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	NSWES978	WT	HH	HZ	NC
chr1	1041245	1041245	C	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon5:c.C800T:p.T267M	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	690290	Inborn_genetic_diseases|AGRN-related_disorder|not_provided|Congenital_myasthenic_syndrome_8	MeSH:D030342,MedGen:C0950123|.|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.273	.	.	0.00199681	0.0008	0.0348	0	0	0	0	0	0	0.0002846	44	154602	rs566673314	0.0002	0.0003	0.0003	0.0002	0.0095	0.0002	0.0002	0.0085	0.0082	0.0095	0.0003	0	0	0	0.0015	1.228e-05	0.0007	6.656e-05	0.0024	0.0024	0.0024	0.0023	0.0083	0.0022	0.0021	0.0076	0.0073	0.0083	0	0.0008	0	0	0	0	4.42e-05	0	0	0.011	0.55530	D	0.004	0.74150	D	.	.	.	.	.	.	0.011964	0.29336	N	0.273243	0.988631	0.40800	D	2.455	0.71248	M	-1.07	0.76948	T	-2.24	0.50175	N	0.163	0.17140	0.007	0.82399	D	0.555	0.83752	D	10	0.008358687	0.00190	T	.	.	.	0.273	0.58883	0.305	0.27485	0.831208778231	0.82960	0.20380577410110742	0.20297	1.11105183779	0.78059	0.686756491661	0.65240	T	.	.	.	-0.379887	0.03121	T	-0.306782	0.44004	T	0.0380713030691359	0.03345	T	0.973953	0.91418	D	.	.	.	.	.	.	.	.	-7.726	0.59188	D	.	.	0.090	0.19679	B	.;.	.;.	2.979800	0.39743	21.0	0.99768286173574172	0.85666	0.48260	0.28167	N	AEFDBHCIJ	0.556997	0.56680	D	0.00164858252539335	0.41930	2.516975	-0.211008384153284	0.31138	1.759519	0.999998994425346	0.74766	0.789315	0.99827	0	0.723109	0.82256	0	0.768056	0.98339	0	0.562822	0.20929	0	.	.	4.69	2.75	0.31439	2.239000	0.42728	1.661000	0.27900	0.573000	0.29008	0.620000	0.27914	0.903000	0.28003	0.061000	0.16044	0.0:0.7746:0.1456:0.0799	9.376	0.37446	940	0.13648	.;Kazal domain|EGF-like domain|Follistatin-like, 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	0.004444	0.006098	0.007645	0.000000	0.000000	0.000000	0.006897	0.000000	0.02632	1547.33	33	chr1	1041245	.	C	T	1547.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.693;DP=747;ExcessHet=0;FS=3.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=2.47;SOR=0.397	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1561,0,1442	18	0	1	0
chr1	2385028	2385028	G	A	exonic	MORN1	.	nonsynonymous SNV	MORN1:NM_001301060:exon6:c.C487T:p.R163W,MORN1:NM_024848:exon6:c.C487T:p.R163W	.	427	1080	14	1	0	16	0.00735294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.044155518791	.	0.000798722	0.0025	0.0005	0.0008	0	0	0.0008	0.0068	0.0091	0.0008732	135	154602	rs146043178	0.0006	0.0006	0.0003	0.0008	0.0067	0.0005	0.0005	0.0062	0.0060	0.0001	0.0003	3.871e-05	0.0001	0	0.0017	0.0002	0.0007	0.0067	0.0004	0.0004	0.0002	0.0006	0.0073	0.0003	0.0003	0.0054	0.0047	0.0001	0	0	0	0	0	0	0.0002	0.0005	0.0073	0.033	0.44358	D	0.006	0.74150	D	0.993	0.65571	D	0.545	0.49043	P	0.023818	0.26374	N	0.256357	0.959175	0.26196	N	2.81	0.81869	M	0.47	0.56114	T	-3.27	0.65512	D	0.305	0.35620	-0.6535	0.62561	T	0.292	0.66384	T	10	0.010718226	0.00237	T	0.044156	0.61348	D	0.234	0.53644	.	.	0.679876379376	0.67715	0.47728721252311435	0.47648	0.0235759496406	0.02391	0.274909377098	0.06793	T	0.234057	0.60099	T	-0.395038	0.02495	T	-0.337471	0.40631	T	0.0635997862295113	0.07723	T	0.79582	0.43907	T	.	.	.	.	.	.	.	.	-5.901	0.48880	T	.	.	0.119	0.24294	B	.;.	.;.	4.769610	0.77191	26.7	0.99875486994690132	0.95244	0.74037	0.36214	D	AEFDBHCI	0.272570	0.38817	N	0.492807292290507	0.66668	4.980061	0.476858194998025	0.66459	4.954893	0.999999998611237	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.779548	0.98927	0	0.604944	0.38103	0	.	.	4.62	4.62	0.56946	2.666000	0.46464	5.544000	0.48876	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	15.312	0.73750	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002037	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.011364	0.02632	1592.33	34	chr1	2385028	.	G	A	1592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.838;SOR=0.652	GT:AD:DP:GQ:PL	0/1:40,65:105:99:1606,0,900	18	0	1	0
chr1	2491211	2491211	G	A	exonic	PLCH2	.	nonsynonymous SNV	PLCH2:NM_001303012:exon11:c.G1454A:p.R485H,PLCH2:NM_001303013:exon11:c.G1595A:p.R532H,PLCH2:NM_014638:exon11:c.G1535A:p.R512H	.	429	1084	9	0	0	9	0.00413413	.	.	.	696652	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0765147887737	.	0.000998403	0.0008	0	0.0008	0.0001	0	0.0003	0	0.0038	0.0006339	98	154602	rs532800575	0.0003	0.0003	0.0002	0.0004	0.0031	0.0003	0.0003	0.0028	0.0027	2.988e-05	0.0006	0	2.52e-05	0	0.0014	0.0001	0.0005	0.0031	0.0003	0.0003	0.0002	0.0005	0.0048	0.0002	0.0002	0.0033	0.0028	0	0	0.0004	0	0	0	0.0068	0.0002	0	0.0048	0.1	0.37326	T	0.014	0.62352	D	0.997	0.70673	D	0.817	0.58969	P	0.009870	0.30165	N	0.323928	0.595006	0.81001	D	2.48	0.72069	M	0.98	0.42122	T	-1.71	0.40660	N	0.351	0.39254	-0.8875	0.49147	T	0.171	0.51261	T	10	0.011690587	0.00254	T	0.076515	0.72549	D	0.118	0.32913	.	.	0.626257759281	0.62321	0.19855530556231638	0.19772	0.289332929805	0.31346	0.340050429106	0.16446	T	0.360885	0.72706	T	-0.488461	0.00663	T	-0.476838	0.24784	T	0.0518849761563192	0.05827	T	.	.	.	0.049219903	0.08706	0.054320086	0.09319	0.049219903	0.08706	0.054320086	0.09318	-10.287	0.75612	D	.	.	0.077	0.07412	B	.;.;.	.;.;.	3.739800	0.53540	23.4	0.99708353385747406	0.81143	0.89283	0.49654	D	AEFBI	0.203853	0.33033	N	0.0810135037519071	0.45577	2.811969	-0.000912351068945445	0.39675	2.356008	0.368685921716499	0.19848	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	5.03	3.17	0.35510	2.945000	0.48735	3.351000	0.37785	-0.103000	0.15852	1.000000	0.71638	1.000000	0.68203	0.270000	0.23768	0.2478:0.0:0.7522:0.0	8.100	0.30009	840	0.37365	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	1484.33	41	chr1	2491211	.	G	A	1484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.293;DP=839;ExcessHet=0;FS=4.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.91;ReadPosRankSum=-0.241;SOR=0.363	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1498,0,1310	18	0	1	0
chr1	2591973	2591973	C	T	exonic	MMEL1	.	nonsynonymous SNV	MMEL1:NM_033467:exon22:c.G2122A:p.D708N	.	403	1091	28	0	0	28	0.0126697	.	.	.	746392	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.154	.	0.0004	0.00339457	0.0027	0.0002	0.0008	0	0	0.0014	0.0056	0.0130	0.0023544	364	154602	rs144423087	0.0015	0.0015	0.0011	0.0019	0.0121	0.0014	0.0014	0.0114	0.0111	0.0001	0.0011	0.0014	0	3.783e-05	0.0121	0.0008	0.0020	0.0120	0.0015	0.0015	0.0012	0.0017	0.0141	0.0013	0.0013	0.0114	0.0104	0.0002	0	0.0036	0.0017	0	0	0.0102	0.0011	0.0024	0.0141	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.007	0.12992	B	0.150564	0.17982	N	0.591254	0.999967	0.18878	N	0.485	0.13215	N	-1.63	0.82440	D	0.61	0.03521	N	0.193	0.24758	-0.8334	0.53081	T	0.170	0.51052	T	10	0.019003183	0.00419	T	.	.	.	0.154	0.40340	.	.	0.128392430309	0.12331	0.21629869131380708	0.21545	0.166381697515	0.18776	0.254234850407	0.04227	T	0.240014	0.60826	T	-0.56254	0.00245	T	-0.570438	0.15409	T	0.00526202441618175	0.00057	T	0.859314	0.55085	D	0.031152738	0.02903	0.035731416	0.02881	0.031152738	0.02903	0.035731416	0.02881	-0.944	0.01042	T	.	.	0.066	0.03515	B	.;.	.;.	0.235682	0.06164	2.612	0.59895238230017034	0.06333	0.03725	0.09017	N	AEFDBI	0.135791	0.25624	N	-1.65545729701567	0.01012	0.04388216	-1.6766926444912	0.01244	0.05605033	0.998401349196352	0.36906	0.554377	0.28877	0	0.547309	0.14657	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	3.86	-4.25	0.03508	0.291000	0.18748	-0.649000	0.08038	-0.885000	0.02425	0.001000	0.13787	0.000000	0.08366	0.149000	0.20271	0.0:0.2899:0.3836:0.3265	5.803	0.17690	835	0.38313	Peptidase M13, C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004541	0.005051	0.001359	0.008824	0.000000	0.000000	0.003067	0.011364	0.02632	1271.33	39	chr1	2591973	.	C	T	1271.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.826;DP=755;ExcessHet=0;FS=1.543;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.13;SOR=0.858	GT:AD:DP:GQ:PL	0/1:50,57:107:99:1285,0,1125	18	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	.	.	.	.	.	.	.	.	0.15	307.41	39	chr1	3836493	.	A	C	307.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.875;DP=849;ExcessHet=0.3672;FS=48.286;InbreedingCoeff=-0.2465;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=2.52;SOR=3.55	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,13:43:98:.:.:98,0,639:.	7	0	3	9
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3438	775.38	34	chr1	7933282	.	T	C	775.38	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-1.376;DP=684;ExcessHet=9.6465;FS=107.214;InbreedingCoeff=-0.4822;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.717;SOR=9.203	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,23:58:99:.:.:260,0,517:.	5	0	11	3
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,32:153:99:.:.:1166,0,3854:.	7	0	12	0
chr1	13225081	13225081	T	C	exonic	PRAMEF18;PRAMEF22	.	nonsynonymous SNV	PRAMEF18:NM_001099850:exon2:c.A640G:p.N214D,PRAMEF22:NM_001100631:exon2:c.A640G:p.N214D	.	.	.	.	.	.	.	.	.	.	.	2201965	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs763020534	8.894e-06	1.026e-05	8.169e-06	9.627e-06	0.0002	4.96e-06	3.82e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	7.195e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841649	0.07003	N	1.075240	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9655	0.38112	T	0.032	0.13723	T	10	0.11861926	0.22429	T	0.024504	0.47498	T	.	.	0.542	0.65446	0.0297737177859	0.01360	0.128912251051026	0.12816	.	.	0.704170525074	0.67747	T	0.105483	0.41600	T	-0.307206	0.07996	T	-0.679056	0.07041	T	0.0478166379034519	0.05110	T	.	.	.	0.064217865	0.13603	0.061217017	0.11786	0.064217865	0.13602	0.061217017	0.11786	-3.355	0.14457	T	.	.	0.104	0.18663	B	.	.	0.262767	0.06410	2.879	0.94888337318801164	0.25727	0.00268	0.01460	N	AEFI	0.028681	0.02573	N	-1.06374319058193	0.07320	0.339694	-1.20961213846844	0.05755	0.2750815	1.44059800943036E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.32	-1.42	0.08446	-0.321000	0.08060	-20.000000	0.00162	-0.364000	0.05486	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5129:0.0:0.0:0.4871	3.581	0.07504	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1818.33	452	chr1	13225081	.	T	C	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.12;DP=6784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=-1.879;SOR=0.666	GT:AD:DP:GQ:PL	0/1:303,89:392:99:1832,0,8841	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:514,99:613:99:.:.:1123,0,14874:.	1	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:659,122:781:99:.:.:1401,0,17970:.	1	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:579,93:672:99:967,0,19241	5	0	14	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:197,263:460:99:.:.:6945,0,6529:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:327,120:447:99:2638,0,12397	0	0	19	0
chr1	16564893	16564898	CTTCCC	-	exonic	NBPF1	.	unknown	UNKNOWN	.	336	1181	5	0	0	5	0.00211238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330496581	0.0003	0.0004	0.0003	0.0002	0.0027	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0004	0	0.0004	0.0027	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0	0.0041	0	0	.	.	0	0	0.0041	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	212.29	232	chr1	16564892	.	TCTTCCC	T	212.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.93;DP=3987;ExcessHet=0;FS=1.749;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.21;MQRankSum=-1.55;QD=0.71;ReadPosRankSum=1.08;SOR=0.913	GT:AD:DP:GQ:PL	0/1:275,25:300:99:226,0,11384	18	0	1	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1842	14227.4	1947	chr1	16567226	.	A	C	14227.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.004;DP=10643;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.91;MQRankSum=-2.597;QD=1.96;ReadPosRankSum=-0.774;SOR=0.646	GT:AD:DP:GQ:PL	0/1:747,175:922:99:2560,0,19987	12	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	0.1579	7117.62	633	chr1	16569091	.	T	C	7117.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.269;DP=5318;ExcessHet=2.0135;FS=1.468;InbreedingCoeff=-0.2;MLEAC=6;MLEAF=0.158;MQ=44.1;MQRankSum=-4.469;QD=2.38;ReadPosRankSum=-0.053;SOR=0.712	GT:AD:DP:GQ:PL	0/1:455,67:522:99:225,0,11610	13	0	6	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:244,36:280:99:410,0,6701	7	0	12	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,6:42:99:0|1:16579293_A_G:144,0,1494:16579293	4	0	15	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,6:42:99:0|1:16579293_A_G:144,0,1494:16579293	4	0	15	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,4:40:60:0|1:16579305_G_A:60,0,1494:16579305	6	0	13	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,4:40:60:0|1:16579305_G_A:60,0,1494:16579305	8	0	11	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	0/1:74,20:94:99:423,0,2360	1	7	11	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	6194.53	158	chr1	16760446	.	C	T	6194.53	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.09;DP=4206;ExcessHet=6.9875;FS=15.967;InbreedingCoeff=-0.3571;MLEAC=10;MLEAF=0.263;MQ=44.64;MQRankSum=-0.667;QD=2.69;ReadPosRankSum=0.492;SOR=1.882	GT:AD:DP:GQ:PL	0/1:276,37:313:99:218,0,7354	9	0	10	0
chr1	17823118	17823118	C	A	exonic	ACTL8	.	nonsynonymous SNV	ACTL8:NM_030812:exon2:c.C110A:p.P37Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.125698104957	0.0027	0.000599042	0.0021	0.0006	8.639e-05	0	0.0003	0.0037	0	0	0.0022703	351	154602	rs55738309	0.0025	0.0025	0.0026	0.0024	0.0029	0.0024	0.0024	0.0029	0.0028	0.0003	0.0002	0.0070	0	0.0008	0	0.0029	0.0024	0	0.0016	0.0016	0.0017	0.0014	0.0028	0.0014	0.0014	0.0024	0.0023	0.0005	0	0.0002	0.0072	0	0.0003	0	0.0028	0.0014	0	0.001	0.78490	D	0.382	0.15890	T	0.999	0.77913	D	0.966	0.71341	D	0.652054	0.10504	N	0.797212	1	0.08975	N	1.145	0.29067	L	-3.37	0.94114	D	-1.43	0.35194	N	0.302	0.34659	0.088	0.83963	D	0.796	0.93100	D	10	0.015033692	0.00316	T	0.125698	0.80725	D	0.344	0.66582	.	.	0.96785574353	0.96751	0.5628749215774015	0.56214	1.21586096844	0.80957	0.415955364704	0.27279	T	0.504322	0.82345	D	-0.28773	0.09866	T	-0.180953	0.56435	T	0.0293890418061471	0.01897	T	0.59944	0.22338	T	0.1541782	0.34911	0.19459848	0.43091	0.1541782	0.34911	0.19459848	0.43090	-4.388	0.29394	T	.	.	0.253	0.56071	B	.;.	.;.	2.708774	0.35399	19.89	0.98359374229392371	0.40628	0.48506	0.28222	N	AEFBI	0.141477	0.26366	N	0.19514498297636	0.50965	3.281729	0.085181269986614	0.43803	2.674521	4.85264826981487E-4	0.07123	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.39	0.37919	1.373000	0.33877	4.137000	0.42065	0.599000	0.40250	0.001000	0.13787	0.973000	0.29867	0.223000	0.22544	0.1456:0.586:0.2683:0.0	9.039	0.35469	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3398.33	40	chr1	17823118	.	C	A	3398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.44;DP=1013;ExcessHet=0;FS=3.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=-1.906;SOR=0.924	GT:AD:DP:GQ:PL	0/1:161,143:304:99:3412,0,3822	18	0	1	0
chr1	18854520	18854520	C	G	exonic	TAS1R2	.	nonsynonymous SNV	TAS1R2:NM_152232:exon3:c.G950C:p.R317P	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	.	.	0.013778	0.0053	9.677e-05	0.0002	0.0622	0	0.0001	0.0034	0.0052	0.0046765	723	154602	rs34545913	0.0020	0.0020	0.0020	0.0021	0.0574	0.0020	0.0020	0.0554	0.0546	0.0002	0.0002	0.0018	0.0574	0	0.0005	4.947e-05	0.0037	0.0041	0.0023	0.0023	0.0021	0.0026	0.0590	0.0021	0.0021	0.0536	0.0515	0.0002	0	0.0001	0.0023	0.0590	9.423e-05	0	5.881e-05	0.0019	0.0044	0.085	0.32769	T	0.123	0.35582	T	0.794	0.44757	P	0.53	0.48544	P	0.742189	0.06434	N	1.158180	1	0.08975	N	0.935	0.23595	L	-1.68	0.82897	D	-3.35	0.66436	D	0.364	0.40565	-0.6645	0.62077	T	0.349	0.71297	T	10	0.0029919744	0.00049	T	.	.	.	0.428	0.73517	.	.	0.415690173769	0.41181	0.8155851231294357	0.81514	0.578793931238	0.53776	0.244436860085	0.03204	T	0.284531	0.65731	T	-0.375328	0.03333	T	-0.267119	0.48111	T	0.0668757962336005	0.08205	T	0.569643	0.20265	T	0.6019375	0.72795	0.6690644	0.80587	0.6019375	0.72796	0.6690644	0.80588	-5.656	0.43300	T	.	.	0.210	0.43801	B	.	.	0.498481	0.08677	5.448	0.91475449151892441	0.20748	0.13921	0.18125	N	AEFDBI	0.343075	0.43901	N	-1.18008433089736	0.05301	0.2413523	-1.3442591822043	0.03874	0.1815995	0.00676480460147261	0.11302	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.8	-4.74	0.03013	-0.460000	0.06797	-1.328000	0.05705	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1162:0.25:0.0:0.6338	8.464	0.32106	946	0.12043	Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.02632	2778.33	33	chr1	18854520	.	C	G	2778.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.294;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.7;ReadPosRankSum=0.684;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,73:157:99:0|1:18854520_C_G:2792,0,3248:18854520	18	0	1	0
chr1	21245077	21245077	T	C	exonic	ECE1	.	nonsynonymous SNV	ECE1:NM_001113347:exon8:c.A1154G:p.N385S,ECE1:NM_001113349:exon9:c.A1181G:p.N394S,ECE1:NM_001113348:exon10:c.A1142G:p.N381S,ECE1:NM_001397:exon10:c.A1190G:p.N397S	.	0	1513	8	1	0	10	0.00329381	.	.	.	761541	not_provided|ECE1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.116	.	.	0.00259585	0.0013	0	0.0003	0	0	0.0003	0.0011	0.0079	0.0011902	184	154602	rs145301395	0.0007	0.0007	0.0005	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	2.987e-05	0.0002	0.0008	0	0	0.0026	0.0002	0.0009	0.0077	0.0004	0.0004	0.0003	0.0005	0.0056	0.0003	0.0003	0.0039	0.0034	2.405e-05	0	0.0012	0.0003	0	0	0	0.0002	0.0005	0.0056	0.021	0.50676	D	0.115	0.40747	T	0.043	0.21573	B	0.016	0.21085	B	0.000000	0.84330	D	0.087520	0.999564	0.47592	D	1.08	0.27187	L	-0.69	0.72678	T	-1.61	0.39314	N	0.642	0.66615	-0.7970	0.55321	T	0.221	0.58459	T	10	0.012654036	0.00271	T	.	.	.	0.116	0.32463	.	.	0.683380910013	0.68067	0.2869067786071827	0.28603	0.51859878358	0.49709	0.37147206068	0.21044	T	0.337245	0.70666	T	-0.364525	0.03881	T	-0.291826	0.45582	T	0.0445283127503575	0.04517	T	0.953005	0.88325	D	0.22118284	0.44690	0.12763987	0.30722	0.2361329	0.46459	0.13934748	0.33250	-5.232	0.41111	T	0.15735805619011872	0.18996	0.132	0.31931	B	.;.;.;.;.;.	.;.;.;.;.;.	3.262486	0.44627	22.0	0.99678396845201622	0.79108	0.89477	0.49966	D	AEFDBHCI	0.688451	0.64945	D	-0.160813510615294	0.34777	1.989138	0.0108562006493672	0.40217	2.396702	0.999999993438619	0.74766	0.77792	0.99625	0	0.724815	0.89359	0	0.854111	0.99894	0	0.711	0.71501	0	.	.	5.55	4.41	0.52588	4.727000	0.61687	4.163000	0.42223	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.1483:0.8517	11.707	0.50866	315	0.87208	.;.;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain;Peptidase M13, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.006098	0.007576	0.02632	1414.33	34	chr1	21245077	.	T	C	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.695;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.219;SOR=0.633	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1428,0,1214	18	0	1	0
chr1	21833291	21833291	G	A	exonic	HSPG2	.	nonsynonymous SNV	HSPG2:NM_001291860:exon80:c.C11075T:p.T3692I,HSPG2:NM_005529:exon80:c.C11072T:p.T3691I	Dyssegmental dysplasia, Silverman-Handmaker type, Autosomal recessive;Schwartz-Jampel syndrome, type 1, Autosomal recessive	0	1495	27	0	0	27	0.00894929	.	.	.	280493	Lethal_Kniest-like_syndrome|Schwartz-Jampel_syndrome|not_provided|HSPG2-related_disorder|not_specified	MONDO:MONDO:0009140,MedGen:C1857100,OMIM:224410,Orphanet:1865|MONDO:MONDO:0009717,MedGen:C0036391,Orphanet:800|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.424	0.245285414436	0.0004	0.000998403	0.0011	0.0003	0.0004	0.0001	0	0.0008	0.0011	0.0044	0.0009767	151	154602	rs149159881	0.0008	0.0008	0.0006	0.0010	0.0050	0.0008	0.0008	0.0036	0.0035	0.0001	0.0003	0.0036	0	1.872e-05	0.0050	0.0006	0.0012	0.0039	0.0007	0.0007	0.0006	0.0008	0.0044	0.0006	0.0005	0.0029	0.0024	0.0002	0	0.0003	0.0040	0	0	0.0068	0.0007	0.0009	0.0044	0.009	0.57480	D	0.003	0.76473	D	0.985	0.61118	D	0.756	0.56253	P	0.029252	0.25481	N	0.190770	0.934839	0.37101	D	1.91	0.51138	L	-1.26	0.79176	T	-3.61	0.69477	D	0.63	0.64393	-0.2124	0.77351	T	0.408	0.75699	T	10	0.026100904	0.00785	T	0.245285	0.88879	D	0.424	0.73226	.	.	0.804346720858	0.80252	0.7205405142043676	0.71997	0.738424186528	0.63111	0.578872740269	0.49927	T	0.757462	0.93402	D	-0.301434	0.08525	T	-0.206047	0.54072	T	0.0420120737277858	0.04057	T	0.753825	0.37593	T	0.18076812	0.39214	0.2068992	0.44925	0.18076812	0.39213	0.2068992	0.44924	-7.952	0.60742	D	.	.	0.179	0.39029	B	.	.	4.625571	0.73491	26.0	0.99626276538485226	0.75716	0.94471	0.61272	D	AEFDBCI	0.661576	0.63175	D	0.298963999101559	0.56097	3.77389	0.2852595295617	0.54677	3.632083	0.254999135574149	0.18723	0.67177	0.52595	0	0.633656	0.55848	0	0.570548	0.19454	0	0.711	0.71501	0	.	.	4.81	2.68	0.30839	4.719000	0.61629	8.221000	0.76826	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0866:0.0:0.7638:0.1496	9.693	0.39308	862	0.33134	Laminin G domain|Laminin G domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004028	0.000000	0.009511	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1424.33	36	chr1	21833291	.	G	A	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.428;DP=856;ExcessHet=0;FS=7.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-0.19;SOR=1.487	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1438,0,1167	18	0	1	0
chr1	22005784	22005784	G	A	exonic	CELA3A	.	nonsynonymous SNV	CELA3A:NM_005747:exon4:c.G350A:p.C117Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.0818181723777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.46	0.36353	P	0.337	0.42281	B	.	.	.	.	0.998001	0.22522	N	-0.76	0.01693	N	-2.38	0.88298	D	-5.93	0.89029	D	0.471	0.50688	-0.5064	0.68417	T	0.457	0.78883	T	9	0.26712307	0.44222	T	0.081818	0.73766	D	0.285	0.60338	0.363	0.36874	0.415564226483	0.41173	0.8747902017327102	0.87445	0.56917265543	0.53102	.	.	.	0.437912	0.78376	T	-0.0119383	0.49994	T	-0.254925	0.49329	T	0.382179710809528	0.28266	T	0.19798	0.02209	T	0.17579228	0.38457	0.26548478	0.52382	0.17579228	0.38457	0.26548478	0.52381	-4.902	0.35757	T	.	.	0.805	0.77536	P	.	.	2.616842	0.34002	19.50	0.56137257275615593	0.05488	0.19460	0.20669	N	AEFDCI	0.210090	0.33601	N	-0.932174268958967	0.10095	0.4808459	-0.955439588999189	0.10797	0.546142	2.02033420824524E-4	0.05948	0.554377	0.28877	0	0.578056	0.33634	0	0.657636	0.52715	0	0.567892	0.33627	0	.	.	3.88	2.97	0.33479	1.471000	0.34973	6.436000	0.55643	-0.273000	0.06669	0.007000	0.17678	1.000000	0.68203	0.001000	0.02609	0.109:0.0:0.891:0.0	9.233	0.36609	664	0.61548	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	.	.	.	.	.	.	.	.	0.02632	710.33	47	chr1	22005784	.	G	A	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.348;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.396;SOR=0.698	GT:AD:DP:GQ:PL	0/1:29,26:55:99:724,0,786	18	0	1	0
chr1	22597359	22597359	C	T	exonic	EPHA8	.	nonsynonymous SNV	EPHA8:NM_020526:exon10:c.C1813T:p.P605S	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.0522748836214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.064	0.44905	T	0.997	0.70673	D	0.79	0.57710	P	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	2.455	0.71248	M	-0.9	0.74896	T	-2.23	0.50012	N	0.63	0.64393	0.061	0.83455	D	0.491	0.80688	T	10	0.6463162	0.69347	D	0.052275	0.65005	D	0.387	0.70358	0.327	0.31034	0.801595811332	0.79974	0.4495379721540319	0.44871	0.810157115284	0.66698	0.512233734131	0.40534	T	0.129901	0.45846	T	0.0346306	0.56339	T	-0.188032	0.55774	T	0.964676201343536	0.67030	D	0.751525	0.37371	T	0.45069155	0.64084	0.45290092	0.68178	0.45069155	0.64085	0.45290092	0.68178	-4.782	0.34380	T	.	.	0.083	0.09045	B	.	.	4.357734	0.66984	25.0	0.99900138884275202	0.97199	0.98298	0.81385	D	AEFBI	0.614927	0.60206	D	0.505443720522396	0.67412	5.078088	0.424152977128027	0.63073	4.534066	0.0934165184268223	0.16182	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.63	4.63	0.57175	4.608000	0.60847	2.710000	0.34229	0.549000	0.26987	1.000000	0.71638	0.074000	0.22270	0.954000	0.50415	0.0:0.8269:0.1731:0.0	12.141	0.53300	889	0.27310	Ephrin receptor, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1768.33	33	chr1	22597359	.	C	T	1768.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.904;DP=793;ExcessHet=0;FS=1.278;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.594;SOR=0.558	GT:AD:DP:GQ:PL	0/1:79,77:156:99:1782,0,1990	18	0	1	0
chr1	24086758	24086758	C	T	exonic	MYOM3	.	nonsynonymous SNV	MYOM3:NM_152372:exon15:c.G1684A:p.V562I	.	412	1108	2	0	0	2	0.000901713	.	.	.	804983	Flexion_contracture	Human_Phenotype_Ontology:HP:0001371,Human_Phenotype_Ontology:HP:0001372,Human_Phenotype_Ontology:HP:0001381,Human_Phenotype_Ontology:HP:0005053,Human_Phenotype_Ontology:HP:0005189,Human_Phenotype_Ontology:HP:0005660,MedGen:C0333068	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.0175336235919	0.0002	0.000399361	0.0001	0.0008	0.0004	0.0001	0	1.499e-05	0	0.0001	0.0001294	20	154602	rs183173497	4.72e-05	4.72e-05	4.356e-05	5.088e-05	0.0008	3.794e-05	3.476e-05	0.0005	0.0005	0.0008	0.0001	0	5.038e-05	1.872e-05	0.0005	1.439e-05	6.623e-05	0.0001	0.0002	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0	0	0	2.94e-05	0	0	0.089	0.32141	T	0.172	0.30241	T	0.275	0.31898	B	0.046	0.24676	B	0.001893	0.37740	N	0.264606	0.990563	0.24154	N	1.58	0.39772	L	0.28	0.59037	T	0.13	0.05503	N	0.071	0.04426	-0.7330	0.58812	T	0.225	0.58919	T	10	0.02264753	0.00571	T	0.017534	0.39265	T	0.087	0.25287	.	.	0.333906830038	0.33007	0.18123013235644186	0.18042	0.0994019885817	0.11232	0.250005125999	0.03768	T	0.003931	0.03343	T	-0.485869	0.00685	T	-0.521134	0.20180	T	0.0717550869581953	0.08895	T	0.59644	0.22167	T	0.07702463	0.17455	0.09848128	0.23479	0.07702463	0.17455	0.09848128	0.23478	-5.77	0.44312	T	.	.	0.144	0.31683	B	.	.	2.044832	0.25992	16.96	0.98819600674877017	0.46753	0.68967	0.34004	D	AEFDGBI	0.268804	0.38522	N	-0.090879200066524	0.37793	2.203831	-0.0471029177619404	0.37616	2.204879	0.974916164924934	0.29586	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.68	3.78	0.42629	1.721000	0.37654	6.592000	0.56029	-0.789000	0.03264	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.2829:0.7171:0.0	14.540	0.67579	405	0.82444	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2326.33	42	chr1	24086758	.	C	T	2326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=931;ExcessHet=0;FS=3.763;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.654;SOR=0.838	GT:AD:DP:GQ:PL	0/1:126,99:225:99:2340,0,2949	18	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	32577.0	38	chr1	26282323	.	A	*	32577.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.299;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=5;MLEAF=0.132;MQ=59.94;MQRankSum=0;QD=30.05;ReadPosRankSum=0.454;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,9:60:99:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:2659,2121,2112:26282320	14	0	5	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7332.91	43	chr1	26282357	.	CTGGGGCCGGG	*	7332.91	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.79;DP=974;ExcessHet=0.0637;FS=12.324;InbreedingCoeff=0.3518;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=0.699;SOR=1.5	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,37:66:99:0|1:26282357_CTGGGGCCGGG_*:2893,1222,1098:26282357	9	4	6	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	17994.5	37	chr1	26282374	.	ACC	*	17994.5	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.73;DP=1069;ExcessHet=0.0541;FS=10.717;InbreedingCoeff=0.1965;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=23.31;ReadPosRankSum=1.35;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,29:71:99:0|1:26282357_CTGGGGCCGGG_*:1119,0,1215:26282357	8	0	8	3
chr1	28742692	28742692	G	A	exonic	YTHDF2	.	nonsynonymous SNV	YTHDF2:NM_001172828:exon3:c.G272A:p.G91E,YTHDF2:NM_016258:exon4:c.G422A:p.G141E,YTHDF2:NM_001173128:exon5:c.G422A:p.G141E	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.0435313814451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.967	0.56408	D	0.721	0.54900	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.975	0.53506	M	0.33	0.58323	T	-4.88	0.81350	D	0.896	0.89577	-0.2721	0.75755	T	0.358	0.72022	T	10	0.5935905	0.66517	D	0.043531	0.61033	D	0.427	0.73445	0.149	0.05238	0.518106105948	0.51454	0.9272307967262285	0.92701	1.79519715807	0.91566	0.885727643967	0.94717	D	0.083126	0.60613	T	0.335881	0.85558	D	0.244694	0.85368	D	0.995035290718079	0.86718	D	0.927907	0.73422	D	0.9297093	0.94208	0.9080837	0.95552	0.9297093	0.94208	0.9080837	0.95553	-6.407	0.49564	T	.	.	0.550	0.75962	A	.;.;.;.;.	.;.;.;.;.	5.183133	0.86912	29.1	0.99690904787807388	0.79909	0.96853	0.71294	D	AEFDGBCI	0.939371	0.93989	D	0.76296009998889	0.83747	8.098913	0.753209701184853	0.86397	8.875923	0.999999999985495	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.18	5.18	0.71140	7.906000	0.86803	11.874000	0.98652	0.613000	0.49114	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.886	0.88770	406	0.82375	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1686.33	40	chr1	28742692	.	G	A	1686.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.949;DP=817;ExcessHet=0;FS=6.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.151;SOR=0.518	GT:AD:DP:GQ:PL	0/1:90,69:159:99:1700,0,2470	18	0	1	0
chr1	31630678	31630678	C	T	exonic	PEF1	.	nonsynonymous SNV	PEF1:NM_001359651:exon5:c.G580A:p.V194I,PEF1:NM_012392:exon5:c.G790A:p.V264I	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0322941109451	.	.	1.651e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs749213335	9.58e-06	9.577e-06	8.17e-06	1.1e-05	2.319e-05	5.56e-06	4.35e-06	3.85e-06	2.76e-06	0	2.236e-05	0	0	0	0	8.093e-06	3.314e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.352	0.17372	T	0.292	0.32352	B	0.157	0.34536	B	0.000029	0.55875	D	0.182237	1	0.81001	D	0.69	0.16971	N	-2.61	0.89953	D	-0.28	0.11547	N	0.083	0.05929	-0.7371	0.58601	T	0.373	0.73197	T	10	0.112713546	0.21150	T	0.032294	0.54161	D	0.137	0.36984	0.384	0.40298	0.796836870525	0.79494	0.21046161801998248	0.20962	0.263583704205	0.28913	0.316879570484	0.12948	T	0.033702	0.23022	T	-0.0867564	0.38611	T	-0.34691	0.39559	T	0.123238015708055	0.14744	T	0.886711	0.61387	D	0.033587255	0.03606	0.0372023	0.03324	0.033587255	0.03606	0.0372023	0.03324	-4.114	0.25496	T	.	.	0.093	0.14062	B	.	.	2.845102	0.37545	20.5	0.9830498106327249	0.40087	0.34025	0.24969	N	AEFBI	0.088939	0.18029	N	-0.567102313601807	0.19950	1.048148	-0.514844502436166	0.21749	1.178075	0.98629197340845	0.31038	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.92	0.898	0.18397	1.055000	0.30077	0.756000	0.21276	0.599000	0.40250	0.707000	0.28693	0.243000	0.23865	0.997000	0.79791	0.0:0.3482:0.3266:0.3252	4.134	0.09630	735	0.53711	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1266.33	40	chr1	31630678	.	C	T	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.061;DP=824;ExcessHet=0;FS=4.367;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.896;SOR=0.86	GT:AD:DP:GQ:PL	0/1:70,52:122:99:1280,0,1779	18	0	1	0
