.099376	0.20005	N	-0.780357890943715	0.13821	0.6837764	-0.914035834607524	0.11763	0.6012403	0.00280640418808576	0.09719	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.13	1.1	0.19578	0.353000	0.19868	0.577000	0.19666	-0.832000	0.02862	0.253000	0.24879	0.061000	0.22037	0.000000	0.00833	0.235:0.6344:0.0:0.1306	3.844	0.08435	812	0.42537	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.027190	0.035354	0.017663	0.064327	0.100000	0.034483	0.018293	0.015152	0.07143	1935.44	33	chr20	57613163	.	C	T	1935.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.69;DP=347;ExcessHet=0;FS=2.054;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=-0.777;SOR=0.881	GT:AD:DP:GQ:PL	0/1:80,78:158:99:1946,0,1887	6	0	1	0
chr20	59880392	59880392	A	G	exonic	SYCP2	.	nonsynonymous SNV	SYCP2:NM_014258:exon31:c.T2852C:p.I951T	.	491	1010	19	2	0	23	0.011258	.	.	.	742490	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0023	0.00279553	0.0075	0.0028	0.0026	0.0002	0.0015	0.0053	0.0129	0.0242	0.004269	660	154602	rs151163205	0.0033	0.0033	0.0027	0.0039	0.0199	0.0032	0.0032	0.0191	0.0188	0.0018	0.0014	0.0110	2.54e-05	0.0011	0.0141	0.0021	0.0036	0.0199	0.0028	0.0028	0.0026	0.0029	0.0170	0.0026	0.0025	0.0140	0.0129	0.0020	0	0.0009	0.0118	0.0002	0.0008	0	0.0028	0.0024	0.0170	0.002	0.72154	D	0.089	0.40426	T	0.873	0.47975	P	0.523	0.48316	P	0.115937	0.19214	N	0.526307	0.675527	0.33183	D	2.36	0.67893	M	1.99	0.25996	T	-1.73	0.41428	N	0.549	0.57518	-0.8524	0.51802	T	0.085	0.33071	T	10	0.0054754317	0.00121	T	.	.	.	0.080	0.23350	.	.	0.198222871337	0.19423	0.1296067380900451	0.12885	0.181139919638	0.20371	0.383799672127	0.22794	T	0.325304	0.69603	T	-0.426602	0.01555	T	-0.370624	0.36816	T	0.0361782947290068	0.03013	T	0.759724	0.39899	T	0.17678405	0.38609	0.18749948	0.41986	0.17678405	0.38609	0.18749948	0.41985	-3.604	0.17915	T	.	.	0.366	0.65087	A	.;.;.	.;.;.	3.250656	0.44415	21.9	0.99779029259715812	0.86606	0.89916	0.50699	D	AEDI	0.323592	0.42573	N	0.398077559212782	0.61317	4.331235	0.410644987295162	0.62227	4.434644	0.00395175141296271	0.10355	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.92	4.76	0.60189	4.616000	0.60900	6.810000	0.56646	0.691000	0.84096	0.986000	0.36153	0.976000	0.30059	0.975000	0.56047	0.8401:0.1599:0.0:0.0	10.685	0.45037	994	0.00715	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.008577	0.000000	0.008174	0.005882	0.000000	0.008621	0.006098	0.022727	0.1429	1695.65	32	chr20	59880392	.	A	G	1695.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.549;DP=263;ExcessHet=0.3476;FS=4.216;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=1.24;SOR=1.073	GT:AD:DP:GQ:PL	0/1:19,39:58:99:1039,0,400	5	0	2	0
chr20	62312300	62312300	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon69:c.C9377T:p.T3126I	.	427	1091	4	0	0	4	0.00182983	.	.	.	705591	LAMA5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.149	0.0292301070555	0.0028	0.00119808	0.0022	0.0006	0.0007	0	0.0010	0.0033	0.0013	0.0015	0.0019857	307	154602	rs149357675	0.0029	0.0029	0.0029	0.0030	0.0036	0.0029	0.0028	0.0035	0.0034	0.0007	0.0008	0.0002	0	0.0004	0.0017	0.0036	0.0023	0.0014	0.0020	0.0020	0.0024	0.0016	0.0036	0.0018	0.0018	0.0033	0.0031	0.0008	0	0.0008	0	0	0.0003	0.0034	0.0036	0.0019	0.0012	0.044	0.41096	D	0.026	0.55759	D	0.968	0.56581	D	0.554	0.49340	P	0.015163	0.28322	N	0.385833	0.999872	0.19925	N	1.79	0.46772	L	0.89	0.45636	T	-3.09	0.63438	D	0.504	0.53620	-0.8966	0.48331	T	0.113	0.40284	T	10	0.013069451	0.00278	T	0.02923	0.51775	D	0.149	0.39377	.	.	0.594341913235	0.59113	0.55356763022503	0.55282	.	.	0.524103164673	0.42204	T	0.197023	0.55357	T	-0.415707	0.01823	T	-0.366603	0.37285	T	0.0312924673194023	0.02193	T	0.70113	0.31087	T	0.11412419	0.26945	0.110459395	0.26634	0.11412419	0.26944	0.110459395	0.26634	-9.178	0.68836	D	.	.	0.175	0.38281	B	.	.	2.842919	0.37510	20.5	0.99726396345957902	0.82406	0.22371	0.21724	N	AEFDGBCI	0.147492	0.27118	N	0.0616029661335656	0.44679	2.737484	-0.0217790638378009	0.38732	2.286277	0.999982517269148	0.51787	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.06	4.06	0.46572	1.162000	0.31396	9.695000	0.81285	0.674000	0.70861	0.003000	0.16062	1.000000	0.68203	0.785000	0.37106	0.0:0.1579:0.5358:0.3064	7.163	0.24849	774	0.48577	Laminin G domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.004087	0.000000	0.000000	0.000000	0.003067	0.000000	0.07143	1037.83	34	chr20	62312300	.	G	A	1037.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=281;ExcessHet=0;FS=2.574;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=-0.456;SOR=0.965	GT:AD:DP:GQ:PL	0/1:61,42:103:99:1048,0,1467	6	0	1	0
chr20	62861064	62861072	GCGGCGCGG	-	exonic	TCFL5	.	nonframeshift deletion	TCFL5:NM_001301726:exon1:c.599_607del:p.P200_P202del,TCFL5:NM_006602:exon1:c.599_607del:p.P200_P202del	.	615	902	4	1	0	6	0.00331492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1476188940	0.0001	0.0001	0.0001	0.0002	0.0043	0.0001	0.0001	0.0035	0.0032	0	0	0.0002	0	0	0.0018	4.013e-05	0.0005	0.0043	0.0003	0.0003	0.0001	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	0	0	0.0006	0	0	0	0	0.0001	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	146.79	1	chr20	62861063	.	CGCGGCGCGG	C	146.79	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0;DP=51;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=1.1;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,4:8:99:156,0,156	5	0	1	1
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.6429	21872.1	176	chr21	13610565	.	G	A	21872.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=2.87;DP=1134;ExcessHet=0.4813;FS=0;MLEAC=9;MLEAF=0.643;MQ=53.69;MQRankSum=-9.205;QD=20.58;ReadPosRankSum=0.352;SOR=0.683	GT:AD:DP:GQ:PL	0/1:146,125:271:99:3007,0,3375	1	3	3	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.6429	15864.1	124	chr21	13610631	.	A	G	15864.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-1.282;DP=916;ExcessHet=0.4813;FS=6.707;MLEAC=9;MLEAF=0.643;MQ=47.47;MQRankSum=-13.36;QD=18.64;ReadPosRankSum=0.419;SOR=1.139	GT:AD:DP:GQ:PL	0/1:119,94:213:99:2169,0,2950	1	3	3	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5714	10274.3	66	chr21	13641414	.	A	G	10274.3	.	AC=8;AF=0.571;AN=14;BaseQRankSum=-0.137;DP=637;ExcessHet=0.0509;FS=0.569;MLEAC=8;MLEAF=0.571;MQ=58.12;MQRankSum=-2.171;QD=17.56;ReadPosRankSum=-1.248;SOR=0.616	GT:AD:DP:GQ:PL	0/1:77,61:138:99:1285,0,1812	2	3	2	0
chr21	30337361	30337361	T	A	exonic	KRTAP27-1	.	nonsynonymous SNV	KRTAP27-1:NM_001077711:exon1:c.A308T:p.E103V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00656093475867	0.0005	0.00139776	0.0004	0	0.0009	0	0	0.0006	0.0011	0	0.0004528	70	154602	rs139988725	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0009	0.0012	0.0012	0.0001	0.0009	0	0	0	0	0.0012	0.0006	1.159e-05	0.0007	0.0007	0.0009	0.0006	0.0023	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0023	0	0	0	0	0.0009	0.0024	0	0.158	0.23905	T	0.335	0.18286	T	0.802	0.45105	P	0.432	0.45448	B	0.300700	0.03953	N	1.586570	1	0.08975	N	1.39	0.34934	L	3.95	0.03382	T	-0.58	0.17417	N	0.199	0.21969	-0.9354	0.43333	T	0.009	0.03011	T	10	0.0055468082	0.00123	T	0.006561	0.17301	T	0.018	0.03083	.	.	0.137902524267	0.13322	0.1011675000391786	0.10047	0.0641064311591	0.07144	0.220100522041	0.01316	T	7.51E-4	0.00354	T	-0.589534	0.00169	T	-0.693715	0.06176	T	0.0293162453344729	0.01885	T	0.349665	0.07767	T	0.065674804	0.14060	0.04963609	0.07625	0.065674804	0.14060	0.04963609	0.07624	-3.335	0.14193	T	.	.	0.135	0.29283	B	.	.	2.407263	0.30938	18.59	0.977313557923288	0.35622	0.01609	0.05211	N	AEFBI	0.028458	0.02510	N	-0.746872539681153	0.14719	0.7355651	-0.908737465994183	0.11888	0.6083715	0.928231925456003	0.26921	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	-1.22	0.09005	-0.504000	0.06456	-0.041000	0.12668	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.3339:0.0:0.6661	8.098	0.29999	214	0.91692	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	2674.34	34	chr21	30337361	.	T	A	2674.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.584;DP=324;ExcessHet=0.3476;FS=1.836;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.94;ReadPosRankSum=1.07;SOR=0.563	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,48:99:99:0|1:30337361_T_A:1739,0,1957:30337361	5	0	2	0
chr21	33252732	33252732	C	G	exonic	IFNAR2	.	nonsynonymous SNV	IFNAR2:NM_000874:exon7:c.C611G:p.T204R,IFNAR2:NM_001289125:exon7:c.C611G:p.T204R,IFNAR2:NM_001289126:exon7:c.C611G:p.T204R,IFNAR2:NM_001289128:exon7:c.C611G:p.T204R,IFNAR2:NM_001385054:exon7:c.C611G:p.T204R,IFNAR2:NM_001385055:exon7:c.C611G:p.T204R,IFNAR2:NM_207584:exon7:c.C611G:p.T204R,IFNAR2:NM_207585:exon7:c.C611G:p.T204R	.	2	1414	97	9	0	115	0.0390758	.	.	.	705659	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0028	0.00479233	0.0051	0.0009	0.0036	0	0.0003	0.0050	0.0110	0.0136	0.0046701	722	154602	rs147496374	0.0035	0.0035	0.0030	0.0040	0.0392	0.0034	0.0034	0.0350	0.0334	0.0010	0.0036	0.0165	0	0.0002	0.0392	0.0025	0.0057	0.0130	0.0039	0.0039	0.0037	0.0041	0.0149	0.0036	0.0035	0.0121	0.0111	0.0005	0.0482	0.0054	0.0190	0	0.0002	0.0753	0.0039	0.0085	0.0149	0.161	0.78490	T	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.425033	0.12822	N	0.738962	0.97282	0.38976	D	2.08	0.57402	M	1.31	0.35405	T	-3.11	0.73267	D	0.477	0.53884	-0.9382	0.42900	T	0.135	0.44875	T	10	0.010730058	0.00238	T	.	.	.	0.300	0.62068	.	.	0.764019764511	0.76186	0.7268006199058705	0.72624	0.299378326129	0.32306	0.459942519665	0.33302	T	0.265189	0.63704	T	-0.383608	0.02956	T	-0.312772	0.43360	T	0.0354205092465154	0.02880	T	0.816118	0.47523	T	0.28101838	0.51146	0.3051472	0.56542	0.29832277	0.52754	0.2683962	0.52706	-5.982	0.54933	T	.	.	0.147	0.43200	B	.;.;.;.;.;.	.;.;.;.;.;.	3.085038	0.41513	21.4	0.99482664130514209	0.66959	0.67555	0.33475	D	AEFBI	0.133793	0.25357	N	0.350668498744144	0.58776	4.051906	0.277183829879017	0.54211	3.586691	0.962429835307799	0.28622	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.13	3.23	0.36150	0.371000	0.20182	2.599000	0.33511	0.599000	0.40250	0.990000	0.36992	0.991000	0.31484	0.983000	0.59808	0.0:0.7603:0.2397:0.0	9.699	0.39341	917	0.20147	.;.;Interferon/interleukin receptor domain;.;Interferon/interleukin receptor domain;Interferon/interleukin receptor domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.040282	0.015152	0.033967	0.061404	0.100000	0.094828	0.033537	0.037879	0.1429	884.24	33	chr21	33252732	.	C	G	884.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.577;DP=290;ExcessHet=0.3476;FS=2.315;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=6.85;ReadPosRankSum=0.79;SOR=0.679	GT:AD:DP:GQ:PL	0/1:62,33:95:99:632,0,1352	5	0	2	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	310.05	40	chr21	41918930	.	C	G	310.05	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-3.437;DP=383;ExcessHet=1.1394;FS=141.994;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.813;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,8:81:20:0|1:41918930_C_G:20,0,2944:41918930	1	0	3	3