chr1	37689816	37689816	T	C	exonic	C1orf109	.	nonsynonymous SNV	C1orf109:NM_001303030:exon2:c.A251G:p.E84G,C1orf109:NM_001303031:exon2:c.A254G:p.E85G,C1orf109:NM_001350755:exon2:c.A254G:p.E85G,C1orf109:NM_001350756:exon2:c.A251G:p.E84G,C1orf109:NM_001350760:exon2:c.A65G:p.E22G,C1orf109:NM_001350761:exon2:c.A65G:p.E22G,C1orf109:NM_001350764:exon2:c.A65G:p.E22G,C1orf109:NM_001350769:exon2:c.A65G:p.E22G,C1orf109:NM_001350770:exon2:c.A65G:p.E22G,C1orf109:NM_001350771:exon2:c.A65G:p.E22G,C1orf109:NM_017850:exon2:c.A65G:p.E22G,C1orf109:NM_001350757:exon3:c.A254G:p.E85G,C1orf109:NM_001350759:exon3:c.A251G:p.E84G,C1orf109:NM_001350766:exon3:c.A65G:p.E22G,C1orf109:NM_001350768:exon3:c.A65G:p.E22G,C1orf109:NM_001350758:exon4:c.A251G:p.E84G,C1orf109:NM_001350762:exon4:c.A65G:p.E22G,C1orf109:NM_001350763:exon4:c.A65G:p.E22G,C1orf109:NM_001350765:exon4:c.A65G:p.E22G,C1orf109:NM_001350767:exon4:c.A65G:p.E22G	.	426	1085	11	0	0	11	0.00504356	.	.	.	2251460	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.00375101218661	0.0005	0.000599042	0.0006	0.0014	0.0011	0	0	0.0004	0.0012	0.0010	0.0005498	85	154602	rs148859861	0.0005	0.0005	0.0004	0.0005	0.0017	0.0004	0.0004	0.0013	0.0012	0.0017	0.0008	3.837e-05	0	0.0002	0.0005	0.0004	0.0005	0.0010	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0	0.0003	0	0	0.0006	0.0068	0.0004	0.0005	0.0008	0.005	0.63226	D	0.008	0.69154	D	0.51	0.37313	P	0.295	0.40843	B	0.079175	0.21000	N	0.534882	0.994911	0.23414	N	2.62	0.76659	M	.	.	.	-4.02	0.74269	D	0.246	0.27792	-0.9949	0.31326	T	0.112	0.40122	T	9	0.019885123	0.00450	T	0.003751	0.08713	T	0.065	0.18881	.	.	0.482357354261	0.47867	0.24656529055381673	0.24570	0.446814636077	0.44548	.	.	.	0.249044	0.61893	T	-0.389662	0.02704	T	-0.373032	0.36533	T	0.0370971271246813	0.03172	T	0.705629	0.33902	T	0.2671308	0.49784	0.33372772	0.59206	0.2671308	0.49784	0.33372772	0.59206	-5.023	0.37089	T	.	.	0.091	0.18372	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.055667	0.41018	21.3	0.99824226208270916	0.90677	0.55033	0.29763	D	ALL	0.176235	0.30344	N	-0.0177359974260688	0.41053	2.448763	-0.025940280019742	0.38547	2.273	1.0	0.98316	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.241949	0.04745	2	.	.	5.34	2.92	0.32998	0.488000	0.22080	1.543000	0.27241	0.665000	0.62972	0.099000	0.22773	0.967000	0.29559	0.930000	0.46718	0.0:0.0:0.2904:0.7096	11.314	0.48617	880	0.29376	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	626.33	42	chr1	37689816	.	T	C	626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.609;DP=707;ExcessHet=0;FS=2.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.42;SOR=1.144	GT:AD:DP:GQ:PL	0/1:31,24:55:99:640,0,871	18	0	1	0
chr1	37727166	37727166	C	T	exonic	EPHA10	.	nonsynonymous SNV	EPHA10:NM_001099439:exon8:c.G1708A:p.V570I	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00610799606418	8e-05	.	0.0003	0	8.717e-05	0.0001	0	0.0004	0.0012	0.0002	0.0002975	46	154602	rs200982956	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	0.0001	2.246e-05	0	0	0.0002	0.0003	0.0004	0.0004	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0002	0.0002	0.0003	0.0002	7.215e-05	0	6.535e-05	0	0	0.0006	0.0034	0.0004	0	0.0004	0.537	0.09958	T	0.644	0.34124	T	0.011	0.15914	B	0.005	0.11217	B	0.001567	0.38612	N	0.000000	0.998582	0.22057	N	0.575	0.15311	N	2.9	0.10101	T	-0.38	0.13418	N	0.142	0.14196	-0.9938	0.31617	T	0.020	0.08500	T	10	0.07197809	0.10683	T	0.006108	0.15993	T	0.014	0.01968	.	.	0.341696514166	0.33777	0.448496441275503	0.44767	0.0901717964492	0.10168	0.415615171194	0.27233	T	0.00637	0.05804	T	-0.517031	0.00458	T	-0.658489	0.08369	T	0.0124352651515167	0.00204	T	0.708229	0.31875	T	0.06178388	0.12834	0.06495167	0.13095	0.06178388	0.12833	0.06495167	0.13095	-4.399	0.29544	T	.	.	0.098	0.18539	B	.;.;.	.;.;.	3.145310	0.42554	21.6	0.97645758596437127	0.35108	0.67181	0.33340	D	AEFDBI	0.129164	0.24723	N	-0.363897837231957	0.26765	1.463222	-0.222265834056156	0.30739	1.733414	0.12022562071644	0.16863	0.57788	0.32782	0	0.563428	0.19063	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	4.75	2.7	0.31007	2.185000	0.42215	4.796000	0.44934	0.599000	0.40250	0.965000	0.33920	1.000000	0.68203	0.998000	0.85391	0.0:0.8023:0.0:0.1977	9.067	0.35632	869	0.31655	Ephrin receptor, transmembrane domain;Ephrin receptor, transmembrane domain;Ephrin receptor, 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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	905.33	33	chr1	37727166	.	C	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.499;DP=702;ExcessHet=0;FS=1.868;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.663;SOR=0.572	GT:AD:DP:GQ:PL	0/1:38,39:77:99:919,0,856	18	0	1	0
chr1	37969440	37969440	G	C	exonic	SF3A3	.	nonsynonymous SNV	SF3A3:NM_001320830:exon12:c.C1036G:p.L346V,SF3A3:NM_006802:exon14:c.C1195G:p.L399V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.0404402354651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	.	.	.	-2.62	0.56301	D	0.735	0.73555	0.330	0.88030	D	0.601	0.85821	D	9	0.8010634	0.79507	D	0.04044	0.59376	D	0.695	0.88960	0.666	0.80401	0.502157479645	0.49853	0.9475430450175392	0.94737	2.2311931778	0.95933	0.866872191429	0.92117	D	0.474386	0.80585	T	0.382666	0.88879	D	0.311897	0.88739	D	0.968859957868249	0.68386	D	0.985781	0.95172	D	0.83350277	0.86148	0.68840945	0.81671	0.83350277	0.86150	0.68840945	0.81671	-10.738	0.78201	D	.	.	0.999	0.98631	P	.	.	5.166724	0.86585	29.0	0.99865253356157146	0.94366	0.98916	0.88583	D	AEFBI	0.696538	0.65485	D	0.88846885093404	0.91182	10.756	0.81904994074954	0.91085	10.71129	0.999999998534391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.656000	0.61178	11.718000	0.94767	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.786	0.96436	458	0.78890	Domain of unknown function DUF3449	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.09375	114.79	73	chr1	37969440	.	G	C	114.79	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.033;DP=1553;ExcessHet=0.3672;FS=233.351;InbreedingCoeff=-0.1431;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=0.301;SOR=11.486	GT:AD:DP:GQ:PL	0/1:42,25:79:77:77,0,864	13	0	3	3
chr1	52028605	52028605	G	C	exonic	TXNDC12	.	nonsynonymous SNV	TXNDC12:NM_015913:exon3:c.C184G:p.H62D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.0715064213812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.84e-07	0	1.376e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.19	0.88972	M	0.64	0.52867	T	-8.72	0.97670	D	0.966	0.97643	-0.2568	0.76174	T	0.364	0.72460	T	10	0.97410494	0.97109	D	0.071506	0.71286	D	0.704	0.89376	0.911	0.98230	0.799838189349	0.79797	0.9728267744604489	0.97271	1.36873852786	0.84485	0.872190654278	0.92880	D	0.229648	0.59552	T	0.336408	0.85595	D	0.24545	0.85406	D	0.999423623085022	0.97351	D	0.905209	0.66592	D	0.95403016	0.96676	0.93610364	0.97509	0.95403016	0.96676	0.93610364	0.97510	-14.006	0.93075	D	.	.	0.996	0.95832	P	.	.	4.960215	0.82006	27.7	0.99400465475260924	0.62794	0.98682	0.85525	D	AEFDGBI	0.893002	0.83050	D	0.930430023163355	0.93168	11.86502	0.885220496955778	0.94895	13.13366	0.999999999999004	0.74766	0.744818	0.98587	0	0.732433	0.95613	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.6	5.6	0.84997	8.126000	0.89466	11.781000	0.96113	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:1.0:0.0	17.782	0.88438	459	0.78817	Thioredoxin, conserved site|Thioredoxin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1041.33	35	chr1	52028605	.	G	C	1041.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=707;ExcessHet=0;FS=1.938;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.25;SOR=1.001	GT:AD:DP:GQ:PL	0/1:33,41:74:99:1055,0,678	18	0	1	0
chr1	55154696	55154696	T	C	exonic	USP24	.	nonsynonymous SNV	USP24:NM_015306:exon13:c.A1529G:p.N510S	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.00697706744202	.	.	2.52e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs756113120	1.916e-05	1.915e-05	5.447e-06	3.302e-05	0.0003	1.329e-05	1.144e-05	0.0002	0.0002	2.99e-05	4.477e-05	0	0	0	0	0	1.657e-05	0.0003	6.568e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.121	0.27783	T	0.763	0.04587	T	.	.	.	.	.	.	0.000264	0.46590	D	0.181162	0.852548	0.28475	N	0	0.06538	N	-0.11	0.64445	T	-1.55	0.37566	N	0.142	0.14196	-0.9758	0.35948	T	0.142	0.46367	T	10	0.13287562	0.25290	T	0.006977	0.18485	T	0.128	0.35103	.	.	0.0934897674506	0.08844	0.10008607447380946	0.09939	0.350614326612	0.36913	0.609346270561	0.54222	T	0.069516	0.33728	T	-0.447395	0.01170	T	-0.580105	0.14536	T	0.0534459154021073	0.06095	T	0.912709	0.68911	D	0.040101092	0.05660	0.06602454	0.13465	0.040101092	0.05660	0.06602454	0.13465	-3.214	0.12652	T	.	.	0.055	0.00412	B	.	.	2.607810	0.33864	19.46	0.98765116250848206	0.45878	0.89756	0.50428	D	AEFBI	0.201260	0.32793	N	-0.437255505255364	0.24174	1.303446	-0.195383869590367	0.31705	1.796846	0.91404740205314	0.26442	0.706548	0.73137	0	0.653731	0.59785	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.75	3.4	0.38031	2.723000	0.46947	4.241000	0.42707	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.2029:0.1574:0.6397	4.735	0.12360	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	.	.	.	.	.	.	.	.	0.02632	1326.33	34	chr1	55154696	.	T	C	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.733;DP=747;ExcessHet=0;FS=1.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-0.179;SOR=0.843	GT:AD:DP:GQ:PL	0/1:37,55:92:99:1340,0,772	18	0	1	0
chr1	56886031	56886031	G	T	exonic	C8A	.	nonsynonymous SNV	C8A:NM_000562:exon7:c.G960T:p.E320D	C8 deficiency, type I, Autosomal recessive	0	1506	15	1	0	17	0.00561241	.	.	.	696805	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.349	0.0607853204078	0.0012	0.000798722	0.0018	0.0002	0.0008	0	0.0002	0.0016	0.0011	0.0058	0.0016429	254	154602	rs147513844	0.0018	0.0018	0.0016	0.0020	0.0061	0.0018	0.0017	0.0057	0.0055	0.0003	0.0007	3.827e-05	0	0.0001	0.0028	0.0018	0.0016	0.0061	0.0012	0.0012	0.0012	0.0011	0.0037	0.0010	0.0010	0.0024	0.0020	0.0002	0	0.0010	0	0	0.0003	0.0034	0.0019	0.0005	0.0037	0.258	0.16683	T	0.302	0.20228	T	0.545	0.37995	P	0.324	0.41853	B	0.000000	0.84330	D	0.088480	0.98512	0.40239	D	2.205	0.62170	M	-1.83	0.84122	D	-1.68	0.40082	N	0.104	0.08786	-0.5478	0.66870	T	0.453	0.78644	T	10	0.0158647	0.00333	T	0.060785	0.68116	D	0.349	0.67049	0.436	0.48828	0.875609160862	0.87439	0.5981419899965553	0.59745	0.0629304990889	0.07006	0.401931136847	0.25337	T	0.03553	0.23754	T	-0.442803	0.01245	T	-0.406221	0.32662	T	0.0434296188685264	0.04317	T	0.759724	0.38410	T	0.51760286	0.68122	0.32596713	0.58508	0.51760286	0.68123	0.32596713	0.58507	-3.493	0.16334	T	.	.	0.126	0.26794	B	.	.	1.467790	0.18910	13.99	0.99188904747875573	0.54906	0.85427	0.44558	D	AEFI	0.742564	0.68615	D	-0.340645287048607	0.27617	1.516683	-0.306852004701799	0.27876	1.550035	0.00225419971606588	0.09270	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.04	-0.0504	0.13160	0.139000	0.15858	1.539000	0.27214	-0.106000	0.15538	0.979000	0.35152	1.000000	0.68203	0.876000	0.41813	0.4361:0.1098:0.4542:0.0	7.003	0.24002	939	0.14249	Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) domain|Membrane attack complex component/perforin (MACPF) 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	1	0	1	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.011364	0.05263	2973.83	33	chr1	56886031	.	G	T	2973.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.301;DP=888;ExcessHet=0.119;FS=0.439;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=0.896;SOR=0.743	GT:AD:DP:GQ:PL	0/1:81,50:131:99:1102,0,2053	17	0	2	0
chr1	61827513	61827513	G	A	exonic	PATJ	.	nonsynonymous SNV	PATJ:NM_001350145:exon16:c.G1910A:p.R637Q,PATJ:NM_176877:exon16:c.G1910A:p.R637Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0811438861263	.	0.000399361	3.295e-05	0	8.642e-05	0	0	1.499e-05	0	0.0001	3.88e-05	6	154602	rs201550049	2.941e-05	2.941e-05	2.45e-05	3.438e-05	0.0002	2.216e-05	1.97e-05	0.0001	0.0001	2.987e-05	2.236e-05	0	0	0	0.0002	1.619e-05	8.279e-05	0.0002	1.972e-05	1.969e-05	1.286e-05	2.69e-05	6.551e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.94e-05	0	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000012	0.62929	D	0.000000	0.999999	0.58761	D	3.03	0.86425	M	0.56	0.54540	T	-3.68	0.70314	D	0.851	0.91047	-0.3240	0.74310	T	0.363	0.72384	T	10	0.70773906	0.72846	D	0.081144	0.73617	D	0.557	0.81774	.	.	0.721145682353	0.71869	0.8502472850887541	0.84986	0.68504084129	0.60259	0.664195537567	0.62009	T	0.270377	0.66684	T	0.0917753	0.63389	D	0.130721	0.78939	D	0.935129284858704	0.60311	D	0.970903	0.89563	D	0.619347	0.73728	0.53426534	0.73088	0.619347	0.73729	0.53426534	0.73089	-10.428	0.76432	D	.	.	0.471	0.63214	A	.;.;.;.	.;.;.;.	5.694678	0.93079	33	0.99961308309640151	0.99997	0.99492	0.96688	D	AEFBI	0.869670	0.79030	D	0.858436364716182	0.89583	10.03174	0.845739562006491	0.92766	11.61827	0.999999983608006	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.63	5.63	0.86108	8.316000	0.89903	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.682	0.95963	856	0.34373	PDZ domain|PDZ domain;PDZ domain|PDZ domain;PDZ domain|PDZ domain;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1434.33	34	chr1	61827513	.	G	A	1434.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.643;DP=757;ExcessHet=0;FS=0.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-0.69;SOR=0.807	GT:AD:DP:GQ:PL	0/1:72,63:135:99:1448,0,1635	18	0	1	0
chr1	67338653	67338653	A	T	exonic	IL12RB2	.	nonsynonymous SNV	IL12RB2:NM_001258215:exon8:c.A988T:p.M330L,IL12RB2:NM_001258216:exon8:c.A988T:p.M330L,IL12RB2:NM_001559:exon8:c.A988T:p.M330L,IL12RB2:NM_001258214:exon9:c.A988T:p.M330L,IL12RB2:NM_001319233:exon9:c.A988T:p.M330L,IL12RB2:NM_001374259:exon9:c.A988T:p.M330L	.	419	1102	1	0	0	1	0.000453515	.	.	.	1343675	IL12RB2-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.013	0.00383624063409	0.0004	0.000199681	0.0006	0.0005	0.0020	0.0001	0.0003	0.0006	0	6.057e-05	0.0005563	86	154602	rs150877640	0.0004	0.0004	0.0004	0.0005	0.0030	0.0004	0.0004	0.0019	0.0016	0.0008	0.0017	0.0015	0	0.0003	0.0030	0.0004	0.0006	4.699e-05	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0003	0.0008	0.0007	0.0003	0.0055	0.0012	0.0014	0	0	0	0.0004	0.0014	0.0002	0.5	0.17239	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.848863	0.07044	N	1.063550	0.999991	0.08975	N	1.445	0.36358	L	0.71	0.51228	T	-0.63	0.19933	N	0.245	0.33687	-1.0105	0.26760	T	0.027	0.11663	T	10	0.0057055354	0.00127	T	0.003836	0.08961	T	0.059	0.16972	0.684	0.82175	0.298745278005	0.29478	0.19224443982778164	0.19142	0.122856019318	0.13844	0.298953711987	0.10245	T	0.06843	0.33456	T	-0.559545	0.00255	T	-0.589754	0.13687	T	0.00400107801468078	0.00042	T	0.624837	0.40643	T	0.08723208	0.20304	0.0895667	0.20952	0.08723208	0.20304	0.0895667	0.20951	-2.773	0.17482	T	.	.	0.099	0.19720	B	.;.;.;.;.	.;.;.;.;.	0.311019	0.06862	3.393	0.77810031052050166	0.12032	0.02792	0.07507	N	AEFGBHCI	0.064447	0.12515	N	-1.41887447293301	0.02473	0.109261	-1.43484381998801	0.02910	0.1347671	0.999999469571621	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	4.92	-3.9	0.03904	-0.137000	0.10369	-0.369000	0.09620	-0.577000	0.04723	0.003000	0.16062	0.000000	0.08366	0.609000	0.31615	0.2604:0.4948:0.2447:0.0	7.050	0.24245	740	0.53092	Fibronectin type III;.;Fibronectin type III;.;Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.009511	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	1570.33	38	chr1	67338653	.	A	T	1570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.78;DP=747;ExcessHet=0;FS=5.599;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=-1.021;SOR=0.487	GT:AD:DP:GQ:PL	0/1:56,64:120:99:1584,0,1309	18	0	1	0
chr1	68438977	68438977	A	C	exonic	RPE65	.	nonsynonymous SNV	RPE65:NM_000329:exon9:c.T963G:p.N321K	Leber congenital amaurosis 2, Autosomal recessive;Retinitis pigmentosa 20, Autosomal recessive	0	1482	40	0	0	40	0.0133156	.	.	YES	98767	Leber_congenital_amaurosis|Retinitis_pigmentosa|Joubert_syndrome_9|not_provided|Retinitis_pigmentosa_20|Leber_congenital_amaurosis_2|RPE65-related_recessive_retinopathy|not_specified	MONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000,Orphanet:65|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285,Orphanet:2318|MedGen:C3661900|MONDO:MONDO:0013425,MedGen:C3151086,OMIM:613794,Orphanet:791|MONDO:MONDO:0008765,MedGen:C1859844,OMIM:204100,Orphanet:65|MONDO:MONDO:0100368,MedGen:CN305526|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.215	.	0.0008	0.00499201	0.0054	0.0003	0.0013	0.0001	0	0.0012	0.0088	0.0328	0.0045278	700	154602	rs149916178	0.0028	0.0028	0.0016	0.0039	0.0357	0.0027	0.0027	0.0346	0.0342	0.0001	0.0011	0.0043	2.52e-05	1.872e-05	0.0090	0.0005	0.0026	0.0357	0.0014	0.0014	0.0008	0.0021	0.0280	0.0013	0.0012	0.0242	0.0227	9.628e-05	0	0.0008	0.0060	0.0004	0	0	0.0006	0.0019	0.0280	0.075	0.34444	T	0.146	0.32891	T	0.013	0.16609	B	0.027	0.21085	B	0.000617	0.42945	D	0.265288	0.999999	0.08975	N	1.575	0.39704	L	-3.49	0.94621	D	-1.32	0.32991	N	0.416	0.45615	-0.3705	0.72946	T	0.503	0.81256	D	10	0.011144489	0.00245	T	.	.	.	0.215	0.50805	0.835	0.94294	0.775488474258	0.77342	0.5935617026209556	0.59286	0.0643189233085	0.07168	0.274915516376	0.06793	T	0.72609	0.92296	D	-0.37845	0.03186	T	-0.290632	0.45707	T	0.00814690459576519	0.00097	T	0.927007	0.73102	D	0.18744066	0.40198	0.21505415	0.46079	0.18744066	0.40198	0.21505415	0.46079	-5.8	0.44574	T	0.21033390043485128	0.28177	0.121	0.25166	B	.	.	1.060416	0.14419	11.00	0.94426477776346773	0.24837	0.45798	0.27618	N	AEFBI	0.139898	0.26164	N	-0.9372702875546	0.09980	0.4748083	-0.892985305148867	0.12260	0.629581	0.607420407576686	0.21776	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.87	-0.301	0.12165	0.135000	0.15775	0.067000	0.14209	-0.562000	0.04833	0.889000	0.31176	0.000000	0.08366	0.953000	0.50222	0.4224:0.0:0.5776:0.0	9.370	0.37408	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	0.006546	0.000000	0.004076	0.000000	0.050000	0.008621	0.012195	0.018939	0.02632	1189.33	33	chr1	68438977	.	A	C	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.833;DP=720;ExcessHet=0;FS=0.758;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.764;SOR=0.842	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1203,0,1317	18	0	1	0
chr1	74572994	74572994	T	C	exonic	ERICH3	.	nonsynonymous SNV	ERICH3:NM_001002912:exon14:c.A2716G:p.N906D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00996094648401	.	0.00119808	0.0006	0	0	0	0	1.498e-05	0	0.0043	0.0005304	82	154602	rs533537276	0.0003	0.0003	0.0002	0.0004	0.0042	0.0003	0.0002	0.0039	0.0037	0	0	0	2.519e-05	0	0	1.439e-05	0.0003	0.0042	0.0002	0.0002	8.994e-05	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	0	0	0	0	0	0	0	2.94e-05	0	0.0052	0.699	0.04188	T	0.532	0.10034	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.72	0.11947	T	-0.78	0.21644	N	0.054	0.02559	-0.9008	0.47910	T	0.004	0.01435	T	9	0.0061151087	0.00138	T	0.009961	0.25923	T	0.008	0.00669	0.304	0.27325	0.0482279557977	0.04254	0.025725490457458065	0.02523	0.0192408906969	0.01881	.	.	.	0.010644	0.09594	T	-0.765103	0.00014	T	-0.87295	0.00715	T	0.00496961474782011	0.00054	T	0.349965	0.07784	T	0.044712055	0.07196	0.05568817	0.09815	0.044712055	0.07196	0.05568817	0.09814	-2.243	0.04254	T	.	.	0.086	0.10497	B	.	.	-0.785266	0.01135	0.053	0.78359934591465441	0.12267	0.02503	0.06991	N	AEFBI	0.056258	0.10386	N	-1.51371430756842	0.01759	0.07703657	-1.51605822007916	0.02220	0.1017886	2.64866370166672E-5	0.03498	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.97	-2.62	0.05793	-1.240000	0.03024	-1.612000	0.05062	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4516:0.1378:0.4106	7.344	0.25827	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2833.33	42	chr1	74572994	.	T	C	2833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.435;DP=975;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.17;ReadPosRankSum=0.99;SOR=0.733	GT:AD:DP:GQ:PL	0/1:97,103:200:99:2847,0,2899	18	0	1	0
chr1	75137202	75137202	C	G	exonic	LHX8	.	nonsynonymous SNV	LHX8:NM_001256114:exon3:c.C178G:p.P60A,LHX8:NM_001001933:exon4:c.C208G:p.P70A	.	411	1108	3	0	0	3	0.00135196	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	.	.	0.00199681	0.0009	0	8.914e-05	0	0	0	0	0.0064	0.0007503	116	154602	rs549689179	0.0004	0.0004	0.0002	0.0005	0.0058	0.0003	0.0003	0.0053	0.0052	2.987e-05	0	0	0	0	0.0005	3.597e-06	0.0006	0.0058	0.0003	0.0003	0.0001	0.0004	0.0087	0.0002	0.0002	0.0066	0.0059	0	0	0	0	0	0	0	0	0	0.0087	0.976	0.11298	T	0.636	0.07059	T	0.088	0.25022	B	0.014	0.16862	B	0.025561	0.26069	N	0.394048	0.837388	0.35012	D	0.695	0.17993	N	-2.16	0.86549	D	-0.57	0.17210	N	0.253	0.28616	-0.9552	0.40060	T	0.172	0.51405	T	10	0.0038308203	0.00072	T	.	.	.	0.192	0.47115	0.27	0.21893	0.532439499797	0.52892	0.22040139921421925	0.21955	0.486956436391	0.47534	0.374518841505	0.21477	T	0.069631	0.33758	T	-0.331458	0.06002	T	-0.246142	0.50197	T	0.0175398925812306	0.00488	T	0.687031	0.29593	T	0.084825054	0.19650	0.12125701	0.29258	0.084825054	0.19650	0.12125701	0.29258	-3.783	0.22152	T	.	.	0.048	0.00127	B	.;.	.;.	0.917225	0.12921	9.428	0.7833638165527842	0.12257	0.46304	0.27730	N	AEFDBHCI	0.234871	0.35756	N	-0.775627960513897	0.13947	0.6908889	-0.645904106115447	0.18319	0.9781313	0.999943475862224	0.47345	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.03	3.15	0.35301	0.468000	0.21763	0.010000	0.13426	0.524000	0.24156	0.000000	0.06391	0.001000	0.17328	0.994000	0.71098	0.0:0.8393:0.0:0.1607	9.943	0.40758	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1586.33	33	chr1	75137202	.	C	G	1586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.74;DP=785;ExcessHet=0;FS=1.304;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.937;SOR=0.814	GT:AD:DP:GQ:PL	0/1:86,62:148:99:1600,0,2003	18	0	1	0
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K,NEXN:NM_144573:exon11:c.G1424A:p.R475K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	184.09	42	chr1	77935995	.	G	A	184.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.054;DP=725;ExcessHet=0.7564;FS=181.459;InbreedingCoeff=-0.1272;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=0.411;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,6:45:11:.:.:46,0,1109:.	17	0	2	0
chr1	85045162	85045162	T	C	exonic	MCOLN3	.	nonsynonymous SNV	MCOLN3:NM_001253693:exon2:c.A199G:p.I67V,MCOLN3:NM_018298:exon2:c.A199G:p.I67V	.	.	.	.	.	.	.	.	.	.	.	3288954	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.160	0.0184891491712	.	0.000399361	6.646e-05	0	0	0	0	0	0	0.0005	6.47e-05	10	154602	rs199633578	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0004	1.61e-05	1.417e-05	0.0003	0.0002	0	0	0	0	0	0	0	3.312e-05	0.0004	3.939e-05	3.937e-05	1.285e-05	6.712e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0.0002	0	0	0	0	0.0010	0.751	0.09346	T	0.754	0.06812	T	0.293	0.32367	B	0.047	0.29270	B	0.000000	0.84330	D	0.048819	0.999168	0.81001	D	1.315	0.32790	L	-1.16	0.78082	T	-0.51	0.17624	N	0.149	0.19325	-1.0175	0.24528	T	0.099	0.36805	T	10	0.037047923	0.02036	T	0.018489	0.40571	T	0.160	0.41473	0.38	0.39645	0.467161347466	0.46340	0.4383197432043594	0.43748	0.0625190691864	0.06955	0.616632163525	0.55252	T	0.125614	0.45143	T	-0.252584	0.13783	T	-0.270595	0.47760	T	0.066375834273374	0.08132	T	0.835117	0.50455	T	0.0971925	0.22905	0.099113785	0.23652	0.0971925	0.22905	0.099113785	0.23651	-5.269	0.39635	T	.	.	0.101	0.25527	B	.;.;.	.;.;.	2.516915	0.32515	19.07	0.87120555197383764	0.17002	0.88738	0.48810	D	AEFBI	0.516604	0.54307	D	-0.253790643850171	0.30952	1.730829	-0.0437030632934815	0.37763	2.215555	0.290441240389334	0.19081	0.553676	0.25195	0	0.588015	0.36545	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	5.55	5.55	0.83298	1.404000	0.34232	5.012000	0.46677	0.609000	0.47794	0.996000	0.39380	1.000000	0.68203	0.999000	0.91618	0.1207:0.0:0.1988:0.6805	8.009	0.29501	649	0.63102	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	401.33	34	chr1	85045162	.	T	C	401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.682;DP=653;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-0.623;SOR=0.853	GT:AD:DP:GQ:PL	0/1:24,18:42:99:415,0,628	18	0	1	0
chr1	85707951	85707951	C	T	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_017953:exon1:c.G334A:p.A112T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00573583454862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20154	T	0.395	0.15255	T	0.024	0.19075	B	0.002	0.06944	B	0.733295	0.09837	N	0.837603	1	0.08975	N	0.35	0.11930	N	0.92	0.44461	T	-0.42	0.14193	N	0.023	0.00407	-0.9848	0.33879	T	0.014	0.05753	T	10	0.03003785	0.01130	T	0.005736	0.14862	T	0.075	0.21907	0.137	0.04097	0.176091768786	0.17195	0.013701614678578685	0.01328	0.159469905242	0.17994	0.230211660266	0.01984	T	0.012627	0.11064	T	-0.351445	0.04637	T	-0.742603	0.03782	T	0.0883192062500711	0.11016	T	0.594241	0.21993	T	0.030879507	0.02829	0.034323238	0.02478	0.030879507	0.02829	0.034323238	0.02478	-3.928	0.22723	T	.	.	0.068	0.02733	B	.	.	1.512734	0.19433	14.26	0.96451198206309108	0.29865	0.03353	0.08440	N	AEFDGBCI	0.045321	0.07398	N	-1.00024958380464	0.08598	0.4037839	-0.97419444515341	0.10367	0.5216809	0.99998628763225	0.51787	0.733237	0.96898	0	0.600757	0.49542	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	4.08	-0.188	0.12612	0.348000	0.19784	-0.242000	0.10582	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.107000	0.18608	0.2773:0.2667:0.222:0.2339	0.200	0.00134	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	405.83	252	chr1	85707951	.	C	T	405.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.609;DP=2253;ExcessHet=0.119;FS=121.621;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.24;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,26:177:99:0|1:85707951_C_T:349,0,6018:85707951	17	0	2	0
chr1	85707957	85707957	C	T	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_017953:exon1:c.G328A:p.E110K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.0473222998793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.096	0.25489	B	0.021	0.19346	B	0.028595	0.25580	N	0.273382	1	0.81001	D	2.535	0.73915	M	0.11	0.61208	T	-0.83	0.22727	N	0.39	0.43126	-1.0103	0.26823	T	0.065	0.26807	T	10	0.13709101	0.26079	T	0.047322	0.62870	D	0.040	0.10527	0.249	0.18602	0.699699257951	0.69710	0.07503714116849927	0.07439	0.235972541156	0.26139	0.427724897861	0.28898	T	0.046191	0.27349	T	-0.0859447	0.38743	T	-0.36123	0.37910	T	0.966824114322662	0.67708	D	0.714629	0.32694	T	0.11260584	0.26600	0.13793339	0.32956	0.11260584	0.26600	0.13793339	0.32955	-6.336	0.49007	T	.	.	0.072	0.04277	B	.	.	3.658900	0.51965	23.2	0.99865678324144158	0.94366	0.63357	0.32064	D	AEFDGBCI	0.107059	0.21341	N	-0.245718301295972	0.31274	1.752025	-0.127505101155751	0.34286	1.970495	0.999998449053091	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	4.45	3.53	0.39533	3.258000	0.51209	4.594000	0.43970	0.549000	0.26987	0.973000	0.34540	1.000000	0.68203	0.083000	0.17415	0.0:0.7926:0.0:0.2074	6.937	0.23652	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	348.05	36	chr1	85707957	.	C	T	348.05	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.329;DP=3027;ExcessHet=0;FS=222.159;InbreedingCoeff=-0.054;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=1.86;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,26:173:99:0|1:85707951_C_T:361,0,5915:85707951	17	0	1	1
chr1	85707960	85707960	C	T	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_017953:exon1:c.G325A:p.D109N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.0158238405416	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296798266	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	0	1.159e-05	1.316e-05	1.314e-05	1.285e-05	1.347e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	0	0.0005	0.0002	0.004	0.65419	D	0.061	0.45530	T	0.421	0.35387	B	0.056	0.26147	B	0.941725	0.08349	N	0.968057	1	0.81001	D	1.845	0.48678	L	0.87	0.46412	T	-0.56	0.17003	N	0.11	0.09631	-1.0867	0.06102	T	0.035	0.15204	T	10	0.13313776	0.25340	T	0.015824	0.36761	T	0.113	0.31778	0.154	0.05752	0.62384306378	0.62078	0.007471984276343018	0.00713	0.244862958667	0.27001	0.318337738514	0.13169	T	0.022176	0.17144	T	-0.283612	0.10288	T	-0.645166	0.09297	T	0.79849898815155	0.46251	D	0.743426	0.36288	T	0.11163828	0.26380	0.09794794	0.23333	0.11163828	0.26380	0.09794794	0.23332	-4.797	0.34556	T	.	.	0.079	0.07272	B	.	.	3.602490	0.50895	23.0	0.99779722953633698	0.86693	0.63572	0.32131	D	AEFDGBCI	0.121443	0.23611	N	-0.117702964250005	0.36622	2.11932	0.0136035711438946	0.40346	2.406332	0.999999032640875	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.45	3.46	0.38718	2.184000	0.42205	1.224000	0.24997	0.549000	0.26987	1.000000	0.71638	0.424000	0.24822	0.073000	0.16832	0.0:0.8271:0.1729:0.0	12.301	0.54195	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	346.33	36	chr1	85707960	.	C	T	346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.576;DP=1411;ExcessHet=0;FS=123.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.07;ReadPosRankSum=2.21;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,25:167:99:0|1:85707951_C_T:360,0,5697:85707951	18	0	1	0
chr1	85707961	85707961	C	G	exonic	ZNHIT6	.	nonsynonymous SNV	ZNHIT6:NM_017953:exon1:c.G324C:p.K108N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0420223046045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.017	0.60337	D	0.392	0.34646	B	0.065	0.27321	B	0.085514	0.20638	N	0.403834	1	0.81001	D	2.565	0.75005	M	0.12	0.61089	T	-0.73	0.20576	N	0.16	0.16725	-1.0797	0.07407	T	0.052	0.22269	T	10	0.12984544	0.24708	T	0.042022	0.60244	D	0.029	0.06676	0.223	0.14665	0.752368004684	0.75013	0.028324828296545347	0.02782	0.375349522328	0.38988	0.404625177383	0.25712	T	0.050025	0.28477	T	-0.196015	0.21382	T	-0.519338	0.20361	T	0.787380993366241	0.45518	D	0.69993	0.30971	T	0.15530823	0.35107	0.098456666	0.23474	0.15530823	0.35106	0.098456666	0.23473	-7.921	0.60531	D	.	.	0.225	0.45641	B	.	.	2.667120	0.34762	19.72	0.99570277834660381	0.72318	0.67347	0.33400	D	AEFDGBCI	0.118880	0.23227	N	-0.345900836909244	0.27423	1.504439	-0.283810563840102	0.28631	1.59787	0.999986578486917	0.51787	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.45	0.615	0.16784	0.378000	0.20298	0.165000	0.15451	0.549000	0.26987	0.999000	0.42656	0.248000	0.23899	0.069000	0.16583	0.0:0.5216:0.0:0.4784	7.211	0.25111	745	0.52414	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	349.33	36	chr1	85707961	.	C	G	349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.125;DP=1410;ExcessHet=0;FS=123.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.3;SOR=6.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,25:166:99:0|1:85707951_C_T:363,0,5655:85707951	18	0	1	0
chr1	93239851	93239851	T	G	exonic	CCDC18	.	stopgain	CCDC18:NM_001306076:exon21:c.T2933G:p.L978X,CCDC18:NM_001378204:exon21:c.T2936G:p.L979X,CCDC18:NM_206886:exon21:c.T2936G:p.L979X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	.	.	.	8.314e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs764868486	3.423e-06	3.42e-06	5.45e-06	1.376e-06	4.499e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.018426	0.27485	N	0.291167	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468487	0.93276	D	0.435172	0.93191	D	0.994761526584625	0.86260	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.377605	0.97493	37	0.99169982792758415	0.54355	0.86003	0.45206	D	AEFBCI	0.682655	0.64560	D	0.964087512073847	0.94527	12.82842	0.790583216188882	0.89132	9.850697	0.868090131995479	0.25359	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	4.290000	0.58812	.	.	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.019	0.80268	436	0.80373	.;.;.	.	.	.	.	.	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	335.28	35	chr1	93239851	.	T	G	335.28	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.706;DP=810;ExcessHet=0.4139;FS=553.302;InbreedingCoeff=-0.3127;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.642;SOR=8.813	GT:AD:DP:GQ:PL	0/1:53,35:88:99:194,0,750	4	0	3	12
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,31:136:99:0|1:99884396_T_C:466,0,3303:99884396	4	0	15	0
chr1	109094535	109094535	G	C	exonic	TMEM167B	.	nonsynonymous SNV	TMEM167B:NM_001322248:exon3:c.G322C:p.G108R	.	432	1088	0	2	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000399361	0.0007	9.612e-05	0	0	0.0008	0.0011	0	0.0003	0.0006468	100	154602	rs192334124	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0005	0.0006	0.0006	3.005e-05	8.947e-05	0	0	0.0005	0.0004	0.0007	0.0007	0.0007	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0004	0	0	0.0007	0	0.0010	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	537.33	33	chr1	109094535	.	G	C	537.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.325;DP=694;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.68;ReadPosRankSum=0.531;SOR=0.69	GT:AD:DP:GQ:PL	0/1:41,29:70:99:551,0,956	18	0	1	0
chr1	109271269	109271269	G	A	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon26:c.G7649A:p.R2550Q	.	421	1100	1	0	0	1	0.000454339	.	.	.	695965	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.077	0.00413969554644	0.0029	0.00159744	0.0020	0.0007	0.0006	0	0.0015	0.0033	0	0.0002	0.0022703	351	154602	rs628525	0.0032	0.0032	0.0033	0.0031	0.0039	0.0031	0.0031	0.0038	0.0038	0.0004	0.0009	3.826e-05	2.519e-05	0.0013	0.0005	0.0039	0.0026	0.0005	0.0027	0.0027	0.0028	0.0026	0.0048	0.0025	0.0024	0.0043	0.0042	0.0008	0	0.0020	0	0	0.0017	0	0.0048	0.0028	0.0004	0.565	0.06282	T	1.0	0.01155	T	0.016	0.17332	B	0.008	0.13708	B	.	.	.	.	0.702322	0.30091	N	-0.205	0.04094	N	0.9	0.45248	T	0.89	0.01641	N	0.24	0.27077	-0.9793	0.35162	T	0.013	0.04938	T	9	0.0056482255	0.00125	T	0.00414	0.09931	T	0.077	0.22490	.	.	0.378526890672	0.37469	0.22689832539538773	0.22604	0.443152636889	0.44256	0.379314303398	0.22160	T	0.046024	0.27299	T	-0.51609	0.00464	T	-0.502428	0.22096	T	0.00619624598799086	0.00068	T	0.847215	0.52823	T	0.08449194	0.19557	0.07245691	0.15633	0.08449194	0.19557	0.07245691	0.15633	-2.456	0.05487	T	0.12965209965793273	0.13563	0.068	0.02797	B	.	.	3.567167	0.50221	22.9	0.97123592320424901	0.32464	0.77795	0.38293	D	AEFDBI	0.162513	0.28870	N	-0.458891198264499	0.23439	1.258747	-0.197342427575745	0.31633	1.792122	0.996832750918971	0.35047	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.69	4.69	0.58546	2.225000	0.42597	9.938000	0.82634	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1602:0.1609:0.6789:0.0	6.227	0.19925	700	0.57880	GPCR, family 2-like	.	.	.	.	rs628525	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1979.33	35	chr1	109271269	.	G	A	1979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=810;ExcessHet=0;FS=2.168;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.01;SOR=0.505	GT:AD:DP:GQ:PL	0/1:66,77:143:99:1993,0,1490	18	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2941	1618.97	110	chr1	109508616	.	G	C	1618.97	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.579;DP=1667;ExcessHet=6.9875;FS=173.456;InbreedingCoeff=-0.4061;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.36;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,23:98:57:.:.:57,0,1906:.	7	0	10	2
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,22:112:99:.:.:221,0,3265:.	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,22:121:99:.:.:161,0,3459:.	8	0	11	0
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T,SLC16A1:NM_003051:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	2088.26	101	chr1	112913901	.	C	G	2088.26	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.359;DP=1774;ExcessHet=17.0548;FS=69.726;InbreedingCoeff=-0.5826;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=1.26;SOR=10.398	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,13:85:60:0|1:112913900_A_G:60,0,1860:112913900	5	0	14	0
chr1	113971997	113971997	G	A	exonic	HIPK1	.	nonsynonymous SNV	HIPK1:NM_152696:exon15:c.G3187A:p.V1063I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00813108255668	0.0008	0.000998403	0.0009	9.612e-05	0.0003	0	0.0005	0.0011	0	0.0017	0.0009508	147	154602	rs150942801	0.0009	0.0009	0.0009	0.0009	0.0031	0.0009	0.0009	0.0020	0.0017	0.0002	0.0005	7.66e-05	0	0.0002	0.0031	0.0010	0.0012	0.0017	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0006	0.0008	0.0008	0.0004	0	0.0006	0	0	0.0003	0.0068	0.0010	0.0024	0.0008	0.0	0.91255	D	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	0.81	0.48460	T	-0.12	0.08809	N	0.07	0.04307	-1.0201	0.23682	T	0.018	0.07282	T	8	0.009508342	0.00214	T	0.008131	0.21547	T	0.009	0.00846	.	.	0.305252298933	0.30134	.	.	.	.	.	.	.	.	.	.	-0.565513	0.00235	T	-0.598327	0.12952	T	0.0482288225605852	0.05185	T	0.260474	0.04175	T	.	.	.	.	.	.	.	.	-4.513	0.31058	T	.	.	0.130	0.28027	B	.	.	-1.563931	0.00259	0.004	0.71044155581920632	0.09496	0.07002	0.13029	N	AEFBCI	0.043268	0.06818	N	-1.69948261515449	0.00844	0.03649226	-1.80077093740578	0.00756	0.03373533	0.999999721645166	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	5.36	-10.7	0.00191	-2.494000	0.01048	-7.142000	0.01221	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.287000	0.24188	0.1514:0.3935:0.455:0.0	12.031	0.52694	512	0.75040	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.005848	0.000000	0.008621	0.000000	0.003788	0.02632	1818.33	34	chr1	113971997	.	G	A	1818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.471;DP=771;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.198;SOR=0.685	GT:AD:DP:GQ:PL	0/1:55,76:131:99:1832,0,1307	18	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	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:91,57:154:99:521,0,1433	3	0	16	0
chr1	117963818	117963818	C	T	exonic	SPAG17	.	nonsynonymous SNV	SPAG17:NM_206996:exon48:c.G6653A:p.R2218H	.	427	1078	17	0	0	17	0.00782329	.	.	.	3191588	SPAG17-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.012	.	0.0032	0.00359425	0.0043	0.0042	0.0021	0	0.0003	0.0025	0.0067	0.0171	0.0039974	618	154602	rs112012491	0.0033	0.0034	0.0030	0.0037	0.0154	0.0033	0.0032	0.0147	0.0144	0.0034	0.0019	0.0036	0	0.0003	0.0078	0.0027	0.0038	0.0154	0.0030	0.0030	0.0028	0.0031	0.0120	0.0027	0.0026	0.0095	0.0086	0.0036	0	0.0033	0.0023	0.0004	0.0005	0	0.0025	0.0028	0.0120	0.131	0.26629	T	0.109	0.37449	T	0.012	0.16265	B	0.005	0.11217	B	0.639539	0.10612	N	0.815126	0.999999	0.08975	N	0.86	0.21358	L	2.1	0.19990	T	-1.2	0.30555	N	0.096	0.07673	-0.9560	0.39916	T	0.016	0.06521	T	10	0.0034430623	0.00061	T	.	.	.	0.012	0.01476	.	.	0.0482279557977	0.04254	0.3619842413645905	0.36112	0.0577556092581	0.06399	0.191996574402	0.00262	T	0.001675	0.01102	T	-0.672154	0.00053	T	-0.725306	0.04544	T	0.00404187994275917	0.00043	T	0.60064	0.22426	T	0.040545996	0.05807	0.04286035	0.05200	0.03825496	0.05060	0.041897234	0.04867	-3.895	0.22227	T	0.2199208819639975	0.29640	0.097	0.15698	B	.	.	1.755195	0.22329	15.57	0.60974399174801031	0.06594	0.00825	0.03327	N	AEFBI	0.045822	0.07537	N	-0.923212320509405	0.10300	0.4915675	-0.985320819739862	0.10114	0.5073824	1.01423727802349E-4	0.05123	0.554377	0.28877	0	0.601575	0.49859	0	0.514364	0.09456	0	0.567892	0.33627	0	.	.	4.76	-0.819	0.10283	-0.448000	0.06893	-1.398000	0.05533	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.174000	0.21107	0.0:0.4261:0.0:0.5739	7.656	0.27540	650	0.62973	.	.	.	.	.	.	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	0.005550	0.005051	0.005435	0.008772	0.000000	0.000000	0.000000	0.015152	0.05263	1591.83	33	chr1	117963818	.	C	T	1591.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.62;DP=767;ExcessHet=0.119;FS=1.221;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=0.062;SOR=0.837	GT:AD:DP:GQ:PL	0/1:58,41:99:99:987,0,1422	17	0	2	0
chr1	120808561	120808561	G	A	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon3:c.G295A:p.V99I	.	589	931	1	1	0	3	0.00160858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320272877	0.0010	0.0010	0.0010	0.0010	0.0056	0.0010	0.0009	0.0034	0.0027	0.0002	0.0006	0.0079	0	6.134e-05	0.0056	0.0009	0.0015	0.0010	0.0008	0.0008	0.0010	0.0006	0.0010	0.0007	0.0006	0.0006	0.0005	0.0002	0	0.0005	0.0101	0	0	0.0038	0.0008	0.0018	0.0010	.	.	.	0.257	0.31427	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.15469	.	.	.	.	.	.	.	0.014294565	0.00301	T	.	.	.	.	.	.	.	.	.	0.02280819320364746	0.02232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79512	0.43772	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.39898	B	.;.;.;.;.	.;.;.;.;.	0.563386	0.09319	6.101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123000	0.15536	-0.365000	0.09647	0.242000	0.18252	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	.	.	.	964	0.07719	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	634.72	38	chr1	120808561	.	G	A	634.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.496;DP=726;ExcessHet=0;FS=0;InbreedingCoeff=-0.0286;MLEAC=1;MLEAF=0.028;MQ=41.34;MQRankSum=-2.358;QD=15.11;ReadPosRankSum=0.661;SOR=0.616	GT:AD:DP:GQ:PL	0/1:16,26:42:99:648,0,325	17	0	1	1
chr1	145899064	145899064	C	T	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon13:c.G1675A:p.A559T,ITGA10:NM_001303040:exon14:c.G1711A:p.A571T,ITGA10:NM_003637:exon17:c.G2104A:p.A702T	.	423	1070	27	2	0	31	0.0142791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.00317430332807	.	.	.	.	.	.	.	.	.	.	.	.	.	rs35515885	0.0035	0.0035	0.0034	0.0036	0.0243	0.0034	0.0034	0.0210	0.0198	0.0045	0.0060	0.0215	5.038e-05	0.0011	0.0243	0.0031	0.0062	0.0011	0.0046	0.0047	0.0050	0.0042	0.0064	0.0044	0.0042	0.0054	0.0050	0.0044	0	0.0064	0.0242	0.0002	0.0011	0.0272	0.0043	0.0104	0.0006	0.074	0.34621	T	0.138	0.33780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	0.50192	T	-1.48	0.36189	N	0.137	0.14338	.	.	.	.	.	.	.	0.012380809	0.00266	T	.	.	.	.	.	.	.	.	.	0.9765553922096653	0.97645	.	.	.	.	.	0.056132	0.30201	T	.	.	.	.	.	.	.	.	.	0.875312	0.58632	D	.	.	.	.	.	.	.	.	-9.059	0.68121	D	.	.	0.141	0.30920	B	.;.	.;.	3.764463	0.54031	23.4	.	.	.	.	.	.	0.225467	0.34955	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.890000	0.48308	7.593000	0.61311	0.596000	0.33519	0.990000	0.36992	1.000000	0.68203	0.710000	0.34452	.	.	.	934	0.15400	Integrin alpha-2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3982.83	35	chr1	145899064	.	C	T	3982.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.75;DP=1308;ExcessHet=0.119;FS=0.817;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.373;SOR=0.645	GT:AD:DP:GQ:PL	0/1:99,73:172:99:1872,0,2566	17	0	2	0
chr1	150553794	150553794	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.C803T:p.S268F,ADAMTSL4:NM_001288608:exon6:c.C803T:p.S268F,ADAMTSL4:NM_001378596:exon6:c.C803T:p.S268F,ADAMTSL4:NM_019032:exon6:c.C803T:p.S268F,ADAMTSL4:NM_025008:exon6:c.C803T:p.S268F	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	718192	Ectopia_lentis_2,_isolated,_autosomal_recessive|not_provided|Ectopia_lentis_et_pupillae	MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885|MedGen:C3661900|MONDO:MONDO:0009153,MedGen:C1644196,OMIM:225200,Orphanet:1885	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.029	.	0.0089	0.00339457	0.0085	0.0025	0.0046	0	0.0129	0.0119	0.01	0.0039	0.0084152	1301	154602	rs41317517	0.0099	0.0099	0.0101	0.0096	0.0111	0.0097	0.0097	0.0104	0.0103	0.0017	0.0068	0.0257	0	0.0113	0.0111	0.0105	0.0103	0.0044	0.0080	0.0080	0.0083	0.0076	0.0110	0.0076	0.0074	0.0100	0.0097	0.0023	0	0.0110	0.0276	0.0002	0.0082	0.0034	0.0106	0.0118	0.0035	0.082	0.33418	T	0.045	0.49390	D	0.002	0.12996	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-0.08	0.63911	T	-1.29	0.32387	N	0.197	0.21969	-0.9891	0.32828	T	0.064	0.26597	T	9	0.0032356381	0.00055	T	.	.	.	0.029	0.06676	.	.	0.613844073566	0.61072	0.4680251590189548	0.46721	0.133370945786	0.15016	0.353369951248	0.18417	T	0.004774	0.04184	T	-0.534227	0.00363	T	-0.529125	0.19374	T	0.00176258760224284	0.00018	T	0.586841	0.21439	T	0.052740633	0.09880	0.056939285	0.10265	0.049416497	0.08769	0.056939285	0.10264	-5.246	0.39406	T	0.2651501739486481	0.35751	0.080	0.20196	B	.;.;.;.	.;.;.;.	0.611437	0.09797	6.564	0.67427839698071568	0.08351	0.05423	0.11295	N	AEFDGBCI	0.042159	0.06505	N	-0.952574164664582	0.09635	0.4568694	-0.99449241703676	0.09908	0.4957493	0.99999957220898	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.664235	0.64389	0	.	.	4.73	0.378	0.15435	0.247000	0.17953	0.344000	0.17410	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.5416:0.0:0.4584	7.329	0.25745	114	0.95383	.;.;.;.	.	.	.	.	rs41317517	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	0.010574	0.015152	0.013587	0.014620	0.000000	0.000000	0.009146	0.000000	0.05263	3713.83	41	chr1	150553794	.	C	T	3713.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.71;DP=1340;ExcessHet=0.119;FS=3.32;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.7;ReadPosRankSum=0.936;SOR=0.544	GT:AD:DP:GQ:PL	0/1:65,68:133:99:1749,0,1677	17	0	2	0
chr1	152155724	152155724	G	A	exonic	RPTN	.	stopgain	RPTN:NM_001122965:exon3:c.C1375T:p.Q459X	.	454	1060	7	1	0	9	0.00422734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0013	0	0.0003	0	0	0.0003	0	0.0079	0.0010543	163	154602	rs189546119	0.0007	0.0006	0.0004	0.0009	0.0077	0.0006	0.0006	0.0072	0.0070	3.008e-05	0.0003	0	2.544e-05	1.894e-05	0.0028	0.0002	0.0008	0.0077	0.0005	0.0005	0.0004	0.0005	0.0071	0.0004	0.0003	0.0052	0.0046	2.42e-05	0	0.0007	0	0.0002	0	0.0035	0.0003	0.0005	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.056	0.02759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126774	0.32019	T	0.0495461	0.73553	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.168517	0.86628	29.0	0.94868377652946201	0.25687	0.09377	0.15145	N	AEFGBI	0.027413	0.02233	N	-0.226976483924446	0.32031	1.802123	-0.563101106031878	0.20458	1.102326	6.4132569329821E-5	0.04366	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.21	1.05	0.19280	0.242000	0.17862	.	.	0.642000	0.52262	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0769:0.0:0.5104:0.4127	7.665	0.27593	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002640	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	8907.33	37	chr1	152155724	.	G	A	8907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.049;DP=3012;ExcessHet=0;FS=1.1;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.93;MQRankSum=1.03;QD=12.44;ReadPosRankSum=1.25;SOR=0.73	GT:AD:DP:GQ:PL	0/1:354,362:716:99:8921,0,8374	18	0	1	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1290.07	114	chr1	152214827	.	A	*	1290.07	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.362;DP=5607;ExcessHet=13.8672;FS=40.595;InbreedingCoeff=-0.5202;MLEAC=10;MLEAF=0.263;MQ=28.03;MQRankSum=2.54;QD=0.28;ReadPosRankSum=-5.241;SOR=10.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,52:323:99:0|1:152214821_T_A:1249,0,11118:152214821	9	0	10	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	637.96	114	chr1	152214830	.	C	*	637.96	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0;DP=5543;ExcessHet=11.1788;FS=40.595;InbreedingCoeff=-0.4637;MLEAC=10;MLEAF=0.263;MQ=27.92;MQRankSum=1.43;QD=0.15;ReadPosRankSum=-5.927;SOR=10.041	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,52:323:99:0|1:152214821_T_A:1249,0,11118:152214821	9	0	10	0
chr1	152219783	152219783	T	C	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.A1846G:p.T616A	.	420	854	248	0	0	248	0.126789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00149476757281	.	0.000199681	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	7.68e-05	2	26028	rs76694305	6.24e-06	0.0020	6.892e-06	5.579e-06	6.362e-06	2.94e-06	2.13e-06	2.65e-06	1.7e-06	0	0	0	0	0	0	6.362e-06	3.368e-05	0	0.0003	0.0047	0.0003	0.0002	0.0004	0.0002	0.0002	0.0001	0.0001	7.735e-05	0	0.0004	0.0003	0.0002	0.0010	0	0.0002	0.0005	0.0002	0.216	0.19225	T	0.964	0.02522	T	0.16	0.28337	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	3.85	0.03650	T	-0.15	0.09297	N	0.069	0.04188	-0.9114	0.46682	T	0.001	0.00438	T	9	0.026376784	0.00806	T	0.001495	0.02292	T	0.006	0.00375	.	.	0.159798565429	0.15598	0.04495321470064539	0.04439	.	.	0.464960455894	0.33990	T	0.014021	0.12018	T	-0.440938	0.01277	T	-0.871154	0.00731	T	0.00228779240499744	0.00024	T	0.134287	0.01062	T	0.029704548	0.02508	0.040587634	0.04419	0.029704548	0.02508	0.040587634	0.04419	-5.418	0.41092	T	.	.	0.094	0.14385	B	.	.	-0.757427	0.01194	0.058	0.35753390048393252	0.02262	0.00077	0.00530	N	AEFBI	0.019714	0.00710	N	-1.8260051593638	0.00485	0.02085899	-1.92679296248285	0.00433	0.01915755	0.0320252303258179	0.14034	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.75	-7.45	0.01229	-3.458000	0.00516	.	.	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1213:0.532:0.0:0.3467	8.348	0.31445	570	0.70478	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	5052.02	615	chr1	152219783	.	T	C	5052.02	.	AC=7;AF=0.194;AN=36;BaseQRankSum=7.93;DP=8689;ExcessHet=2.9153;FS=29.204;InbreedingCoeff=-0.2459;MLEAC=7;MLEAF=0.194;MQ=51.63;MQRankSum=-10.48;QD=1.56;ReadPosRankSum=-7.619;SOR=3.236	GT:AD:DP:GQ:PL	0/1:393,57:450:99:576,0,11120	11	0	7	1
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	4491.75	16	chr1	152910506	.	C	*	4491.75	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.102;DP=774;ExcessHet=1.0583;FS=1.511;InbreedingCoeff=-0.0149;MLEAC=2;MLEAF=0.056;MQ=56.04;MQRankSum=0;QD=17.08;ReadPosRankSum=-0.832;SOR=0.594	GT:AD:DP:GQ:PL	0/1:15,19:34:99:484,0,397	16	0	2	1
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2195.52	180	chr1	153760378	.	C	G	2195.52	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.183;DP=2532;ExcessHet=6.9875;FS=288.096;InbreedingCoeff=-0.4251;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=0.865;SOR=12.942	GT:AD:DP:GQ:PL	0/1:76,40:116:99:200,0,875	7	0	10	2
chr1	153973997	153973997	G	A	exonic	CREB3L4	.	nonsynonymous SNV	CREB3L4:NM_001255978:exon10:c.G1120A:p.E374K,CREB3L4:NM_001255979:exon10:c.G1120A:p.E374K,CREB3L4:NM_001255980:exon10:c.G1060A:p.E354K,CREB3L4:NM_001255981:exon10:c.G1060A:p.E354K,CREB3L4:NM_130898:exon10:c.G1120A:p.E374K	.	431	1088	3	0	0	3	0.00137678	.	.	.	2337619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.055	0.0116194470486	0.0002	0.000399361	0.0002	9.682e-05	0.0002	0	0	0.0004	0	0	0.0002135	33	154602	rs146920889	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	0.0003	0	0	3.744e-05	0.0019	0.0002	0.0002	2.319e-05	0.0002	0.0002	0.0003	0.0002	0.0012	0.0002	0.0002	0.0008	0.0006	4.81e-05	0	0.0012	0	0	0	0	0.0002	0.0005	0	0.012	0.54683	D	0.11	0.37310	T	0.608	0.39540	P	0.24	0.38599	B	0.955125	0.08261	N	0.980252	0.999995	0.08975	N	1.995	0.54099	M	-0.23	0.66652	T	-0.68	0.19509	N	0.069	0.08227	-1.0016	0.29459	T	0.138	0.45545	T	10	0.028452069	0.00977	T	0.011619	0.29427	T	0.055	0.15663	.	.	0.733982189669	0.73161	0.3313243689223777	0.33045	0.0381371829516	0.04051	0.39432734251	0.24278	T	0.041843	0.25991	T	-0.351524	0.04632	T	-0.422706	0.30766	T	0.0357662457972668	0.02939	T	0.771423	0.40183	T	0.09862871	0.23266	0.07946556	0.17893	0.09862871	0.23266	0.07946556	0.17892	-3.878	0.23218	T	.	.	0.085	0.10159	B	.;.;.;.	.;.;.;.	1.298079	0.16994	12.89	0.99409295683175092	0.63216	0.60805	0.31301	D	AEFDBHCI	0.101949	0.20463	N	-0.671736097230687	0.16830	0.8609127	-0.705906430590681	0.16813	0.8912162	0.999957624001654	0.48110	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.28	1.17	0.19998	0.295000	0.18821	0.770000	0.21388	0.676000	0.76740	0.270000	0.25046	0.351000	0.24472	0.059000	0.15899	0.2666:0.1588:0.5746:0.0	4.747	0.12416	75	0.96833	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.006098	0.000000	0.02632	1723.33	33	chr1	153973997	.	G	A	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.255;DP=801;ExcessHet=0;FS=4.132;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=1.6;SOR=1.074	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1737,0,1695	18	0	1	0
chr1	154429403	154429403	G	A	exonic	IL6R	.	nonsynonymous SNV	IL6R:NM_000565:exon2:c.G293A:p.R98Q,IL6R:NM_001206866:exon2:c.G293A:p.R98Q,IL6R:NM_001382769:exon2:c.G293A:p.R98Q,IL6R:NM_001382770:exon2:c.G293A:p.R98Q,IL6R:NM_001382771:exon2:c.G293A:p.R98Q,IL6R:NM_001382772:exon2:c.G293A:p.R98Q,IL6R:NM_001382773:exon2:c.G293A:p.R98Q,IL6R:NM_181359:exon2:c.G293A:p.R98Q	.	.	.	.	.	.	.	.	.	.	.	986913	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.00379774189263	.	.	7.456e-05	0	0	0	0	0.0001	0	6.101e-05	5.82e-05	9	154602	rs749494588	3.832e-05	3.831e-05	3.54e-05	4.127e-05	4.472e-05	3.026e-05	2.72e-05	2.914e-05	2.589e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	3.868e-05	0.0001	1.16e-05	3.287e-05	3.284e-05	3.855e-05	2.692e-05	4.411e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0010	0	0.572	0.19639	T	0.396	0.16473	T	0.003	0.17332	B	0.0	0.01387	B	0.025425	0.01630	N	2.081920	1	0.08975	N	-0.83	0.01527	N	2.5	0.17113	T	0.66	0.02721	N	0.067	0.09207	-1.0113	0.26510	T	0.003	0.01092	T	10	0.02681753	0.00840	T	0.003798	0.08868	T	0.070	0.20419	0.531	0.63855	0.213573922156	0.20996	0.5620348333910018	0.56130	0.286730773741	0.31065	0.229831933975	0.01956	T	0.061533	0.31678	T	-0.386634	0.02827	T	-0.607246	0.12209	T	0.0156626775697976	0.00360	T	0.549145	0.18957	T	0.040259983	0.05713	0.032992814	0.02123	0.040259983	0.05712	0.032992814	0.02122	-4.333	0.34380	T	.	.	0.071	0.04002	B	.;.;.;.	.;.;.;.	-0.397236	0.02224	0.224	0.66929688642376417	0.08203	0.00769	0.03173	N	AEFDBI	0.036655	0.04919	N	-2.19794420422255	0.00078	0.003322106	-2.22740322021938	0.00097	0.004263312	0.999999999926525	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.05	-10.1	0.00330	-1.107000	0.03427	-1.482000	0.05340	-2.648000	0.00223	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2752:0.0:0.4766:0.2481	7.772	0.28180	513	0.74941	Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1097.33	34	chr1	154429403	.	G	A	1097.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.997;DP=722;ExcessHet=0;FS=4.266;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=0.185;SOR=0.374	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1111,0,936	18	0	1	0
chr1	155752120	155752120	C	T	exonic	GON4L	.	nonsynonymous SNV	GON4L:NM_001282856:exon30:c.G6313A:p.E2105K,GON4L:NM_001282858:exon30:c.G6310A:p.E2104K,GON4L:NM_001282860:exon30:c.G6313A:p.E2105K	.	0	1450	67	5	0	77	0.025865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	0.0025	0.00579073	0.0062	0.0004	0.0026	0.0002	0.0003	0.0042	0.0089	0.0253	0.0052328	809	154602	rs201235180	0.0040	0.0040	0.0033	0.0048	0.0233	0.0040	0.0039	0.0224	0.0221	0.0006	0.0023	0.0126	7.557e-05	0.0004	0.0163	0.0027	0.0050	0.0233	0.0035	0.0035	0.0033	0.0038	0.0214	0.0033	0.0032	0.0180	0.0168	0.0008	0.0033	0.0060	0.0153	0	9.42e-05	0.0034	0.0036	0.0033	0.0214	0.059	0.37750	T	0.472	0.12176	T	0.501	0.40281	P	0.118	0.38393	B	0.069109	0.21627	N	0.393081	0.688873	0.33306	D	1.5	0.37844	L	2.74	0.11730	T	-0.91	0.24460	N	0.2	0.22098	-1.0192	0.23975	T	0.014	0.05705	T	10	0.0030045211	0.00049	T	.	.	.	0.066	0.19193	.	.	0.225033846419	0.22103	0.22807142473717912	0.22722	2.18874785332	0.95615	0.369694828987	0.20788	T	0.084368	0.37264	T	-0.494657	0.00613	T	-0.465063	0.26050	T	0.0188610296394352	0.00597	T	0.762524	0.38803	T	0.10332762	0.24422	0.089615405	0.20966	0.10332762	0.24422	0.089615405	0.20966	-2.751	0.07742	T	.	.	0.089	0.12228	B	.;.;.;.	.;.;.;.	2.628840	0.34181	19.55	0.9976408111968329	0.85335	0.93716	0.58987	D	AEFGBI	0.207875	0.33400	N	-0.089953946318772	0.37831	2.206798	-0.0311092840130838	0.38317	2.255807	0.826733732227707	0.24620	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	3.138000	0.50265	1.270000	0.25285	0.591000	0.32079	0.676000	0.28402	0.705000	0.26257	0.539000	0.29915	0.0:1.0:0.0:0.0	15.177	0.72599	68	0.97118	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.012500	0.000000	0.009563	0.000000	0.000000	0.008772	0.015267	0.037815	0.05263	3437.83	40	chr1	155752120	.	C	T	3437.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.04;DP=910;ExcessHet=0.119;FS=4.738;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.97;MQRankSum=0.517;QD=15.35;ReadPosRankSum=2.24;SOR=1.027	GT:AD:DP:GQ:PL	0/1:51,63:114:99:1803,0,1464	17	0	2	0
chr1	156011827	156011827	G	A	exonic	SSR2	.	stopgain	SSR2:NM_003145:exon5:c.C424T:p.R142X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.942	0.94904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.574913	0.96804	D	0.588046	0.96750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;.	High;High;.	9.926211	0.99439	44	0.99213921751579504	0.55685	0.88238	0.48077	D	AEFGBI	0.118731	0.23204	N	0.572417952431753	0.71458	5.653797	0.410843908091509	0.62240	4.436054	0.999968225531357	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	3.24	0.36257	1.712000	0.37560	0.938000	0.22831	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.982000	0.59238	0.0:0.0:0.6097:0.3903	12.276	0.54054	196	0.92420	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	568.58	42	chr1	156011827	.	G	A	568.58	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-4.242;DP=1001;ExcessHet=0.119;FS=149.47;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=3.18;ReadPosRankSum=0.387;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,23:93:99:0|1:156011822_G_A:411,0,2471:156011822	16	0	2	1
chr1	156652718	156652718	G	T	exonic	BCAN	.	nonsynonymous SNV	BCAN:NM_021948:exon8:c.G1768T:p.G590C,BCAN:NM_198427:exon8:c.G1768T:p.G590C	.	8	1498	15	1	0	17	0.00564222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.0121925681322	7.7e-05	0.000199681	0.0002	0	8.667e-05	0	0	0.0001	0.0011	0.0009	0.0001617	25	154602	rs369853236	0.0001	0.0001	7.932e-05	0.0001	0.0010	0.0001	9.409e-05	0.0008	0.0008	3.012e-05	2.264e-05	0.0007	0	0	0.0007	3.707e-05	0.0003	0.0010	6.566e-05	6.562e-05	6.425e-05	6.714e-05	0.0004	3.514e-05	2.614e-05	7.29e-05	3.029e-05	0	0	6.534e-05	0.0003	0	0	0	7.351e-05	0.0005	0.0004	0.015	0.72154	D	0.074	0.47581	T	0.369	0.57599	B	0.022	0.51870	B	0.336996	0.14023	N	0.590261	0.715889	0.30020	N	0	0.06538	N	2.44	0.15145	T	2.08	0.00371	N	0.201	0.22228	-1.0508	0.14175	T	0.018	0.07659	T	10	0.019789904	0.00447	T	0.012193	0.30540	T	0.107	0.30369	.	.	0.467416895013	0.46368	0.3839416462880603	0.38309	0.27292665473	0.29804	0.428180038929	0.28960	T	0.090346	0.38566	T	-0.492161	0.00632	T	-0.54033	0.18263	T	0.116904978384697	0.14123	T	0.671933	0.28057	T	0.144664	0.33196	0.11347958	0.27388	0.144664	0.33196	0.11347958	0.27388	-10.323	0.75823	D	.	.	0.171	0.38605	B	.;.	.;.	4.610645	0.73108	25.9	0.99563982787463123	0.71953	0.10136	0.15725	N	AEFBCI	0.477879	0.52068	N	-0.0411888931683961	0.39997	2.367872	0.0425575121128312	0.41713	2.510708	0.999999991662722	0.74766	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.29	4.29	0.50359	5.845000	0.69157	6.457000	0.55686	0.676000	0.76740	0.745000	0.29079	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	13.583	0.61378	735	0.53711	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2849.83	34	chr1	156652718	.	G	T	2849.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=914;ExcessHet=0.119;FS=3.694;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.896;SOR=0.947	GT:AD:DP:GQ:PL	0/1:59,62:121:99:1529,0,1662	17	0	2	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	340.42	119	chr1	156815839	.	G	C	340.42	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-3.812;DP=2091;ExcessHet=0.119;FS=190.118;InbreedingCoeff=-0.0872;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.2;ReadPosRankSum=1.51;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:98,39:137:99:.:.:218,0,2174:.	15	0	2	2