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	336.45	40	chr21	41918931	.	C	G	336.45	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-2.787;DP=380;ExcessHet=1.1394;FS=145.649;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.618;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,8:81:20:0|1:41918930_C_G:20,0,2944:41918930	1	0	3	3
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	324.25	46	chr21	41918933	.	C	G	324.25	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-3.215;DP=390;ExcessHet=1.1394;FS=127.511;MLEAC=4;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=0.646;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,8:81:20:0|1:41918930_C_G:20,0,2944:41918930	2	0	3	2
chr21	41918935	41918935	C	T	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53A:p.R18K,C2CD2:NM_015500:exon4:c.G518A:p.R173K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00359601692473	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1386150948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.08359	T	0.824	0.03783	T	0.006	0.13644	B	0.003	0.08700	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.97	0.22067	T	-0.97	0.25770	N	0.104	0.11483	-0.9676	0.37693	T	0.029	0.12453	T	10	0.038707197	0.02307	T	0.003596	0.08216	T	0.021	0.04004	0.329	0.31357	0.206339911435	0.20273	0.2555764771231582	0.25471	0.271759973214	0.29688	0.306375771761	0.11360	T	0.066724	0.33019	T	-0.387639	0.02786	T	-0.625465	0.10761	T	0.0195589058417432	0.00659	T	0.449255	0.12651	T	0.03039478	0.02696	0.03585901	0.02919	0.03039478	0.02695	0.03585901	0.02918	-2.169	0.04452	T	.	.	0.084	0.09772	B	.;.	.;.	0.305913	0.06811	3.337	0.60145959432842899	0.06393	0.56893	0.30234	D	AEFGBCI	0.066391	0.12999	N	-1.29262350574295	0.03763	0.1686914	-1.29128918624558	0.04547	0.2147446	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	263.44	46	chr21	41918935	.	C	T	263.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-3.211;DP=306;ExcessHet=0.3476;FS=91.04;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=2.12;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,8:80:23:0|1:41918930_C_G:23,0,2902:41918930	5	0	2	0
chr21	42111458	42111458	A	G	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.A2020G:p.S674G,UMODL1:NM_173568:exon11:c.A2236G:p.S746G	.	415	1101	6	0	0	6	0.00271739	.	.	.	3632681	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0116765166541	0.0011	0.000399361	0.0012	0.0004	0.0007	0	0.0023	0.0015	0.0011	0.0007	0.0011837	183	154602	rs200915652	0.0018	0.0018	0.0018	0.0017	0.0196	0.0017	0.0017	0.0167	0.0156	0.0011	0.0006	0.0018	0	0.0022	0.0196	0.0018	0.0020	0.0007	0.0012	0.0012	0.0013	0.0012	0.0019	0.0011	0.0010	0.0016	0.0015	0.0004	0	0.0005	0.0017	0	0.0018	0.0136	0.0019	0	0.0006	0.691	0.04302	T	0.321	0.19073	T	0.0	0.02946	B	0.002	0.06944	B	0.975513	0.07807	N	1.014940	1	0.08975	N	.	.	.	-0.6	0.71662	T	-0.25	0.11008	N	0.087	0.06454	-0.9946	0.31405	T	0.166	0.50389	T	10	0.004970312	0.00107	T	0.011677	0.29546	T	0.165	0.42395	.	.	0.0482279557977	0.04254	0.08627613683814239	0.08561	0.182222055914	0.20484	0.246062964201	0.03365	T	.	.	.	-0.624808	0.00103	T	-0.689285	0.06430	T	0.00495938468737133	0.00053	T	0.29517	0.05454	T	.	.	.	.	.	.	.	.	-3.933	0.22798	T	.	.	0.089	0.15654	B	.;.	.;.	0.205694	0.05897	2.339	0.78038125515892087	0.12129	0.00797	0.03252	N	AEFDBHCI	0.036180	0.04777	N	-1.32155953967266	0.03429	0.1531683	-1.39449599085941	0.03310	0.1541566	0.999839050104752	0.43792	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.72	-4.98	0.02794	-1.146000	0.03302	-0.430000	0.09227	0.651000	0.53179	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.1894:0.0:0.8106:0.0	15.092	0.71871	981	0.03995	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014602	0.005051	0.010870	0.049708	0.000000	0.034483	0.000000	0.000000	0.07143	1519.45	50	chr21	42111458	.	A	G	1519.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.274;DP=582;ExcessHet=0;FS=4.251;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=2.3;SOR=0.425	GT:AD:DP:GQ:PL	0/1:55,72:127:99:1530,0,2004	6	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6171.01	33	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	6171.01	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.365;DP=1211;ExcessHet=0.0921;FS=0;MLEAC=3;MLEAF=0.214;MQ=59.97;MQRankSum=-0.972;QD=6.53;ReadPosRankSum=1.58;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,193:383:99:0|1:44637705_GCC_*:7459,0,7106:44637705	5	1	1	0
chr21	45185015	45185015	G	A	exonic	ADARB1	.	nonsynonymous SNV	ADARB1:NM_001112:exon8:c.G1489A:p.A497T,ADARB1:NM_001160230:exon8:c.G1489A:p.A497T,ADARB1:NM_001346687:exon8:c.G1756A:p.A586T,ADARB1:NM_001346688:exon8:c.G1489A:p.A497T,ADARB1:NM_015833:exon9:c.G1609A:p.A537T,ADARB1:NM_015834:exon9:c.G1609A:p.A537T	.	.	.	.	.	.	.	.	.	.	.	3660291	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.0646460613144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.722e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.17183	T	0.424	0.15988	T	0.0	0.07471	B	0.009	0.14300	B	0.000022	0.55875	D	0.152428	0.975461	0.39191	D	0.65	0.16133	N	-3.23	0.93414	D	-0.3	0.11913	N	0.06	0.06454	-0.1616	0.78631	T	0.576	0.84716	D	10	0.14164609	0.26911	T	0.064646	0.69339	D	0.309	0.63055	0.544	0.65731	0.499560901647	0.49592	0.19601277324039024	0.19518	.	.	0.53509169817	0.43751	T	0.268529	0.64065	T	-0.0348019	0.46717	T	-0.287767	0.46004	T	0.742333471775055	0.42863	D	0.89791	0.64723	D	0.1109181	0.26213	0.083515376	0.19145	0.1109181	0.26213	0.083515376	0.19145	-1.921	0.06025	T	0.09116784109446203	0.05756	0.079	0.07650	B	.;.;.;.;.	.;.;.;.;.	2.913688	0.38653	20.8	0.98978099348672122	0.49680	0.71588	0.35078	D	AEFGBI	0.139711	0.26140	N	-0.250997271804417	0.31064	1.738155	-0.0879636658384562	0.35886	2.081591	0.977940562244576	0.29871	0.706298	0.61202	0	0.546412	0.12157	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.42	4.52	0.54797	4.383000	0.59366	6.223000	0.55146	0.671000	0.69459	0.993000	0.37899	1.000000	0.68203	0.727000	0.35000	0.1683:0.0:0.8317:0.0	8.912	0.34720	934	0.15400	Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase;.;.;.;Adenosine deaminase/editase|Adenosine deaminase/editase|Adenosine deaminase/editase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	829.49	41	chr21	45185015	.	G	A	829.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.045;DP=249;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=2.26;SOR=0.693	GT:AD:DP:GQ:PL	0/1:28,36:64:99:840,0,604	6	0	1	0
chr22	16966244	16966244	C	T	exonic	GAB4	.	nonsynonymous SNV	GAB4:NM_001366857:exon4:c.G685A:p.V229I,GAB4:NM_001037814:exon6:c.G1144A:p.V382I	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00189560681487	.	.	8.298e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs777440566	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.16358	T	0.43	0.13713	T	0.141	0.27581	B	0.019	0.18783	B	0.010065	0.30079	N	0.346228	0.999081	0.21640	N	1.67	0.42885	L	2.31	0.16794	T	-0.32	0.12283	N	0.091	0.06990	-1.0099	0.26949	T	0.024	0.10058	T	10	0.20420164	0.36603	T	0.001896	0.03325	T	0.021	0.04004	0.39	0.41279	0.448000600372	0.44423	0.04008620061648514	0.03954	0.0283905594338	0.02914	0.333892077208	0.15521	T	0.00215	0.01556	T	-0.382026	0.03025	T	-0.689676	0.06407	T	0.0767261078144613	0.09563	T	0.294271	0.05429	T	0.020769233	0.00649	0.024109995	0.00427	0.020769233	0.00648	0.024109995	0.00427	-4.146	0.25966	T	.	.	0.086	0.10497	B	.;.	.;.	1.260699	0.16584	12.63	0.92662570904413866	0.22143	0.58828	0.30748	D	AEFDBI	0.117519	0.23018	N	-0.514090158956886	0.21623	1.148939	-0.460560088733037	0.23249	1.266931	2.53565979742716E-4	0.06190	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.96	1.75	0.23707	2.085000	0.41258	1.743000	0.28415	-0.640000	0.04453	0.997000	0.40164	0.923000	0.28366	0.003000	0.05239	0.0:0.7741:0.2259:0.0	9.210	0.36470	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	884.49	38	chr22	16966244	.	C	T	884.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.021;DP=277;ExcessHet=0;FS=1.619;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.67;ReadPosRankSum=0.184;SOR=0.877	GT:AD:DP:GQ:PL	0/1:61,41:102:99:895,0,1461	6	0	1	0
chr22	17119423	17119423	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G1705A:p.V569I,TMEM121B:NM_001163079:exon2:c.G640A:p.V214I	.	429	1061	32	0	0	32	0.0148561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	0.0022	0.00758786	0.0108	0.0005	0.0036	0.0101	0.0067	0.0077	0.0091	0.0319	0.0062483	966	154602	rs149370082	0.0049	0.0049	0.0042	0.0056	0.0258	0.0048	0.0048	0.0249	0.0245	0.0007	0.0022	0.0032	0.0148	0.0033	0.0185	0.0032	0.0059	0.0258	0.0037	0.0037	0.0033	0.0041	0.0216	0.0035	0.0034	0.0182	0.0169	0.0006	0	0.0034	0.0029	0.0068	0.0041	0.0272	0.0040	0.0099	0.0216	0.02	0.49613	D	0.06	0.63918	T	0.911	0.50336	P	0.562	0.49608	P	0.001714	0.38216	U	0.102509	0.999895	0.50595	D	.	.	.	.	.	.	-0.85	0.23156	N	0.35	0.39153	-0.8482	0.52093	T	0.112	0.40168	T	9	0.008572459	0.00194	T	.	.	.	0.119	0.33137	.	.	0.104622674875	0.10061	0.7604217329728664	0.75990	.	.	0.522731900215	0.42011	T	0.047421	0.27718	T	-0.327575	0.06297	T	-0.223718	0.52378	T	0.0359863368657486	0.02978	T	0.79582	0.43907	T	0.12873021	0.30087	0.100857474	0.24128	0.12873021	0.30087	0.100857474	0.24127	-3.944	0.28872	T	.	.	0.166	0.44872	B	.;.	.;.	3.672644	0.52235	23.2	0.9957284842646853	0.72501	0.86897	0.46282	D	AEFBCI	0.761208	0.69899	D	0.372332812103338	0.59927	4.17648	0.397399947182225	0.61403	4.340084	0.999999999999899	0.74766	0.656854	0.48797	0	0.588066	0.40923	0	0.67347	0.61138	0	0.620976	0.48614	0	.	.	4.26	4.26	0.49832	5.151000	0.64720	5.885000	0.50690	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	0.0:1.0:0.0:0.0	16.210	0.81968	994	0.00715	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017120	0.015152	0.012228	0.017544	0.000000	0.025862	0.015244	0.018939	0.07143	1048.53	33	chr22	17119423	.	C	T	1048.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.25;DP=274;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=-0.286;SOR=0.698	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1059,0,1118	6	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.75	15434.7	140	chr22	18925165	.	A	G	15434.7	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-0.473;DP=843;ExcessHet=1.383;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=18.92;ReadPosRankSum=-0.984;SOR=0.686	GT:AD:DP:GQ:PL	1/1:0,152:152:99:4349,456,0	0	3	3	1
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3049.25	65	chr22	23311788	.	T	TCCGG	3049.25	.	AC=6;AF=0.429;AN=14;BaseQRankSum=1.91;DP=565;ExcessHet=8.2628;FS=21.365;MLEAC=6;MLEAF=0.429;MQ=55.55;MQRankSum=-7.119;QD=5.72;ReadPosRankSum=1.15;SOR=1.923	GT:AD:DP:GQ:PL	0/1:76,17:93:99:465,0,3112	1	0	6	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	724.04	81	chr22	23311830	.	G	A	724.04	.	AC=4;AF=0.286;AN=14;BaseQRankSum=4.03;DP=501;ExcessHet=2.5225;FS=34.125;MLEAC=4;MLEAF=0.286;MQ=57.74;MQRankSum=-9.243;QD=2.4;ReadPosRankSum=-2.988;SOR=3.372	GT:AD:DP:GQ:PL	0/1:74,9:83:71:71,0,1885	3	0	4	0
chr22	28745874	28745874	A	G	exonic	HSCB	.	nonsynonymous SNV	HSCB:NM_172002:exon4:c.A434G:p.H145R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0023889506969	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185839120	6.859e-07	6.84e-07	0	1.379e-06	2.282e-05	0	0	.	.	0	2.282e-05	0	0	0	0	0	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.602	0.05601	T	0.772	0.04446	T	0.001	0.07471	B	0.0	0.01387	B	0.628410	0.10710	N	0.850945	0.999998	0.20745	N	0.33	0.10399	N	1.02	0.40749	T	-0.74	0.20791	N	0.038	0.01203	-1.0233	0.22638	T	0.056	0.23753	T	10	0.0706929	0.10319	T	0.002389	0.04673	T	0.077	0.22490	0.437	0.48993	0.252681307341	0.24864	0.18303083282286403	0.18222	0.206442923999	0.23069	0.293750345707	0.09472	T	0.023908	0.18164	T	-0.372293	0.03480	T	-0.772549	0.02685	T	0.0188620593216029	0.00597	T	0.422958	0.11265	T	0.074312255	0.16667	0.087314814	0.20287	0.074312255	0.16666	0.087314814	0.20286	-5.364	0.40572	T	.	.	0.055	0.00405	B	.	.	-0.752714	0.01204	0.059	0.70796587802544098	0.09414	0.01337	0.04602	N	AEFBI	0.045258	0.07382	N	-1.38139513502675	0.02812	0.1247369	-1.36614919012764	0.03619	0.1691839	0.999983785571559	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	-6.25	0.01863	-0.602000	0.05776	-2.034000	0.04313	-0.245000	0.07249	0.003000	0.16062	0.000000	0.08366	0.593000	0.31214	0.2782:0.0:0.7218:0.0	17.529	0.87705	441	0.80015	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	1007.44	34	chr22	28745874	.	A	G	1007.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-1.331;DP=236;ExcessHet=0.3476;FS=0.751;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.839;SOR=0.82	GT:AD:DP:GQ:PL	0/1:25,23:48:99:494,0,646	5	0	2	0
chr22	30366082	30366082	G	A	exonic	CCDC157	.	nonsynonymous SNV	CCDC157:NM_001017437:exon3:c.G82A:p.V28I,CCDC157:NM_001318334:exon3:c.G82A:p.V28I,CCDC157:NM_001318335:exon3:c.G82A:p.V28I	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0141185052877	0.0002	.	8.273e-05	0	0	0	0	0.0001	0	6.058e-05	6.47e-05	10	154602	rs368016774	4.182e-05	4.241e-05	4.64e-05	3.72e-05	0.0028	3.318e-05	3.007e-05	0.0017	0.0014	0	2.236e-05	0	0	3.975e-05	0.0028	2.878e-05	9.942e-05	4.637e-05	6.566e-05	6.561e-05	3.855e-05	9.401e-05	0.0001	3.514e-05	2.615e-05	4.766e-05	3.34e-05	2.406e-05	0	0	0.0003	0	0	0.0034	0.0001	0	0	0.093	0.40068	T	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.991652	0.41441	D	2.215	0.62545	M	0.61	0.53516	T	-0.71	0.20145	N	0.179	0.22486	-0.5953	0.65008	T	0.283	0.65468	T	9	0.25547695	0.42941	T	0.014119	0.34021	T	0.157	0.40909	.	.	0.270447802918	0.26645	0.2896293672047166	0.28875	0.0692228764324	0.07746	0.524654746056	0.42282	T	0.020941	0.16396	T	-0.172807	0.24811	T	-0.299465	0.44780	T	0.134574130945683	0.15798	T	0.743826	0.36376	T	0.06278155	0.13149	0.09629504	0.22874	0.06278155	0.13149	0.09629504	0.22873	-4.058	0.24668	T	.	.	0.118	0.34116	B	.;.;.;.;.	.;.;.;.;.	3.039980	0.40753	21.2	0.99753059335246352	0.84460	0.98492	0.83351	D	AEFDBI	0.689480	0.65013	D	0.703303643594976	0.79847	7.165436	0.677825898925095	0.80698	7.35718	0.999999999938381	0.74766	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.36	5.36	0.76624	7.325000	0.78398	7.517000	0.59705	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.328000	0.25156	0.0:0.0:1.0:0.0	17.241	0.86895	305	0.87738	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1414.49	37	chr22	30366082	.	G	A	1414.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.65;DP=313;ExcessHet=0;FS=7.112;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=-0.078;SOR=0.319	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1425,0,1203	6	0	1	0
chr22	32513774	32513774	C	G	exonic	SYN3	.	nonsynonymous SNV	SYN3:NM_001135774:exon14:c.G1658C:p.R553P,SYN3:NM_001369907:exon14:c.G1661C:p.R554P,SYN3:NM_001369908:exon14:c.G1661C:p.R554P,SYN3:NM_001369909:exon14:c.G1658C:p.R553P,SYN3:NM_001369910:exon14:c.G1658C:p.R553P,SYN3:NM_003490:exon14:c.G1661C:p.R554P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0466886162577	0.0002	0.000399361	0.0001	0	0.0002	0	0	0.0002	0.0011	0	0.0001488	23	154602	rs148792587	0.0002	0.0002	0.0003	0.0002	0.0024	0.0002	0.0002	0.0015	0.0012	2.987e-05	0.0002	0	0	0	0.0024	0.0003	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0007	0.0006	4.813e-05	0	0.0011	0	0	0	0	0.0001	0.0009	0	0.002	0.72154	D	0.054	0.53426	T	0.8	0.44988	P	0.476	0.46961	P	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.585	0.39878	L	0.95	0.43279	T	-1.78	0.42001	N	0.451	0.48872	-0.8829	0.49529	T	0.148	0.47469	T	10	0.08215675	0.13530	T	0.046689	0.62573	D	0.158	0.41098	.	.	0.28494636882	0.28116	0.40205090088317225	0.40121	0.915908359792	0.71240	0.360167086124	0.19410	T	0.286641	0.65943	T	-0.121596	0.32861	T	-0.133005	0.60719	T	0.191374108195305	0.19925	T	0.737626	0.36288	T	0.51283574	0.67845	0.5857849	0.75978	0.51283574	0.67846	0.5857849	0.75979	-0.664	0.00694	T	.	.	0.117	0.35890	B	.;.	.;.	4.255745	0.64637	24.7	0.99634064963183711	0.76203	0.93873	0.59438	D	AEFBI	0.828468	0.74755	D	0.244864137220757	0.53385	3.507629	0.239438223703878	0.52051	3.382648	0.999946599906621	0.47345	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.41	4.4	0.52402	2.520000	0.45215	3.201000	0.36751	0.599000	0.40250	0.995000	0.38783	0.998000	0.33993	0.914000	0.44937	0.0:0.9281:0.0:0.0719	14.231	0.65434	615	0.66512	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.1429	2222.44	34	chr22	32513774	.	C	G	2222.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.95;DP=378;ExcessHet=0.3476;FS=0.489;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=1.5;SOR=0.737	GT:AD:DP:GQ:PL	0/1:65,60:125:99:1373,0,1465	5	0	2	0
chr22	36160788	36160788	C	A	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon1:c.G104T:p.G35V	.	416	1076	30	0	0	30	0.0137489	.	.	.	758066	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00399405702194	0.0008	0.00179712	0.0021	9.651e-05	0.0022	0	0.0002	0.0013	0.0011	0.0081	0.001934	299	154602	rs148885226	0.0013	0.0013	0.0011	0.0016	0.0080	0.0013	0.0013	0.0074	0.0072	5.974e-05	0.0021	0.0007	0	0.0002	0.0080	0.0009	0.0016	0.0078	0.0011	0.0011	0.0010	0.0013	0.0081	0.0010	0.0009	0.0061	0.0054	0.0001	0	0.0031	0.0012	0.0002	0	0	0.0010	0.0014	0.0081	0.009	0.57480	D	0.023	0.57104	D	0.808	0.45299	P	0.356	0.43023	B	0.043271	0.01917	U	37.602300	1	0.81001	D	0	0.06538	N	3.31	0.06291	T	-0.27	0.11366	N	0.151	0.15469	-1.0002	0.29860	T	0.011	0.04321	T	10	0.0037358105	0.00069	T	0.003994	0.09462	T	0.077	0.22490	.	.	0.257786959452	0.25393	0.078363107641043	0.07772	0.691787299004	0.60617	0.210936486721	0.00852	T	0.001527	0.00969	T	-0.653267	0.00069	T	-0.707424	0.05429	T	0.0420518779235941	0.04064	T	0.286771	0.05140	T	0.057427566	0.11427	0.082281806	0.18768	0.057427566	0.11427	0.082281806	0.18767	-3.39	0.14922	T	.	.	0.154	0.34071	B	.	.	-0.212215	0.03029	0.463	0.88461662680239472	0.17995	0.05534	0.11427	N	ALL	0.105165	0.21021	N	-1.03137101328716	0.07958	0.3714873	-1.24005897005935	0.05280	0.2511918	0.99999999041564	0.74766	0.428477	0.06694	0	0.374146	0.05931	1	0.547309	0.15389	0	0.607083	0.38531	0	.	.	2.76	-5.08	0.02708	-2.118000	0.01412	-12.434000	0.00525	0.528000	0.24546	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2572:0.6312:0.1116	8.683	0.33384	471	0.78036	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005035	0.000000	0.002717	0.002924	0.000000	0.000000	0.012195	0.007576	0.07143	1426.45	35	chr22	36160788	.	C	A	1426.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.022;DP=341;ExcessHet=0;FS=3.255;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=0.845;SOR=0.804	GT:AD:DP:GQ:PL	0/1:62,62:124:99:1437,0,1446	6	0	1	0
chr22	36227959	36227959	C	T	exonic	APOL2	.	nonsynonymous SNV	APOL2:NM_030882:exon5:c.G459A:p.M153I,APOL2:NM_145637:exon6:c.G459A:p.M153I	.	27	1464	30	1	0	32	0.0108108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00233605697159	0.0009	0.00179712	0.0022	0	0.0005	0	0.0003	0.0016	0.0011	0.0087	0.0020634	319	154602	rs200488207	0.0016	0.0016	0.0013	0.0020	0.0094	0.0016	0.0015	0.0089	0.0087	8.961e-05	0.0010	7.652e-05	0	0.0010	0.0071	0.0012	0.0021	0.0094	0.0010	0.0010	0.0010	0.0011	0.0079	0.0009	0.0008	0.0059	0.0052	0.0002	0	0.0007	0	0	0.0005	0.0034	0.0013	0.0014	0.0079	0.334	0.12961	T	0.559	0.10138	T	.	.	.	.	.	.	0.027806	0.01674	N	2.001260	1	0.08975	N	.	.	.	4.14	0.02839	T	-0.66	0.19085	N	0.046	0.02861	-0.9321	0.43829	T	0.009	0.03011	T	10	0.010323375	0.00230	T	0.002336	0.04507	T	0.023	0.04649	0.485	0.56780	0.0716867268079	0.06686	0.16648136821727322	0.16568	0.101037800964	0.11422	0.28577670455	0.08311	T	9.07E-4	0.00463	T	-0.701736	0.00036	T	-0.774798	0.02614	T	0.0123231575730099	0.00200	T	0.270573	0.04555	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.54064	B	.;.;.	.;.;.	-2.863662	0.00013	0.001	0.54460281740649141	0.05142	0.00572	0.02591	N	AEFGBI	0.036512	0.04877	N	-1.31215000778755	0.03535	0.1580791	-1.42177051027157	0.03035	0.1408186	0.987154519355852	0.31196	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.66	-3.79	0.04037	-2.478000	0.01061	-12.543000	0.00517	-0.447000	0.05153	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4315:0.0:0.5685	8.579	0.32779	619	0.66147	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007049	0.005051	0.008152	0.005848	0.000000	0.000000	0.003049	0.022727	0.07143	1814.44	38	chr22	36227959	.	C	T	1814.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.502;DP=365;ExcessHet=0;FS=4.851;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=1.5;SOR=1.072	GT:AD:DP:GQ:PL	0/1:85,67:152:99:1825,0,2286	6	0	1	0