chr1	159928983	159928983	G	A	exonic	IGSF9	.	nonsynonymous SNV	IGSF9:NM_001135050:exon19:c.C2405T:p.A802V,IGSF9:NM_020789:exon19:c.C2357T:p.A786V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0153512286331	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs757839323	2.196e-06	4.788e-06	0	4.481e-06	7.797e-05	5.9e-07	1.6e-07	2.067e-05	1.073e-05	0	0	0	7.797e-05	0	0	0	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0	1.0	0.01954	T	0.344	0.17804	T	0.001	0.07471	B	0.001	0.04355	B	0.722749	0.09921	N	0.820858	0.999324	0.21358	N	0.975	0.24501	L	-0.03	0.63077	T	0.19	0.04947	N	0.034	0.00942	-0.9826	0.34398	T	0.028	0.11795	T	9	0.024261355	0.00661	T	0.015351	0.36031	T	0.022	0.04323	0.166	0.07071	0.179529687257	0.17594	0.24269001128756612	0.24183	0.249200713937	0.27491	0.459253311157	0.33207	T	0.022293	0.17210	T	-0.295751	0.09066	T	-0.662602	0.08092	T	0.0561301745474339	0.06546	T	0.69773	0.32735	T	0.031275	0.02939	0.043288086	0.05352	0.031275	0.02939	0.043288086	0.05352	-4.338	0.31356	T	.	.	0.135	0.29394	B	.;.	.;.	1.006884	0.13856	10.41	0.74749627592371604	0.10813	0.06602	0.12617	N	AEFDBCI	0.066476	0.13019	N	-0.96381084319417	0.09385	0.44395	-0.817443594508986	0.14073	0.7334436	0.999958314652282	0.48110	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.15	0.568	0.16518	0.214000	0.17331	1.271000	0.25291	-0.122000	0.13826	0.000000	0.06391	0.999000	0.35428	0.989000	0.64315	0.5657:0.0:0.4343:0.0	6.703	0.22425	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	.	.	.	.	.	.	.	.	0.02632	1536.33	37	chr1	159928983	.	G	A	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.057;DP=813;ExcessHet=0;FS=2.6;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.49;ReadPosRankSum=-2.601;SOR=1.008	GT:AD:DP:GQ:PL	0/1:42,64:106:99:1550,0,1008	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:114,55:176:99:588,0,2393	7	0	12	0
chr1	162776155	162776155	A	G	exonic	DDR2	.	nonsynonymous SNV	DDR2:NM_001354982:exon16:c.A2068G:p.M690V,DDR2:NM_001354983:exon16:c.A2068G:p.M690V,DDR2:NM_006182:exon16:c.A2068G:p.M690V,DDR2:NM_001014796:exon17:c.A2068G:p.M690V	Spondylometaepiphyseal dysplasia, short limb-hand type, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	277308	Spondyloepimetaphyseal_dysplasia-short_limb-abnormal_calcification_syndrome|not_provided|Connective_tissue_disorder	MONDO:MONDO:0010077,MedGen:C1849011,OMIM:271665,Orphanet:93358|MedGen:C3661900|MONDO:MONDO:0003900,MedGen:C0009782	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.655	0.0345289167767	7.7e-05	0.00139776	0.0006	0	0	0	0	5.998e-05	0.0011	0.0043	0.0005563	86	154602	rs377626332	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0043	0	2.236e-05	0	0	0	0.0010	4.497e-05	0.0002	0.0048	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	0	0	0.0001	0	0.0002	0	0	0.0001	0	0.0050	0.419	0.09866	T	0.129	0.34837	T	0.053	0.22573	B	0.148	0.34065	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.21	0.30464	L	-2.38	0.88298	D	-2.05	0.47008	N	0.662	0.67304	-0.4461	0.70529	T	0.395	0.74800	T	9	0.013472348	0.00286	T	0.034529	0.55736	D	0.655	0.87035	.	.	0.973642156486	0.97336	0.7524774297565009	0.75194	0.854938578419	0.68716	0.658908605576	0.61252	T	0.616772	0.87931	D	0.0437368	0.57532	T	0.290315	0.87694	D	0.0632377320065735	0.07669	T	0.856014	0.54441	D	0.45695558	0.64482	0.27215394	0.53123	0.5102004	0.67692	0.27629995	0.53572	-7.178	0.55323	T	.	.	0.185	0.40048	B	.;.;.	.;.;.	4.153329	0.62320	24.4	0.97710615766073083	0.35495	0.99821	0.99681	D	AEFBI	0.893500	0.83152	D	0.0608806485536174	0.44645	2.734733	0.252524769552834	0.52791	3.451764	0.999999909562718	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	7.381000	0.78992	9.368000	0.80425	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.178	0.65095	829	0.39537	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1698.33	36	chr1	162776155	.	A	G	1698.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=785;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=0.841;SOR=0.64	GT:AD:DP:GQ:PL	0/1:84,67:151:99:1712,0,2127	18	0	1	0
chr1	173946813	173946813	C	T	exonic	RC3H1	.	nonsynonymous SNV	RC3H1:NM_001300850:exon15:c.G2761A:p.G921S,RC3H1:NM_001300851:exon15:c.G2761A:p.G921S,RC3H1:NM_001300852:exon15:c.G2761A:p.G921S,RC3H1:NM_172071:exon16:c.G2761A:p.G921S	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00573794266206	0.0038	0.00139776	0.0021	0.0010	0.0010	0	0.0002	0.0035	0	0.0004	0.0024838	384	154602	rs139674996	0.0044	0.0045	0.0045	0.0044	0.0055	0.0044	0.0043	0.0054	0.0053	0.0007	0.0011	3.829e-05	0	0.0002	0.0005	0.0055	0.0045	0.0004	0.0028	0.0028	0.0033	0.0024	0.0050	0.0026	0.0025	0.0046	0.0044	0.0011	0	0.0018	0	0	0.0003	0	0.0050	0.0033	0.0002	0.844	0.02782	T	0.916	0.03134	T	0.083	0.27304	B	0.004	0.14941	B	0.000592	0.43095	N	0.265527	0.996137	0.23105	N	1.06	0.26948	L	0.99	0.41750	T	-0.42	0.14588	N	0.259	0.29313	-0.9421	0.42282	T	0.018	0.07565	T	10	0.0057835877	0.00129	T	0.005738	0.14892	T	0.032	0.07718	.	.	0.339940258815	0.33601	0.47994538022142885	0.47914	0.297192746947	0.32101	0.300637483597	0.10496	T	0.047599	0.27770	T	-0.612945	0.00121	T	-0.649923	0.08960	T	0.000777497996572196	0.00007	T	0.739426	0.35812	T	0.032611288	0.03319	0.04641827	0.06466	0.032611288	0.03319	0.04641827	0.06466	-3.137	0.11726	T	.	.	0.065	0.01884	B	.;.;.	.;.;.	0.247145	0.06266	2.723	0.5447230968798501	0.05145	0.25637	0.22758	N	AEFDBHCIJ	0.080734	0.16328	N	-1.33552692947092	0.03277	0.1461236	-1.30486084098787	0.04367	0.2058252	0.999930759274321	0.46732	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.45	-0.765	0.10468	-0.131000	0.10461	-0.721000	0.07705	-1.671000	0.00800	0.000000	0.06391	0.000000	0.08366	0.747000	0.35681	0.0:0.5892:0.0:0.4108	11.300	0.48536	168	0.93464	.;.;.	.	.	.	.	.	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	947.33	36	chr1	173946813	.	C	T	947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=0.638;SOR=0.755	GT:AD:DP:GQ:PL	0/1:38,34:72:99:961,0,895	18	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18693.2	75	chr1	175160810	.	C	*	18693.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.04;DP=1448;ExcessHet=1.8686;FS=0.62;InbreedingCoeff=-0.0857;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.21;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,37:65:99:1|0:175160809_TC_T:2520,1036,1064:175160809	9	2	8	0
chr1	180945344	180945344	A	G	exonic	KIAA1614	.	nonsynonymous SNV	KIAA1614:NM_020950:exon9:c.A3329G:p.D1110G	.	12	1499	11	0	0	11	0.0036557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.418	.	0.0017	0.00219649	0.0037	0.0003	0.0021	0	0.0223	0.0036	0.0057	0.0013	0.0032535	503	154602	rs140904251	0.0031	0.0031	0.0030	0.0032	0.0027	0.0030	0.0030	0.0027	0.0026	0.0005	0.0020	3.948e-05	0	0.0207	0.0023	0.0027	0.0028	0.0012	0.0035	0.0035	0.0027	0.0043	0.0035	0.0033	0.0032	0.0031	0.0030	0.0004	0	0.0012	0	0	0.0235	0.0034	0.0035	0.0028	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000025	0.55875	D	0.114482	0.999972	0.53665	D	2.57	0.75187	M	1.32	0.49642	T	-5.75	0.89648	D	0.768	0.76573	-0.4578	0.70141	T	0.202	0.55836	T	9	0.008362293	0.00190	T	.	.	.	0.418	0.72780	.	.	0.492064528124	0.48842	0.6928797665027464	0.69227	0.928294480531	0.71718	0.759231686592	0.75815	T	0.22301	0.58703	T	-0.0813272	0.39498	T	0.108297	0.77459	D	0.0462155362936917	0.04822	T	0.842416	0.58386	T	0.8799948	0.89666	0.8390531	0.90775	0.8799948	0.89667	0.8390531	0.90776	-11.446	0.82048	D	.	.	0.863	0.82227	P	.;.;.	.;.;.	4.747063	0.76619	26.5	0.99838733092690002	0.91972	0.96984	0.72022	D	AEFDBCI	0.836107	0.75391	D	0.652883381564968	0.76557	6.508252	0.607806582318638	0.75506	6.322543	0.999999999987964	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.505578	0.09266	0	0.567892	0.33627	0	.	.	4.91	4.91	0.63897	7.529000	0.80843	11.090000	0.85912	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	1.0:0.0:0.0:0.0	14.220	0.65364	784	0.47045	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.008621	0.006098	0.000000	0.02632	427.33	33	chr1	180945344	.	A	G	427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.09;DP=657;ExcessHet=0;FS=1.652;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-0.242;SOR=1.267	GT:AD:DP:GQ:PL	0/1:24,14:38:99:441,0,640	18	0	1	0
chr1	197061877	197061877	A	T	exonic	F13B	.	nonsynonymous SNV	F13B:NM_001994:exon3:c.T358A:p.S120T	Factor XIIIB deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0627093392034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	.	0	0	.	.	0	0	0	0	1.873e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.26740	T	0.06	0.45744	T	0.65	0.40644	P	0.505	0.47795	P	0.225357	0.16042	N	0.357114	0.999996	0.08975	N	2.36	0.67893	M	-0.11	0.64445	T	-1.02	0.26843	N	0.27	0.30574	-0.8417	0.52533	T	0.236	0.60282	T	10	0.44615257	0.58409	T	0.062709	0.68739	D	0.074	0.21613	0.384	0.40298	0.753458437225	0.75122	0.5012898226299024	0.50050	0.447856127742	0.44639	0.400100380182	0.25083	T	0.190183	0.54464	T	-0.114043	0.34102	T	-0.401591	0.33198	T	0.392917960882187	0.28675	T	0.613539	0.23382	T	0.15413383	0.34902	0.21995671	0.46753	0.15413383	0.34902	0.21995671	0.46752	-3.871	0.21869	T	0.4597932038298085	0.54217	0.079	0.07318	B	.	.	2.238418	0.28578	17.84	0.97661795318863698	0.35201	0.18078	0.20110	N	AEFGI	0.163014	0.28925	N	-0.238405916857489	0.31569	1.771463	-0.323175113659531	0.27351	1.517117	2.1094791715823E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.85	3.51	0.39297	1.507000	0.35365	1.159000	0.24539	0.756000	0.94297	0.352000	0.25776	0.043000	0.21642	0.253000	0.23340	0.572:0.277:0.1511:0.0	5.463	0.15921	198	0.92335	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP 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	.	.	.	.	.	.	.	.	0.02632	921.33	34	chr1	197061877	.	A	T	921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.222;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-1.145;SOR=0.751	GT:AD:DP:GQ:PL	0/1:50,43:93:99:935,0,1109	18	0	1	0
chr1	201386508	201386508	T	C	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.A853G:p.T285A	.	416	1091	15	0	0	15	0.00682749	.	.	.	4020796	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00215725915153	.	0.000998403	0.0034	0.0003	0.0019	0	0.0002	0.0055	0.0050	0.0004	0.0030595	473	154602	rs199579589	0.0031	0.0031	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0005	0.0029	0.0018	2.529e-05	0.0002	0.0068	0.0036	0.0029	0.0007	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0041	0.0040	0.0005	0	0.0041	0.0017	0	0.0003	0.0068	0.0046	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	0.023539	0.01594	N	2.147060	1	0.08975	N	-0.49	0.02651	N	2.87	0.10386	T	0.31	0.04022	N	0.047	0.01911	-0.9386	0.42837	T	0.007	0.02558	T	10	0.0033936203	0.00059	T	0.002157	0.04043	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06471795420376389	0.06410	0.101017976049	0.11413	0.271386504173	0.06323	T	0.030787	0.21738	T	-0.766274	0.00014	T	-0.872109	0.00723	T	0.000960221312585339	0.00009	T	0.336666	0.07200	T	0.014417047	0.00092	0.017198384	0.00027	0.014417047	0.00092	0.017198384	0.00027	-2.898	0.09123	T	.	.	0.059	0.00754	B	.;.	.;.	-0.565584	0.01668	0.119	0.17251376477950772	0.00495	0.00580	0.02616	N	AEFBCI	0.030474	0.03075	N	-1.58242822399693	0.01355	0.05902909	-1.49155796214791	0.02413	0.1109366	0.999631973349128	0.41205	0.732398	0.92422	0	0.626922	0.53725	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.47	-1.09	0.09397	-0.913000	0.04150	-1.896000	0.04535	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2428:0.3668:0.0:0.3904	3.288	0.06532	934	0.15400	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.010101	0.006793	0.020468	0.000000	0.000000	0.018293	0.000000	0.07895	4085.77	60	chr1	201386508	.	T	C	4085.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.941;DP=1048;ExcessHet=0;FS=3.089;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=1.37;SOR=0.449	GT:AD:DP:GQ:PL	1/1:0,110:110:99:3349,330,0	17	1	1	0
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	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:97,48:145:99:.:.:595,0,1897:.	4	0	15	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	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,32:144:66:.:.:66,0,3322:.	9	0	10	0
chr1	206867420	206867420	A	G	exonic	IL20	.	nonsynonymous SNV	IL20:NM_018724:exon5:c.A415G:p.M139V,IL20:NM_001385166:exon6:c.A415G:p.M139V,IL20:NM_001385167:exon7:c.A415G:p.M139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.00833581845204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.09	0.40267	T	0.0	0.02946	B	0.0	0.01387	B	0.794758	0.06732	N	1.087340	1	0.08975	N	2.2	0.62015	M	0.04	0.62051	T	-1.19	0.30346	N	0.148	0.15046	-0.9141	0.46338	T	0.198	0.55258	T	10	0.08889833	0.15351	T	0.008336	0.22080	T	0.108	0.30607	0.521	0.62368	0.299770980665	0.29595	0.15339439611989536	0.15261	0.0974248291006	0.11002	0.250110983849	0.03779	T	0.115239	0.43367	T	-0.238448	0.15547	T	-0.58029	0.14518	T	0.062326437699726	0.07530	T	0.483852	0.14720	T	0.12982735	0.30312	0.14174643	0.33745	0.12982735	0.30312	0.14174643	0.33744	-2.983	0.09999	T	.	.	0.069	0.03372	B	.;.	.;.	0.825457	0.11966	8.527	0.79498210721287221	0.12769	0.19710	0.20766	N	AEFDBHCIJ	0.049580	0.08580	N	-0.671739191783161	0.16830	0.8609072	-0.675357865800989	0.17578	0.9352786	0.999999999991508	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.62	0.79	0.17756	0.926000	0.28405	0.159000	0.15383	0.756000	0.94297	0.189000	0.24175	0.000000	0.08366	0.970000	0.54328	0.6594:0.0:0.3406:0.0	7.697	0.27764	683	0.59664	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1144.33	36	chr1	206867420	.	A	G	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.922;DP=760;ExcessHet=0;FS=0.719;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.778;SOR=0.597	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1158,0,1494	18	0	1	0
chr1	206937104	206937104	C	T	exonic	PIGR	.	nonsynonymous SNV	PIGR:NM_002644:exon4:c.G1036A:p.V346I	.	417	1073	30	2	0	34	0.0155963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00933196404289	0.0043	0.00279553	0.0052	0.0016	0.0029	0.0002	0.0005	0.0074	0.0038	0.0045	0.0048318	747	154602	rs12748810	0.0052	0.0052	0.0051	0.0052	0.0107	0.0051	0.0050	0.0086	0.0078	0.0009	0.0038	0.0133	0.0001	0.0009	0.0107	0.0057	0.0052	0.0025	0.0040	0.0040	0.0041	0.0038	0.0059	0.0037	0.0036	0.0054	0.0052	0.0013	0.0319	0.0029	0.0118	0.0002	0.0005	0.0204	0.0059	0.0062	0.0021	0.172	0.22660	T	0.092	0.39954	T	0.959	0.55135	D	0.344	0.42549	B	0.000454	0.44317	N	0.098719	0.646236	0.32921	D	1.545	0.39105	L	2.3	0.16953	T	-0.58	0.17417	N	0.099	0.08088	-0.9996	0.30030	T	0.029	0.12409	T	10	0.005029261	0.00108	T	0.009332	0.24483	T	0.072	0.21020	.	.	0.189391138174	0.18552	0.4810212973730127	0.48022	0.426954359613	0.43058	0.376184433699	0.21714	T	0.174517	0.52377	T	-0.666129	0.00058	T	-0.724497	0.04581	T	0.0185711887291415	0.00572	T	0.661834	0.27067	T	0.091067985	0.21330	0.051946834	0.08461	0.091067985	0.21329	0.051946834	0.08461	-5.41	0.41016	T	.	.	0.082	0.08899	B	.	.	2.155181	0.27454	17.47	0.99591695879643904	0.73631	0.29423	0.23817	N	AEFBI	0.158394	0.28405	N	0.005644445633114	0.42111	2.531223	-0.0272485895640157	0.38489	2.268321	0.93774651646716	0.27311	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.52	4.61	0.56724	0.074000	0.14525	-0.668000	0.07948	0.599000	0.40250	0.028000	0.20300	0.000000	0.08366	0.750000	0.35786	0.0:0.8245:0.0:0.1755	8.417	0.31840	798	0.45050	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	0.012588	0.010101	0.006793	0.005848	0.000000	0.008621	0.027439	0.018939	0.05263	2038.83	45	chr1	206937104	.	C	T	2038.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.583;DP=886;ExcessHet=0.119;FS=4.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=2.17;SOR=0.41	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1140,0,1404	17	0	2	0
chr1	224967518	224967518	G	C	exonic	DNAH14	.	nonsynonymous SNV	DNAH14:NM_001349912:exon5:c.G436C:p.V146L,DNAH14:NM_001145154:exon6:c.G586C:p.V196L,DNAH14:NM_001367479:exon6:c.G586C:p.V196L,DNAH14:NM_001367481:exon6:c.G586C:p.V196L,DNAH14:NM_144989:exon6:c.G586C:p.V196L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.0867457713979	.	0.00179712	0.0010	0	0	0	0	0	0.0044	0.0068	0.0008473	131	154602	rs559085893	0.0004	0.0004	0.0002	0.0006	0.0068	0.0004	0.0004	0.0063	0.0061	3.039e-05	0	0	0	0	0.0003	9.024e-07	0.0004	0.0068	0.0003	0.0003	7.723e-05	0.0004	0.0079	0.0002	0.0002	0.0059	0.0052	0	0	0	0	0	0	0.0034	0	0	0.0079	0.016	0.91255	D	0.013	0.67890	D	0.999	0.77913	D	0.994	0.88582	D	.	.	.	.	1	0.81001	D	.	.	.	1.66	0.56281	T	-1.44	0.58085	N	0.32	0.75650	-0.9067	0.47250	T	0.178	0.52381	T	8	0.009006321	0.00204	T	0.086746	0.74799	D	0.173	0.43840	0.398	0.42590	0.438913950225	0.43509	0.11657871979120468	0.11585	0.262451403936	0.28804	0.489182949066	0.37325	T	0.010266	0.09286	T	-0.293883	0.09249	T	-0.192307	0.55373	T	0.0765666865606547	0.09542	T	0.683432	0.31518	T	0.19736116	0.41598	0.21815078	0.46507	0.19736116	0.41598	0.21815078	0.46506	-2.716	0.10106	T	.	.	0.730	0.85879	P	.;.;.;.;.;.	.;.;.;.;.;.	3.594155	0.50731	23.0	0.99753883018443712	0.84460	0.92512	0.55885	D	AEFBI	0.656751	0.62863	D	0.301519464002825	0.56226	3.787043	0.368354554999313	0.59622	4.141503	0.77729315605846	0.23774	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.63	5.63	0.86108	4.447000	0.59762	9.278000	0.79691	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.655000	0.32830	0.0:0.0:1.0:0.0	16.579	0.84561	753	0.51500	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.007576	0.02632	1523.33	33	chr1	224967518	.	G	C	1523.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-0.271;SOR=0.645	GT:AD:DP:GQ:PL	0/1:53,59:112:99:1537,0,1311	18	0	1	0
chr1	226965060	226965060	C	T	exonic	COQ8A	.	nonsynonymous SNV	COQ8A:NM_020247:exon3:c.C238T:p.H80Y	Coenzyme Q10 deficiency, primary, 4, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	.	210625	not_specified|Autosomal_recessive_cerebellar_ataxia|Autosomal_recessive_ataxia_due_to_ubiquinone_deficiency|not_provided	MedGen:CN169374|MONDO:MONDO:0015244,MedGen:C5575375,OMIM:PS213200,Orphanet:1172|MONDO:MONDO:0012784,MedGen:C2677589,OMIM:612016,Orphanet:139485|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0003	0.0155751	0.0064	0.0002	0.0003	0.0500	0.0002	0.0001	0.0044	0.0199	0.0059184	915	154602	rs76249490	0.0023	0.0023	0.0019	0.0028	0.0360	0.0023	0.0022	0.0344	0.0338	5.974e-05	0.0002	0.0009	0.0360	7.52e-05	0.0017	5.755e-05	0.0040	0.0189	0.0025	0.0025	0.0020	0.0030	0.0465	0.0023	0.0022	0.0417	0.0398	0.0002	0	0.0003	0.0003	0.0465	0.0002	0	0.0003	0.0005	0.0207	0.035	0.43708	D	0.037	0.51737	D	0.229	0.30546	B	0.04	0.23831	B	0.941923	0.07600	N	1.024330	1	0.81001	D	.	.	.	-0.63	0.72125	T	-0.79	0.21860	N	0.096	0.13769	-1.0365	0.18388	T	0.054	0.22921	T	10	0.0029934943	0.00049	T	.	.	.	0.085	0.24743	.	.	0.571278246138	0.56794	0.19955899363814011	0.19872	0.0486578419569	0.05315	0.415837943554	0.27263	T	0.096121	0.39761	T	-0.413404	0.01887	T	-0.323346	0.42207	T	0.0150100122014209	0.00323	T	0.454055	0.12934	T	0.03752782	0.04827	0.0489188	0.07368	0.038811993	0.05240	0.04521349	0.06035	-4.384	0.29339	T	.	.	0.083	0.10111	B	.;.;.	.;.;.	1.469835	0.18935	14.00	0.98305064410384635	0.40087	0.87445	0.46987	D	AEFDBI	0.201247	0.32792	N	-0.569213541793746	0.19885	1.044209	-0.497482184069485	0.22223	1.206009	0.996259553940641	0.34624	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.44	4.52	0.54797	1.753000	0.37987	1.394000	0.26140	0.596000	0.33519	1.000000	0.71638	0.744000	0.26502	0.304000	0.24594	0.263:0.6552:0.0:0.0817	7.233	0.25230	767	0.49651	UbiB domain, ADCK3-like;.;UbiB domain, ADCK3-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	0.002014	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1487.33	35	chr1	226965060	.	C	T	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.097;DP=740;ExcessHet=0;FS=1.497;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-2.32;SOR=0.917	GT:AD:DP:GQ:PL	0/1:58,58:116:99:1501,0,1517	18	0	1	0
chr1	227031375	227031375	C	T	exonic	CDC42BPA	.	nonsynonymous SNV	CDC42BPA:NM_001366010:exon26:c.G3509A:p.R1170H,CDC42BPA:NM_014826:exon26:c.G3350A:p.R1117H,CDC42BPA:NM_001366011:exon27:c.G3533A:p.R1178H,CDC42BPA:NM_003607:exon27:c.G3593A:p.R1198H,CDC42BPA:NM_001366019:exon28:c.G3632A:p.R1211H	.	438	1078	6	0	0	6	0.00277521	.	.	.	707145	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.252	.	0.0003	0.0155751	0.0066	0.0003	0.0003	0.0498	0.0002	0.0001	0.0044	0.0216	0.006106	944	154602	rs961490	0.0025	0.0025	0.0020	0.0029	0.0364	0.0024	0.0024	0.0349	0.0342	0.0002	0.0002	0.0009	0.0364	7.488e-05	0.0021	7.734e-05	0.0039	0.0205	0.0025	0.0026	0.0020	0.0031	0.0465	0.0023	0.0023	0.0417	0.0399	0.0002	0	0.0003	0.0003	0.0465	0.0002	0	0.0003	0.0005	0.0221	0.016	0.51853	D	0.079	0.43344	T	1.0	0.90584	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-0.28	0.67874	T	-2.8	0.59226	D	0.643	0.68950	-0.3876	0.72417	T	0.201	0.55780	T	10	0.0048368573	0.00103	T	.	.	.	0.252	0.56159	.	.	0.546180371755	0.54274	0.5350717538373607	0.53432	0.42903078364	0.43204	0.626663446426	0.56672	T	0.353539	0.72081	T	-0.23267	0.16296	T	-0.0652552	0.65962	T	0.0349644746636233	0.02802	T	0.873013	0.58433	D	0.17271042	0.37977	0.15154359	0.35692	0.17271042	0.37977	0.15154359	0.35691	-4.499	0.30876	T	.	.	0.114	0.39134	B	.;.;.;.;.	.;.;.;.;.	4.576209	0.72255	25.8	0.99862649177561869	0.94093	0.96908	0.71597	D	AEFGBI	0.762139	0.69964	D	0.56326960155134	0.70895	5.569006	0.626536758454704	0.76872	6.572001	0.999997919891082	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.71	5.71	0.89031	6.161000	0.71682	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.858	0.96769	720	0.55521	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1107.33	37	chr1	227031375	.	C	T	1107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.861;DP=720;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=-0.058;SOR=0.504	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1121,0,1037	18	0	1	0
chr1	227735494	227735494	C	T	exonic	SNAP47	.	nonsynonymous SNV	SNAP47:NM_001323935:exon1:c.C85T:p.P29S,SNAP47:NM_053052:exon1:c.C85T:p.P29S	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0024	0.0227636	0.0240	0.0243	0.0029	0.0491	0.0721	0.0024	0.0490	0.1283	0.0064941	1004	154602	rs114487068	0.0040	0.0042	0.0031	0.0050	0.0495	0.0039	0.0039	0.0480	0.0474	0.0143	0.0019	0.0012	0.0204	0.0184	0.0042	0.0002	0.0072	0.0495	0.0086	0.0086	0.0071	0.0102	0.0557	0.0082	0.0081	0.0502	0.0481	0.0147	0	0.0016	0.0032	0.0237	0.0186	0	0.0009	0.0066	0.0557	1.0	0.05167	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.068338	0.02221	U	3.117940	1	0.08975	N	0	0.06538	N	2.09	0.20122	T	0.42	0.03352	N	0.068	0.04072	-1.0362	0.18481	T	0.013	0.05129	T	10	0.0022320151	0.00032	T	.	.	.	0.020	0.03691	.	.	.	.	0.1853827327147146	0.18456	0.0487339974867	0.05321	0.364365309477	0.20020	T	0.002024	0.01432	T	-0.645648	0.00077	T	-0.649947	0.08957	T	0.000555854429736628	0.00005	T	0.367463	0.08589	T	0.019588195	0.00493	0.043252382	0.05338	0.019588195	0.00492	0.043252382	0.05338	-3.109	0.11399	T	.	.	0.079	0.07507	B	.;.	.;.	0.409586	0.07807	4.496	0.90792188084513104	0.20041	0.02341	0.06690	N	ALL	0.017928	0.00505	N	-1.56898261464751	0.01427	0.06222301	-1.61461708748756	0.01569	0.07112816	0.999999999999896	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.49	-0.938	0.09882	-1.244000	0.03013	.	.	-0.179000	0.10443	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1707:0.5185:0.1817:0.1291	2.620	0.04616	716	0.55970	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004154	0.000000	0.002747	0.003145	0.000000	0.000000	0.000000	0.026923	0.02632	912.33	36	chr1	227735494	.	C	T	912.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.217;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.96;ReadPosRankSum=0.212;SOR=0.85	GT:AD:DP:GQ:PL	0/1:26,35:61:99:926,0,691	18	0	1	0
chr1	228148724	228148724	G	C	exonic	GUK1	.	nonsynonymous SNV	GUK1:NM_001242840:exon7:c.G598C:p.G200R	.	.	.	.	.	.	.	.	.	.	.	2373331	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00162073516703	0.0009	.	0.0008	0.0001	0.0004	0	0	0.0013	0	0.0002	0.0008021	124	154602	rs72756242	0.0011	0.0011	0.0011	0.0010	0.0016	0.0010	0.0010	0.0012	0.0012	2.988e-05	0.0002	0	0	0.0005	0.0016	0.0013	0.0007	0.0003	0.0008	0.0008	0.0010	0.0006	0.0017	0.0007	0.0007	0.0014	0.0013	9.62e-05	0	0.0001	0	0	0.0004	0	0.0017	0.0005	0	0.008	0.58626	D	0.288	0.92824	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	0.76	0.02007	N	0.114	0.10198	-0.9993	0.30115	T	0.048	0.20355	T	6	0.013327748	0.00283	T	0.001621	0.02625	T	0.040	0.10527	0.246	0.18139	0.159798565429	0.15598	0.6236756499439395	0.62300	0.351213491318	0.36967	0.215331941843	0.01058	T	0.00624	0.05676	T	-0.472426	0.00821	T	-0.458647	0.26747	T	0.0258339078450845	0.01383	T	0.450755	0.12737	T	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.113	0.22135	B	.;.	.;.	0.165107	0.05550	2.009	0.42470869061348931	0.03133	0.19493	0.20682	N	AEFDGBCI	0.649591	0.62400	D	-1.30896307039602	0.03572	0.1597915	-1.45459660276873	0.02729	0.1260354	0.999993240608195	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	2.99	-2.32	0.06360	0.268000	0.18336	-0.302000	0.10107	-0.106000	0.15538	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.5977:0.0:0.4023:0.0	8.373	0.31591	551	0.72115	.;Guanylate kinase-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	1	0	.	.	.	.	.	.	.	.	0.02632	3902.85	42	chr1	228148724	.	G	C	3902.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=878;ExcessHet=0.119;FS=2.119;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=0.812;SOR=0.563	GT:AD:DP:GQ:PL	0/1:69,77:146:99:1960,0,1678	18	0	1	0
chr1	228158125	228158125	G	T	exonic	GJC2	.	nonsynonymous SNV	GJC2:NM_020435:exon2:c.G367T:p.A123S	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	3849460	Spastic_paraplegia	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.197	0.842886326246	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414596108	2.945e-05	3.01e-05	1.762e-05	4.239e-05	0.0025	2.131e-05	1.824e-05	0.0012	0.0008	0	0	0	0	0	0.0025	1.196e-05	7.098e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.05601	T	0.799	0.04079	T	0.01	0.15535	B	0.005	0.11217	B	0.757872	0.09647	N	0.842297	1	0.08975	N	0	0.06538	N	-4.64	0.97920	D	-0.04	0.07590	N	0.103	0.08646	0.011	0.82486	D	0.712	0.90119	D	10	0.17816135	0.32887	T	0.842886	0.98786	D	0.197	0.47942	0.362	0.36711	0.906959738677	0.90602	0.3926578986123011	0.39180	.	.	0.77312040329	0.77891	T	0.397882	0.75613	T	0.0026026	0.52012	T	-0.234038	0.51379	T	0.0366884614773712	0.03102	T	0.286971	0.05151	T	0.048177578	0.08357	0.05157042	0.08325	0.048177578	0.08356	0.05157042	0.08325	-5.063	0.37516	T	.	.	0.083	0.09433	B	.	.	0.293243	0.06695	3.199	0.40949341153456537	0.02923	0.06368	0.12369	N	AEFDBI	0.057579	0.10738	N	-1.43042045579695	0.02375	0.104809	-1.5111989112184	0.02258	0.1035533	0.996081988238559	0.34514	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.36	-5.29	0.02535	-0.025000	0.12361	-0.010000	0.13073	0.500000	0.22704	0.001000	0.13787	0.000000	0.08366	0.051000	0.15275	0.1412:0.3226:0.2165:0.3197	1.969	0.03194	548	0.72362	Connexin, 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	0.002193	0.000000	0.002304	0.000000	0.000000	0.013158	0.004386	0.000000	0.02632	830.69	32	chr1	228158125	.	G	T	830.69	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.27;DP=436;ExcessHet=0;FS=1.862;InbreedingCoeff=-0.0486;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.26;ReadPosRankSum=-0.101;SOR=0.394	GT:AD:DP:GQ:PL	0/1:12,29:41:99:844,0,348	18	0	1	0
chr1	228279901	228279901	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon28:c.C7477T:p.R2493W,OBSCN:NM_052843:exon28:c.C7477T:p.R2493W,OBSCN:NM_001271223:exon33:c.C8764T:p.R2922W	.	1	1520	1	0	0	1	0.000328839	.	.	.	4038924	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.428	0.297980680765	7.9e-05	.	0.0001	0	0	0	0	4.425e-05	0	0.0005	4.53e-05	7	154602	rs375061154	3.921e-05	4.104e-05	2.636e-05	5.229e-05	0.0005	3.096e-05	2.783e-05	0.0003	0.0003	0	7.608e-05	0	0	0	0	1.095e-05	6.755e-05	0.0005	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.014	0.54683	D	0.002	0.83351	D	1.0	0.90584	D	0.981	0.75168	D	0.051936	0.22938	N	0.443096	0.999995	0.58761	D	1.67	0.42885	L	-0.3	0.67874	T	-4.11	0.76015	D	0.326	0.38643	-0.2163	0.77250	T	0.410	0.75894	T	10	0.32395923	0.49726	T	0.297981	0.90786	D	0.428	0.73517	.	.	0.817874784151	0.81616	0.1680083831447716	0.16720	0.487261875694	0.47556	0.430869817734	0.29328	T	0.22407	0.58839	T	-0.227022	0.17045	T	-0.25336	0.49485	T	0.740348219871521	0.42756	D	0.920008	0.83775	D	0.16350535	0.36497	0.13986078	0.33357	0.16350535	0.36496	0.13986078	0.33356	-10.7	0.77987	D	.	.	0.119	0.24498	B	.;.;.;.;.;.	.;.;.;.;.;.	3.815021	0.55051	23.6	0.99665186774425618	0.78202	0.47852	0.28075	N	AEFDBI	0.381253	0.46359	N	0.219903309033441	0.52165	3.392401	0.106034371132955	0.44856	2.759393	0.436345664025824	0.20415	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.01	-0.552	0.11227	0.937000	0.28549	5.316000	0.48277	0.594000	0.32500	0.984000	0.35821	1.000000	0.68203	0.930000	0.46718	0.4323:0.5677:0.0:0.0	14.179	0.65100	433	0.80627	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1611.33	37	chr1	228279901	.	C	T	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=826;ExcessHet=0;FS=8.322;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.389;SOR=0.864	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1625,0,1451	18	0	1	0
chr1	228299971	228299971	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001271223:exon51:c.G13564A:p.A4522T	.	.	.	.	.	.	.	.	.	.	.	2816156	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.0421264305338	0.0012	0.000199681	0.0008	0.0001	0.0004	0	0	0.0013	0	0.0002	0.0007438	115	154602	rs55939441	0.0011	0.0011	0.0011	0.0011	0.0016	0.0011	0.0010	0.0013	0.0013	5.974e-05	0.0002	0	0	0.0005	0.0016	0.0013	0.0007	0.0003	0.0008	0.0008	0.0011	0.0006	0.0017	0.0007	0.0007	0.0015	0.0014	7.217e-05	0	0.0001	0	0	0.0004	0	0.0017	0.0005	0	0.52	0.07259	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-0.24	0.66834	T	-0.64	0.18670	N	0.257	0.29081	-0.3704	0.72949	T	0.365	0.72568	T	6	0.033243775	0.01496	T	0.042126	0.60298	D	0.089	0.25827	.	.	0.598497351524	0.59529	0.18321398758122603	0.18240	0.483530979331	0.47301	0.282843083143	0.07892	T	.	.	.	-0.39848	0.02369	T	-0.351332	0.39052	T	0.0362840761133369	0.03030	T	0.732227	0.34774	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	1.459245	0.18817	13.94	0.99551598161275712	0.71148	0.94440	0.61173	D	AEFBI	0.424467	0.48963	N	0.0798137855620924	0.45521	2.807307	0.0703549821887502	0.43066	2.616137	0.548566511211465	0.21314	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.613276	0.41899	0	.	.	4.37	3.43	0.38372	2.065000	0.41068	4.251000	0.42758	0.676000	0.76740	0.871000	0.30813	0.961000	0.29326	0.257000	0.23443	0.0:0.0:0.8419:0.1581	13.452	0.60630	443	0.79878	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	2918.33	42	chr1	228299971	.	G	A	2918.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.491;DP=879;ExcessHet=0;FS=1.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=-0.75;SOR=0.616	GT:AD:DP:GQ:PL	0/1:93,111:204:99:2932,0,2425	18	0	1	0