chr22	37824941	37824941	A	C	exonic	GALR3	.	nonsynonymous SNV	GALR3:NM_003614:exon2:c.A578C:p.Y193S	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.848	0.900799617685	0.0009	0.000798722	0.0033	0.0010	0.0034	0	0.0027	0.0049	0	0.0019	0.0013389	207	154602	rs201769452	0.0033	0.0030	0.0034	0.0032	0.0037	0.0032	0.0032	0.0036	0.0036	0.0006	0.0016	0.0003	0	0.0012	0.0020	0.0037	0.0030	0.0013	0.0024	0.0024	0.0026	0.0021	0.0043	0.0022	0.0021	0.0039	0.0038	0.0006	0	0.0016	0	0	0.0003	0.0069	0.0043	0.0029	0.0006	0.0	0.91255	D	0.002	0.79402	D	0.993	0.65571	D	0.932	0.66722	D	0.000007	0.62929	D	0.066809	1	0.81001	D	3.94	0.96382	H	-0.66	0.72348	T	-7.44	0.94872	D	0.9	0.90025	0.425	0.89467	D	0.552	0.83597	D	10	0.15418747	0.29088	T	0.901	0.99253	D	0.848	0.95286	.	.	0.877067479907	0.87586	0.699669024203502	0.69907	2.35052041495	0.96812	0.943348526955	0.99572	D	0.206421	0.56576	T	-0.0599356	0.42916	T	0.140849	0.79599	D	0.197380697583155	0.20270	T	0.885311	0.61048	D	0.97259593	0.98497	0.966349	0.99297	0.97259593	0.98497	0.966349	0.99297	-13.048	0.89560	D	.	.	0.915	0.83824	P	.	.	5.438531	0.90909	32	0.98940896410409118	0.48940	0.96902	0.71564	D	AEFDBHCI	0.799043	0.72542	D	0.756270114857182	0.83315	7.98485	0.618046032608841	0.76249	6.456585	0.999999999989056	0.74766	0.56387	0.32371	0	0.578056	0.33634	0	0.503968	0.08637	0	0.554799	0.18163	0	.	.	4.36	4.36	0.51643	8.507000	0.90352	8.547000	0.77514	0.560000	0.28382	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	1.0:0.0:0.0:0.0	13.560	0.61246	905	0.23532	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010926	0.000000	0.013850	0.005952	0.050000	0.017857	0.015924	0.008000	0.07143	480.83	24	chr22	37824941	.	A	C	480.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.371;DP=187;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.244;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,19:31:99:0|1:37824941_A_C:491,0,278:37824941	6	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.3571	2310.13	116	chr22	42128812	.	A	G	2310.13	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.178;DP=771;ExcessHet=4.7409;FS=10.746;MLEAC=5;MLEAF=0.357;MQ=51.48;MQRankSum=-5.697;QD=3.19;ReadPosRankSum=-4.081;SOR=1.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,29:155:99:0|1:42128812_A_G:810,0,5203:42128812	2	0	5	0
chr22	42129036	42129036	A	C	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.T502G:p.S168A	.	1	1438	82	1	0	84	0.0283784	.	.	.	2335774	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0374404408606	.	.	5.046e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs1135826	7.432e-05	0.0003	6.98e-05	7.889e-05	0.0014	6.285e-05	5.842e-05	0.0007	0.0005	3.025e-05	6.805e-05	0.0002	0	0	0.0014	4.063e-05	0.0003	0.0003	0.0002	0.0014	0.0001	0.0002	0.0002	0.0001	8.847e-05	0.0001	0.0001	0.0002	0	6.584e-05	0	0	0	0.0034	0.0002	0	0	1.0	0.00964	T	0.807	0.04129	T	.	.	.	.	.	.	0.001903	0.00839	N	3.539820	1	0.08975	N	-0.73	0.01772	N	-1.27	0.79277	T	0.16	0.05217	N	0.128	0.13341	-0.7799	0.56308	T	0.115	0.40740	T	10	0.08526772	0.14379	T	0.03744	0.57615	D	0.226	0.52472	0.373	0.38503	0.298056030225	0.29408	0.21059068015497262	0.20975	0.0911008931681	0.10288	0.420034706593	0.27840	T	7.8E-4	0.03040	T	-0.140885	0.29750	T	-0.440148	0.28791	T	0.0133200469642442	0.00239	T	0.146485	0.01205	T	0.18169317	0.39352	0.08126632	0.18454	0.18169317	0.39351	0.08126632	0.18454	-1.576	0.01927	T	.	.	0.070	0.03625	B	.;.;.;.	.;.;.;.	-0.970736	0.00813	0.027	0.31847947949166644	0.01816	0.00025	0.00253	N	AEFDGBI	0.083503	0.16918	N	-2.07234760809253	0.00147	0.006303923	-1.9906736949729	0.00321	0.01415437	3.76170252761087E-4	0.06745	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-0.285	0.12229	-0.679000	0.05304	-1.696000	0.04897	-2.376000	0.00301	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4003:0.4827:0.0:0.117	4.833	0.12812	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.1429	247.34	48	chr22	42129036	.	A	C	247.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=3.5;DP=469;ExcessHet=0.3476;FS=32.513;MLEAC=2;MLEAF=0.143;MQ=57.82;MQRankSum=-6.27;QD=1.63;ReadPosRankSum=-0.221;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,11:88:99:0|1:42129036_A_C:230,0,3190:42129036	5	0	2	0
chr22	42129037	42129037	G	T	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.C501A:p.H167Q	.	1	1438	82	1	0	84	0.0283784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0114433325274	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1135825	6.054e-05	0.0003	6.431e-05	5.673e-05	0.0016	4.989e-05	4.653e-05	0.0008	0.0006	3.024e-05	4.533e-05	0.0002	0	0	0.0016	3.43e-05	0.0003	0.0001	0.0001	0.0014	0.0001	0.0002	0.0002	9.849e-05	8.347e-05	0.0001	0.0001	0.0002	0	6.569e-05	0	0	0	0.0034	0.0001	0	0	0.613	0.05420	T	0.754	0.06469	T	.	.	.	.	.	.	0.019125	0.01504	N	2.373600	1	0.18612	N	0.105	0.08473	N	-0.24	0.66834	T	-0.26	0.11185	N	0.128	0.12198	-0.9863	0.33518	T	0.097	0.36522	T	10	0.033819586	0.01569	T	0.011443	0.29067	T	0.107	0.30369	0.325	0.30711	0.284150004643	0.28039	0.2862462233970812	0.28537	0.111660899099	0.12603	0.421149164438	0.27995	T	7.32E-4	0.02125	T	-0.147423	0.28716	T	-0.44954	0.27747	T	0.0312476026732281	0.02185	T	0.392161	0.19325	T	0.15265977	0.34644	0.10768169	0.25927	0.15265977	0.34643	0.10768169	0.25927	-4.958	0.36381	T	.	.	0.150	0.33133	B	.;.;.;.	.;.;.;.	-1.649188	0.00217	0.003	0.53561482879806321	0.04964	0.01961	0.05950	N	AEFDGBI	0.236213	0.35870	N	-2.59474423185388	0.00009	0.0004161119	-2.63484367521019	0.00011	0.0004984315	0.599001188279606	0.21710	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	-6.44	0.01749	-3.995000	0.00358	-5.233000	0.01796	-0.839000	0.02805	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3374:0.1501:0.3861:0.1264	2.157	0.03582	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1429	247.34	48	chr22	42129037	.	G	T	247.34	.	AC=2;AF=0.143;AN=14;BaseQRankSum=4.47;DP=464;ExcessHet=0.3476;FS=32.513;MLEAC=2;MLEAF=0.143;MQ=57.75;MQRankSum=-6.27;QD=1.63;ReadPosRankSum=-0.409;SOR=4.971	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,11:88:99:0|1:42129036_A_C:230,0,3190:42129036	5	0	2	0
chr22	42129042	42129042	T	C	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_000106:exon3:c.A496G:p.N166D	.	2	1511	9	0	0	9	0.00296932	.	.	.	656700	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.103	0.0245862742971	.	.	0.0002	0.0002	0.0005	0.0001	0.0005	4.396e-05	0	0.0003	0.00011	17	154602	rs1135824	0.0001	0.0003	0.0001	0.0001	0.0020	0.0001	0.0001	0.0011	0.0008	9.048e-05	0.0003	0.0002	0.0002	0	0.0020	0.0001	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	0.0001	0	0	0	0.0034	0.0002	0	0.0006	1.0	0.00964	T	0.757	0.04754	T	.	.	.	.	.	.	0.474336	0.04944	N	1.380140	1	0.08975	N	0.09	0.08384	N	-0.26	0.67187	T	1.04	0.01332	N	0.143	0.14338	-0.9579	0.39571	T	0.087	0.33857	T	10	0.025670886	0.00754	T	0.024586	0.47577	T	0.103	0.29403	.	.	0.306053231325	0.30222	0.22007910192364	0.21923	0.126638767922	0.14272	0.453449010849	0.32415	T	7.79E-4	0.02566	T	-0.206682	0.19850	T	-0.534661	0.18824	T	0.00440964108990425	0.00047	T	0.0872913	0.00642	T	0.122405104	0.28764	0.09800443	0.23349	0.122405104	0.28764	0.09800443	0.23348	-1.013	0.01014	T	.	.	0.075	0.05447	B	.;.;.;.	.;.;.;.	-0.597925	0.01577	0.105	0.42984243424574509	0.03205	0.00017	0.00201	N	AEFDGBI	0.077864	0.15696	N	-1.5581826313759	0.01487	0.06492825	-1.50083743763418	0.02339	0.1073898	5.92233934160642E-4	0.07414	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.22	2.15	0.26590	-1.954000	0.01616	-1.114000	0.06289	-1.927000	0.00502	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2321:0.6389:0.0:0.1289	3.950	0.08862	106	0.95650	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002134	0.000000	0.000000	0.012397	0.000000	0.000000	0.000000	0.003788	0.07143	183.46	48	chr22	42129042	.	T	C	183.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.684;DP=452;ExcessHet=0;FS=18.64;MLEAC=1;MLEAF=0.071;MQ=57.95;MQRankSum=-7.673;QD=2.16;ReadPosRankSum=-0.203;SOR=3.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,10:85:99:0|1:42129036_A_C:194,0,3119:42129036	6	0	1	0
chr22	43129256	43129256	C	T	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon5:c.C434T:p.A145V	.	415	1090	14	0	3	17	0.00638104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	0.0025	0.00339457	0.0042	0.0011	0.0029	0	0.0005	0.0064	0.0074	0.0018	0.003868	598	154602	rs148407250	0.0049	0.0049	0.0049	0.0049	0.0096	0.0048	0.0048	0.0076	0.0068	0.0009	0.0039	0.0065	0	0.0003	0.0096	0.0056	0.0052	0.0020	0.0038	0.0038	0.0041	0.0036	0.0071	0.0036	0.0035	0.0060	0.0056	0.0008	0	0.0071	0.0096	0.0002	0.0002	0.0069	0.0057	0.0048	0.0013	0.596	0.05703	T	1.0	0.01155	T	0.113	0.26349	B	0.05	0.25278	B	0.145427	0.02919	N	2.124800	0.961926	0.26087	N	0.55	0.14455	N	1.9	0.23486	T	0.96	0.01488	N	0.108	0.09349	-1.0255	0.21919	T	0.024	0.10103	T	10	0.004980862	0.00107	T	.	.	.	0.056	0.15993	.	.	0.202949470691	0.19918	0.009953428289389917	0.00957	0.0336267795191	0.03527	0.306395083666	0.11363	T	0.088783	0.38232	T	-0.611504	0.00124	T	-0.648131	0.09084	T	0.0113428626977373	0.00168	T	0.309269	0.05988	T	0.020216616	0.00573	0.037289545	0.03352	0.020216616	0.00573	0.037289545	0.03352	-3.414	0.15245	T	.	.	0.114	0.22825	B	.	.	1.331438	0.17365	13.12	0.99046876665381955	0.51162	0.00593	0.02656	N	ALL	0.028383	0.02490	N	-0.896321564513598	0.10929	0.5247801	-0.822752233153428	0.13945	0.7260938	0.9999989973616	0.74766	0.495158	0.18159	0	0.519925	0.08708	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.64	3.61	0.40494	-0.124000	0.10571	-0.706000	0.07772	-1.157000	0.01417	0.002000	0.15269	0.001000	0.17328	0.002000	0.04165	0.0:0.1045:0.0:0.8955	7.253	0.25337	809	0.43032	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011593	0.010204	0.006793	0.008772	0.000000	0.035088	0.018293	0.011364	0.08333	569.47	31	chr22	43129256	.	C	T	569.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.413;DP=252;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=2.02;SOR=0.616	GT:AD:DP:GQ:PL	0/1:33,27:60:99:579,0,742	5	0	1	1
chr22	43133441	43133441	G	A	exonic	MCAT	.	nonsynonymous SNV	MCAT:NM_173467:exon4:c.C775T:p.R259C	.	.	.	.	.	.	.	.	.	.	.	2819640	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.524	0.0495367402914	.	.	0.0001	0	0	0.0001	0	9.929e-05	0	0.0003	7.76e-05	12	154602	rs201441121	7.8e-05	7.867e-05	6.944e-05	8.666e-05	0.0007	6.601e-05	6.144e-05	0.0003	0.0003	2.988e-05	2.242e-05	0	2.519e-05	0	0.0007	5.936e-05	8.281e-05	0.0004	8.537e-05	8.53e-05	0.0001	6.714e-05	0.0002	4.954e-05	3.96e-05	2.846e-05	1.858e-05	2.406e-05	0	0	0	0.0002	0	0	7.349e-05	0.0028	0	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	0.83	0.47815	T	-6.04	0.89759	D	0.804	0.79986	0.094	0.84066	D	0.416	0.76292	T	10	0.84816873	0.83987	D	0.049537	0.63854	D	0.524	0.79825	0.707	0.84327	0.801681314988	0.79982	0.7885807167013701	0.78810	1.1864892588	0.80157	0.55296933651	0.46276	T	0.567607	0.85630	D	0.0426068	0.57386	T	0.129402	0.78852	D	0.900480985641479	0.55301	D	0.921408	0.71494	D	0.79520047	0.83601	0.62426895	0.78102	0.79520047	0.83602	0.62426895	0.78103	-13.171	0.90055	D	.	.	0.257	0.49127	B	.	.	5.468095	0.91244	32	0.99924372900653191	0.98980	0.92265	0.55315	D	AEFDBCIJ	0.557417	0.56705	D	0.743290230822003	0.82468	7.769793	0.604279741728135	0.75249	6.27748	0.999951940957524	0.48110	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.26	4.14	0.47821	3.109000	0.50037	9.321000	0.80045	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.690000	0.33838	0.0:0.0:0.8177:0.1823	15.287	0.73537	809	0.43032	Acyl transferase|Polyketide synthase, acyl transferase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	569.46	36	chr22	43133441	.	G	A	569.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.094;DP=267;ExcessHet=0;FS=1.052;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.76;ReadPosRankSum=-1.027;SOR=0.513	GT:AD:DP:GQ:PL	0/1:41,24:65:99:580,0,1143	6	0	1	0
chr22	50210679	50210679	C	A	exonic	SELENOO	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.804	0.79986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160842	0.70278	D	-0.00673841	0.69897	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	3.659087	0.51976	23.2	0.95266441394167389	0.26542	0.22436	0.21746	N	AEFGBHCI	0.187828	0.31511	N	-0.702361567269495	0.15955	0.8087009	-1.10616391139575	0.07582	0.3693576	0.999994964640349	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.82	-7.43	0.01238	-1.097000	0.03460	-4.214000	0.02277	-1.776000	0.00658	0.001000	0.13787	0.000000	0.08366	0.027000	0.12703	0.0:0.2363:0.0:0.7637	17.878	0.88744	684	0.59539	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	815.49	34	chr22	50210679	.	C	A	815.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.54;DP=267;ExcessHet=0;FS=1.838;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.715;SOR=0.479	GT:AD:DP:GQ:PL	0/1:48,35:83:99:826,0,1128	6	0	1	0
chr22	50288760	50288760	C	T	exonic	PLXNB2	.	nonsynonymous SNV	PLXNB2:NM_001376869:exon4:c.G1363A:p.A455T,PLXNB2:NM_001376875:exon4:c.G1363A:p.A455T,PLXNB2:NM_001376878:exon4:c.G1363A:p.A455T,PLXNB2:NM_001376884:exon4:c.G1363A:p.A455T,PLXNB2:NM_001376864:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376865:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376866:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376870:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376871:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376880:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376882:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376883:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376885:exon5:c.G1363A:p.A455T,PLXNB2:NM_012401:exon5:c.G1363A:p.A455T,PLXNB2:NM_001376867:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376868:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376873:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376874:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376876:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376877:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376881:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376886:exon6:c.G1363A:p.A455T,PLXNB2:NM_001376872:exon7:c.G1363A:p.A455T,PLXNB2:NM_001376879:exon7:c.G1363A:p.A455T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0113248412549	.	.	0.0002	0	0.0017	0	0	7.657e-05	0	0	0.0001552	24	154602	rs772909474	9.105e-05	9.098e-05	9.672e-05	8.532e-05	0.0008	7.829e-05	7.311e-05	0.0006	0.0005	0	0.0008	0	0	0	0.0002	8.004e-05	8.282e-05	1.159e-05	5.913e-05	5.91e-05	8.992e-05	2.69e-05	0.0003	3.077e-05	2.21e-05	8.877e-05	5.386e-05	0	0	0.0003	0	0	0	0	5.88e-05	0	0.0002	0.028	0.46129	D	0.015	0.61642	D	0.318	0.32936	B	0.075	0.28327	B	0.092889	0.20251	N	0.413978	0.619459	0.30792	N	1.67	0.42885	L	3.54	0.04799	T	-0.57	0.17210	N	0.434	0.47301	-1.0909	0.05383	T	0.017	0.06807	T	10	0.045281947	0.03580	T	0.011325	0.28825	T	0.090	0.26093	.	.	0.321115633427	0.31720	0.7808267704943909	0.78033	0.314150516404	0.33697	0.419968396425	0.27832	T	0.125838	0.45182	T	-0.399071	0.02348	T	-0.43875	0.28949	T	0.0661035394525771	0.08093	T	0.660434	0.28269	T	0.04816572	0.08350	0.07723845	0.17185	0.04816572	0.08349	0.07723845	0.17185	-6.206	0.47972	T	.	.	0.112	0.33296	B	.;.;.	.;.;.	3.441471	0.47879	22.5	0.99772139275178973	0.86003	0.81282	0.40718	D	AEFBI	0.110701	0.21943	N	-0.0855686567833177	0.38026	2.220857	0.0168184184884092	0.40496	2.417676	0.999260921278648	0.38940	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.72	3.62	0.40616	1.554000	0.35873	1.636000	0.27766	-0.178000	0.10482	0.984000	0.35821	0.899000	0.27943	0.407000	0.26939	0.1801:0.8199:0.0:0.0	11.401	0.49114	633	0.64743	Sema domain;Sema domain;Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1300.53	39	chr22	50288760	.	C	T	1300.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.213;DP=282;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.521;SOR=0.76	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1311,0,1209	6	0	1	0
chr22	50546362	50546362	C	T	exonic	KLHDC7B	.	nonsynonymous SNV	KLHDC7B:NM_138433:exon1:c.C119T:p.A40V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs187625614	4.045e-06	2.067e-05	0	7.97e-06	6.311e-06	0	0	.	.	0	0	0	0	0	0	6.311e-06	0	0	3.285e-05	3.283e-05	5.138e-05	1.345e-05	9.647e-05	1.261e-05	7.98e-06	3.248e-05	1.914e-05	9.647e-05	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15561035	0.29325	T	.	.	.	.	.	.	.	.	.	0.1110501452114271	0.11034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310869	0.06046	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263	0.49797	B	.	.	3.571776	0.50313	22.9	0.9360700992547023	0.23467	0.18639	0.20342	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999999999885938	0.74766	0.095506	0.02484	0	0.09434	0.02614	0	0.074216	0.02223	0	0.109499	0.03221	0	0.981966	0.87989	5.13	5.13	0.69729	0.345000	0.19720	2.526000	0.33144	0.599000	0.40250	0.037000	0.20830	0.990000	0.31317	0.853000	0.40368	0.0:1.0:0.0:0.0	13.938	0.63547	584	0.69381	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	32.33	.	chr22	50546362	.	C	T	32.33	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=16;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:24:40,0,24	4	0	1	2
chrX	8466126	8466215	GAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	-	exonic	VCX3B	.	nonframeshift deletion	VCX3B:NM_001001888:exon3:c.484_573del:p.E169_S198del	.	573	905	12	5	27	49	0.0120087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.0099	0.0021	0.0061	0.0003	0.0005	0	0.0013	3.84e-05	1	26028	.	0.0037	0.0043	0.0046	0.0012	0.0412	0.0036	0.0036	0.0387	0.0377	0.0127	0.0412	0.0042	0.0227	0.0085	0.0074	0.0016	0.0073	0.0067	0.0085	0.0086	0.0103	0.0001	0.0528	0.0077	0.0074	0.0384	0.0335	0.0377	0	0.0279	0.0007	0.0528	0.0031	0	0.0034	0.0021	0.0064	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2198.08	4	chrX	8466125	.	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	2198.08	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.6;DP=334;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=40.09;MQRankSum=0.911;QD=26.17;ReadPosRankSum=0.677;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:9,71:80:25:.:.:2217,25,0:.	6	1	0	0
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3405.84	4	chrX	8466215	.	A	*	3405.84	.	AC=4;AF=0.333;AN=12;BaseQRankSum=2.63;DP=511;ExcessHet=0.1336;FS=18.519;MLEAC=4;MLEAF=0.333;MQ=43.11;MQRankSum=-0.368;QD=9.06;ReadPosRankSum=0.255;SOR=1.351	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:9,71:80:25:.:.:2217,25,0:.	4	2	0	1
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1454.59	107	chrX	10469688	.	G	A	1454.59	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-3.944;DP=533;ExcessHet=2.5225;FS=171.116;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=3.13;ReadPosRankSum=0.953;SOR=9.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,31:134:99:0|1:10469688_G_A:453,0,3459:10469688	3	0	4	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	1325.05	107	chrX	10469690	.	T	C	1325.05	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-3.2;DP=534;ExcessHet=1.1394;FS=164.992;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=0.784;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,31:136:99:0|1:10469688_G_A:447,0,3528:10469688	4	0	3	0
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G,MID1:NM_001193280:exon6:c.A1175G:p.E392G,MID1:NM_001193278:exon7:c.A1442G:p.E481G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	659.6	107	chrX	10469693	.	T	C	659.6	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-4.447;DP=534;ExcessHet=2.5225;FS=147.291;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.711;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,31:132:99:0|1:10469688_G_A:458,0,3445:10469688	3	0	4	0