chr1	228335230	228335230	C	T	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon62:c.C16337T:p.T5446I,OBSCN:NM_052843:exon62:c.C16337T:p.T5446I,OBSCN:NM_001271223:exon73:c.C19208T:p.T6403I	.	.	.	.	.	.	.	.	.	.	.	2816166	not_provided|OBSCN-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.143	0.0178101566131	.	0.000199681	0.0010	0.0010	0	0	0	0.0020	0	0.0004	0.0002652	41	154602	rs113760892	0.0011	0.0011	0.0011	0.0011	0.0016	0.0011	0.0011	0.0013	0.0013	6.332e-05	0.0002	0	2.799e-05	0.0005	0.0016	0.0014	0.0007	0.0003	0.0009	0.0009	0.0011	0.0006	0.0018	0.0007	0.0007	0.0015	0.0014	7.27e-05	0	0.0001	0	0	0.0004	0	0.0018	0.0005	0	0.015	0.57480	D	0.01	0.74150	D	0.225	0.31683	B	0.032	0.25828	B	0.037500	0.24396	N	0.414273	0.957539	0.30832	N	0.97	0.24054	L	-0.24	0.66834	T	-2.56	0.60507	D	0.259	0.29313	-0.8784	0.49888	T	0.186	0.53571	T	10	0.061312377	0.07668	T	0.01781	0.39652	T	0.143	0.38195	.	.	0.730405627939	0.72801	0.20404569306352718	0.20321	0.153784230414	0.17355	0.371907830238	0.21105	T	0.228529	0.59410	T	-0.353293	0.04524	T	-0.286424	0.46143	T	0.0433756548700178	0.04306	T	0.743826	0.36463	T	0.11374133	0.26860	0.14271301	0.33943	0.11374133	0.26859	0.14271301	0.33942	-4.931	0.36082	T	.	.	0.133	0.28636	B	.;.;.;.;.	.;.;.;.;.	2.460153	0.31693	18.82	0.99239626658140723	0.56501	0.92317	0.55433	D	AEFDBI	0.237174	0.35950	N	-0.0460309099151475	0.39778	2.351452	0.121643818147495	0.45659	2.825088	0.0358156354968328	0.14217	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.564101	0.26826	0	.	.	5.79	5.79	0.91751	2.221000	0.42559	2.119000	0.30708	-0.231000	0.07715	0.985000	0.35982	0.986000	0.30841	0.106000	0.18562	0.138:0.862:0.0:0.0	15.620	0.76545	436	0.80373	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.002741	0.000000	0.006061	0.000000	0.000000	0.000000	0.000000	0.008264	0.02632	1032.33	38	chr1	228335230	.	C	T	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.522;DP=750;ExcessHet=0;FS=0.88;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12;ReadPosRankSum=0.212;SOR=0.846	GT:AD:DP:GQ:PL	0/1:44,42:86:99:1046,0,1079	18	0	1	0
chr1	229659277	229659277	G	A	exonic	URB2	.	nonsynonymous SNV	URB2:NM_001314021:exon10:c.G4555A:p.E1519K,URB2:NM_014777:exon10:c.G4555A:p.E1519K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.022527275655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.018	0.59732	D	0.999	0.77913	D	0.941	0.67658	D	0.000000	0.84330	D	0.046950	1	0.81001	D	2.515	0.73286	M	0.82	0.48142	T	-1.39	0.34397	N	0.705	0.70878	-0.6557	0.62465	T	0.275	0.64629	T	9	0.79105794	0.78664	D	0.022527	0.45427	T	0.180	0.45073	0.49	0.57573	0.689874887879	0.68721	0.6846074097033958	0.68399	0.48230503497	0.47191	0.541827440262	0.44704	T	0.183971	0.53648	T	0.0705571	0.60917	D	-0.136426	0.60426	T	0.959611833095551	0.65581	D	0.880112	0.59716	D	0.37535313	0.58978	0.29575565	0.55608	0.37535313	0.58978	0.29575565	0.55607	-2.602	0.06519	T	.	.	0.226	0.45738	B	.	.	4.907384	0.80710	27.4	0.99937201472321724	0.99661	0.99036	0.90290	D	AEFBI	0.846801	0.76367	D	0.737485343192617	0.82090	7.676984	0.72995708383648	0.84651	8.352356	0.999999824107318	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.5	5.5	0.81386	8.703000	0.91063	11.315000	0.92518	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:1.0:0.0	19.015	0.92868	508	0.75398	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	190.94	118	chr1	229659277	.	G	A	190.94	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.706;DP=1880;ExcessHet=0;FS=232.548;InbreedingCoeff=-0.2207;MLEAC=2;MLEAF=0.111;MQ=59.99;MQRankSum=0;QD=1.58;ReadPosRankSum=0.61;SOR=10.188	GT:AD:DP:GQ:PL	0/1:94,27:139:99:198,0,1794	8	0	1	10
chr1	234446970	234446970	T	A	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon12:c.A1967T:p.K656M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0218534908313	.	.	1.649e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs749702222	8.217e-06	8.209e-06	8.176e-06	8.259e-06	0.0001	4.38e-06	3.46e-06	8.018e-05	6.252e-05	0	0	0	0	0	0	0	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.014	0.62352	D	0.981	0.59675	D	0.747	0.55931	P	0.161925	0.17636	N	0.625755	0.536433	0.32018	D	2.33	0.66821	M	1.05	0.39990	T	-1.86	0.43524	N	0.455	0.49237	-0.7214	0.59394	T	0.145	0.46914	T	10	0.28472185	0.46054	T	0.021853	0.44673	T	0.112	0.31546	0.287	0.24601	0.224531998449	0.22054	0.33445424963519843	0.33358	0.269621044273	0.29486	0.343456417322	0.16954	T	0.013684	0.11790	T	-0.246302	0.14557	T	-0.354903	0.38643	T	0.690131008625031	0.40254	D	0.723028	0.33655	T	0.119412884	0.28118	0.07776376	0.17352	0.119412884	0.28117	0.07776376	0.17352	-4.894	0.35667	T	.	.	0.179	0.39012	B	.	.	3.820472	0.55160	23.6	0.99377652398402416	0.61715	0.88287	0.48147	D	AEFGBI	0.090702	0.18377	N	0.197886657781594	0.51097	3.293767	0.135279186258034	0.46365	2.883821	9.24030424470333E-4	0.08013	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.733575	0.97253	0	.	.	5.44	3.1	0.34780	0.539000	0.22885	1.793000	0.28816	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.786000	0.37147	0.0:0.1886:0.0:0.8114	7.616	0.27323	921	0.19240	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1130.33	43	chr1	234446970	.	T	A	1130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.934;DP=766;ExcessHet=0;FS=2.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=1.36;SOR=0.412	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1144,0,1164	18	0	1	0
chr1	245688135	245688135	C	T	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C5152T:p.P1718S	.	.	.	.	.	.	.	.	.	.	.	4159227	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.274	0.126286864865	9.4e-05	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs373108388	5.573e-06	8.209e-06	6.921e-06	4.208e-06	6.034e-05	2.4e-06	1.73e-06	9.99e-06	3.74e-06	6.034e-05	2.331e-05	0	0	0	0	4.524e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.346e-05	4.824e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.824e-05	0	0	0	0	0	0	0	0	0	0.382	0.11120	T	0.459	0.12632	T	0.067	0.28155	B	0.03	0.25828	B	.	.	.	.	0.992164	0.44438	D	1.545	0.39105	L	-1.1	0.77336	T	0.59	0.02558	N	0.274	0.33578	-0.4868	0.69122	T	0.382	0.73855	T	9	0.11279258	0.21168	T	0.126287	0.80792	D	0.274	0.59007	.	.	0.043077524339	0.03247	0.3370475144480874	0.33617	0.305377239782	0.32842	0.524411678314	0.42248	T	0.042537	0.26213	T	-0.181565	0.23503	T	-0.29891	0.44839	T	0.0685628955940695	0.08448	T	0.530047	0.17709	T	0.064681105	0.13746	0.08496894	0.19586	0.064681105	0.13746	0.08496894	0.19586	-2.351	0.04841	T	.	.	0.070	0.04806	B	.;.	.;.	1.439022	0.18583	13.82	0.93446512532025927	0.23227	0.75721	0.37089	D	AEFDBCI	0.433658	0.49503	N	-0.177523553845282	0.34073	1.940414	-0.106925079938154	0.35109	2.02742	0.999999998619194	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	5.0	5.0	0.66209	2.341000	0.43640	0.793000	0.21586	0.524000	0.24156	0.832000	0.30162	0.126000	0.22952	0.006000	0.07323	0.0:0.9187:0.0:0.0813	11.758	0.51157	967	0.07127	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2731.33	39	chr1	245688135	.	C	T	2731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.822;DP=984;ExcessHet=0;FS=12.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.69;ReadPosRankSum=0.233;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,70:132:99:0|1:245688134_G_A:2745,0,2391:245688134	18	0	1	0
chr1	245688136	245688136	C	T	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C5153T:p.P1718L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.386	0.397691179719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.70582	D	0.891	0.54400	P	0.541	0.48869	P	.	.	.	.	0.999987	0.58761	D	2.825	0.82220	M	-1.34	0.79944	T	-2.68	0.57275	D	0.475	0.51048	0.144	0.84951	D	0.529	0.82496	D	9	0.39930016	0.55453	T	0.397691	0.93329	D	0.386	0.70276	0.172	0.07774	0.143184338766	0.13958	0.3671386844800689	0.36627	0.308200376121	0.33126	0.573729276657	0.49204	T	0.482683	0.81072	T	0.0325191	0.56059	T	-0.191065	0.55491	T	0.890052616596222	0.54083	D	0.646635	0.25918	T	0.1260895	0.29542	0.20142727	0.44123	0.1260895	0.29541	0.20142727	0.44122	-3.965	0.23278	T	.	.	0.093	0.16451	B	.;.	.;.	2.258804	0.28859	17.94	0.99331404674736479	0.59777	0.93131	0.57407	D	AEFDBCI	0.447807	0.50330	N	0.184633247410698	0.50461	3.23591	0.106735579936627	0.44892	2.76227	0.99999999688207	0.74766	0.656854	0.48797	0	0.69481	0.67340	0	0.606814	0.37721	0	0.562822	0.20929	0	.	.	5.0	4.08	0.46880	2.542000	0.45403	4.656000	0.44217	0.524000	0.24156	0.819000	0.29975	0.222000	0.23721	0.004000	0.06068	0.1464:0.8536:0.0:0.0	14.709	0.68830	967	0.07127	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2731.33	39	chr1	245688136	.	C	T	2731.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.621;DP=981;ExcessHet=0;FS=12.666;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.69;ReadPosRankSum=0.277;SOR=1.243	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,70:132:99:0|1:245688134_G_A:2745,0,2391:245688134	18	0	1	0
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	.	.	.	.	.	.	.	.	0.05263	672.83	301	chr1	247949492	.	G	C	672.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.47;DP=4311;ExcessHet=0.119;FS=27.988;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=51.69;MQRankSum=-0.117;QD=1.38;ReadPosRankSum=-6.163;SOR=3.321	GT:AD:DP:GQ:PL	0/1:213,36:249:99:549,0,6412	17	0	2	0
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	4591.79	177	chr1	248441544	.	G	A	4591.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.76;DP=2380;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=46.1;MQRankSum=7.76;QD=11.37;ReadPosRankSum=2.85;SOR=0.699	GT:AD:DP:GQ:PL	0/1:106,67:173:99:1645,0,2655	16	0	3	0
chr2	1643470	1643470	C	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon19:c.G3850T:p.V1284L	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	429	980	106	7	0	120	0.0576923	.	.	.	250315	not_specified|Anterior_segment_dysgenesis_7|not_provided	MedGen:CN169374|MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.258	.	0.0049	0.013778	0.0118	0.0015	0.0083	0	0.0003	0.0082	0.0211	0.0453	0.0107631	1664	154602	rs147066927	0.0079	0.0079	0.0067	0.0092	0.0569	0.0078	0.0078	0.0518	0.0498	0.0022	0.0078	0.0245	2.519e-05	0.0005	0.0569	0.0051	0.0113	0.0442	0.0061	0.0061	0.0053	0.0069	0.0452	0.0057	0.0056	0.0403	0.0384	0.0011	0	0.0116	0.0199	0	0.0002	0.0408	0.0054	0.0137	0.0452	0.055	0.38407	T	0.078	0.42261	T	0.245	0.31074	B	0.162	0.34839	B	0.235775	0.15821	N	0.585291	0.999947	0.51968	D	1.68	0.43186	L	-0.29	0.67712	T	-2.41	0.52938	N	0.105	0.08925	-0.6554	0.62478	T	0.220	0.58292	T	10	0.009080559	0.00205	T	.	.	.	0.258	0.56959	0.504	0.59770	.	.	0.718440100943886	0.71787	0.559209178422	0.52472	0.590268671513	0.51531	T	0.257772	0.62885	T	-0.215215	0.18652	T	-0.0483367	0.67135	D	0.0161957909221841	0.00394	T	0.833117	0.50161	T	0.2221549	0.44809	0.1884566	0.42137	0.2221549	0.44809	0.1884566	0.42137	-7.21	0.55553	T	0.1606143896662149	0.19607	0.482	0.63745	A	.	.	3.033307	0.40636	21.2	0.99071842500591201	0.51739	0.96374	0.68826	D	AEFDBCI	0.703649	0.65962	D	0.0678464935631092	0.44968	2.76128	0.176129248850277	0.48542	3.068776	0.999999999974522	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.733000	0.61730	7.418000	0.58694	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:1.0:0.0:0.0	18.907	0.92439	824	0.40336	Peroxidasin, peroxidase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.055388	0.030303	0.054348	0.093567	0.000000	0.094828	0.057927	0.030303	0.1053	6848.43	177	chr2	1643470	.	C	A	6848.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.192;DP=1214;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=0.474;SOR=0.73	GT:AD:DP:GQ:PL	0/1:66,76:142:99:1996,0,1687	15	0	4	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,21:54:99:.:.:158,0,296:.	2	0	17	0
chr2	31138082	31138082	C	G	exonic	GALNT14	.	nonsynonymous SNV	GALNT14:NM_001253826:exon1:c.G5C:p.R2P,GALNT14:NM_001329097:exon1:c.G5C:p.R2P,GALNT14:NM_024572:exon1:c.G5C:p.R2P	.	428	1092	2	0	0	2	0.000914913	.	.	.	2254164	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.17770898193	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1002582670	6.158e-06	6.156e-06	4.085e-06	8.253e-06	8.115e-05	2.9e-06	2.1e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	1.799e-06	0	8.115e-05	6.572e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.002	0.72154	D	0.006	0.76473	D	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	0.725479	0.29881	N	1.965	0.53209	M	0.03	0.65563	T	-2.29	0.54702	N	0.463	0.49965	-0.8339	0.53048	T	0.198	0.55343	T	9	0.4358866	0.57790	T	0.177709	0.85307	D	0.172	0.43662	0.518	0.61915	0.705181888856	0.70261	0.8615041280190617	0.86114	0.36822472908	0.38380	0.838212132454	0.87822	D	0.133026	0.46346	T	-0.0661582	0.41939	T	-0.235954	0.51194	T	0.629537609411124	0.37599	D	0.743726	0.36333	T	0.46254689	0.64829	0.5799954	0.75656	0.46254689	0.64830	0.5799954	0.75657	-5.022	0.43845	T	.	.	0.249	0.50545	B	.;.;.	.;.;.	4.789858	0.77721	26.8	0.99435921199707711	0.64522	0.87210	0.46681	D	ALL	0.609737	0.59883	D	-0.248201030775962	0.31175	1.745468	-0.166101635995093	0.32793	1.869225	0.999999999999894	0.74766	0.685219	0.55550	0	0.552344	0.17405	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.29	2.45	0.28953	2.514000	0.45164	5.756000	0.49655	0.469000	0.21855	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.7286:0.1741:0.0973	7.030	0.24139	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	.	.	.	.	.	.	.	.	0.02632	2224.33	34	chr2	31138082	.	C	G	2224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.955;DP=827;ExcessHet=0;FS=0.556;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.89;SOR=0.619	GT:AD:DP:GQ:PL	0/1:90,96:186:99:2238,0,1917	18	0	1	0
chr2	36578854	36578854	G	C	exonic	FEZ2	.	nonsynonymous SNV	FEZ2:NM_001042548:exon5:c.C646G:p.L216V,FEZ2:NM_005102:exon5:c.C646G:p.L216V	.	434	1084	4	0	0	4	0.00184162	.	.	.	3253433	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.282	0.0258520234451	.	.	4.983e-05	0	0	0	0	6.01e-05	0	0.0001	3.88e-05	6	154602	rs769440031	5.284e-05	5.267e-05	4.094e-05	6.488e-05	0.0002	4.291e-05	3.965e-05	9.941e-05	7.955e-05	0	0	0	0	0	0.0002	4.954e-05	0.0001	0.0002	3.287e-05	3.941e-05	3.855e-05	2.692e-05	0.0004	1.261e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.003	0.68238	D	0.006	0.70582	D	0.979	0.59044	D	0.654	0.55195	P	0.000028	0.55875	D	0.121545	0.999947	0.54805	D	2.98	0.85499	M	0.89	0.45636	T	-2.26	0.50502	N	0.624	0.63883	-0.7896	0.55753	T	0.172	0.51452	T	9	0.30508757	0.48028	T	0.025852	0.48797	D	0.282	0.59981	.	.	0.480724696071	0.47704	0.12406965301096921	0.12332	0.0491442954324	0.05378	0.538773953915	0.44272	T	0.189232	0.60261	T	-0.197578	0.21155	T	-0.316077	0.43002	T	0.605312645435333	0.36612	D	0.942106	0.78488	D	0.261946	0.49254	0.20248227	0.44278	0.261946	0.49254	0.20248227	0.44277	-8.219	0.63048	D	.	.	0.297	0.52744	B	.;.;.;.	.;.;.;.	3.776362	0.54268	23.5	0.99619493435241069	0.75353	0.96502	0.69459	D	AEFDGBHI	0.438293	0.49774	N	0.244560647277839	0.53369	3.506197	0.197315045537455	0.49700	3.170073	0.999999937067183	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.17	5.3	0.74745	1.463000	0.34887	8.640000	0.77890	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.025000	0.12405	0.1591:0.0:0.6862:0.1547	5.934	0.18390	907	0.22727	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	692.33	34	chr2	36578854	.	G	C	692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.475;DP=799;ExcessHet=0;FS=4.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=1.26;SOR=1.426	GT:AD:DP:GQ:PL	0/1:25,27:52:99:706,0,608	18	0	1	0
chr2	43813208	43813208	T	C	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon13:c.A1864G:p.M622V	Sitosterolemia, Autosomal recessive	0	1457	65	0	0	65	0.0218194	.	.	.	191425	Sitosterolemia_2|Sitosterolemia_1|Cardiovascular_phenotype|not_provided|Sitosterolemia|not_specified	MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.011	.	0.0052	0.00239617	0.0054	0.0016	0.0041	0.0006	0.0003	0.0074	0.0102	0.0051	0.005401	835	154602	rs140374206	0.0061	0.0061	0.0060	0.0062	0.0202	0.0060	0.0059	0.0172	0.0161	0.0019	0.0048	0.0155	0.0002	0.0006	0.0202	0.0064	0.0071	0.0055	0.0048	0.0048	0.0050	0.0045	0.0066	0.0045	0.0044	0.0061	0.0059	0.0014	0.0011	0.0057	0.0193	0	0	0.0544	0.0066	0.0109	0.0041	0.531	0.07002	T	0.144	0.33109	T	0.0	0.02946	B	0.0	0.01387	B	0.216745	0.03425	N	1.568630	1	0.08975	N	0	0.06538	N	-2.49	0.89145	D	-0.36	0.13035	N	0.018	0.00252	-0.6531	0.62579	T	0.334	0.70125	T	10	0.0076950192	0.00175	T	.	.	.	0.011	0.01250	.	.	0.504052602331	0.50044	0.7185875474098846	0.71801	0.0703236255297	0.07878	0.225100964308	0.01626	T	0.198767	0.55585	T	-0.493517	0.00622	T	-0.472284	0.25270	T	0.000250442206110192	0.00002	T	0.458654	0.13238	T	0.097186916	0.22905	0.107392155	0.25852	0.10175871	0.24038	0.097454526	0.23198	-2.812	0.08294	T	.	.	0.056	0.00487	B	.;.	.;.	-0.629185	0.01494	0.094	0.68266087374631024	0.08605	0.02739	0.07414	N	AEFBI	0.158635	0.28432	N	-1.60752377494272	0.01227	0.05337413	-1.64739804604442	0.01389	0.06277521	0.781759617847762	0.23856	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	-5.22	0.02592	-0.667000	0.05374	-2.542000	0.03629	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.673000	0.33338	0.1141:0.5016:0.0:0.3844	8.877	0.34510	650	0.62973	.;.	.	.	.	.	.	Likely benign	0	0	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	0.017623	0.040404	0.023098	0.017544	0.000000	0.000000	0.009146	0.011364	0.02632	1409.33	34	chr2	43813208	.	T	C	1409.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.303;DP=783;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-0.052;SOR=0.724	GT:AD:DP:GQ:PL	0/1:33,55:88:99:1423,0,828	18	0	1	0
chr2	44280851	44280851	C	T	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon2:c.C566T:p.T189M	Cystinuria, Autosomal recessive, Autosomal dominant	10	1495	15	2	0	19	0.00631439	.	.	.	719883	Cystinuria|not_provided	Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.968	0.669249309455	0.0042	0.00119808	0.0026	0.0006	0.0026	0	0.0002	0.0039	0.0022	0.0015	0.0027037	418	154602	rs140317484	0.0039	0.0039	0.0038	0.0039	0.0081	0.0038	0.0038	0.0063	0.0056	0.0006	0.0023	0.0011	2.52e-05	0.0003	0.0081	0.0046	0.0031	0.0014	0.0029	0.0029	0.0030	0.0028	0.0048	0.0027	0.0026	0.0042	0.0041	0.0008	0.0011	0.0048	0.0003	0.0002	0.0002	0.0102	0.0047	0.0033	0.0008	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000002	0.62929	D	0.057373	1	0.81001	D	4.44	0.98786	H	-6.59	0.99734	D	-4.76	0.83625	D	0.753	0.76019	0.753	0.93827	D	0.990	0.99727	D	10	0.111916244	0.20973	T	0.669249	0.97238	D	0.968	0.99597	.	.	0.962578441827	0.96218	0.833905129635974	0.83349	0.0336267795191	0.03527	0.457308322191	0.32941	T	0.445912	0.99945	T	0.209523	0.74784	D	0.532194	0.95259	D	0.130563631088554	0.15434	T	0.973903	0.98076	D	0.83964694	0.86583	0.77218	0.86552	0.7815047	0.82748	0.7895046	0.87615	-10.176	0.75705	D	0.8433856664751872	0.91136	0.140	0.32054	B	.;.;.;.;.;.	.;.;.;.;.;.	5.116103	0.85548	28.6	0.99908951329891671	0.97875	0.97042	0.72354	D	AEFDBI	0.893492	0.83150	D	0.876648716003994	0.90571	10.464	0.742196447383394	0.85572	8.621012	0.999999722158397	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	5.501000	0.66665	7.632000	0.62779	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.101	0.89434	848	0.35897	Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;Glycosyl hydrolase, family 13, catalytic domain|Glycosyl hydrolase, family 13, catalytic domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.015152	0.005435	0.014620	0.000000	0.000000	0.006098	0.007576	0.02632	1001.33	38	chr2	44280851	.	C	T	1001.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.15;DP=717;ExcessHet=0;FS=0.855;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.407;SOR=0.844	GT:AD:DP:GQ:PL	0/1:39,40:79:99:1015,0,904	18	0	1	0
chr2	73249174	73249174	A	G	exonic	CCT7	.	nonsynonymous SNV	CCT7:NM_001009570:exon3:c.A355G:p.M119V,CCT7:NM_001166284:exon6:c.A706G:p.M236V,CCT7:NM_006429:exon8:c.A967G:p.M323V,CCT7:NM_001166285:exon9:c.A835G:p.M279V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	.	0.0009	0.00339457	0.0079	0.0003	0.0002	0	0.0732	0.0063	0.0222	0.0004	0.0061772	955	154602	rs139247672	0.0036	0.0036	0.0036	0.0035	0.0007	0.0035	0.0034	0.0006	0.0006	0.0003	6.856e-05	0.0126	0	0.0707	0.0002	0.0007	0.0048	0.0004	0.0057	0.0057	0.0031	0.0083	0.0014	0.0054	0.0053	0.0012	0.0011	0.0003	0	0.0001	0.0127	0	0.0664	0	0.0014	0.0024	0.0008	0.598	0.08508	T	0.761	0.25438	T	0.004	0.12183	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.2	0.30300	L	-1.11	0.77466	T	-0.29	0.14193	N	0.751	0.75559	-0.9316	0.43903	T	0.125	0.42945	T	10	0.006125331	0.00138	T	.	.	.	0.335	0.65718	.	.	0.426936546926	0.42313	0.7979695325777644	0.79749	0.471672694869	0.46430	0.682282447815	0.64596	T	0.276234	0.64881	T	-0.245972	0.14596	T	-0.125694	0.61331	T	0.0790525893353293	0.09865	T	0.872913	0.58144	D	0.20503122	0.42632	0.10082272	0.24117	0.20348373	0.42428	0.10082272	0.24116	-7.974	0.63785	D	0.2157208687744676	0.29005	0.092	0.14247	B	.;.;.;.	.;.;.;.	2.999388	0.40067	21.1	0.51586663721877868	0.04590	0.95904	0.66656	D	AEFBCI	0.951620	0.96635	D	-0.200538172552351	0.33111	1.874935	-0.00960361017426635	0.39279	2.326576	0.999993479141609	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.78	3.63	0.40741	9.053000	0.93310	8.160000	0.76734	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9158:0.0:0.0842:0.0	9.585	0.38675	587	0.69154	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1094.33	35	chr2	73249174	.	A	G	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=685;ExcessHet=0;FS=1.021;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=0.19;SOR=0.54	GT:AD:DP:GQ:PL	0/1:21,42:63:99:1108,0,471	18	0	1	0
chr2	84584059	84584059	T	C	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon15:c.T2290C:p.Y764H	.	436	1076	10	0	0	10	0.00462535	.	.	.	3192400	DNAH6-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.183	.	.	0.00579073	0.0038	0	0.0004	0	0	0	0	0.0273	0.0032276	499	154602	rs200199170	0.0016	0.0016	0.0009	0.0024	0.0258	0.0015	0.0015	0.0249	0.0246	0	2.236e-05	0	0	0	0.0012	1.169e-05	0.0016	0.0258	0.0008	0.0008	0.0004	0.0013	0.0261	0.0007	0.0007	0.0224	0.0210	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0261	0.051	0.39334	T	.	.	.	0.614	0.39766	P	0.293	0.40773	B	0.001272	0.39594	N	0.000000	0.892514	0.35984	D	2.32	0.66415	M	1.67	0.27331	T	-4.11	0.74980	D	0.739	0.74098	-0.7467	0.58107	T	0.174	0.51785	T	10	0.0076731145	0.00174	T	.	.	.	0.183	0.45592	0.436	0.48828	0.408853032482	0.40503	0.7354688801750067	0.73491	0.147024445095	0.16587	0.763294935226	0.76421	T	0.038791	0.24963	T	-0.335125	0.05734	T	-0.234563	0.51328	T	0.146278109477469	0.16804	T	0.777622	0.41060	T	0.29990986	0.52897	0.32841283	0.58730	0.29990986	0.52897	0.32841283	0.58729	-5.546	0.42296	T	.	.	0.335	0.55549	B	.;.	.;.	3.978615	0.58476	24.0	0.99183095809638688	0.54730	0.93454	0.58260	D	AEI	0.637185	0.61606	D	0.439094723694174	0.63586	4.595334	0.446326584897032	0.64482	4.704304	0.907342551405763	0.26256	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	6.144000	0.71525	7.829000	0.70041	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.0:0.0:1.0	14.995	0.71077	823	0.40596	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1636.33	33	chr2	84584059	.	T	C	1636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.522;DP=784;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=-0.071;SOR=0.717	GT:AD:DP:GQ:PL	0/1:89,73:162:99:1650,0,2198	18	0	1	0
chr2	84621332	84621332	G	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon25:c.G3934T:p.V1312L	.	436	1075	11	0	0	11	0.00509024	.	.	.	3206927	DNAH6-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.207	.	.	0.00698882	0.0111	0	0.0049	0.0016	0	0	0	0.0299	0.0018823	291	154602	rs536205406	0.0018	0.0017	0.0010	0.0026	0.0291	0.0017	0.0017	0.0281	0.0277	0	2.801e-05	0	0.0009	0	0.0014	1.39e-05	0.0020	0.0291	0.0011	0.0011	0.0006	0.0016	0.0313	0.0010	0.0009	0.0272	0.0257	0	0	0	0	0.0025	0	0	1.47e-05	0.0005	0.0313	0.195	0.20759	T	.	.	.	0.011	0.15914	B	0.02	0.19048	B	.	.	.	.	0.993671	0.42016	D	1.065	0.27018	L	0.31	0.58613	T	-1.1	0.28497	N	0.556	0.58117	-0.9377	0.42979	T	0.139	0.45810	T	9	0.0050103962	0.00108	T	.	.	.	0.207	0.49555	0.729	0.86286	0.57674044448	0.57342	0.8791307904824415	0.87880	0.0816516279141	0.09195	0.569755673409	0.48643	T	0.005429	0.04881	T	-0.319592	0.06931	T	-0.210219	0.53675	T	0.0455757744952358	0.04706	T	0.80432	0.45191	T	0.21282794	0.43646	0.22386102	0.47278	0.21282794	0.43646	0.22386102	0.47277	-6.472	0.50070	T	.	.	0.311	0.53861	B	.;.	.;.	4.724952	0.76048	26.4	0.99273695377691173	0.57661	0.96174	0.67873	D	AEFI	0.742885	0.68636	D	-0.0139051730231737	0.41226	2.462145	0.183516655819133	0.48944	3.10372	0.999101509176022	0.38452	0.549168	0.22868	0	0.588015	0.36545	0	0.624306	0.44879	0	0.616125	0.45549	0	.	.	5.02	5.02	0.66742	5.338000	0.65718	11.769000	0.95814	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.109	0.86547	698	0.58074	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001232	0.000000	0.000000	0.004386	0.000000	0.000000	0.000000	0.000000	0.02632	1787.33	35	chr2	84621332	.	G	T	1787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.582;DP=746;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-1.87;SOR=0.595	GT:AD:DP:GQ:PL	0/1:60,77:137:99:1801,0,1532	18	0	1	0
chr2	85542218	85542218	A	G	exonic	MAT2A	.	nonsynonymous SNV	MAT2A:NM_005911:exon6:c.A613G:p.I205V	.	.	.	.	.	.	.	.	.	.	.	1041703	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Cardiovascular_phenotype	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.266	0.00830280904841	7.7e-05	.	5.765e-05	9.61e-05	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs141849127	3.42e-05	3.42e-05	2.45e-05	4.4e-05	0.0004	2.631e-05	2.375e-05	0.0003	0.0003	0	0	0	5.038e-05	0	0	9.892e-06	3.312e-05	0.0004	3.286e-05	3.283e-05	3.854e-05	2.69e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.388	0.10909	T	0.345	0.18789	T	0.0	0.02946	B	0.004	0.10090	B	0.000001	0.84330	D	0.099244	0.999878	0.50225	D	0.915	0.23335	L	-1.49	0.81235	T	-0.26	0.12283	N	0.131	0.12627	-0.6577	0.62377	T	0.311	0.68157	T	10	0.15236115	0.28780	T	0.008303	0.21979	T	0.266	0.57999	.	.	0.455605821045	0.45183	0.7949033704414055	0.79443	1.02032609309	0.75088	0.726032733917	0.70927	T	0.297459	0.67005	T	-0.270485	0.11703	T	-0.29005	0.45767	T	0.104021761690397	0.12793	T	0.922708	0.71908	D	0.080792956	0.18531	0.0733744	0.15937	0.080792956	0.18531	0.0733744	0.15937	-6.434	0.49938	T	.	.	0.124	0.26074	B	.;.	.;.	3.094120	0.41671	21.4	0.95918812102622797	0.28181	0.95675	0.65680	D	AEFDBHCI	0.589109	0.58612	D	-0.0612019957879733	0.39103	2.300696	0.160696261355369	0.47713	2.997317	0.999999991704964	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	6.04	6.04	0.98025	4.139000	0.57788	9.368000	0.80425	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9186:0.0:0.0814:0.0	8.968	0.35051	596	0.68392	S-adenosylmethionine synthetase, 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	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1232.33	43	chr2	85542218	.	A	G	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=775;ExcessHet=0;FS=3.093;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.6;ReadPosRankSum=0.674;SOR=1.132	GT:AD:DP:GQ:PL	0/1:32,47:79:99:1246,0,823	18	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	5735.91	312	chr2	94876587	.	C	A	5735.91	.	AC=12;AF=0.316;AN=38;BaseQRankSum=0.916;DP=3920;ExcessHet=11.1788;FS=8.574;InbreedingCoeff=-0.4693;MLEAC=12;MLEAF=0.316;MQ=58.28;MQRankSum=-15.51;QD=1.91;ReadPosRankSum=-3.532;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,21:265:99:0|1:94876587_C_A:147,0,10142:94876587	7	0	12	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	26792.8	425	chr2	94876618	.	C	G	26792.8	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.341;DP=5489;ExcessHet=20.8569;FS=1.497;InbreedingCoeff=-0.6522;MLEAC=15;MLEAF=0.395;MQ=57.4;MQRankSum=-17.98;QD=5.28;ReadPosRankSum=-2.883;SOR=0.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,68:360:99:0|1:94876587_C_A:1976,0,12056:94876587	4	0	15	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.4474	37055.9	473	chr2	94876632	.	C	T	37055.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-5.11;DP=6526;ExcessHet=31.086;FS=0;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.07;MQRankSum=-18.76;QD=5.89;ReadPosRankSum=-1.429;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,94:406:99:0|1:94876587_C_A:2967,0,12776:94876587	2	0	17	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	43084.9	563	chr2	94876671	.	A	G	43084.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.332;DP=7395;ExcessHet=31.086;FS=1.384;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.94;MQRankSum=-20.34;QD=5.94;ReadPosRankSum=4.74;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,104:438:99:0|1:94876671_A_G:3362,0,13540:94876671	2	0	17	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.4474	46132.9	570	chr2	94876674	.	G	A	46132.9	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-7.405;DP=7437;ExcessHet=31.086;FS=0.657;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=56.92;MQRankSum=-20.34;QD=6.34;ReadPosRankSum=4.97;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:340,104:444:99:0|1:94876671_A_G:3344,0,13699:94876671	2	0	17	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:313,82:395:99:.:.:1358,0,7999:.	3	0	16	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:155,51:206:99:1129,0,4219	0	0	19	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:204,26:230:99:218,0,5908	5	0	14	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:182,152:334:99:3339,0,4814	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:175,108:283:99:2800,0,4860	0	0	19	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:183,93:276:99:2192,0,5256	0	0	19	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,36:131:99:0|1:95859969_A_AT:1201,0,3881:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,35:130:99:0|1:95859969_A_AT:1163,0,3884:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,34:129:99:0|1:95859969_A_AT:1142,0,3887:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:92,29:121:99:861,0,2513	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,25:127:99:0|1:95860002_T_A:743,0,4052:95860002	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,25:128:99:0|1:95860002_T_A:740,0,4064:95860002	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,21:113:99:0|1:95860020_G_A:605,0,3739:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,21:112:99:0|1:95860020_G_A:608,0,3717:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:79,11:90:99:225,0,2170	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,32:127:99:0|1:95927222_G_GAT:1058,0,3893:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,45:144:99:0|1:95927222_G_GAT:1592,0,4022:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,59:163:99:0|1:95927222_G_GAT:2164,0,4189:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,97:207:99:0|1:95927222_G_GAT:3742,0,4327:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,130:255:99:0|1:95927222_G_GAT:5062,0,4845:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,133:261:99:0|1:95927222_G_GAT:5118,0,4874:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,45:158:99:0|1:95929092_T_C:1470,0,4501:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,54:183:99:0|1:95929092_T_C:1879,0,5254:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,67:218:99:0|1:95929092_T_C:2359,0,6139:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,72:219:99:.:.:2563,0,6158:.	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,73:224:99:0|1:95929092_T_C:2605,0,6100:95929092	0	0	19	0