chrX	14912325	14912325	C	G	exonic	MOSPD2	.	nonsynonymous SNV	MOSPD2:NM_001177475:exon9:c.C767G:p.P256R,MOSPD2:NM_001330241:exon10:c.C956G:p.P319R,MOSPD2:NM_152581:exon10:c.C956G:p.P319R	.	453	1066	3	0	0	3	0.00140515	.	.	.	2681165	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.136	0.489540887365	0.0002	0.000264901	0.0001	0	0	0	0	0.0003	0	0	0.0001746	27	154602	rs145104885	0.0001	0.0001	0.0001	0.0001	0.0013	0.0001	0.0001	0.0005	0.0003	0	0	5.439e-05	0	0	0.0013	0.0001	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	9.274e-05	0.0001	0.0001	6.531e-05	0	0.0002	0	0	0	0	0.0002	0.0013	0	0.011	0.55530	D	0.025	0.56192	D	0.956	0.54666	P	0.709	0.54472	P	0.000042	0.53742	D	0.162713	0.991086	0.41304	D	2.085	0.57729	M	-0.04	0.63240	T	-1.56	0.37759	N	0.113	0.10056	-0.5269	0.67658	T	0.296	0.66726	T	10	0.12258494	0.23257	T	0.489541	0.94976	D	0.136	0.36778	.	.	0.47098275866	0.46727	0.4674475192073569	0.46663	0.875595741049	0.69555	0.497725009918	0.38510	T	0.049276	0.40348	T	-0.326507	0.06379	T	-0.413294	0.31845	T	0.181901119675531	0.19355	T	0.90471	0.66491	D	0.6607643	0.75940	0.46714616	0.69086	0.6607643	0.75941	0.46714616	0.69086	-6.695	0.51773	T	.	.	0.403	0.63262	A	.;.;.	.;.;.	4.019422	0.59351	24.1	0.99798081340850342	0.88283	0.98016	0.78896	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999973793293776	0.50053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6	4.75	0.59954	6.105000	0.71165	5.824000	0.50107	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9209:0.0:0.0791	13.299	0.59746	98	0.95963	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.001376	0.000000	0.001855	0.000000	0.000000	0.011765	0.000000	0.000000	0.07143	810.49	26	chrX	14912325	.	C	G	810.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.365;DP=216;ExcessHet=0;FS=6.011;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=0.59;SOR=0.858	GT:AD:DP:GQ:PL	0/1:35,40:75:99:821,0,851	6	0	1	0
chrX	40659236	40659236	C	G	exonic	MED14	.	nonsynonymous SNV	MED14:NM_004229:exon28:c.G3963C:p.K1321N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.390	0.17489678043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.112e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.895	0.49247	P	0.452	0.46163	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.495	0.37439	L	.	.	.	-2.46	0.67477	N	0.728	0.72925	-0.9858	0.33639	T	0.121	0.42079	T	9	0.45023692	0.58652	T	0.174897	0.85114	D	0.390	0.70603	0.391	0.41443	0.65440912122	0.65152	0.8579709212488796	0.85760	2.13339230401	0.95189	0.920231461525	0.98341	D	0.282649	0.65539	T	0.0206146	0.54464	T	-0.208165	0.53871	T	0.937414467334747	0.60718	D	0.971903	0.89805	D	0.74301934	0.80465	0.57960075	0.75634	0.74301934	0.80467	0.57960075	0.75635	-4.488	0.30731	T	.	.	0.939	0.91004	P	.;.;.	.;.;.	3.095469	0.41698	21.4	0.99746837329826044	0.83927	0.88740	0.48813	D	AEFBI	.	.	.	.	.	.	.	.	.	0.653678985306803	0.22192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.35	0.625	0.16838	0.563000	0.23250	0.590000	0.19811	0.599000	0.40250	0.998000	0.41325	0.999000	0.35428	1.000000	0.97212	0.0:0.4794:0.0:0.5206	9.651	0.39059	768	0.49510	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	93.77	35	chrX	40659236	.	C	G	93.77	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.591;DP=581;ExcessHet=1.1394;FS=178.225;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.678;SOR=10.021	GT:AD:DP:GQ:PL	0/1:100,46:166:90:90,0,1148	4	0	3	0
chrX	47370706	47370706	C	T	exonic	ZNF157	.	nonsynonymous SNV	ZNF157:NM_003446:exon1:c.C38T:p.A13V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00288594737523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.831e-06	1.821e-06	1.364e-06	2.783e-06	3.776e-05	3e-07	1.1e-07	6.26e-06	2.34e-06	0	0	0	0	0	0	0	0	3.776e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27080	T	0.284	0.21411	T	0.084	0.24799	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	3.16	0.07711	T	-0.76	0.21215	N	0.103	0.08646	-0.9402	0.42584	T	0.015	0.06042	T	9	0.09545007	0.17048	T	0.002886	0.06074	T	0.014	0.01968	0.282	0.23801	0.697148158025	0.69453	0.43151347827604164	0.43068	0.0272404351771	0.02780	0.717023551464	0.69613	T	0.028885	0.20821	T	-0.419245	0.01729	T	-0.839993	0.01098	T	0.0670272409915924	0.08227	T	0.253475	0.03884	T	0.09319971	0.21883	0.13030869	0.31314	0.09319971	0.21883	0.13030869	0.31313	-4.07	0.24846	T	.	.	0.097	0.15921	B	.	.	0.606635	0.09749	6.518	0.98835202497810026	0.47018	0.01572	0.05130	N	AEFBI	.	.	.	.	.	.	.	.	.	0.021226936098994	0.13330	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.29	2.41	0.28644	0.256000	0.18120	0.373000	0.17698	0.594000	0.32500	0.006000	0.17386	0.000000	0.08366	0.026000	0.12556	0.0:0.7421:0.2579:0.0	7.609	0.27286	556	0.71678	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	914.52	20	chrX	47370706	.	C	T	914.52	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.153;DP=118;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=21.77;ReadPosRankSum=0.769;SOR=0.516	GT:AD:DP:GQ:PL	0/1:7,16:23:99:390,0,154	5	1	1	0
chrX	47624357	47624357	T	C	exonic	CFP	.	nonsynonymous SNV	CFP:NM_001145252:exon9:c.A1328G:p.Q443R,CFP:NM_002621:exon10:c.A1328G:p.Q443R	Properdin deficiency, X-linked, X-linked recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.208463659086	.	.	3.419e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs765506323	2.277e-05	2.276e-05	1.361e-05	4.131e-05	0.0005	1.563e-05	1.321e-05	0.0002	0.0002	0	0	0	0	0	0.0005	2.376e-06	6.51e-05	0.0003	9.14e-06	8.713e-06	0	3.161e-05	0.0004	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.094	0.31383	T	0.089	0.40426	T	0.922	0.51142	P	0.737	0.55577	P	0.000384	0.44960	D	0.199169	0.690962	0.30191	N	2.77	0.80896	M	1.01	0.41058	T	-0.86	0.23372	N	0.079	0.05542	-0.7123	0.59839	T	0.184	0.53209	T	10	0.20570028	0.36805	T	0.208464	0.87148	D	0.131	0.35738	0.213	0.13210	0.161926535498	0.15789	0.8119961574407116	0.81155	1.32521454968	0.83545	0.416357636452	0.27336	T	0.162	0.50619	T	-0.401227	0.02273	T	-0.529398	0.19346	T	0.49982351064682	0.32622	T	0.650635	0.26150	T	0.33636817	0.55989	0.22174941	0.46996	0.33636817	0.55989	0.22174941	0.46995	-3.483	0.16195	T	0.6340147266199567	0.70379	0.091	0.12891	B	.;.	.;.	3.355123	0.46298	22.3	0.98718912238097489	0.45171	0.64613	0.32464	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999953113018	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.54	5.54	0.82907	3.090000	0.49888	7.830000	0.70079	0.661000	0.55757	0.998000	0.41325	1.000000	0.68203	0.213000	0.22268	0.0:0.0:0.0:1.0	11.122	0.47518	628	0.65206	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	5527.71	35	chrX	47624357	.	T	C	5527.71	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.225;DP=442;ExcessHet=0;FS=1.016;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=0.565;SOR=0.784	GT:AD:DP:GQ:PL	0/1:79,113:192:99:2719,0,1830	5	1	1	0
chrX	49183906	49183906	T	G	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_006150:exon3:c.A140C:p.Q47P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	0.0550194908856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.194	0.28120	T	0.741	0.42992	P	0.474	0.46883	P	.	.	.	.	1	0.81001	D	1.735	0.44892	L	1.3	0.35590	T	-1.55	0.37566	N	0.621	0.63628	-1.0363	0.18450	T	0.097	0.36445	T	9	0.37614223	0.53846	T	0.055019	0.66075	D	0.218	0.51265	0.482	0.56302	0.311387274539	0.30754	0.7808768006625961	0.78038	0.766097499569	0.64522	0.630308508873	0.57188	T	0.071384	0.39453	T	0.0228514	0.54765	T	-0.204952	0.54177	T	0.744423687458038	0.42977	D	0.885811	0.61165	D	0.4391945	0.63350	0.43231058	0.66821	0.4391945	0.63351	0.43231058	0.66821	-13.877	0.92651	D	.	.	0.684	0.74982	P	.;.	.;.	3.821254	0.55182	23.6	0.99433653120017074	0.64374	0.74636	0.36516	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999995347337047	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.67	4.67	0.58089	1.164000	0.31420	7.779000	0.68628	0.665000	0.62972	0.942000	0.32722	1.000000	0.68203	0.952000	0.50033	0.0:0.0:0.0:1.0	11.363	0.48893	34	0.98095	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1205.63	35	chrX	49183906	.	T	G	1205.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.67;DP=261;ExcessHet=0;FS=1.88;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-1.518;SOR=0.981	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1216,0,874	6	0	1	0
chrX	54238395	54238395	C	G	exonic	WNK3	.	nonsynonymous SNV	WNK3:NM_001002838:exon19:c.G3820C:p.A1274P,WNK3:NM_020922:exon19:c.G3961C:p.A1321P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.232290703586	.	.	3.441e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs782221000	1.822e-05	1.821e-05	1.497e-05	2.479e-05	0.0005	1.19e-05	9.67e-06	0.0002	0.0001	0	0	0	0	0	0.0005	2.376e-06	2.171e-05	0.0003	1.787e-05	1.741e-05	1.285e-05	2.933e-05	0.0008	2.97e-06	1.11e-06	0.0001	5.543e-05	0	0	0	0	0	0	0	0	0	0.0008	0.006	0.61437	D	0.272	0.23164	T	0.003	0.11197	B	0.011	0.15521	B	0.204086	0.16527	N	0.544962	1	0.08975	N	0.805	0.20218	L	-0.5	0.70833	T	-1.4	0.38151	N	0.153	0.15749	-1.0295	0.20616	T	0.155	0.48636	T	10	0.05157432	0.05059	T	0.232291	0.88314	D	0.044	0.11924	0.293	0.25560	0.220282294035	0.21616	0.5777675379425738	0.57705	0.277327358951	0.30209	0.353463768959	0.18431	T	0.062499	0.31932	T	-0.450757	0.01118	T	-0.58071	0.14482	T	0.0617594144810196	0.07444	T	0.626737	0.25394	T	0.3609784	0.57910	0.3093593	0.56951	0.3609784	0.57911	0.3093593	0.56950	-3.512	0.16741	T	.	.	0.176	0.38534	B	.;.;.;.	.;.;.;.	2.201710	0.28079	17.68	0.98798974773227455	0.46413	0.37988	0.25886	N	AEFGBI	.	.	.	.	.	.	.	.	.	9.06946502425865E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.17	2.06	0.25932	0.641000	0.24411	0.920000	0.22697	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1822:0.5035:0.1506:0.1637	2.397	0.04125	5	0.99359	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.001376	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.010526	0.2143	3002.03	33	chrX	54238395	.	C	G	3002.03	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.1;DP=284;ExcessHet=0;FS=0.628;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=-0.445;SOR=0.782	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1082,0,1155	5	1	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6429	77347.4	456	chrX	55146104	.	G	A	77347.4	.	AC=9;AF=0.643;AN=14;BaseQRankSum=1.09;DP=3383;ExcessHet=4.7409;FS=0.72;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=23.53;ReadPosRankSum=0.916;SOR=0.605	GT:AD:DP:GQ:PL	0/1:136,524:660:99:13702,0,1864	0	2	5	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71907.1	363	chrX	55146212	.	C	T	71907.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.54;DP=3046;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.81;ReadPosRankSum=0.683;SOR=0.621	GT:AD:DP:GQ:PL	0/1:129,525:654:99:14359,0,1736	0	0	7	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	46390.1	239	chrX	55146254	.	T	C	46390.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.127;DP=2318;ExcessHet=14.2834;FS=2.658;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.82;ReadPosRankSum=-0.102;SOR=0.514	GT:AD:DP:GQ:PL	0/1:118,432:550:99:11979,0,1886	0	0	7	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	45507.1	184	chrX	55146275	.	T	G	45507.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.077;DP=1901;ExcessHet=14.2834;FS=7.332;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.06;ReadPosRankSum=-2.887;SOR=0.338	GT:AD:DP:GQ:PL	0/1:89,372:461:99:12413,0,1304	0	0	7	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	7945.13	159	chrX	55146283	.	C	T	7945.13	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.228;DP=1737;ExcessHet=2.5225;FS=0.585;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=6.06;ReadPosRankSum=-0.29;SOR=0.61	GT:AD:DP:GQ:PL	0/1:263,156:419:99:3817,0,8361	3	0	4	0
chrX	55487291	55487291	G	A	exonic	USP51	.	nonsynonymous SNV	USP51:NM_201286:exon2:c.C1649T:p.T550I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0215375596036	9.5e-05	.	1.182e-05	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs373023144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20154	T	0.456	0.12740	T	0.137	0.27402	B	0.115	0.31843	B	0.000000	0.84330	U	0.000000	1	0.81001	D	0.43	0.12624	N	4.16	0.02791	T	-1.11	0.28703	N	0.457	0.49420	-0.7818	0.56201	T	0.008	0.02679	T	10	0.19919565	0.35919	T	0.021538	0.44322	T	0.169	0.43123	.	.	0.388112687808	0.38423	0.43907990430673405	0.43824	1.69652609271	0.90222	0.836287975311	0.87527	D	0.015261	0.12837	T	-0.154525	0.27606	T	-0.459741	0.26626	T	0.352301388978958	0.27109	T	0.832017	0.49964	T	0.22847258	0.45567	0.2366054	0.48936	0.22847258	0.45567	0.2366054	0.48935	-5.391	0.40833	T	.	.	0.132	0.28550	B	.	.	2.217171	0.28292	17.75	0.97807297973646978	0.36103	0.68788	0.33935	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999926078	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.03	3.03	0.34070	6.487000	0.73540	3.734000	0.39628	0.584000	0.30380	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	11.283	0.48442	280	0.88949	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2104.44	33	chrX	55487291	.	G	A	2104.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.483;DP=362;ExcessHet=0;FS=1.163;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=1.25;SOR=0.752	GT:AD:DP:GQ:PL	0/1:99,79:178:99:2115,0,2557	6	0	1	0
chrX	71100925	71100925	T	C	exonic	FOXO4	.	nonsynonymous SNV	FOXO4:NM_005938:exon2:c.T695C:p.V232A,FOXO4:NM_001170931:exon3:c.T530C:p.V177A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0253091899793	.	.	0.0002	0	0	0	0	0.0003	0	0	0.0001358	21	154602	rs199927821	3.553e-05	3.551e-05	2.859e-05	4.96e-05	0.0001	2.66e-05	2.336e-05	6.071e-05	4.249e-05	0	0	0	0	0	0	3.207e-05	0.0001	0.0001	2.676e-05	2.611e-05	2.57e-05	2.917e-05	6.486e-05	7.11e-06	2.97e-06	1.074e-05	4.02e-06	6.486e-05	0	0	0	0	0	0	1.881e-05	0	0	0.928	0.02327	T	0.959	0.02917	T	0.0	0.02946	B	0.0	0.01387	B	0.003485	0.00965	N	27.304500	1	0.08975	N	-0.69	0.01958	N	-3.46	0.95458	D	1.26	0.00998	N	0.036	0.01658	-0.0966	0.80176	T	0.681	0.88985	D	10	0.014832288	0.00312	T	0.025309	0.48284	D	0.223	0.52023	0.239	0.17065	0.287411543184	0.28351	0.4419654593261067	0.44113	0.412149464764	0.41964	0.249682813883	0.03735	T	0.33972	0.70884	T	-0.350164	0.04716	T	-0.476334	0.24837	T	0.0164028709060089	0.00407	T	0.293371	0.05395	T	0.025123097	0.01415	0.05011	0.07796	0.025123097	0.01415	0.05011	0.07796	-1.707	0.03230	T	.	.	0.065	0.03661	B	.;.	.;.	-0.013291	0.04192	1.018	0.5319539533865385	0.04892	0.10718	0.16144	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999928012464835	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.11	-1.7	0.07721	1.750000	0.37956	0.300000	0.16968	-0.800000	0.03169	0.037000	0.20830	0.000000	0.08366	0.615000	0.31768	0.0:0.2821:0.2262:0.4917	6.234	0.19965	519	0.74455	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2143	3065.35	33	chrX	71100925	.	T	C	3065.35	.	AC=3;AF=0.214;AN=14;BaseQRankSum=2.15;DP=295;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=19.65;ReadPosRankSum=0.781;SOR=0.648	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1536,0,1240	5	1	1	0
chrX	72609679	72609679	G	C	exonic	PHKA1	.	nonsynonymous SNV	PHKA1:NM_001172436:exon22:c.C2374G:p.Q792E,PHKA1:NM_001122670:exon23:c.C2551G:p.Q851E,PHKA1:NM_002637:exon23:c.C2551G:p.Q851E	Muscle glycogenosis, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.299097850687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.69154	D	0.985	0.61118	D	0.903	0.64103	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.445	0.92174	M	-2.98	0.92307	D	-2.68	0.57275	D	0.55	0.59138	0.962	0.96576	D	0.893	0.96465	D	10	0.6087421	0.67324	D	0.299098	0.90822	D	0.747	0.91285	0.607	0.73945	0.920168449814	0.91936	0.8324089067415356	0.83199	1.00788437402	0.74654	0.692946434021	0.66129	T	0.909472	0.98284	D	0.269763	0.80419	D	0.14972	0.80167	D	0.990285694599152	0.80502	D	0.951105	0.81346	D	0.87028307	0.88883	0.87975425	0.93544	0.87028307	0.88884	0.87975425	0.93545	-13.41	0.91825	D	.	.	0.203	0.54696	B	.;.;.;.;.	.;.;.;.;.	4.165302	0.62586	24.5	0.99503393693182141	0.68147	0.97675	0.76331	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999978651	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	9.508000	0.96995	11.483000	0.92898	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	15.893	0.79097	191	0.92559	GH15-like domain;GH15-like domain;.;.;GH15-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	388.49	34	chrX	72609679	.	G	C	388.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.071;DP=276;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.7;ReadPosRankSum=-1.122;SOR=0.688	GT:AD:DP:GQ:PL	0/1:78,27:105:99:399,0,1845	6	0	1	0
chrX	83873874	83873874	A	G	exonic	CYLC1	.	nonsynonymous SNV	CYLC1:NM_021118:exon4:c.A1166G:p.K389R	.	438	1081	2	1	0	4	0.00184672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	.	0.00450331	0.0032	0	0.0001	0	0	0	0	0.0264	0.0024579	380	154602	rs763345763	0.0010	0.0010	0.0006	0.0018	0.0195	0.0010	0.0009	0.0185	0.0181	0	0	0	6.769e-05	0	0.0007	7.22e-06	0.0011	0.0195	0.0005	0.0006	0.0003	0.0010	0.0213	0.0004	0.0004	0.0168	0.0152	3.261e-05	0	0	0	0	0	0	3.804e-05	0	0.0213	0.0	0.91255	D	0.015	0.61642	D	0.844	0.46645	P	0.64	0.52082	P	.	.	.	.	1	0.08975	N	2.545	0.74286	M	1.59	0.28836	T	-1.74	0.41239	N	0.018	0.00252	-1.0598	0.11805	T	0.083	0.32499	T	9	0.0034106076	0.00060	T	.	.	.	0.039	0.10176	.	.	0.21174354426	0.20776	3.425407112403287E-4	0.00031	0.00234716027903	0.00204	0.393551528454	0.24168	T	0.06926	0.33665	T	-0.704901	0.00034	T	-0.769722	0.02777	T	0.117454477888754	0.14178	T	0.466353	0.13696	T	0.13992241	0.32303	0.24084759	0.49468	0.13992241	0.32302	0.24084759	0.49467	-6.816	0.52678	T	.	.	0.123	0.25914	B	.	.	1.742320	0.22170	15.51	0.93792676911254225	0.23757	0.15898	0.19134	N	AEFI	.	.	.	.	.	.	.	.	.	2.55326433640276E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.29	2.05	0.25860	1.080000	0.30390	1.168000	0.24603	0.756000	0.94297	0.062000	0.21832	0.065000	0.22112	0.011000	0.09372	0.8499:0.0:0.1501:0.0	4.857	0.12927	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002079	0.000000	0.000000	0.003984	0.000000	0.000000	0.000000	0.010526	0.07143	914.53	37	chrX	83873874	.	A	G	914.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.597;DP=220;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-2.31;SOR=0.65	GT:AD:DP:GQ:PL	0/1:40,37:77:99:925,0,1081	6	0	1	0
chrX	105923419	105923419	A	G	exonic	NRK	.	nonsynonymous SNV	NRK:NM_198465:exon18:c.A2912G:p.D971G	.	436	1073	8	5	0	18	0.00831793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	.	0.0029	0.00264901	0.0044	0	0	0	0.0048	0.0062	0.0119	0.0033	0.0014489	224	154602	rs35334892	0.0048	0.0046	0.0048	0.0048	0.0085	0.0047	0.0047	0.0063	0.0055	0.0005	0.0016	0.0066	3.7e-05	0.0036	0.0085	0.0054	0.0051	0.0016	0.0031	0.0031	0.0031	0.0030	0.0049	0.0028	0.0027	0.0044	0.0042	0.0005	0	0.0013	0.0061	0	0.0037	0.0093	0.0049	0.0026	0.0034	0.094	0.31383	T	0.379	0.16037	T	0.0	0.02946	B	0.0	0.01387	B	0.586686	0.05567	N	1.265960	1	0.08975	N	0.805	0.20218	L	-1.08	0.77078	T	0.66	0.02297	N	0.032	0.00825	-1.0210	0.23389	T	0.183	0.53148	T	10	0.00446856	0.00092	T	.	.	.	0.124	0.34239	.	.	0.447408163157	0.44359	0.10678850580227389	0.10608	.	.	0.311387300491	0.12117	T	0.125594	0.45140	T	-0.591549	0.00164	T	-0.617931	0.11348	T	0.00342538533581835	0.00036	T	0.50065	0.15660	T	0.05652215	0.11132	0.085507974	0.19747	0.05652215	0.11131	0.085507974	0.19746	-4.39	0.29421	T	.	.	0.087	0.11414	B	.	.	0.296347	0.06725	3.233	0.7773954620421818	0.12002	0.02831	0.07574	N	AEFBI	.	.	.	.	.	.	.	.	.	3.11172433138212E-4	0.06498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.06	-2.74	0.05582	-0.125000	0.10555	0.151000	0.15292	0.754000	0.88378	0.001000	0.13787	0.000000	0.08366	0.422000	0.27272	0.3433:0.1993:0.2602:0.1972	0.312	0.00269	35	0.98078	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.005771	0.006897	0.002488	0.012876	0.000000	0.000000	0.010000	0.000000	0.07143	1741.44	33	chrX	105923419	.	A	G	1741.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.059;DP=316;ExcessHet=0;FS=0.668;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=1.54;SOR=0.814	GT:AD:DP:GQ:PL	0/1:61,71:132:99:1752,0,1477	6	0	1	0
chrX	120379482	120379482	A	T	exonic	ATP1B4	.	nonsynonymous SNV	ATP1B4:NM_001142447:exon8:c.A922T:p.T308S,ATP1B4:NM_012069:exon8:c.A910T:p.T304S	.	430	1034	30	28	0	86	0.0399257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0014	0.00529801	0.0038	0.0005	0.0005	0	0.0022	0.0024	0.0082	0.0223	0.0036804	569	154602	rs138577504	0.0023	0.0023	0.0018	0.0032	0.0288	0.0022	0.0022	0.0245	0.0230	0.0002	0.0008	0.0005	3.334e-05	0.0015	0.0288	0.0013	0.0036	0.0195	0.0018	0.0019	0.0016	0.0024	0.0190	0.0016	0.0015	0.0148	0.0133	0.0001	0.0044	0.0019	0.0004	0.0006	0.0011	0.0327	0.0019	0.0033	0.0190	0.208	0.19782	T	0.2	0.27591	T	0.711	0.42090	P	0.41	0.44785	B	0.000000	0.84330	D	0.047345	0.999845	0.49770	D	0.995	0.25082	L	1.56	0.29602	T	-1.65	0.39692	N	0.067	0.07398	-1.0910	0.05367	T	0.060	0.24981	T	10	0.009136409	0.00206	T	.	.	.	0.094	0.27141	.	.	0.516770950016	0.51320	0.7401097463312105	0.73955	0.433384082707	0.43495	0.614305377007	0.54924	T	0.016557	0.13660	T	-0.654293	0.00068	T	-0.697686	0.05953	T	0.0296468893722377	0.01935	T	0.79512	0.43772	T	0.40518048	0.61089	0.34659722	0.60326	0.40518048	0.61090	0.34659722	0.60325	-5.61	0.43210	T	.	.	0.194	0.52177	B	.;.;.	.;.;.	2.149820	0.27382	17.44	0.99072733689664194	0.51762	0.84846	0.43938	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999872186014163	0.44625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.72	5.72	0.89380	4.136000	0.57766	11.011000	0.84858	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	1.0:0.0:0.0:0.0	14.033	0.64149	924	0.18029	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.021424	0.000000	0.018553	0.035573	0.000000	0.011765	0.026549	0.026316	0.08333	747.27	29	chrX	120379482	.	A	T	747.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.641;DP=176;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=0.077;SOR=0.711	GT:AD:DP:GQ:PL	0/1:21,30:51:99:757,0,476	5	0	1	1