chr2	96024538	96024538	G	A	exonic	GPAT2	.	nonsynonymous SNV	GPAT2:NM_001321529:exon14:c.C1363T:p.R455C,GPAT2:NM_001321530:exon14:c.C1345T:p.R449C,GPAT2:NM_001321525:exon15:c.C1576T:p.R526C,GPAT2:NM_001321526:exon15:c.C1576T:p.R526C,GPAT2:NM_001321527:exon15:c.C1576T:p.R526C,GPAT2:NM_001321528:exon15:c.C1576T:p.R526C,GPAT2:NM_207328:exon15:c.C1558T:p.R520C,GPAT2:NM_001321531:exon16:c.C1558T:p.R520C	.	430	1079	13	0	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.360	0.107826512024	0.0069	0.00219649	0.0060	0.0015	0.0018	0	0.0020	0.0086	0.0045	0.0064	0.0063389	980	154602	rs2579514	0.0097	0.0097	0.0097	0.0096	0.0113	0.0096	0.0095	0.0111	0.0111	0.0016	0.0024	0.0115	5.038e-05	0.0017	0.0052	0.0113	0.0076	0.0063	0.0059	0.0059	0.0064	0.0053	0.0100	0.0055	0.0054	0.0094	0.0092	0.0019	0	0.0025	0.0115	0.0002	0.0019	0.0068	0.0100	0.0038	0.0046	0.075	0.38633	T	0.061	0.45530	T	0.995	0.77913	D	0.629	0.62312	P	0.039907	0.24117	N	0.433683	0.866083	0.35475	D	1.79	0.46772	L	-1.18	0.78314	T	-2.87	0.60348	D	0.413	0.45615	-0.0349	0.81527	T	0.373	0.73197	T	10	0.008728266	0.00198	T	0.107827	0.78408	D	0.360	0.68052	.	.	0.780935779709	0.77891	0.3718647657975317	0.37100	1.24239440514	0.81593	0.490861952305	0.37558	T	0.19526	0.55129	T	-0.31901	0.06978	T	-0.220624	0.52677	T	0.0104605663342505	0.00144	T	0.873613	0.58243	D	0.18516286	0.39866	0.10823617	0.26070	0.18516286	0.39866	0.10823617	0.26069	-6.424	0.49696	T	.	.	0.102	0.18331	B	.;.;.	.;.;.	3.932541	0.57488	23.9	0.99889263894804836	0.96359	0.77108	0.37877	D	AEFBCI	0.393372	0.47104	N	0.296037873417817	0.55947	3.75889	0.253188650728571	0.52832	3.455345	0.498637974936373	0.20923	0.553676	0.25195	0	0.514364	0.08380	0	0.505578	0.09266	0	0.620846	0.47308	0	.	.	4.63	4.63	0.57175	1.902000	0.39479	7.494000	0.59405	0.640000	0.52149	0.938000	0.32564	1.000000	0.68203	0.009000	0.08673	0.0:0.0:1.0:0.0	12.861	0.57303	292	0.88363	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002717	0.002924	0.000000	0.000000	0.021341	0.007576	0.02632	1224.33	33	chr2	96024538	.	G	A	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.946;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=-0.493;SOR=0.685	GT:AD:DP:GQ:PL	0/1:37,49:86:99:1238,0,906	18	0	1	0
chr2	96857983	96857983	G	A	exonic	ANKRD39	.	nonsynonymous SNV	ANKRD39:NM_016466:exon1:c.C5T:p.A2V	.	431	1084	7	0	0	7	0.00321839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.924015195089	0.0018	0.000798722	0.0024	0	0.0021	0	0.0058	0.0059	0	0.0001	0.001216	188	154602	rs200576046	0.0020	0.0020	0.0021	0.0020	0.0064	0.0020	0.0019	0.0048	0.0042	0.0005	0.0006	0.0024	0	0.0010	0.0064	0.0023	0.0019	0.0002	0.0015	0.0015	0.0017	0.0013	0.0026	0.0014	0.0013	0.0023	0.0021	0.0005	0	0.0006	0.0014	0	0.0009	0.0240	0.0026	0.0024	0.0002	0.0	0.91255	D	0.115	0.36630	T	0.989	0.62824	D	0.358	0.43079	B	0.001751	0.38106	U	0.101047	0.855429	0.28435	N	2.24	0.63355	M	-0.25	0.67011	T	-1.26	0.31778	N	0.165	0.17416	-0.5739	0.65860	T	0.228	0.59309	T	10	0.01957041	0.00439	T	0.924015	0.99443	D	0.232	0.53354	.	.	0.784192324939	0.78219	0.4955871684034741	0.49479	0.734712489315	0.62915	0.655134141445	0.60715	T	0.032949	0.22707	T	-0.296773	0.08968	T	-0.202748	0.54385	T	0.0527603069960655	0.05979	T	0.433957	0.11861	T	0.31874722	0.54534	0.54148823	0.73500	0.31874722	0.54534	0.54148823	0.73501	-6.139	0.47427	T	.	.	0.196	0.41723	B	.	.	3.598466	0.50813	23.0	0.9987119828420149	0.94902	0.03074	0.07987	N	ALL	0.205951	0.33225	N	0.0874469861908864	0.45879	2.837053	0.0300529917057093	0.41117	2.464954	0.999999999999991	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.81	4.81	0.61401	0.187000	0.16806	8.420000	0.77146	0.673000	0.70640	0.001000	0.13787	1.000000	0.68203	0.027000	0.12703	0.0:0.0:1.0:0.0	13.255	0.59500	115	0.95340	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004639	0.000000	0.008242	0.005882	0.000000	0.000000	0.000000	0.003817	0.02632	584.33	35	chr2	96857983	.	G	A	584.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.954;DP=698;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=0.447;SOR=0.49	GT:AD:DP:GQ:PL	0/1:24,23:47:99:598,0,556	18	0	1	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	0.02632	1445.33	34	chr2	96877946	.	G	T	1445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.536;DP=775;ExcessHet=0;FS=0.625;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.83;ReadPosRankSum=0.094;SOR=0.6	GT:AD:DP:GQ:PL	0/1:86,61:147:99:1459,0,2203	18	0	1	0
chr2	97091553	97091553	C	T	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G154A:p.V52I,FAHD2B:NM_199336:exon2:c.G154A:p.V52I,FAHD2B:NM_001320848:exon3:c.G154A:p.V52I	.	422	1063	35	2	0	39	0.0180139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.00173163364902	.	.	0.0042	0.0010	0.0058	0	0.0014	0.0058	0.0033	0.0019	0.000414	64	154602	rs201241480	0.0053	0.0062	0.0055	0.0051	0.0166	0.0052	0.0051	0.0139	0.0129	0.0015	0.0042	0.0102	2.519e-05	0.0015	0.0166	0.0059	0.0061	0.0014	0.0048	0.0049	0.0051	0.0046	0.0078	0.0045	0.0044	0.0067	0.0062	0.0013	0	0.0078	0.0121	0	0.0025	0.0374	0.0067	0.0072	0.0021	0.949	0.02151	T	0.918	0.02891	T	0.004	0.12183	B	0.006	0.12133	B	0.000023	0.55875	D	0.069098	0.94745	0.26600	N	1.745	0.45235	L	1.45	0.32482	T	0.21	0.04776	N	0.2	0.22098	-0.9844	0.33975	T	0.017	0.07140	T	10	0.00686273	0.00156	T	0.001732	0.02908	T	0.068	0.19811	.	.	0.115124310173	0.11017	0.19258797205350334	0.19176	1.16890855372	0.79700	0.578303396702	0.49846	T	0.003811	0.03222	T	-0.270776	0.11670	T	-0.626728	0.10663	T	0.000679144243674442	0.00006	T	0.59684	0.22194	T	0.01966555	0.00501	0.034362644	0.02489	0.01966555	0.00501	0.034362644	0.02489	-3.404	0.15110	T	.	.	0.076	0.06069	B	.;.	.;.	-0.358622	0.02371	0.260	0.2118341943439164	0.00796	0.15989	0.19178	N	AEFI	0.073248	0.14644	N	-1.10502397537055	0.06553	0.301989	-1.13329804189448	0.07071	0.3426243	4.67086552133833E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.707	-1.41	0.08473	1.171000	0.31505	-0.204000	0.10916	-1.152000	0.01424	0.795000	0.29657	0.000000	0.08366	0.190000	0.21601	0.0:0.6841:0.3159:0.0	6.207	0.19821	212	0.91760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.016437	0.015152	0.021739	0.028689	0.000000	0.017241	0.012270	0.000000	0.02632	1638.33	57	chr2	97091553	.	C	T	1638.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=1030;ExcessHet=0;FS=10.187;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.43;MQRankSum=-4.538;QD=6.45;ReadPosRankSum=-1.257;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:198,56:254:99:0|1:97091553_C_T:1652,0,8035:97091553	18	0	1	0
chr2	97091559	97091559	C	T	exonic	FAHD2B	.	nonsynonymous SNV	FAHD2B:NM_001320849:exon2:c.G148A:p.G50R,FAHD2B:NM_199336:exon2:c.G148A:p.G50R,FAHD2B:NM_001320848:exon3:c.G148A:p.G50R	.	423	1063	34	2	0	38	0.0175601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00185952859811	.	.	0.0042	0.0010	0.0060	0	0.0014	0.0058	0.0033	0.0019	0.000401	62	154602	rs201521399	0.0052	0.0062	0.0053	0.0050	0.0166	0.0051	0.0050	0.0139	0.0129	0.0015	0.0043	0.0104	2.519e-05	0.0016	0.0166	0.0057	0.0058	0.0013	0.0048	0.0049	0.0050	0.0046	0.0077	0.0045	0.0044	0.0065	0.0061	0.0014	0	0.0077	0.0121	0	0.0026	0.0374	0.0066	0.0076	0.0021	0.108	0.29420	T	0.083	0.41405	T	0.025	0.19245	B	0.013	0.16460	B	0.062582	0.22087	N	0.466822	0.692741	0.30176	N	2.465	0.71551	M	1.51	0.30937	T	-3.74	0.71042	D	0.307	0.34659	-1.0756	0.08225	T	0.032	0.13811	T	10	0.006063968	0.00136	T	0.00186	0.03245	T	0.053	0.14996	0.536	0.64585	0.242244723065	0.23846	0.4310816599483757	0.43025	1.64272014905	0.89387	0.510626316071	0.40310	T	0.118203	0.43885	T	-0.182537	0.23358	T	-0.499978	0.22349	T	0.0192758174834097	0.00633	T	0.677032	0.28590	T	0.11903311	0.28036	0.12738456	0.30665	0.11903311	0.28035	0.12738456	0.30664	-3.809	0.20939	T	.	.	0.093	0.16054	B	.;.	.;.	1.691139	0.21548	15.25	0.7587086688925444	0.11243	0.08906	0.14763	N	AEFI	0.076863	0.15473	N	-0.714474486073387	0.15613	0.7884411	-0.804707894553468	0.14382	0.75116	1.70633620179861E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.707	-0.396	0.11808	1.903000	0.39488	-0.078000	0.12213	0.181000	0.17804	0.312000	0.25432	0.000000	0.08366	0.384000	0.26424	0.0:0.7212:0.0:0.2788	4.755	0.12452	212	0.91760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015924	0.015152	0.021739	0.024590	0.000000	0.017241	0.012346	0.000000	0.02632	1618.33	57	chr2	97091559	.	C	T	1618.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.84;DP=1028;ExcessHet=0;FS=10.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.13;MQRankSum=-4.318;QD=6.53;ReadPosRankSum=-0.713;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,54:248:99:0|1:97091553_C_T:1632,0,7912:97091553	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	9025.83	153	chr2	97185336	.	GC	G	9025.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.382;DP=2743;ExcessHet=31.086;FS=1.658;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=47.08;MQRankSum=-6.249;QD=3.62;ReadPosRankSum=0.503;SOR=0.504	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,26:132:99:0|1:97185336_GC_G:773,0,4370:97185336	2	0	17	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8913.86	155	chr2	97185340	.	C	G	8913.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.075;DP=2782;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.92;MQRankSum=-5.789;QD=3.53;ReadPosRankSum=0.964;SOR=0.511	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,26:134:99:0|1:97185336_GC_G:767,0,4457:97185336	2	0	17	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8891.83	152	chr2	97185341	.	A	AG	8891.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.346;DP=2792;ExcessHet=31.086;FS=1.696;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=46.81;MQRankSum=-5.722;QD=3.51;ReadPosRankSum=1.18;SOR=0.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,26:133:99:0|1:97185336_GC_G:770,0,4415:97185336	2	0	17	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8743.83	157	chr2	97185345	.	GTAAT	G	8743.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.208;DP=2918;ExcessHet=31.086;FS=1.743;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=46.15;MQRankSum=-5.332;QD=3.29;ReadPosRankSum=2.28;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,28:146:99:0|1:97185336_GC_G:821,0,4851:97185336	2	0	17	0
chr2	97185463	97185463	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon30:c.C1994T:p.A665V	.	473	1039	9	1	0	11	0.00526568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000856481893255	.	.	1.028e-05	0	0	0	0	0	0	7.184e-05	6.5e-06	1	154602	rs75833559	6.854e-07	1.368e-06	1.364e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.231	0.25061	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	2.28	0.17271	T	-0.12	0.08809	N	0.032	0.00825	-0.9609	0.39012	T	0.011	0.04181	T	9	0.024200886	0.00658	T	8.56E-4	0.00734	T	0.014	0.01968	.	.	0.0138822411134	0.00435	.	.	.	.	0.743070244789	0.73424	T	0.009014	0.08238	T	-0.403894	0.02183	T	-0.817942	0.01494	T	0.0093427544450017	0.00119	T	0.645735	0.25721	T	0.01868397	0.00391	0.033223134	0.02182	0.01868397	0.00391	0.033223134	0.02182	0.645	0.00185	T	.	.	0.086	0.24123	B	.;.	.;.	-0.742138	0.01226	0.062	0.12259307603739275	0.00208	0.00022	0.00232	N	AEFBI	0.011068	0.00091	N	-1.92734804361364	0.00301	0.01294208	-1.94461049785471	0.00398	0.01761863	1.54412391909507E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	1.2	-1.87	0.07317	-0.125000	0.10555	0.003000	0.13321	-0.635000	0.04468	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4714:0.0:0.5286	4.360	0.10632	216	0.91608	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	64.01	177	chr2	97185463	.	C	T	64.01	.	AC=2;AF=0.063;AN=32;BaseQRankSum=0.92;DP=2578;ExcessHet=0.119;FS=39.003;InbreedingCoeff=-0.12;MLEAC=2;MLEAF=0.063;MQ=49.4;MQRankSum=-5.535;QD=0.3;ReadPosRankSum=-2.624;SOR=3.247	GT:AD:DP:GQ:PL	0/1:136,16:152:34:34,0,3961	14	0	2	3
chr2	97243941	97243941	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4403A:p.R1468K	.	591	875	55	1	0	57	0.031544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.00111599007646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436849374	6.883e-07	1.369e-06	0	1.384e-06	9.019e-07	0	0	.	.	0	0	0	0	0	0	9.019e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.321	0.19073	T	0.188	0.29318	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	1.495	0.37439	L	2.34	0.16351	T	-0.84	0.22944	N	0.124	0.11626	-1.0172	0.24625	T	0.027	0.11618	T	9	0.0719215	0.10666	T	0.001116	0.01336	T	0.007	0.00512	.	.	0.0611884634855	0.05136	.	.	.	.	0.696967959404	0.66706	T	0.002586	0.01974	T	-0.358284	0.04228	T	-0.752427	0.03392	T	0.0658219197223839	0.08052	T	0.567243	0.20104	T	0.05432452	0.10408	0.052856594	0.08789	0.05432452	0.10408	0.052856594	0.08789	.	.	.	.	.	0.151	0.33319	B	.;.	.;.	-0.510566	0.01833	0.146	0.79641931180110503	0.12834	0.00665	0.02874	N	AEFI	0.033355	0.03938	N	-1.01331001360076	0.08327	0.3900481	-1.1679063988186	0.06452	0.310638	1.33660293609482E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.467	0.15933	-0.785000	0.04735	-1.647000	0.04992	-0.644000	0.04415	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.2058:0.0:0.7942:0.0	5.569	0.16468	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	65.93	36	chr2	97243941	.	G	A	65.93	.	AC=1;AF=0.028;AN=36;BaseQRankSum=5.03;DP=940;ExcessHet=0;FS=41.626;InbreedingCoeff=-0.0507;MLEAC=1;MLEAF=0.028;MQ=40.72;MQRankSum=-1.696;QD=0.43;ReadPosRankSum=-1.515;SOR=5.506	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,12:153:79:0|1:97243928_G_A:79,0,5870:97243928	17	0	1	1
chr2	97243955	97243955	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4417A:p.V1473M	.	590	849	81	2	0	85	0.0476725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000601302842856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464545187	1.381e-06	1.368e-06	1.373e-06	1.389e-06	6.034e-05	2.3e-07	9e-08	9.99e-06	3.74e-06	6.034e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.072	0.43344	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	2.18	0.18875	T	-0.61	0.18042	N	0.143	0.14338	-1.0301	0.20422	T	0.064	0.26385	T	9	0.118860304	0.22481	T	6.01E-4	0.00274	T	0.057	0.16321	.	.	0.146414634003	0.14194	.	.	.	.	0.764153659344	0.76549	T	0.002011	0.01422	T	-0.348598	0.04816	T	-0.738513	0.03953	T	0.0706987633268221	0.08749	T	0.538946	0.18179	T	0.025526589	0.01501	0.03953559	0.04069	0.025526589	0.01501	0.03953559	0.04069	.	.	.	.	.	0.174	0.38062	B	.;.	.;.	0.916956	0.12915	9.426	0.99162555497301486	0.54155	0.01609	0.05211	N	AEFI	0.021311	0.00936	N	-0.795791736362122	0.13420	0.660932	-0.960271156234613	0.10686	0.5397609	1.09738267022487E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	-0.126	0.12855	-0.092000	0.11094	-8.711000	0.00925	0.347000	0.19874	0.479000	0.26792	0.000000	0.08366	0.002000	0.04165	0.3289:0.0:0.6711:0.0	5.417	0.15679	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	298.09	36	chr2	97243955	.	G	A	298.09	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.94;DP=1574;ExcessHet=0.3672;FS=40.022;InbreedingCoeff=-0.092;MLEAC=3;MLEAF=0.079;MQ=38.89;MQRankSum=-3.689;QD=0.61;ReadPosRankSum=-1.56;SOR=8.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,13:151:99:0|1:97243955_G_A:130,0,5755:97243955	16	0	3	0
chr2	97243956	97243956	T	C	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.T4418C:p.V1473A	.	590	847	83	2	0	87	0.048849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.000513303010245	.	.	.	.	.	.	.	.	.	.	.	.	.	rs934444205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.24277	T	0.332	0.18449	T	0.023	0.18885	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	2.13	0.19588	T	-1.43	0.35194	N	0.122	0.11340	-1.0309	0.20163	T	0.062	0.25744	T	9	0.12386596	0.23518	T	5.13E-4	0.00163	T	0.038	0.09825	.	.	0.128392430309	0.12331	.	.	.	.	0.778462767601	0.78697	T	0.00501	0.04439	T	-0.342858	0.05193	T	-0.730268	0.04316	T	0.0193876803876741	0.00643	T	0.321068	0.06505	T	0.028899712	0.02298	0.036257796	0.03036	0.028899712	0.02298	0.036257796	0.03036	.	.	.	.	.	0.206	0.43269	B	.;.	.;.	-0.260122	0.02797	0.383	0.6572940365307649	0.07855	0.01765	0.05546	N	AEFI	0.022039	0.01053	N	-0.814270253956863	0.12945	0.6343988	-0.97458338646845	0.10358	0.5211802	1.10007016109811E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.197	0.14443	-0.334000	0.07927	-2.096000	0.04219	-0.627000	0.04526	0.469000	0.26714	0.000000	0.08366	0.002000	0.04165	0.0:0.4538:0.0:0.5462	4.056	0.09296	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	324.11	36	chr2	97243956	.	T	C	324.11	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.47;DP=1573;ExcessHet=0.3672;FS=40.022;InbreedingCoeff=-0.0926;MLEAC=3;MLEAF=0.079;MQ=38.89;MQRankSum=-3.689;QD=0.66;ReadPosRankSum=-1.32;SOR=7.168	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,13:152:99:0|1:97243955_G_A:127,0,5777:97243955	16	0	3	0
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2105	1112.14	36	chr2	97243965	.	C	A	1112.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.5;DP=1690;ExcessHet=4.0268;FS=20.316;InbreedingCoeff=-0.2647;MLEAC=8;MLEAF=0.211;MQ=38.8;MQRankSum=-3.599;QD=0.97;ReadPosRankSum=-1.119;SOR=2.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,13:149:99:0|1:97243955_G_A:137,0,5570:97243955	11	0	8	0
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2895	3701.21	121	chr2	97243982	.	A	G	3701.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.663;DP=1984;ExcessHet=8.9063;FS=10.685;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=38.55;MQRankSum=-3.708;QD=2.45;ReadPosRankSum=-0.591;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,20:150:99:0|1:97243981_C_T:449,0,5358:97243981	8	0	11	0
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	198	0.92335	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	4295.86	115	chr2	97243989	.	C	T	4295.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.133;DP=2005;ExcessHet=11.1788;FS=8.896;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=38.19;MQRankSum=-3.269;QD=2.7;ReadPosRankSum=0.333;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,23:146:99:0|1:97243981_C_T:575,0,5055:97243981	7	0	12	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,86:228:99:0|1:97513219_T_C:3184,0,5704:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,90:239:99:0|1:97513219_T_C:3331,0,5955:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,98:255:99:0|1:97513244_G_T:3642,0,6211:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,109:266:99:0|1:97513244_G_T:4018,0,6244:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,109:266:99:0|1:97513244_G_T:4018,0,6244:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,123:284:99:0|1:97513268_C_T:4680,0,6390:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,129:292:99:0|1:97513268_C_T:4855,0,6416:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,129:292:99:0|1:97513268_C_T:4855,0,6416:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,134:296:99:0|1:97513268_C_T:4989,0,6237:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:111,51:162:99:1026,0,2684	0	0	19	0
chr2	100321585	100321585	C	T	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon1:c.G509A:p.G170E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.530536896482	.	.	1.723e-05	0	0	0	0	0	0	9.518e-05	6.5e-06	1	154602	rs757957788	3.631e-06	4.104e-06	1.443e-06	5.847e-06	3.815e-05	1.06e-06	7.7e-07	1.013e-05	4.81e-06	0	0	0	3.111e-05	0	0	0	1.757e-05	3.815e-05	1.315e-05	1.313e-05	1.286e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0	0.0002	0.177	0.22224	T	0.28	0.21678	T	0.005	0.12996	B	0.004	0.10090	B	0.784917	0.06676	U	1.193380	0.999999	0.08975	N	0.655	0.16177	N	-1.74	0.83413	D	-1.55	0.37566	N	0.176	0.18920	-0.8716	0.50409	T	0.249	0.61797	T	10	0.13616371	0.25907	T	0.530537	0.95582	D	0.295	0.61502	0.376	0.38994	0.71789583753	0.71541	0.14799952451372206	0.14721	0.883092311226	0.69844	0.804783880711	0.82692	D	0.006236	0.05676	T	-0.026436	0.47933	T	-0.27575	0.47237	T	0.136002217831019	0.15926	T	0.518348	0.16810	T	0.0649074	0.13818	0.12238308	0.29522	0.0649074	0.13817	0.12238308	0.29521	-3.456	0.15821	T	.	.	0.145	0.31956	B	.	.	1.256644	0.16543	12.61	0.97259892396115544	0.33084	0.02486	0.06960	N	AEFDBHCIJ	0.038803	0.05544	N	-1.17206444035002	0.05426	0.2473485	-1.20756279682702	0.05787	0.2767478	0.999999999993141	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.7	-3.0	0.05148	0.080000	0.14657	-0.598000	0.08285	0.464000	0.21668	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.1426:0.4081:0.2641:0.1852	1.988	0.03231	616	0.66398	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1413.33	33	chr2	100321585	.	C	T	1413.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.318;DP=766;ExcessHet=0;FS=1.548;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.601;SOR=0.556	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1427,0,1015	18	0	1	0
chr2	100571765	100571765	C	G	exonic	PDCL3	.	nonsynonymous SNV	PDCL3:NM_024065:exon5:c.C544G:p.L182V	.	435	1068	16	3	0	22	0.0101946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0209902006365	0.0024	0.00179712	0.0025	0.0008	0.0029	0	0	0.0037	0.0022	0.0008	0.0023738	367	154602	rs143476375	0.0027	0.0027	0.0026	0.0027	0.0215	0.0026	0.0026	0.0184	0.0173	0.0010	0.0035	0.0025	0	0.0002	0.0215	0.0029	0.0036	0.0013	0.0024	0.0024	0.0026	0.0022	0.0036	0.0022	0.0021	0.0033	0.0031	0.0005	0.0340	0.0025	0.0023	0	9.42e-05	0.0204	0.0036	0.0052	0.0006	0.258	0.16683	T	0.462	0.12526	T	0.999	0.77913	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.085	0.57729	M	2.55	0.13795	T	-0.75	0.21003	N	0.751	0.75009	-1.1449	0.01185	T	0.046	0.19599	T	10	0.012798905	0.00274	T	0.02099	0.43686	T	0.169	0.43123	.	.	0.318252033908	0.31440	0.7155559781120975	0.71498	0.26085393997	0.28643	0.636228084564	0.58028	T	0.014871	0.12581	T	-0.310515	0.07703	T	-0.219966	0.52741	T	0.0257021485899063	0.01366	T	0.909409	0.67928	D	0.14566047	0.33380	0.13060042	0.31379	0.14566047	0.33379	0.13060042	0.31378	-9.838	0.72936	D	.	.	0.118	0.24088	B	.	.	2.586580	0.33543	19.37	0.98415843542061332	0.41234	0.88216	0.48045	D	AEFDBCI	0.627630	0.61001	D	0.338169545156009	0.58117	3.982291	0.289564544529349	0.54928	3.656646	0.999993620219114	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.89	3.08	0.34576	2.257000	0.42896	2.206000	0.31328	0.596000	0.33519	0.975000	0.34726	0.992000	0.31684	0.996000	0.76049	0.0:0.6802:0.0:0.3198	8.000	0.29449	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	0.022659	0.045455	0.025815	0.023392	0.000000	0.017241	0.015244	0.000000	0.02632	2890.33	33	chr2	100571765	.	C	G	2890.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.302;DP=849;ExcessHet=0;FS=1.629;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.48;MQRankSum=-0.715;QD=13.08;ReadPosRankSum=-0.985;SOR=0.816	GT:AD:DP:GQ:PL	0/1:107,114:221:99:2904,0,2834	18	0	1	0
chr2	106423468	106423468	G	A	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.C4499T:p.T1500I	.	200	1309	13	0	0	13	0.00494109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0119896907415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273465468	4.199e-05	0.0002	2.786e-05	5.624e-05	0.0006	3.289e-05	2.946e-05	0.0004	0.0004	0	0.0004	0	0	0	0	0	0	0.0006	0.0003	0.0014	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0006	0	0	0	0	0.0002	0.0011	0.0005	0.047	0.40319	D	0.02	0.58613	D	0.736	0.42845	P	0.169	0.35248	B	.	.	.	.	0.990442	0.24170	N	2.65	0.77586	M	0.79	0.49068	T	-3.72	0.70793	D	0.384	0.42541	-0.9758	0.35948	T	0.122	0.42357	T	9	0.27889556	0.45461	T	0.01199	0.30154	T	0.205	0.49236	0.255	0.19533	0.154104182512	0.14974	0.02645934888400776	0.02595	.	.	0.887564063072	0.94954	D	0.07577	0.35257	T	-0.202734	0.20411	T	-0.52899	0.19387	T	0.90847259759903	0.56307	D	0.720928	0.33404	T	0.28036207	0.51083	0.24469802	0.49942	0.28036207	0.51083	0.24469802	0.49941	-3.259	0.13214	T	.	.	0.913	0.83681	P	.;.	.;.	4.146309	0.62163	24.4	0.99662394313883751	0.78011	0.97234	0.73484	D	AEFI	0.591115	0.58734	D	0.0544002248301934	0.44345	2.710265	0.00862253652414415	0.40113	2.388896	5.45496462360253E-5	0.04171	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	2.35	0.28166	7.458000	0.79818	11.915000	0.99681	0.315000	0.19243	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	10.412	0.43482	909	0.22467	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	31.57	33	chr2	106423468	.	G	A	31.57	.	AC=2;AF=0.056;AN=36;BaseQRankSum=1.13;DP=1127;ExcessHet=0.119;FS=14.106;InbreedingCoeff=-0.0701;MLEAC=2;MLEAF=0.056;MQ=29.14;MQRankSum=0.954;QD=0.28;ReadPosRankSum=-2.58;SOR=3.208	GT:AD:DP:GQ:PL	0/1:49,7:56:32:32,0,1387	16	0	2	1
chr2	107827047	107827047	G	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon1:c.G34C:p.V12L	.	50	1425	43	4	0	51	0.0175801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0037	0.00778754	0.0117	0.0015	0.0105	0.0005	0.0007	0.0077	0.0160	0.0369	0.0065523	1013	154602	rs200269994	0.0062	0.0062	0.0053	0.0071	0.0311	0.0061	0.0060	0.0301	0.0297	0.0009	0.0057	0.0112	0.0001	0.0007	0.0187	0.0047	0.0073	0.0311	0.0042	0.0043	0.0039	0.0046	0.0279	0.0040	0.0039	0.0241	0.0226	0.0011	0	0.0041	0.0130	0	0.0002	0.0170	0.0050	0.0057	0.0279	0.078	0.33923	T	0.019	0.59159	D	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.999983	0.18198	N	1.905	0.50856	L	0.17	0.60485	T	-1.08	0.28084	N	0.3	0.33904	-0.9830	0.34305	T	0.098	0.36574	T	9	0.0045077205	0.00093	T	.	.	.	0.074	0.21613	.	.	0.0482279557977	0.04254	0.023948682735829722	0.02345	.	.	0.881772816181	0.94199	D	0.088728	0.38221	T	-0.521336	0.00432	T	-0.497265	0.22632	T	0.00373020266113619	0.00040	T	0.49835	0.15517	T	0.076150656	0.17202	0.07288651	0.15777	0.076150656	0.17202	0.07288651	0.15777	-2.504	0.05808	T	.	.	0.200	0.42302	B	.	.	2.225963	0.28409	17.79	0.72210839047421527	0.09894	0.47494	0.27995	N	AEFI	0.165060	0.29151	N	-1.01880791318778	0.08214	0.3843195	-1.00716027016521	0.09627	0.4800498	1.13447791479607E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	2.33	-0.383	0.11856	0.967000	0.28941	8.571000	0.77606	-0.635000	0.04468	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.5143:0.0:0.4857:0.0	5.184	0.14502	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	0.016112	0.005263	0.004098	0.013423	0.000000	0.017241	0.037267	0.034615	0.05263	1782.83	33	chr2	107827047	.	G	C	1782.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.73;DP=852;ExcessHet=0.119;FS=0.613;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.37;MQRankSum=-1.312;QD=12.13;ReadPosRankSum=-1.511;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:57,36:93:99:0|1:107827047_G_C:775,0,1390:107827047	17	0	2	0
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	20118.8	247	chr2	108259015	.	G	*	20118.8	.	AC=15;AF=0.417;AN=36;BaseQRankSum=0.946;DP=3585;ExcessHet=3.336;FS=0;InbreedingCoeff=-0.1382;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=6.39;ReadPosRankSum=0.017;SOR=0.676	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,148:148:99:.:.:6654,450,0:.	6	3	9	1
chr2	108655105	108655105	A	G	exonic	LIMS1	.	nonsynonymous SNV	LIMS1:NM_001193485:exon1:c.A31G:p.I11V,LIMS1:NM_001371494:exon1:c.A31G:p.I11V,LIMS1:NM_001371499:exon1:c.A31G:p.I11V	.	578	940	3	0	1	4	0.0015932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00211065366782	.	0.000599042	0.0018	0.0004	0.0004	0	0	0.0024	0	0.0031	0.0003074	8	26028	rs552726408	0.0011	0.0011	0.0010	0.0012	0.0017	0.0011	0.0010	0.0013	0.0012	0.0002	0.0008	0.0002	0	0.0002	0.0017	0.0012	0.0009	0.0015	0.0009	0.0009	0.0010	0.0008	0.0026	0.0008	0.0007	0.0019	0.0017	0.0001	0	0.0026	0.0003	0	0.0002	0	0.0011	0.0010	0.0017	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.21260	N	.	.	.	.	.	.	.	.	.	0.053	0.02462	-0.9899	0.32626	T	0.038	0.16376	T	9	0.005480647	0.00121	T	0.002111	0.03908	T	.	.	.	.	.	.	0.04385975325115533	0.04329	.	.	0.347984969616	0.17625	T	0.005921	0.05364	T	-0.711289	0.00031	T	-0.79723	0.01973	T	0.00187266397902224	0.00019	T	0.0343466	0.00230	T	.	.	.	.	.	.	.	.	-2.88	0.08945	T	.	.	0.055	0.00693	B	.;.	.;.	0.268091	0.06459	2.934	0.77926895245624639	0.12082	0.00525	0.02440	N	AEBI	0.036461	0.04863	N	-1.33157701789711	0.03320	0.148091	-1.23865267625697	0.05301	0.2522563	0.999172172741162	0.38651	0.617157	0.39670	1	0.547309	0.14657	0	0.602189	0.34648	0	0.687789	0.68303	1	.	.	5.23	3.35	0.37468	-0.477000	0.06663	0.054000	0.14040	-0.112000	0.15009	0.000000	0.06391	0.000000	0.08366	0.143000	0.20056	0.1539:0.2711:0.575:0.0	6.731	0.22569	872	0.31118	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001245	0.000000	0.001377	0.005682	0.000000	0.000000	0.000000	0.000000	0.02632	292.33	32	chr2	108655105	.	A	G	292.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.38;DP=429;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.54;MQRankSum=0.143;QD=14.62;ReadPosRankSum=1.74;SOR=0.368	GT:AD:DP:GQ:PL	0/1:8,12:20:99:306,0,189	18	0	1	0
chr2	108766553	108766553	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C6014G:p.T2005S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0133560641699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.245	0.17410	T	0.018	0.59732	D	0.999	0.77913	D	0.994	0.82059	D	.	.	.	.	0.996761	0.43403	D	2.505	0.72935	M	1.61	0.28391	T	-2.57	0.55501	D	0.373	0.41459	-0.8378	0.52793	T	0.200	0.55654	T	9	0.41614744	0.56554	T	0.013356	0.32703	T	0.156	0.40720	0.199	0.11247	0.648601781325	0.64568	0.1632440045804664	0.16244	0.956542286108	0.72841	0.628178715706	0.56887	T	0.755272	0.93326	D	-0.110531	0.34681	T	-0.396547	0.33787	T	0.699636697104021	0.40702	D	0.923208	0.72041	D	0.15443169	0.34954	0.23990944	0.49352	0.15443169	0.34954	0.23990944	0.49351	-10.389	0.76207	D	0.5927194685302472	0.65954	0.550	0.66777	A	.	.	3.724962	0.53253	23.3	0.98241169358989555	0.39485	0.99032	0.90231	D	AEFBI	0.856415	0.77365	D	0.809680823488538	0.86710	8.972934	0.802794798490409	0.89986	10.20691	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	7.902000	0.86082	7.716000	0.67067	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	19.953	0.97211	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	4185.33	40	chr2	108766553	.	C	G	4185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.399;DP=1066;ExcessHet=0;FS=3.349;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=51.07;MQRankSum=-1.979;QD=11.28;ReadPosRankSum=-3.046;SOR=0.541	GT:AD:DP:GQ:PL	0/1:210,161:371:99:4199,0,5760	18	0	1	0
chr2	109615093	109615093	C	T	exonic	SOWAHC	.	nonsynonymous SNV	SOWAHC:NM_023016:exon1:c.C604T:p.R202C	.	434	1079	7	2	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.302855200115	0.0001	0.00119808	0.0047	0.0010	0.0046	0	0	0.0002	0	0.0081	0.0004916	76	154602	rs372917403	0.0005	0.0005	0.0003	0.0008	0.0086	0.0005	0.0005	0.0080	0.0078	6.336e-05	0	0	2.799e-05	0	0.0014	4.728e-05	0.0004	0.0086	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	2.94e-05	0	0.0058	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.799	0.58136	P	0.002940	0.35704	N	0.236671	0.981802	0.25012	N	2.62	0.76659	M	1.59	0.28836	T	-3.71	0.70674	D	0.2	0.22098	-1.0526	0.13682	T	0.088	0.34050	T	10	0.005182892	0.00113	T	0.302855	0.90939	D	0.147	0.38986	.	.	0.146414634003	0.14194	0.4825705525211693	0.48177	.	.	0.725829720497	0.70897	T	0.117832	0.43820	T	-0.418869	0.01739	T	-0.366776	0.37265	T	0.0921842563577738	0.11474	T	0.714629	0.32694	T	0.35899708	0.57759	0.2714814	0.53049	0.35899708	0.57760	0.2714814	0.53048	-5.841	0.44930	T	.	.	0.141	0.30971	B	.	.	3.754574	0.53839	23.4	0.99852211400378554	0.93102	0.05636	0.11547	N	AEFDBCI	0.102652	0.20587	N	-0.238732698998468	0.31556	1.770581	-0.377779147922745	0.25661	1.41256	0.999999909914771	0.74766	0.652421	0.48094	0	0.296712	0.05252	1	0.64067	0.45733	0	0.404113	0.06833	1	.	.	3.98	3.98	0.45383	0.025000	0.13469	4.038000	0.41399	0.463000	0.21641	0.000000	0.06391	0.999000	0.35428	0.051000	0.15275	0.0:1.0:0.0:0.0	13.901	0.63306	860	0.33753	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001761	0.000000	0.000000	0.003817	0.000000	0.000000	0.000000	0.007353	0.02632	857.33	33	chr2	109615093	.	C	T	857.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=741;ExcessHet=0;FS=2.056;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=0.083;SOR=0.751	GT:AD:DP:GQ:PL	0/1:33,33:66:99:871,0,810	18	0	1	0
chr2	110794148	110794148	G	A	exonic	ACOXL	.	nonsynonymous SNV	ACOXL:NM_001142807:exon5:c.G319A:p.E107K,ACOXL:NM_001365487:exon5:c.G319A:p.E107K,ACOXL:NM_001371254:exon5:c.G319A:p.E107K	.	428	1061	31	2	0	35	0.0162262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.417	.	0.0031	0.00858626	0.0072	0.0012	0.0054	0.0001	0.0036	0.0048	0.0101	0.0267	0.0067011	1036	154602	rs150003283	0.0057	0.0057	0.0050	0.0064	0.0278	0.0056	0.0056	0.0269	0.0265	0.0010	0.0045	0.0067	0	0.0039	0.0137	0.0044	0.0058	0.0278	0.0046	0.0046	0.0044	0.0047	0.0313	0.0043	0.0042	0.0272	0.0257	0.0009	0.0132	0.0052	0.0037	0.0002	0.0052	0.0204	0.0048	0.0066	0.0313	0.181	0.38633	T	0.997	0.12281	T	0.963	0.55692	D	0.49	0.47330	P	0.017858	0.27622	N	0.269326	0.643766	0.32900	D	0.02	0.07987	N	-3.54	0.94799	D	-1.11	0.28703	N	0.454	0.51137	0.418	0.89363	D	0.620	0.86605	D	10	0.012831628	0.00274	T	.	.	.	0.417	0.72705	.	.	0.759181903428	0.75699	0.4340138023773377	0.43318	0.480607175355	0.47077	0.413700193167	0.26968	T	0.24249	0.61124	T	-0.200347	0.20756	T	-0.0409645	0.67637	D	0.01714679548178	0.00459	T	0.789521	0.45334	T	0.034968484	0.04025	0.05617905	0.09992	0.034968484	0.04025	0.05617905	0.09992	-6.138	0.55811	T	.	.	0.102	0.20235	B	.;.;.	.;.;.	2.961285	0.39439	21.0	0.99908643534056318	0.97875	0.70441	0.34591	D	AEFBI	0.114364	0.22529	N	-0.0346067539696674	0.40293	2.390379	-0.0312167145111858	0.38313	2.255471	0.988516361138336	0.31541	0.719381	0.83141	0	0.610034	0.51514	0	0.723133	0.82415	0	0.530356	0.10902	0	.	.	5.33	3.53	0.39533	2.062000	0.41039	0.634000	0.20256	0.676000	0.76740	0.990000	0.36992	0.084000	0.22431	0.987000	0.62547	0.0824:0.1491:0.7686:0.0	9.015	0.35324	867	0.32089	Acyl-CoA oxidase/dehydrogenase, central domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011581	0.005051	0.013587	0.008772	0.000000	0.008621	0.012195	0.018939	0.05263	2361.83	33	chr2	110794148	.	G	A	2361.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.65;DP=817;ExcessHet=0.119;FS=1.718;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.45;SOR=0.832	GT:AD:DP:GQ:PL	0/1:57,40:97:99:927,0,1434	17	0	2	0
chr2	113439094	113439094	G	A	exonic	CBWD2	.	nonsynonymous SNV	CBWD2:NM_001330339:exon2:c.G23A:p.R8Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00345767519119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1188.33	35	chr2	113439094	.	G	A	1188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.73;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.05;MQRankSum=1.06;QD=21.61;ReadPosRankSum=-0.184;SOR=0.573	GT:AD:DP:GQ:PL	0/1:20,35:55:99:1202,0,533	18	0	1	0
chr2	131491965	131491965	T	G	exonic	MZT2A	.	nonsynonymous SNV	MZT2A:NM_001085365:exon2:c.A230C:p.K77T	.	0	225	1	0	0	1	0.00221729	.	.	.	4037301	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.283	0.0296356961217	.	.	0.0001	0	0	0	0	0.0004	0	0	3.84e-05	1	26028	rs759614565	4.649e-05	4.652e-05	3.676e-05	5.646e-05	0.0002	3.738e-05	3.406e-05	3.004e-05	2.669e-05	0	2.733e-05	0.0006	0	0	0.0002	3.987e-05	8.636e-05	1.25e-05	4.609e-05	4.598e-05	1.288e-05	8.086e-05	7.357e-05	2.113e-05	1.529e-05	2.848e-05	1.86e-05	0	0	6.547e-05	0.0003	0	0	0	7.357e-05	0	0	0.003	0.68238	D	0.012	0.63918	D	0.993	0.65571	D	0.911	0.64720	D	0.000000	0.84330	D	0.048398	0.998675	0.45259	D	2.72	0.79541	M	0.91	0.44856	T	-5.19	0.83625	D	0.563	0.58713	-0.8122	0.54417	T	0.185	0.53391	T	10	0.44930905	0.58597	T	0.029636	0.52109	D	0.283	0.60100	0.594	0.72371	0.56963480967	0.56629	0.6336227710995452	0.63296	1.09675032137	0.77605	0.900795221329	0.96528	D	0.22888	0.59454	T	-0.153515	0.27764	T	-0.298814	0.44848	T	0.950727164745331	0.63400	D	0.939006	0.77019	D	0.6636774	0.76095	0.5251055	0.72563	0.6636774	0.76096	0.5251055	0.72563	-12.666	0.87941	D	.	.	0.640	0.70519	P	.	.	5.328526	0.89429	30	0.99638716256351767	0.76510	0.39698	0.26271	N	AEFDGBCI	0.194557	0.32163	N	0.206419471741423	0.51510	3.331632	0.0566258062627869	0.42394	2.563361	0.999989086992392	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	2.86	1.65	0.23015	3.324000	0.51734	.	.	0.429000	0.20894	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.1512:0.0:0.8488	5.622	0.16740	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	.	.	.	.	.	.	.	.	0.02632	639.33	38	chr2	131491965	.	T	G	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.269;DP=737;ExcessHet=0;FS=3.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.14;MQRankSum=-1.071;QD=9.54;ReadPosRankSum=0.761;SOR=1.284	GT:AD:DP:GQ:PL	0/1:40,27:67:99:653,0,1150	18	0	1	0
chr2	132782991	132782991	G	A	exonic	NCKAP5	.	nonsynonymous SNV	NCKAP5:NM_207363:exon14:c.C3820T:p.R1274C	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	.	.	0.00439297	0.0016	0.0002	8.639e-05	0	0	0.0001	0	0.0112	0.0014553	225	154602	rs535070542	0.0007	0.0007	0.0004	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	2.987e-05	2.236e-05	0	0	0	0.0024	3.688e-05	0.0007	0.0110	0.0004	0.0004	0.0002	0.0006	0.0110	0.0003	0.0003	0.0086	0.0078	0.0001	0	0	0.0003	0	0	0	5.881e-05	0	0.0110	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.92359	D	0.001921	0.37643	U	0.000000	0.999768	0.81001	D	2.545	0.74286	M	1.48	0.31731	T	-4.11	0.74980	D	0.923	0.92667	-0.9513	0.40747	T	0.142	0.46349	T	10	0.009795606	0.00220	T	.	.	.	0.399	0.71321	.	.	0.368394457434	0.36455	0.3935146497504014	0.39266	0.320019156333	0.34209	0.741193532944	0.73149	T	0.044222	0.26749	T	-0.107154	0.35240	T	0.0826999	0.75759	D	0.100738267906844	0.12439	T	0.975469	0.91344	D	0.37069884	0.58637	0.26393282	0.52205	0.37069884	0.58637	0.26393282	0.52204	-9.84	0.72948	D	.	.	0.854	0.79981	P	.;.	.;.	5.659605	0.92865	33	0.99945852775352384	0.99901	0.97216	0.73376	D	AEFBI	0.841248	0.75846	D	0.717797375947227	0.80798	7.375022	0.74258770698927	0.85601	8.629911	0.858515324534032	0.25180	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	5.5	0.81386	6.568000	0.73878	.	.	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	17.770	0.88400	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	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3293.33	33	chr2	132782991	.	G	A	3293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.913;DP=1360;ExcessHet=0;FS=2.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.799;SOR=0.662	GT:AD:DP:GQ:PL	0/1:114,134:248:99:3307,0,2658	18	0	1	0
chr2	135126596	135126596	A	G	exonic	RAB3GAP1	.	nonsynonymous SNV	RAB3GAP1:NM_001172435:exon11:c.A913G:p.I305V,RAB3GAP1:NM_012233:exon11:c.A913G:p.I305V	Warburg micro syndrome 1, Autosomal recessive	4	1474	41	3	0	47	0.0156928	.	.	.	135518	Warburg_micro_syndrome_1|not_specified|RAB3GAP1-related_disorder|not_provided	MONDO:MONDO:0010822,MedGen:C1838625,OMIM:600118,Orphanet:2510|MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.097	.	0.0072	0.00898562	0.0089	0.0021	0.0054	0.0001	0.0026	0.0099	0.0110	0.0189	0.0086804	1342	154602	rs116775947	0.0077	0.0078	0.0072	0.0083	0.0187	0.0076	0.0076	0.0180	0.0177	0.0012	0.0052	0.0198	7.568e-05	0.0024	0.0141	0.0073	0.0083	0.0187	0.0066	0.0065	0.0069	0.0062	0.0228	0.0062	0.0061	0.0194	0.0181	0.0016	0	0.0078	0.0202	0.0002	0.0025	0.0034	0.0086	0.0076	0.0228	0.341	0.12673	T	0.279	0.29442	T	0.0	0.02946	B	0.001	0.04355	B	0.041509	0.23942	N	0.490245	0.999958	0.19072	N	1.04	0.26193	L	0.01	0.62459	T	-0.27	0.12099	N	0.13	0.14338	-1.0304	0.20325	T	0.085	0.33099	T	10	0.005227387	0.00114	T	.	.	.	0.097	0.27909	.	.	0.17948927462	0.17512	0.2884991921773474	0.28762	0.184370431722	0.20736	0.294789135456	0.09627	T	0.061067	0.31556	T	-0.59588	0.00154	T	-0.613122	0.11732	T	0.00159665183169324	0.00016	T	0.777722	0.41106	T	0.027858831	0.02039	0.03528073	0.02750	0.027074276	0.01849	0.05714349	0.10334	-3.78	0.20506	T	0.1100644318538572	0.09261	0.061	0.01449	B	.;.;.	.;.;.	0.537842	0.09066	5.847	0.67689070614332958	0.08430	0.26068	0.22886	N	AEFBCI	0.112483	0.22231	N	-1.17102947563102	0.05442	0.2481394	-1.14005652483478	0.06947	0.3361967	0.991107614601228	0.32374	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.72	-5.78	0.02169	0.048000	0.13962	0.132000	0.15059	-0.191000	0.09375	0.038000	0.20882	0.279000	0.24096	0.981000	0.58702	0.1983:0.6775:0.1243:0.0	14.072	0.64387	832	0.38914	.;.;.	.	.	.	.	rs116775947	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	0.012085	0.000000	0.012228	0.005848	0.000000	0.008621	0.024390	0.011364	0.02632	1143.33	40	chr2	135126596	.	A	G	1143.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.707;DP=772;ExcessHet=0;FS=3.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-2.226;SOR=0.999	GT:AD:DP:GQ:PL	0/1:61,47:108:99:1157,0,1620	18	0	1	0
chr2	142960678	142960678	G	A	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon8:c.G637A:p.D213N,KYNU:NM_003937:exon8:c.G637A:p.D213N,KYNU:NM_001199241:exon9:c.G637A:p.D213N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.016205500901	7.7e-05	.	8.246e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs373954314	4.109e-06	4.105e-06	6.815e-06	1.377e-06	5.403e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.403e-06	0	0	6.579e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.053	0.38863	T	0.092	0.41405	T	0.008	0.14655	B	0.022	0.19653	B	0.000498	0.43931	D	0.260668	0.999988	0.54805	D	2.18	0.61292	M	0.42	0.56937	T	-3.19	0.65512	D	0.273	0.31027	-0.6715	0.61761	T	0.246	0.61495	T	10	0.43572837	0.57780	T	0.016206	0.37354	T	0.197	0.47942	.	.	0.794676578507	0.79276	0.7187372660965697	0.71816	0.0566205886456	0.06256	0.487263202667	0.37060	T	0.607449	0.87509	D	-0.143227	0.29379	T	-0.443512	0.28415	T	0.917368233203888	0.57517	D	0.827017	0.49863	T	0.2561123	0.48649	0.18989725	0.42363	0.2561123	0.48649	0.18989725	0.42362	-8.143	0.63599	D	0.18234390506909112	0.23556	0.096	0.22537	B	.;.;.;.	.;.;.;.	3.584362	0.50547	23.0	0.99811325506449089	0.89531	0.97294	0.73849	D	AEFBI	0.896780	0.83822	D	0.289861361025884	0.55632	3.727405	0.414208647025604	0.62447	4.460473	0.999999999307194	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.35	5.35	0.76297	7.135000	0.76878	8.593000	0.77695	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.847000	0.40026	0.0:0.0:1.0:0.0	19.079	0.93156	921	0.19240	Aminotransferase class V domain;.;Aminotransferase class V domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	54.58	72	chr2	142960678	.	G	A	54.58	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-2.346;DP=1280;ExcessHet=0;FS=140.983;InbreedingCoeff=-0.1354;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.65;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:68,18:86:46:.:.:46,0,1406:.	11	0	1	7
chr2	151494220	151494220	C	T	exonic	NEB	.	nonsynonymous SNV	NEB:NM_004543:exon141:c.G18916A:p.A6306T,NEB:NM_001164507:exon174:c.G24520A:p.A8174T,NEB:NM_001164508:exon174:c.G24520A:p.A8174T,NEB:NM_001271208:exon175:c.G24625A:p.A8209T	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	268544	Nemaline_myopathy_2|NEB-related_disorder|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0137481650275	0.0002	0.000199681	0.0005	0.0002	0.0004	0.0008	0.0005	0.0007	0	9.295e-05	0.0002781	43	154602	rs199937246	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0001	0.0010	0.0009	0	0.0002	0.0021	0.0013	0.0002	0.0017	8.127e-05	0.0002	0.0001	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0003	0.0002	2.407e-05	0	0.0005	0.0014	0.0006	0.0002	0.0034	0.0001	0	0	0.518	0.22053	T	0.021	0.58089	D	0.441	0.35913	B	0.295	0.40843	B	0.000230	0.47286	U	0.000000	0.999779	0.25682	N	1.32	0.33002	L	3.41	0.06762	T	-0.51	0.18248	N	0.236	0.39659	-1.0309	0.20163	T	0.083	0.32556	T	10	0.01606229	0.00338	T	0.013748	0.33388	T	0.101	0.28911	.	.	0.254244900254	0.25046	0.3045127982899019	0.30364	0.0589775743183	0.06548	0.593151688576	0.51938	T	0.007275	0.42647	T	-0.468076	0.00874	T	-0.551554	0.17178	T	0.0387018168484422	0.03457	T	0.0378962	0.00365	T	0.042454317	0.06440	0.07351266	0.15982	0.042454317	0.06440	0.07351266	0.15982	-4.378	0.29257	T	.	.	0.078	0.06849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.510739	0.49159	22.7	0.99081564706982561	0.51978	0.89506	0.50014	D	AEFGBI	0.395881	0.47257	N	-0.00303373769510563	0.41719	2.500405	0.120164528702445	0.45583	2.818768	0.710884306126665	0.22818	0.615465	0.37627	0	0.588015	0.36545	0	0.608075	0.38828	0	0.655142	0.61905	0	.	.	5.96	5.09	0.68647	4.647000	0.61115	.	.	-0.107000	0.15377	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0663:0.1236:0.8101:0.0	11.822	0.51521	800	0.44535	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	2444.83	114	chr2	151494220	.	C	T	2444.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.33;DP=815;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=-0.492;SOR=0.679	GT:AD:DP:GQ:PL	0/1:48,51:99:99:1183,0,1100	17	0	2	0
chr2	151662338	151662338	G	C	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon46:c.C5767G:p.Q1923E,NEB:NM_001164508:exon46:c.C5767G:p.Q1923E,NEB:NM_001271208:exon46:c.C5767G:p.Q1923E,NEB:NM_004543:exon46:c.C5767G:p.Q1923E	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	4	1515	3	0	0	3	0.00098912	.	.	YES	1414833	Nemaline_myopathy_2|Inborn_genetic_diseases	MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.109	0.00838163311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03227	T	1.0	0.07105	T	0.022	0.18677	B	0.058	0.26451	B	0.008194	0.30970	N	0.349225	0.99981	0.23019	N	1.435	0.35949	L	0.98	0.42122	T	-1.22	0.30964	N	0.304	0.34336	-1.0648	0.10596	T	0.068	0.27879	T	10	0.18605113	0.34052	T	0.008382	0.22181	T	0.109	0.30843	0.547	0.66156	0.422040124859	0.41822	0.469396120583915	0.46858	0.0549889752522	0.06090	0.534501492977	0.43668	T	0.020488	0.42827	T	-0.215693	0.18584	T	-0.547604	0.17555	T	0.253146350383759	0.23013	T	0.480552	0.47714	T	0.19070755	0.40667	0.21050718	0.45440	0.19070755	0.40667	0.21050718	0.45439	-2.102	0.03593	T	.	.	0.074	0.05017	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.602376	0.33784	19.44	0.93255477254859886	0.22947	0.89259	0.49616	D	AEFBI	0.252669	0.37231	N	-0.37466164634543	0.26375	1.438976	-0.145781260810442	0.33570	1.921731	0.997396438077351	0.35572	0.549168	0.22868	0	0.627178	0.54094	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.86	4.98	0.65679	1.902000	0.39479	.	.	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.993000	0.69303	0.0:0.2587:0.7413:0.0	15.687	0.77178	878	0.29785	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	332.33	22	chr2	151662338	.	G	C	332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=512;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-0.665;SOR=0.999	GT:AD:DP:GQ:PL	0/1:17,12:29:99:346,0,482	18	0	1	0
chr2	151687483	151687483	G	A	exonic	NEB	.	nonsynonymous SNV	NEB:NM_001164507:exon27:c.C2573T:p.A858V,NEB:NM_001164508:exon27:c.C2573T:p.A858V,NEB:NM_001271208:exon27:c.C2573T:p.A858V,NEB:NM_004543:exon27:c.C2573T:p.A858V	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	.	268543	Inborn_genetic_diseases|Nemaline_myopathy_2|NEB-related_disorder|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009725,MedGen:C1850569,OMIM:256030|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.131	0.0298449609549	8.1e-05	.	0.0002	0	0	0	0	0.0003	0	0	0.0001294	20	154602	rs372217127	8.62e-05	8.619e-05	8.713e-05	8.527e-05	0.0014	7.354e-05	6.904e-05	0.0007	0.0005	2.987e-05	8.945e-05	0.0021	0	0	0.0014	4.137e-05	0.0002	2.319e-05	8.546e-05	8.538e-05	6.426e-05	0.0001	0.0002	4.959e-05	3.964e-05	5.291e-05	2.836e-05	0	0	0.0002	0.0014	0	0	0	7.351e-05	0	0	0.358	0.40832	T	0.059	0.54159	T	0.621	0.39935	P	0.161	0.34794	B	0.000167	0.48594	N	0.176984	0.897018	0.38620	D	1.155	0.29575	L	3.3	0.06368	T	-1.53	0.39314	N	0.688	0.78072	-0.8385	0.52746	T	0.013	0.04938	T	10	0.13296977	0.25307	T	0.029845	0.52278	D	0.131	0.35738	.	.	0.439551795455	0.43578	0.21115558175969198	0.21031	0.288151895696	0.31219	0.546998202801	0.45433	T	0.027969	0.49585	T	-0.322218	0.06718	T	-0.452312	0.27441	T	0.122277095913887	0.14651	T	0.690331	0.38410	T	0.11576778	0.27314	0.14576612	0.34559	0.11576778	0.27314	0.14576612	0.34559	-1.662	0.02131	T	.	.	0.299	0.52905	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.446149	0.47969	22.5	0.72919763062883725	0.10143	0.96854	0.71299	D	AEFGBI	0.804499	0.72934	D	0.093954758176261	0.46180	2.862468	0.230024200417197	0.51521	3.333924	0.999999276966114	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.54	4.67	0.58089	5.419000	0.66174	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.916000	0.45140	0.0779:0.0:0.922:0.0	13.173	0.59033	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	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2144.33	33	chr2	151687483	.	G	A	2144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.373;DP=796;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.73;SOR=0.626	GT:AD:DP:GQ:PL	0/1:75,83:158:99:2158,0,1903	18	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2647	532.04	166	chr2	157321525	.	C	G	532.04	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-3.653;DP=3113;ExcessHet=5.3738;FS=259.756;InbreedingCoeff=-0.3714;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=11.827	GT:AD:DP:GQ:PL	0/1:93,39:149:16:16,0,1563	8	0	9	2
chr2	174877875	174877875	C	T	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.G565A:p.D189N,CHN1:NM_001822:exon6:c.G514A:p.D172N,CHN1:NM_001025201:exon7:c.G514A:p.D172N,CHN1:NM_001371513:exon7:c.G514A:p.D172N	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00700472838458	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.533	0.07163	T	0.564	0.11479	T	0.0	0.02946	B	0.0	0.01387	B	0.018542	0.27457	N	0.421699	0.77319	0.29414	N	0.755	0.19153	N	-0.52	0.70717	T	-0.19	0.09965	N	0.186	0.32148	-0.9908	0.32398	T	0.125	0.43028	T	10	0.08493042	0.14287	T	0.007005	0.18541	T	0.084	0.24469	0.121	0.02793	0.426712279199	0.42290	0.43004795101742194	0.42921	0.303614151573	0.32687	0.415444612503	0.27208	T	0.093999	0.39326	T	-0.198066	0.21084	T	-0.522284	0.20064	T	0.568062543869019	0.35161	D	0.909409	0.67928	D	0.060816955	0.12522	0.048977397	0.07389	0.060816955	0.12522	0.048977397	0.07389	-3.748	0.28358	T	.	.	0.068	0.05711	B	.;.	.;.	3.167569	0.42947	21.6	0.96430523365336163	0.29792	0.91150	0.52958	D	AEFDBHIJ	0.246187	0.36699	N	-0.442411899085144	0.23998	1.292721	-0.201623711603096	0.31479	1.781831	0.999999996944252	0.74766	0.706298	0.61202	0	0.578056	0.33634	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	4.03	0.46115	4.108000	0.57555	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.856:0.0:0.144	11.569	0.50074	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	97.14	75	chr2	174877875	.	C	T	97.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.512;DP=1203;ExcessHet=0;FS=29.875;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.83;SOR=4.946	GT:AD:DP:GQ:PL	0/1:68,19:87:99:110,0,1033	16	0	1	2
chr2	176130551	176130568	CGCACGCGCCCCCGCAGG	-	exonic	HOXD8	.	nonframeshift deletion	HOXD8:NM_001199746:exon1:c.185_202del:p.P65_A70del,HOXD8:NM_019558:exon1:c.185_202del:p.P65_A70del	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0082	0.00758786	0.0022	0.0882	0	0	0	0	0	0.0002	0.0001537	4	26028	rs564911040	0.0006	0.0007	0.0007	0.0005	0.0232	0.0006	0.0006	0.0217	0.0211	0.0232	0.0015	0	0	0	0.0006	3.994e-05	0.0020	9.759e-05	0.0075	0.0076	0.0080	0.0070	0.0261	0.0072	0.0070	0.0248	0.0243	0.0261	0	0.0029	0	0.0002	0	0	8.839e-05	0.0047	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1638.29	43	chr2	176130550	.	CCGCACGCGCCCCCGCAGG	C	1638.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.853;DP=783;ExcessHet=0;FS=4.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.5;ReadPosRankSum=0.111;SOR=0.477	GT:AD:DP:GQ:PL	0/1:41,43:84:99:1652,0,1568	18	0	1	0
chr2	178534724	178534724	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon186:c.G74696A:p.R24899H,TTN:NM_133432:exon187:c.G75071A:p.R25024H,TTN:NM_133437:exon187:c.G75272A:p.R25091H,TTN:NM_133378:exon307:c.G94187A:p.R31396H,TTN:NM_001256850:exon308:c.G96968A:p.R32323H,TTN:NM_001267550:exon358:c.G101891A:p.R33964H	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	1494	27	0	0	27	0.00895522	.	.	.	56807	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided|not_specified|Primary_dilated_cardiomyopathy|Cardiomyopathy|Cardiovascular_phenotype	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900|MedGen:CN169374|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.089	.	0.0014	0.00599042	0.0044	0.0002	0.0011	0	0	0.0018	0.0022	0.0238	0.0037516	580	154602	rs55669553	0.0022	0.0022	0.0016	0.0029	0.0214	0.0022	0.0022	0.0206	0.0203	0.0004	0.0007	0.0008	7.558e-05	7.493e-05	0.0049	0.0010	0.0027	0.0214	0.0018	0.0018	0.0015	0.0021	0.0244	0.0016	0.0015	0.0209	0.0195	0.0002	0	0.0017	0.0009	0	0	0	0.0017	0.0014	0.0244	0.0	0.91255	D	.	.	.	0.105	0.25993	B	0.019	0.18783	B	.	.	.	.	0.999996	0.58761	D	2.965	0.85198	M	0.72	0.50976	T	-3.49	0.69714	D	0.24	0.37509	-0.9165	0.46024	T	0.142	0.46257	T	9	0.0036860704	0.00068	T	.	.	.	0.089	0.25827	.	.	0.202086224978	0.19791	.	.	0.109101829379	0.12303	0.489401757717	0.37355	T	.	.	.	-0.369326	0.03628	T	-0.286368	0.46149	T	0.110552963806189	0.13480	T	0.870213	0.57716	D	.	.	.	.	.	.	.	.	-5.952	0.45876	T	.	.	0.507	0.64884	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.452042	0.31577	18.78	0.92742931441369314	0.22247	0.97406	0.74547	D	AEFBI	.	.	.	0.114307564429706	0.47130	2.943047	0.267253383658903	0.53636	3.531681	0.999999999763111	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.727631	0.95156	0	.	.	6.02	5.14	0.70008	5.062000	0.64156	.	.	-0.173000	0.11020	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9341:0.0:0.0659	15.569	0.76062	373	0.84140	.;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain	.	.	.	.	.	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	0.006042	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.022727	0.05263	4110.83	33	chr2	178534724	.	C	T	4110.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.67;DP=1847;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=1.53;SOR=0.668	GT:AD:DP:GQ:PL	0/1:64,66:130:99:2046,0,1711	17	0	2	0
chr2	178584954	178584954	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon138:c.C37492G:p.P12498A,TTN:NM_133432:exon139:c.C37867G:p.P12623A,TTN:NM_133437:exon139:c.C38068G:p.P12690A,TTN:NM_133378:exon259:c.C56983G:p.P18995A,TTN:NM_001256850:exon260:c.C59764G:p.P19922A,TTN:NM_001267550:exon310:c.C64687G:p.P21563A	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	.	.	.	.	.	.	.	.	.	YES	283999	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|Cardiovascular_phenotype|Hypertrophic_cardiomyopathy_9|not_provided	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN230736|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.593	0.0184940978438	8.4e-05	.	8.396e-06	0	0	0	0	1.522e-05	0	0	2.59e-05	4	154602	rs72646860	1.164e-05	1.163e-05	1.362e-05	9.632e-06	0.0003	7.09e-06	5.8e-06	6.103e-05	2.525e-05	0.0001	0	0	0	0	0.0003	8.997e-06	1.657e-05	0	3.287e-05	3.284e-05	1.285e-05	5.384e-05	7.355e-05	1.261e-05	7.98e-06	2.848e-05	1.859e-05	0	0	0	0	0	0	0	7.355e-05	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	1	0.81001	D	3.35	0.91085	M	-1.29	0.79475	T	-6.43	0.91311	D	0.378	0.60918	0.770	0.94044	D	0.800	0.93241	D	9	0.43722188	0.57871	T	0.018494	0.40571	T	0.593	0.83802	.	.	0.765553852641	0.76341	.	.	0.457628982806	0.45392	0.596329450607	0.52386	T	.	.	.	-0.12236	0.32741	T	-0.107562	0.62806	T	0.533681947976307	0.33870	D	0.916508	0.70155	D	.	.	.	.	.	.	.	.	-7.829	0.60934	D	.	.	0.773	0.76067	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.956253	0.39350	20.9	0.97083790743693466	0.32294	0.99733	0.99053	D	AEFBI	0.956872	0.97569	D	1.13831387496832	0.98783	19.36578	1.07409117223649	0.99617	24.38465	0.99999999999994	0.74766	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.17	6.17	0.99707	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	20.879	0.99870	414	0.81871	.;.;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	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2199.33	35	chr2	178584954	.	G	C	2199.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.995;DP=852;ExcessHet=0;FS=2.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-0.68;SOR=0.886	GT:AD:DP:GQ:PL	0/1:95,82:177:99:2213,0,2800	18	0	1	0
chr2	178712855	178712855	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon91:c.G23438A:p.S7813N,TTN:NM_001256850:exon92:c.G26219A:p.S8740N,TTN:NM_001267550:exon94:c.G27170A:p.S9057N	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	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0131758966293	.	.	4.183e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs768427223	1.163e-05	1.231e-05	6.808e-06	1.651e-05	0.0002	7.09e-06	5.79e-06	0.0001	0.0001	0	0	0	0	0	0	0	0	0.0002	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.471	0.08458	T	.	.	.	0.055	0.22733	B	0.023	0.19966	B	.	.	.	.	0.999987	0.54805	D	.	.	.	-0.4	0.69287	T	-1.15	0.29525	N	0.29	0.32812	-0.9277	0.44473	T	0.151	0.47874	T	9	0.058496773	0.06885	T	0.013176	0.32380	T	0.086	0.25016	0.465	0.53566	0.143124449307	0.13826	.	.	0.0824360099112	0.09297	0.451746702194	0.32182	T	.	.	.	-0.436397	0.01358	T	-0.564306	0.15975	T	0.0265980951928869	0.01488	T	0.566943	0.23084	T	.	.	.	.	.	.	.	.	-2.381	0.06367	T	.	.	0.085	0.10111	B	.;.;.;.	.;.;.;.	1.876115	0.23830	16.17	0.84197374239661527	0.15152	0.45841	0.27627	N	AEFBI	0.124565	0.24068	N	-0.411774149957724	0.25054	1.357332	-0.276868031658715	0.28862	1.612532	0.00287489255554033	0.09767	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.48	1.31	0.20837	0.590000	0.23655	.	.	0.599000	0.40250	0.517000	0.27088	0.434000	0.24870	0.983000	0.59808	0.1407:0.3846:0.4747:0.0	12.528	0.55444	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	6659.33	34	chr2	178712855	.	C	T	6659.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.478;DP=1226;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=-0.382;SOR=0.726	GT:AD:DP:GQ:PL	0/1:239,249:488:99:6673,0,6403	18	0	1	0
chr2	185792126	185792126	G	A	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon16:c.G4990A:p.D1664N	.	428	1091	3	0	0	3	0.001373	.	.	.	3966555	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.195	0.0476939883215	.	0.000599042	0.0012	0	0	0	0	0	0	0.0022	0.0001358	21	154602	rs569770014	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0018	0.0017	0	0.0004	3.992e-05	0	2.953e-05	0.0012	0.0001	0.0004	0.0021	0.0002	0.0002	7.746e-05	0.0003	0.0025	0.0001	9.739e-05	0.0014	0.0011	0	0	0.0004	0	0	0	0	0.0001	0	0.0025	0.055	0.38407	T	0.142	0.33330	T	.	.	.	.	.	.	0.001077	0.40389	N	0.112602	1	0.08975	N	2.325	0.66631	M	0.01	0.62459	T	-4.15	0.75297	D	0.207	0.22998	-0.7340	0.58761	T	0.259	0.63021	T	8	0.01400122	0.00295	T	0.047694	0.63038	D	0.195	0.47612	.	.	0.449088463789	0.44533	0.5581696758350817	0.55743	.	.	0.433680683374	0.29712	T	0.174182	0.52332	T	-0.543511	0.00319	T	-0.559968	0.16380	T	0.118613614928243	0.14294	T	0.636336	0.25008	T	0.12564525	0.29448	0.15569644	0.36485	0.12564525	0.29448	0.15569644	0.36484	-3.24	0.12976	T	.	.	0.105	0.19194	B	.	.	2.468319	0.31809	18.85	0.98714370433386345	0.45098	0.44685	0.27372	N	AEFI	.	.	.	-0.0968816772268129	0.37529	2.184697	-0.172513095613968	0.32552	1.853104	8.40684253490875E-5	0.04703	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.2	4.31	0.50718	2.795000	0.47553	4.480000	0.43530	0.676000	0.76740	0.741000	0.29037	1.000000	0.68203	0.031000	0.13245	0.0:0.0:0.8124:0.1876	10.888	0.46185	781	0.47532	.	.	.	.	.	.	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	0.002695	0.000000	0.000000	0.000000	0.000000	0.000000	0.006024	0.000000	0.02632	2614.33	194	chr2	185792126	.	G	A	2614.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.636;DP=2889;ExcessHet=0;FS=2.392;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=1.23;SOR=0.894	GT:AD:DP:GQ:PL	0/1:100,106:206:99:2628,0,2695	18	0	1	0