chrX	124081437	124081437	T	G	exonic	STAG2	.	nonsynonymous SNV	STAG2:NM_001375375:exon27:c.T2833G:p.F945V,STAG2:NM_006603:exon27:c.T2833G:p.F945V,STAG2:NM_001042749:exon28:c.T2833G:p.F945V,STAG2:NM_001042750:exon28:c.T2833G:p.F945V,STAG2:NM_001042751:exon28:c.T2833G:p.F945V,STAG2:NM_001282418:exon28:c.T2833G:p.F945V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0606184485289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.17701	T	0.247	0.25670	T	0.099	0.25639	B	0.108	0.31289	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.93	0.51437	L	1.71	0.35405	T	-3.55	0.68764	D	0.479	0.52386	-1.0843	0.06535	T	0.089	0.34188	T	10	0.28190458	0.45768	T	0.060618	0.68060	D	0.226	0.52472	0.313	0.28774	0.878892413539	0.87770	0.8350191374688833	0.83460	1.74758098799	0.90959	0.790423154831	0.80507	T	0.343671	0.71229	T	0.233942	0.77091	D	0.0982644	0.76793	D	0.945026516914368	0.62179	D	0.894511	0.63379	D	0.87274814	0.89081	0.5371338	0.73252	0.87274814	0.89082	0.5371338	0.73252	-11.656	0.83135	D	0.4392481225320609	0.52504	0.726	0.74131	P	.;.;.;.;.	.;.;.;.;.	2.888423	0.38249	20.7	0.98130708185957261	0.38514	0.95838	0.66370	D	AEGBI	.	.	.	.	.	.	.	.	.	0.999851276444135	0.44174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.83	4.63	0.57175	5.137000	0.64630	7.783000	0.68714	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1384:0.0:0.0:0.8616	11.322	0.48663	924	0.18029	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1351.27	33	chrX	124081437	.	T	G	1351.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.332;DP=289;ExcessHet=0;FS=1.412;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=0.427;SOR=0.832	GT:AD:DP:GQ:PL	0/1:63,61:124:99:1361,0,1413	5	0	1	1
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	221.61	46	chrX	135580144	.	G	C	221.61	.	AC=4;AF=0.333;AN=12;BaseQRankSum=-1.167;DP=355;ExcessHet=3.1439;FS=347.102;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.164;SOR=9.383	GT:AD:DP:GQ:PL	0/1:55,25:87:44:44,0,834	2	0	4	1
chrX	136348572	136348572	C	G	exonic	ADGRG4	.	nonsynonymous SNV	ADGRG4:NM_153834:exon6:c.C4866G:p.N1622K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00685907420191	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1267775469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.33585	T	0.039	0.51112	D	0.017	0.19866	B	0.007	0.17295	B	.	.	.	.	1	0.08975	N	.	.	.	1.74	0.26885	T	-0.76	0.21215	N	0.095	0.12055	-0.9747	0.36191	T	0.022	0.09467	T	9	0.044595957	0.03435	T	0.006859	0.18149	T	0.066	0.19193	0.328	0.31196	0.0401082797425	0.02173	0.026025079312207336	0.02553	0.0383316184181	0.04077	0.252176344395	0.04001	T	0.009587	0.08721	T	-0.550227	0.00291	T	-1.02814	0.00093	T	0.0424691748307121	0.04141	T	0.385361	0.09439	T	0.0946174	0.22249	0.08749049	0.20340	0.0946174	0.22249	0.08749049	0.20339	-4.035	0.24326	T	.	.	0.187	0.40424	B	.;.;.	.;.;.	0.050297	0.04640	1.299	0.92714471581557667	0.22210	0.00941	0.03634	N	AEFBI	.	.	.	.	.	.	.	.	.	0.998196500409076	0.36560	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.86	-3.3	0.04692	-0.291000	0.08379	-2.961000	0.03189	0.547000	0.25779	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	0.3455:0.2343:0.1691:0.2511	0.160	0.00095	810	0.42761	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2516.44	112	chrX	136348572	.	C	G	2516.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.11;DP=495;ExcessHet=0;FS=0.549;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.98;ReadPosRankSum=0.641;SOR=0.767	GT:AD:DP:GQ:PL	0/1:85,95:180:99:2527,0,2255	6	0	1	0
chrX	151924368	151924368	G	C	exonic	MAGEA4	.	nonsynonymous SNV	MAGEA4:NM_001011548:exon3:c.G704C:p.R235T,MAGEA4:NM_001011549:exon3:c.G704C:p.R235T,MAGEA4:NM_001011550:exon3:c.G704C:p.R235T,MAGEA4:NM_002362:exon3:c.G704C:p.R235T	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00240002863196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.558e-06	4.553e-06	0	1.38e-05	5.942e-06	1.34e-06	9.7e-07	1.74e-06	1.27e-06	0	0	0	0	0	0	5.942e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.067	0.44501	T	0.051	0.22415	B	0.038	0.23361	B	0.154200	0.17869	N	0.601453	1	0.08975	N	2.525	0.73725	M	3.51	0.04959	T	-3.77	0.71397	D	0.146	0.14763	-0.9861	0.33566	T	0.017	0.07140	T	9	0.20386696	0.36556	T	0.002	0.04701	T	0.043	0.11576	0.683	0.82078	0.15499578495	0.15088	0.28224188199584044	0.28137	0.00283182283537	0.00241	0.235563755035	0.02405	T	0.042422	0.26178	T	-0.411504	0.01943	T	-0.828873	0.01282	T	0.304191023111343	0.25176	T	0.106789	0.10339	T	0.243736	0.47315	0.25240082	0.50868	0.243736	0.47315	0.25240082	0.50867	-2.678	0.07120	T	.	.	0.150	0.33110	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.425770	0.02119	0.201	0.60672456281311093	0.06520	0.00444	0.02161	N	AEFI	.	.	.	.	.	.	.	.	.	0.472283904669244	0.20717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.37	-4.73	0.03022	-3.632000	0.00458	-20.000000	0.00162	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5197:0.1492:0.1802:0.1509	1.782	0.02851	728	0.54609	MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain|MAGE homology domain;MAGE homology domain|MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	2571.49	38	chrX	151924368	.	G	C	2571.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.952;DP=414;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=-0.437;SOR=0.692	GT:AD:DP:GQ:PL	0/1:102,106:208:99:2582,0,2601	6	0	1	0
chrX	153398281	153398281	-	CCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG	exonic	PNMA6E	.	nonframeshift insertion	PNMA6E:NM_001367770:exon2:c.568_569insCAGGAGGCGCAGGTGAGGCAGGAGCAGCAGGTGAGG:p.E189_G190insAGGAGEAGAAGE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071	0.0018	0.0059	0.0092	0.0131	0.0066	0.0065	0.0109	0.0101	0.0013	0.0131	0.0105	0	0.0103	0.0108	0.0075	0.0103	0.0011	0.0002	0.0006	0.0003	0	0.0003	0.0001	8.951e-05	0.0001	9.153e-05	8.465e-05	0	0.0003	0	0	0.0007	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	296.85	41	chrX	153398281	.	C	CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG	296.85	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.245;DP=182;ExcessHet=0;FS=3.9;MLEAC=1;MLEAF=0.071;MQ=59.17;MQRankSum=-2.037;QD=10.6;ReadPosRankSum=-0.936;SOR=0.207	GT:AD:DP:GQ:PL	0/1:19,9:28:99:307,0,725	6	0	1	0
chrX	153954347	153954347	G	T	exonic	HCFC1	.	nonsynonymous SNV	HCFC1:NM_005334:exon17:c.C4052A:p.P1351H	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), X-linked recessive	.	.	.	.	.	.	.	.	.	.	1335301	Methylmalonic_acidemia_with_homocystinuria,_type_cblX|not_specified	MONDO:MONDO:0010657,MedGen:C0796208,OMIM:309541,Orphanet:369962|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	0.170433974431	.	.	2.43e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs111385795	1.559e-05	1.548e-05	1.092e-05	2.514e-05	0.0003	9.49e-06	7.76e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.65419	D	0.08	0.41913	T	0.454	0.36182	P	0.156	0.34472	B	0.405505	0.13067	N	0.753550	1	0.08975	N	1.245	0.31408	L	4.08	0.03003	T	-1.26	0.33197	N	0.222	0.24883	-0.9755	0.36015	T	0.012	0.04463	T	10	0.062199056	0.07917	T	0.170434	0.84799	D	0.031	0.07369	0.201	0.11522	0.138757226776	0.13463	0.3749966295393151	0.37413	1.03562878044	0.75583	0.332493126392	0.15311	T	0.118656	0.43963	T	-0.611252	0.00124	T	-0.80693	0.01735	T	0.0441831551629783	0.04454	T	0.666933	0.27600	T	0.09337487	0.21929	0.12704177	0.30587	0.09337487	0.21929	0.12704177	0.30586	-4.629	0.32534	T	0.1957174390025448	0.25830	0.079	0.17953	B	.;.	.;.	2.439728	0.31399	18.73	0.9912456313364254	0.53089	0.52484	0.29142	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999605788295	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	2.6	0.30173	0.598000	0.23774	.	.	0.672000	0.70159	0.001000	0.13787	1.000000	0.68203	0.772000	0.36596	0.2639:0.0:0.7361:0.0	10.750	0.45401	91	0.96221	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000689	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.07143	1386.45	38	chrX	153954347	.	G	T	1386.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.273;DP=306;ExcessHet=0;FS=0.728;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.199;SOR=0.843	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1397,0,1574	6	0	1	0
chrX	154652152	154652152	C	G	exonic	CTAG2	.	nonsynonymous SNV	CTAG2:NM_172377:exon3:c.G520C:p.A174P	.	459	1058	3	2	0	7	0.00329722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000663695475345	.	.	0.0004	0.0002	0	0.0012	0	8.549e-05	0.0016	0.0019	0.0016106	249	154602	rs201803251	0.0014	0.0023	0.0009	0.0026	0.0118	0.0014	0.0014	0.0111	0.0108	0.0017	0.0011	0.0002	0.0038	9.869e-05	0.0014	0.0008	0.0014	0.0118	0.0018	0.0029	0.0024	0.0004	0.0108	0.0016	0.0015	0.0077	0.0066	0.0020	0.0015	0.0010	0.0004	0.0043	0	0.0047	0.0016	0.0013	0.0108	.	.	.	0.271	0.22291	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.9	0.23486	T	0.41	0.03407	N	0.024	0.00445	-1.0097	0.27012	T	0.028	0.12147	T	9	0.005469352	0.00121	T	6.64E-4	0.00367	T	0.003	0.00094	.	.	0.149567049428	0.14543	.	.	.	.	.	.	.	.	.	.	-0.645373	0.00077	T	-1.16481	0.00005	T	0.000144985096994787	0.00001	T	0.308669	0.05963	T	.	.	.	.	.	.	.	.	-3.004	0.10224	T	.	.	0.041	0.00020	B	.	.	0.148909	0.05414	1.890	0.4723368625449702	0.03846	0.00012	0.00170	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0902437355507541	0.16104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.63	-0.819	0.10283	0.057000	0.14157	-3.673000	0.02615	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1301:0.62:0.2499:0.0	7.253	0.25337	80	0.96670	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000767	0.000000	0.000000	0.000000	0.000000	0.000000	0.005051	0.000000	0.07143	151.53	34	chrX	154652152	.	C	G	151.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.17;DP=156;ExcessHet=0;FS=5.463;MLEAC=1;MLEAF=0.071;MQ=44.5;MQRankSum=-3.406;QD=5.61;ReadPosRankSum=-2.19;SOR=2.34	GT:AD:DP:GQ:PL	0/1:21,6:27:99:162,0,587	6	0	1	0