chr2	185803399	185803399	T	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.T14093C:p.V4698A	.	432	1083	7	0	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.039174188685	.	0.000399361	0.0018	0	0	0	0	0	0	0.0036	0.0002199	34	154602	rs182963899	0.0004	0.0003	0.0003	0.0005	0.0037	0.0003	0.0003	0.0033	0.0032	0	0.0004	4e-05	0	2.947e-05	0.0023	0.0001	0.0007	0.0037	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0001	0.0021	0.0017	0	0	0.0004	0	0	0	0	0.0001	0	0.0033	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.999608	0.20887	N	1.245	0.31408	L	0.7	0.51474	T	-3.67	0.70191	D	0.217	0.24260	-0.9963	0.30946	T	0.086	0.33466	T	7	0.016221017	0.00341	T	0.039174	0.58658	D	0.159	0.41286	.	.	0.350307294319	0.34646	0.2011767321406828	0.20034	.	.	0.34696751833	0.17475	T	0.088186	0.38105	T	-0.42679	0.01550	T	-0.388882	0.34683	T	0.0631665977021789	0.07657	T	0.313269	0.06152	T	0.2177495	0.44265	0.26292327	0.52091	0.2177495	0.44265	0.26292327	0.52090	-4.554	0.31589	T	.	.	0.126	0.26794	B	.	.	1.000578	0.13788	10.34	0.78148227299068107	0.12176	0.47867	0.28079	N	AEFCI	.	.	.	-0.219174100903874	0.32347	1.823286	-0.196571479347642	0.31663	1.793979	0.0013480638109157	0.08462	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.91	4.91	0.63897	0.988000	0.29216	0.931000	0.22780	-0.178000	0.10482	0.831000	0.30147	0.629000	0.25856	0.009000	0.08673	0.0:0.0:0.0:1.0	10.860	0.46030	736	0.53558	Fibrous sheath-interacting protein 2, 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	0	0	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4760.83	68	chr2	185803399	.	T	C	4760.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.36;DP=1942;ExcessHet=0.119;FS=2.895;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.341;SOR=0.869	GT:AD:DP:GQ:PL	0/1:100,89:189:99:2466,0,2630	17	0	2	0
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3235	1518.25	38	chr2	186504215	.	G	C	1518.25	.	AC=11;AF=0.324;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=12;MLEAF=0.353;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,23:52:99:.:.:188,0,254:.	6	0	11	2
chr2	195809750	195809755	GCTCAT	-	exonic	DNAH7	.	nonframeshift deletion	DNAH7:NM_018897:exon52:c.9878_9883del:p.H3293_E3294del	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	1.506e-05	0	0.0017	0.0001811	28	154602	rs767955666	8.826e-05	9.029e-05	4.736e-05	0.0001	0.0015	7.53e-05	7.068e-05	0.0013	0.0012	3.124e-05	0	0	0	0	0.0002	0	1.703e-05	0.0015	4.605e-05	4.598e-05	1.286e-05	8.084e-05	0.0012	2.111e-05	1.528e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.471e-05	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1075.29	34	chr2	195809749	.	CGCTCAT	C	1075.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.56;DP=676;ExcessHet=0;FS=2.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.86;ReadPosRankSum=1.43;SOR=0.685	GT:AD:DP:GQ:PL	0/1:29,28:57:99:1089,0,1133	18	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	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,35:81:99:.:.:338,0,701:.	1	0	17	1
chr2	200864129	200864129	G	A	exonic	CLK1	.	nonsynonymous SNV	CLK1:NM_001162407:exon1:c.C98T:p.P33L	.	0	225	0	1	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0109111134605	.	0.000798722	0.0011	0	0	0	0	0	0	0.0031	0.0001811	28	154602	rs533474872	0.0002	0.0002	8.322e-05	0.0003	0.0027	0.0002	0.0001	0.0024	0.0023	0	0	0	0	0	0.0004	9.27e-07	0.0003	0.0027	9.846e-05	9.843e-05	7.708e-05	0.0001	0.0031	6.001e-05	4.875e-05	0.0019	0.0015	0	0	0	0	0	0	0	0	0	0.0031	0.102	0.30235	T	0.05	0.48080	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.07	0.63738	T	-0.15	0.09297	N	0.104	0.08786	-1.0599	0.11781	T	0.088	0.34023	T	9	0.003710866	0.00069	T	0.010911	0.27979	T	0.045	0.12272	.	.	0.101711395817	0.09552	0.05086444501505491	0.05028	0.252663030745	0.27833	.	.	.	.	.	.	-0.509637	0.00504	T	-0.508199	0.21501	T	0.0520611932143576	0.05858	T	0.378562	0.09103	T	.	.	.	.	.	.	.	.	-3.353	0.14431	T	.	.	0.106	0.19760	B	.	.	0.342227	0.07159	3.741	0.86528594788807434	0.16597	0.01131	0.04113	N	ALL	0.025861	0.01843	N	-1.54950943791821	0.01538	0.06715565	-1.61243482426466	0.01581	0.0717121	0.999999999954401	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.166054	0.03999	2	0.249971	0.05119	0	.	.	2.28	-2.17	0.06663	0.254000	0.18084	-0.666000	0.07957	-0.483000	0.05064	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.4345:0.2114:0.3541:0.0	3.371	0.06801	347	0.85595	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2153.33	33	chr2	200864129	.	G	A	2153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=866;ExcessHet=0;FS=0.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=-1.242;SOR=0.718	GT:AD:DP:GQ:PL	0/1:119,98:217:99:2167,0,2817	18	0	1	0
chr2	201469980	201469980	C	T	exonic	STRADB	.	nonsynonymous SNV	STRADB:NM_001206864:exon4:c.C121T:p.R41C,STRADB:NM_018571:exon4:c.C121T:p.R41C	.	.	.	.	.	.	.	.	.	.	.	3330873	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.106	0.0246633213159	.	0.000399361	0.0001	0	0	0	0	0	0	0.0008	9.7e-05	15	154602	rs565091574	5.61e-05	5.678e-05	4.493e-05	6.739e-05	0.0008	4.611e-05	4.237e-05	0.0007	0.0006	2.987e-05	0	0	0	0	0	3.597e-06	9.939e-05	0.0008	1.97e-05	1.969e-05	2.571e-05	1.343e-05	0.0004	5.24e-06	2.45e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.002	0.72154	D	0.067	0.44501	T	0.034	0.20480	B	0.003	0.08700	B	0.000675	0.42516	D	0.247202	1	0.08975	N	0	0.06538	N	0.01	0.62918	T	-0.48	0.15379	N	0.096	0.07673	-0.8993	0.48064	T	0.135	0.45049	T	10	0.018655032	0.00408	T	0.024663	0.47647	T	0.106	0.30130	0.34	0.33141	0.0934897674506	0.08844	0.39494961908354703	0.39409	0.996567813786	0.74253	0.257383435965	0.04585	T	0.034843	0.23481	T	-0.393829	0.02541	T	-0.411289	0.32075	T	0.115352342143715	0.13970	T	0.40156	0.10241	T	0.09847948	0.23229	0.08875282	0.20714	0.09847948	0.23229	0.08875282	0.20714	-4.11	0.25730	T	.	.	0.089	0.12181	B	.;.	.;.	2.194357	0.27984	17.65	0.98897701399833737	0.48127	0.27573	0.23315	N	AEFBI	0.288753	0.40057	N	-0.572189002911389	0.19793	1.038692	-0.488541867763473	0.22469	1.220525	0.999617289365011	0.40981	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.683762	0.67416	0	.	.	5.55	5.55	0.83298	2.505000	0.45084	.	.	0.581000	0.30040	0.025000	0.20085	0.387000	0.24645	0.273000	0.23843	0.0:1.0:0.0:0.0	17.674	0.88130	422	0.81333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1053.33	37	chr2	201469980	.	C	T	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.99;DP=720;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.784;SOR=0.839	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1067,0,1132	18	0	1	0
chr2	205047664	205047664	G	A	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_001302769:exon4:c.G478A:p.G160S,PARD3B:NM_057177:exon4:c.G478A:p.G160S,PARD3B:NM_152526:exon4:c.G478A:p.G160S,PARD3B:NM_205863:exon4:c.G478A:p.G160S	.	426	1095	1	0	0	1	0.000456413	.	.	.	3364328	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0125300679663	0.0003	0.000199681	0.0002	0	0	0	0	0.0004	0	0.0001	0.0001358	21	154602	rs191906362	0.0002	0.0002	0.0002	0.0002	0.0036	0.0002	0.0002	0.0023	0.0019	0	0.0002	0	0	4.058e-05	0.0036	0.0002	0.0002	1.263e-05	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.406e-05	0	0.0001	0	0	0	0	0.0004	0	0	0.147	0.30656	T	0.746	0.13832	T	0.9	0.49598	P	0.272	0.39956	B	0.004468	0.33710	N	0.283940	0.824745	0.34828	D	1.89	0.50145	L	3.01	0.10871	T	-0.58	0.20791	N	0.098	0.08088	-1.0628	0.11069	T	0.033	0.13986	T	10	0.07620707	0.11875	T	0.01253	0.31184	T	0.074	0.21613	.	.	0.559923220125	0.55653	0.23624498813528982	0.23539	0.022813631958	0.02307	0.348242104053	0.17662	T	0.002677	0.09523	T	-0.36609	0.03797	T	-0.445567	0.28186	T	0.0576817849455271	0.06799	T	0.828517	0.49290	T	0.098250434	0.23172	0.10952739	0.26399	0.098250434	0.23172	0.10952739	0.26399	-2.91	0.09726	T	.	.	0.068	0.04975	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.957760	0.39377	20.9	0.99205875230648011	0.55442	0.65239	0.32671	D	AEFDGBHCI	0.472284	0.51747	N	0.0588897243893696	0.44552	2.727195	0.210374177806954	0.50423	3.234433	0.999999999613544	0.74766	0.658043	0.49183	0	0.573888	0.26702	0	0.659943	0.59835	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	2.849000	0.47985	3.455000	0.38473	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.934000	0.47231	0.0:0.0:1.0:0.0	16.283	0.82530	891	0.26808	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6290.83	34	chr2	205047664	.	G	A	6290.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.213;DP=2185;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=0.802;SOR=0.647	GT:AD:DP:GQ:PL	0/1:144,127:271:99:2996,0,3635	17	0	2	0
chr2	206304824	206304824	A	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A296T:p.D99V,ZDBF2:NM_001369654:exon6:c.A296T:p.D99V,ZDBF2:NM_001285549:exon7:c.A290T:p.D97V	.	427	1082	12	1	0	14	0.00642792	.	.	.	2982334	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.059	0.00150610793014	0.0009	0.00139776	0.0018	0	0.0011	0	0	0.0015	0.0022	0.0062	0.0016365	253	154602	rs149317779	0.0013	0.0013	0.0011	0.0015	0.0106	0.0013	0.0013	0.0085	0.0077	8.963e-05	0.0011	3.828e-05	2.519e-05	3.745e-05	0.0106	0.0010	0.0015	0.0075	0.0011	0.0011	0.0011	0.0010	0.0052	0.0009	0.0009	0.0036	0.0031	0.0003	0.0099	0.0012	0.0006	0	0	0.0102	0.0012	0.0033	0.0052	0.085	0.32769	T	0.033	0.53072	D	0.652	0.40767	P	0.113	0.31689	B	0.010663	0.01282	N	3.311150	1	0.08975	N	0.69	0.16971	N	2.29	0.17113	T	-1.64	0.39314	N	0.211	0.23506	-1.0246	0.22214	T	0.026	0.10954	T	10	0.005754322	0.00128	T	0.001506	0.02318	T	0.059	0.16972	.	.	0.209622950755	0.20551	0.039830665300983996	0.03929	0.341368232332	0.36070	0.259487062693	0.04830	T	0.01732	0.29940	T	-0.543983	0.00317	T	-0.550445	0.17284	T	0.0346557185982412	0.02749	T	.	.	.	0.10526064	0.24887	0.046848074	0.06619	0.10526064	0.24887	0.046848074	0.06618	-3.595	0.17785	T	.	.	0.111	0.26010	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.468404	0.08381	5.134	0.75972991080953822	0.11283	0.36710	0.25596	N	AEFBI	0.045790	0.07529	N	-0.832117958751698	0.12494	0.6093761	-0.974997277389136	0.10348	0.5206438	0.0099870363551659	0.11946	0.615465	0.37627	0	0.653731	0.59785	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	1.49	1.49	0.21966	-0.250000	0.08849	0.101000	0.14649	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.009000	0.08673	1.0:0.0:0.0:0.0	4.968	0.13450	885	0.28214	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.009567	0.015152	0.008152	0.005848	0.100000	0.034483	0.006098	0.003788	0.02632	1619.33	34	chr2	206304824	.	A	T	1619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.284;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.029;SOR=0.684	GT:AD:DP:GQ:PL	0/1:49,65:114:99:1633,0,1214	18	0	1	0
chr2	210648034	210648034	C	T	exonic	CPS1	.	nonsynonymous SNV	CPS1:NM_001875:exon26:c.C3313T:p.P1105S,CPS1:NM_001122633:exon27:c.C3313T:p.P1105S,CPS1:NM_001369256:exon27:c.C3346T:p.P1116S,CPS1:NM_001369257:exon28:c.C3313T:p.P1105S	Carbamoylphosphate synthetase I deficiency, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	883654	Congenital_hyperammonemia,_type_I|CPS1-related_disorder|not_provided	MONDO:MONDO:0009376,MedGen:C4082171,OMIM:237300,Orphanet:147|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.494	0.0964869829126	.	.	0.0001	0	0	0	0	1.5e-05	0	0.0007	8.41e-05	13	154602	rs761921978	5.678e-05	5.678e-05	4.22e-05	7.151e-05	0.0010	4.677e-05	4.302e-05	0.0006	0.0006	0	0	0	0	0	0.0010	4.497e-06	6.624e-05	0.0008	1.314e-05	1.313e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.471e-05	0	0.0002	0.528	0.07093	T	0.643	0.07059	T	0.238	0.30817	B	0.126	0.32692	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.605	0.40863	L	-4.37	0.97343	D	-0.63	0.28084	N	0.712	0.71498	0.839	0.94896	D	0.885	0.96185	D	10	0.37321413	0.53635	T	0.096487	0.76611	D	0.494	0.77973	0.34	0.33141	0.955078305994	0.95460	0.8493174372997226	0.84893	0.786206304104	0.65525	0.758834838867	0.75756	T	0.584738	0.86456	D	0.0662238	0.60386	T	0.240566	0.85174	D	0.154851795547265	0.17483	T	0.915508	0.69822	D	0.29826957	0.52748	0.21811399	0.46503	0.29826957	0.52748	0.21811399	0.46502	-7.069	0.54537	T	0.21552923449718284	0.28978	0.253	0.49018	B	.;.;.	.;.;.	3.403815	0.47185	22.4	0.97141732595482599	0.32547	0.98567	0.84178	D	AEFBI	0.938033	0.93663	D	0.275486991549162	0.54909	3.655521	0.410444951496737	0.62213	4.43322	0.99999998392425	0.74766	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	5.86	5.86	0.93936	5.809000	0.68843	7.703000	0.66393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.188	0.98226	398	0.82839	.;Carbamoyl-phosphate synthetase large subunit-like, ATP-binding domain|ATP-grasp fold;.	.	.	.	.	.	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	0.002020	0.000000	0.002725	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	1692.83	34	chr2	210648034	.	C	T	1692.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.033;DP=737;ExcessHet=0.119;FS=0.657;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=-0.389;SOR=0.628	GT:AD:DP:GQ:PL	0/1:47,35:82:99:856,0,1244	17	0	2	0
chr2	216043924	216043924	G	A	exonic	PECR	.	nonsynonymous SNV	PECR:NM_018441:exon7:c.C806T:p.T269I	.	.	.	.	.	.	.	.	.	.	.	2763327	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.169	0.0214577859428	0.0002	.	0.0001	0	0	0	0	3.022e-05	0	0.0007	8.41e-05	13	154602	rs374888148	4.988e-05	5.269e-05	3.589e-05	6.395e-05	0.0005	4.043e-05	3.715e-05	0.0004	0.0003	0	0	0	0	0	0.0003	2.191e-05	6.695e-05	0.0005	5.257e-05	5.254e-05	5.138e-05	5.381e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.996e-05	0	0	6.549e-05	0	0	0	0	4.409e-05	0.0005	0.0006	0.198	0.20532	T	0.189	0.28575	T	0.003	0.11197	B	0.005	0.11217	B	0.616062	0.10821	N	0.845034	1	0.08975	N	1.845	0.48678	L	-1.73	0.83327	D	-2.05	0.47008	N	0.092	0.07125	-0.8577	0.51427	T	0.321	0.69021	T	10	0.0356566	0.01824	T	0.021458	0.44231	T	0.169	0.43123	.	.	0.746778594565	0.74449	0.5648703444711348	0.56414	0.0559469541111	0.06180	0.32763877511	0.14578	T	0.178852	0.52964	T	-0.314326	0.07372	T	-0.339852	0.40362	T	0.0255997052929348	0.01352	T	0.418758	0.11073	T	0.10692721	0.25284	0.11378268	0.27462	0.10692721	0.25284	0.11378268	0.27461	-3.976	0.23443	T	.	.	0.149	0.32851	B	.	.	-1.464895	0.00316	0.005	0.87199753251639323	0.17058	0.02666	0.07285	N	AEFBI	0.147629	0.27134	N	-1.13707311442394	0.05995	0.2748361	-1.19320304059096	0.06022	0.2886694	0.103770566601848	0.16456	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.668105	0.65232	0	.	.	5.55	-1.62	0.07926	-2.997000	0.00718	-3.918000	0.02453	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2076:0.1919:0.6005	10.569	0.44382	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	.	.	.	.	.	.	.	.	0.02632	1178.33	35	chr2	216043924	.	G	A	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.454;DP=788;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.7;ReadPosRankSum=1.46;SOR=0.741	GT:AD:DP:GQ:PL	0/1:93,60:153:99:1192,0,2250	18	0	1	0
chr2	218454943	218454943	C	T	exonic	USP37	.	nonsynonymous SNV	USP37:NM_020935:exon26:c.G2927A:p.R976H	.	436	1040	45	1	0	47	0.0220969	.	.	.	719611	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.111	.	0.0047	0.00319489	0.0053	0.0010	0.0049	0	0.0074	0.0066	0.0155	0.0050	0.005097	788	154602	rs61752208	0.0057	0.0057	0.0056	0.0058	0.0097	0.0056	0.0056	0.0077	0.0069	0.0008	0.0047	0.0041	7.557e-05	0.0068	0.0097	0.0061	0.0053	0.0055	0.0049	0.0049	0.0046	0.0051	0.0101	0.0046	0.0045	0.0088	0.0083	0.0011	0	0.0101	0.0037	0.0004	0.0064	0.0136	0.0062	0.0057	0.0046	0.08	0.33585	T	0.052	0.47581	T	0.902	0.56973	P	0.277	0.50479	B	0.004459	0.33730	N	0.291939	0.999948	0.19238	N	.	.	.	0.79	0.50976	T	-1.49	0.36586	N	0.175	0.22228	-0.9968	0.30810	T	0.073	0.29707	T	10	0.0056904554	0.00126	T	.	.	.	0.111	0.31313	.	.	0.484561410422	0.48089	0.12187288382234782	0.12114	0.538746203884	0.51126	0.2870631814	0.08496	T	0.005326	0.04771	T	-0.424174	0.01609	T	-0.378347	0.35915	T	0.0147221900276854	0.00307	T	0.759724	0.38410	T	0.037994392	0.04977	0.048039705	0.07052	0.037994392	0.04976	0.048039705	0.07051	-3.702	0.22677	T	.	.	0.125	0.26357	B	.;.;.;.	.;.;.;.	2.669803	0.34803	19.73	0.99799431956377838	0.88461	0.71741	0.35144	D	AEFGBI	0.103271	0.20695	N	-0.129099176258609	0.36129	2.084232	-0.134383631516921	0.34015	1.951945	0.968379357749628	0.29047	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	3.83	0.43287	1.329000	0.33375	2.260000	0.31754	-0.176000	0.10722	0.766000	0.29311	0.983000	0.30585	0.482000	0.28611	0.0:0.8616:0.0:0.1384	11.873	0.51812	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	0	0	1	0	0.005539	0.000000	0.006793	0.005848	0.000000	0.000000	0.009146	0.003788	0.02632	952.33	42	chr2	218454943	.	C	T	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.95;DP=779;ExcessHet=0;FS=0.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.061;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,37:64:99:0|1:218454934_A_G:966,0,613:218454934	18	0	1	0
chr2	218672858	218672858	T	A	exonic	STK36	.	nonsynonymous SNV	STK36:NM_001243313:exon2:c.T29A:p.I10N,STK36:NM_001369423:exon2:c.T29A:p.I10N,STK36:NM_015690:exon2:c.T29A:p.I10N	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.326092110099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.998	0.88582	D	0.000314	0.45977	D	0.000000	1	0.81001	D	3.895	0.96086	H	1.3	0.86815	T	-5.97	0.90490	D	0.793	0.81758	0.885	0.95471	D	0.835	0.94468	D	10	0.95840204	0.95222	D	0.326092	0.91617	D	0.510	0.78971	0.906	0.98027	0.961027252966	0.96060	0.7955228741977718	0.79505	0.948607816731	0.72518	0.804933309555	0.82715	D	0.498986	0.82019	T	0.266605	0.80134	D	0.145183	0.79878	D	0.99826568365097	0.93671	D	0.959004	0.96179	D	0.90188146	0.91552	0.89716303	0.94774	0.90188146	0.91553	0.89716303	0.94775	-18.516	0.99701	D	.	.	0.977	0.92114	P	.;.;.;.	.;.;.;.	5.348258	0.89719	31	0.99399495218679856	0.62748	0.93684	0.58897	D	AEFGBHC	0.690105	0.65055	D	0.850688466887884	0.89145	9.85345	0.797998279026903	0.89654	10.065	0.999999998026639	0.74766	0.542737	0.22433	0	0.587265	0.34161	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	5.84	5.84	0.93373	4.913000	0.63039	7.735000	0.67855	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.216	0.82037	845	0.36510	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase, ATP binding site|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	.	.	.	.	.	.	.	.	0.02632	1625.33	34	chr2	218672858	.	T	A	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.321;DP=764;ExcessHet=0;FS=0.653;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=0.951;SOR=0.602	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1639,0,1406	18	0	1	0
chr2	219182444	219182446	GAA	-	exonic	RETREG2	.	nonframeshift deletion	RETREG2:NM_001321109:exon9:c.826_828del:p.E278del,RETREG2:NM_001321110:exon9:c.721_723del:p.E243del,RETREG2:NM_024293:exon9:c.1447_1449del:p.E485del	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0046	.	8.238e-05	0.0010	0	0	0	0	0	0	6.47e-05	10	154602	rs370732354	3.626e-05	3.625e-05	3.539e-05	3.713e-05	0.0012	2.828e-05	2.565e-05	0.0009	0.0008	0.0012	4.472e-05	0	0	0	0	0	0.0002	0	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1461.29	52	chr2	219182443	.	GGAA	G	1461.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.196;DP=933;ExcessHet=0;FS=6.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.88;ReadPosRankSum=-1.709;SOR=1.177	GT:AD:DP:GQ:PL	0/1:53,39:92:99:1475,0,2067	18	0	1	0
chr2	219218298	219218298	C	-	exonic	ABCB6	.	frameshift deletion	ABCB6:NM_001349828:exon1:c.376delG:p.V126Sfs*78,ABCB6:NM_005689:exon1:c.376delG:p.V126Sfs*124	Dyschromatosis universalis hereditaria 3, Autosomal dominant;Microphthalmia, isolated, with coloboma 7, Autosomal dominant;Pseudohyperkalemia, familial, 2, due to red cell leak, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	1019575	not_provided|ABCB6-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0003	.	0.0001	0.0014	0	0	0	0	0	0	3.84e-05	1	26028	rs377591749	4.587e-05	4.583e-05	4.632e-05	4.541e-05	0.0016	3.664e-05	3.35e-05	0.0013	0.0011	0.0016	6.708e-05	0	0	0	0	0	0.0002	0	0.0003	0.0003	0.0002	0.0004	0.0011	0.0002	0.0002	0.0008	0.0007	0.0011	0	6.533e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2507.29	37	chr2	219218297	.	AC	A	2507.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.27;DP=843;ExcessHet=0;FS=4.688;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=-0.896;SOR=1.061	GT:AD:DP:GQ:PL	0/1:84,74:158:99:2521,0,2915	18	0	1	0
chr2	219549197	219549197	G	A	exonic	TMEM198	.	nonsynonymous SNV	TMEM198:NM_001005209:exon4:c.G788A:p.R263Q,TMEM198:NM_001303098:exon5:c.G788A:p.R263Q	.	414	1107	1	0	0	1	0.000451467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	0.0044	0.00519169	0.0013	0.0138	0.0006	0	0	0.0001	0	6.058e-05	0.0013001	201	154602	rs144974523	0.0004	0.0004	0.0005	0.0004	0.0139	0.0004	0.0004	0.0128	0.0124	0.0139	0.0008	3.826e-05	0	0	0.0009	4.496e-05	0.0008	4.638e-05	0.0040	0.0040	0.0039	0.0041	0.0140	0.0038	0.0037	0.0131	0.0127	0.0140	0	0.0013	0	0	0	0	4.41e-05	0.0038	0	0.039	0.42487	D	0.123	0.35582	T	0.989	0.62824	D	0.398	0.44426	B	0.009398	0.30383	N	0.298390	0.880629	0.28055	N	2.165	0.60562	M	.	.	.	-2.72	0.57920	D	0.401	0.44187	-1.0724	0.08894	T	0.024	0.10239	T	9	0.00884372	0.00200	T	.	.	.	0.098	0.28162	.	.	0.367992661779	0.36405	0.7759420193178419	0.77544	0.437078892741	0.43779	0.627881705761	0.56845	T	0.044141	0.26724	T	-0.434494	0.01393	T	-0.38522	0.35110	T	0.0345451729127426	0.02730	T	0.938606	0.76932	D	0.16858517	0.37324	0.124482915	0.30003	0.16858517	0.37324	0.124482915	0.30003	-3.663	0.18773	T	.	.	0.156	0.35498	B	.;.	.;.	4.651889	0.74163	26.1	0.99888849973157734	0.96359	0.95667	0.65647	D	AEFBI	0.582666	0.58220	D	0.404731878040677	0.61682	4.372621	0.489426998673379	0.67287	5.063925	0.999993893281908	0.74766	0.634777	0.41761	0	0.627178	0.54094	0	0.643519	0.47002	0	0.63947	0.58350	0	.	.	5.48	4.59	0.56297	5.565000	0.67067	11.801000	0.96654	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2626:0.0:0.7374:0.0	5.811	0.17730	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	0.001511	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1342.33	34	chr2	219549197	.	G	A	1342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=764;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.294;SOR=0.625	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1356,0,1181	18	0	1	0
chr2	219566965	219566965	C	T	exonic	OBSL1	.	nonsynonymous SNV	OBSL1:NM_001173408:exon5:c.G1999A:p.A667T,OBSL1:NM_001173431:exon5:c.G1999A:p.A667T,OBSL1:NM_015311:exon5:c.G1999A:p.A667T	3-M syndrome 2	0	1521	1	0	0	1	0.000328623	.	.	.	697355	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.009	.	0.0038	0.00419329	0.0011	0.0128	0.0007	0	0	4.54e-05	0	0	0.0010996	170	154602	rs141057611	0.0004	0.0004	0.0005	0.0004	0.0136	0.0004	0.0004	0.0126	0.0122	0.0136	0.0007	3.826e-05	0	0	0.0005	6.116e-05	0.0009	2.319e-05	0.0038	0.0038	0.0037	0.0038	0.0129	0.0035	0.0034	0.0120	0.0117	0.0129	0	0.0016	0	0	0	0	2.94e-05	0.0038	0	0.009	0.57480	D	0.062	0.51421	T	0.114	0.28960	B	0.135	0.39904	B	.	.	.	.	0.981252	0.25199	N	1.245	0.31408	L	1.13	0.38556	T	-0.78	0.21644	N	0.163	0.26957	-0.9849	0.33856	T	0.073	0.29419	T	9	0.007147908	0.00162	T	.	.	.	0.009	0.00846	.	.	0.220303561663	0.21668	0.4330655427152288	0.43223	0.174836253178	0.19684	0.318722516298	0.13228	T	0.014514	0.12343	T	-0.549722	0.00293	T	-0.551383	0.17194	T	0.0133907157261565	0.00242	T	0.890911	0.62511	D	0.08476337	0.19634	0.118859	0.28690	0.08434723	0.19519	0.09731925	0.23159	-3.932	0.25438	T	.	.	0.068	0.12276	B	.;.;.;.;.	.;.;.;.;.	2.924411	0.38829	20.8	0.99702257536190242	0.80729	0.87036	0.46457	D	AEFBCI	0.257711	0.37639	N	-0.286541052417816	0.29667	1.647261	-0.1652954221724	0.32822	1.871294	0.997502843205149	0.35692	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.579976	0.35079	0	.	.	5.05	3.19	0.35720	0.755000	0.26070	1.895000	0.29544	0.596000	0.33519	0.951000	0.33123	0.952000	0.29052	0.862000	0.40904	0.1805:0.6456:0.1739:0.0	8.124	0.30149	115	0.95340	Immunoglobulin subtype;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	0	0	1	0	0.001511	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1772.33	33	chr2	219566965	.	C	T	1772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.398;DP=829;ExcessHet=0;FS=4.35;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.495;SOR=0.401	GT:AD:DP:GQ:PL	0/1:57,70:127:99:1786,0,1615	18	0	1	0
chr2	225582978	225582978	G	A	exonic	NYAP2	.	nonsynonymous SNV	NYAP2:NM_020864:exon4:c.G1561A:p.G521S,NYAP2:NM_001371273:exon5:c.G1561A:p.G521S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.116999605156	0.0007	0.00119808	0.0005	0.0062	0.0003	0	0	1.639e-05	0	0	0.0004075	63	154602	rs201097764	0.0001	0.0001	0.0002	0.0001	0.0051	0.0001	0.0001	0.0045	0.0043	0.0051	0.0002	0	0	0	0.0003	5.398e-06	0.0003	0	0.0014	0.0014	0.0013	0.0015	0.0050	0.0013	0.0012	0.0044	0.0042	0.0050	0	0.0006	0	0	0	0	0	0.0009	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	0.999998	0.81001	D	2.045	0.56016	M	-1.12	0.77593	T	-5.71	0.87457	D	0.871	0.86833	0.218	0.86222	D	0.615	0.86401	D	10	0.025979102	0.00776	T	0.117	0.79664	D	0.529	0.80128	.	.	0.427607127396	0.42382	0.3897268440950617	0.38887	1.08672446178	0.77311	0.77806520462	0.78637	T	0.228715	0.59434	T	0.0512422	0.58502	T	0.302334	0.88305	D	0.133943220210659	0.15741	T	0.885811	0.61165	D	0.8908619	0.90582	0.84096456	0.90902	0.8908619	0.90583	0.84096456	0.90902	-8.104	0.61778	D	.	.	0.561	0.67272	A	.;.	.;.	5.159114	0.86435	28.9	0.99799567407167078	0.88461	0.99806	0.99590	D	AEFI	0.948151	0.95947	D	0.606209510603926	0.73568	5.987236	0.509483105902731	0.68628	5.246209	0.999999965459307	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	5.63	0.86108	9.602000	0.97623	11.744000	0.95258	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.460000	0.28118	0.0:0.0:1.0:0.0	19.710	0.96085	692	0.58729	Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, C-terminal domain;Neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter, C-terminal 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	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1071.33	35	chr2	225582978	.	G	A	1071.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.25;DP=786;ExcessHet=0;FS=2.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.99;ReadPosRankSum=-0.481;SOR=1.029	GT:AD:DP:GQ:PL	0/1:29,38:67:99:1085,0,695	18	0	1	0
chr2	229231960	229231960	C	G	exonic	PID1	.	nonsynonymous SNV	PID1:NM_001330156:exon1:c.G95C:p.R32P	.	434	1081	7	0	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.000864691568323	.	0.00279553	0.0038	0.0011	0.0068	0	0	0.0071	0.0065	0.0020	0.0006145	95	154602	rs540348737	0.0033	0.0032	0.0033	0.0034	0.0065	0.0033	0.0032	0.0048	0.0045	0.0005	0.0053	0.0104	0	0.0006	0.0065	0.0035	0.0042	0.0013	0.0031	0.0031	0.0033	0.0029	0.0078	0.0029	0.0028	0.0066	0.0062	0.0007	0	0.0078	0.0089	0	0.0003	0.0068	0.0039	0.0100	0.0006	0.123	0.27544	T	0.264	0.22761	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.36	0.13035	N	0.144	0.14480	-1.0300	0.20454	T	0.055	0.23300	T	6	0.0064780414	0.00147	T	8.65E-4	0.00755	T	0.102	0.29158	.	.	0.0806252709748	0.07271	0.66059101479111	0.65996	.	.	.	.	.	0.030096	0.21412	T	-0.524812	0.00412	T	-0.525542	0.19735	T	0.000870357677529826	0.00008	T	0.357964	0.08163	T	0.14444602	0.33156	0.13237602	0.31767	0.14444602	0.33155	0.13237602	0.31766	-3.517	0.16671	T	.	.	0.217	0.44630	B	.	.	-0.503672	0.01855	0.150	0.6524991073089258	0.07720	0.00785	0.03216	N	AEFBI	0.092815	0.18786	N	-0.971765390163869	0.09211	0.4349701	-1.10014220486402	0.07698	0.3754756	0.00366813902409609	0.10226	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.928	0.928	0.18569	-0.298000	0.08302	-1.985000	0.04389	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	5.156	0.14363	922	0.19044	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1728.33	35	chr2	229231960	.	C	G	1728.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.968;DP=790;ExcessHet=0;FS=3.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.71;ReadPosRankSum=0.58;SOR=1.073	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,47:110:99:0|1:229231959_G_T:1742,0,2488:229231959	18	0	1	0
chr2	231460727	231460727	-	TCG	exonic	NCL	.	nonframeshift insertion	NCL:NM_005381:exon4:c.752_753insCGA:p.D250_E251insD	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.12e-05	9.623e-05	0	0	0	5.997e-05	0	0	3.23e-05	5	154602	rs752861959	5.893e-05	5.884e-05	5.728e-05	6.059e-05	7.208e-05	4.884e-05	4.503e-05	5.896e-05	5.461e-05	2.993e-05	0	0	0	0	0	7.208e-05	8.29e-05	0	3.943e-05	3.939e-05	3.857e-05	4.032e-05	0.0002	1.715e-05	1.129e-05	2.847e-05	1.859e-05	0	0	0	0	0.0002	0	0	7.354e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1416.29	33	chr2	231460727	.	T	TTCG	1416.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.753;DP=761;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.46;ReadPosRankSum=0.601;SOR=0.98	GT:AD:DP:GQ:PL	0/1:29,37:66:99:1430,0,1067	18	0	1	0
chr2	238334015	238334015	G	A	exonic	TRAF3IP1	.	nonsynonymous SNV	TRAF3IP1:NM_001139490:exon7:c.G1043A:p.R348Q,TRAF3IP1:NM_015650:exon7:c.G1043A:p.R348Q	Senior-Loken syndrome 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1041251	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00943345299379	7.7e-05	.	4.025e-05	0.0001	0.0002	0	0	1.925e-05	0	0	3.23e-05	5	154602	rs369516358	4.25e-05	4.446e-05	4.5e-05	3.998e-05	0.0002	3.384e-05	3.071e-05	2.918e-05	2.593e-05	0	4.506e-05	0	0	0	0.0002	3.873e-05	0.0002	5.83e-05	3.964e-05	3.951e-05	5.16e-05	2.709e-05	7.361e-05	1.723e-05	1.135e-05	2.85e-05	1.861e-05	2.429e-05	0	0	0	0	0	0	7.361e-05	0	0	0.161	0.48186	T	0.277	0.39799	T	0.645	0.41705	P	0.115	0.31843	B	0.074526	0.21278	N	0.454048	0.999995	0.29226	N	2.745	0.80253	M	1.88	0.23884	T	-1.15	0.36385	N	0.137	0.20528	-1.0423	0.16621	T	0.044	0.18742	T	10	0.11669126	0.22019	T	0.009433	0.24716	T	0.030	0.07022	.	.	0.259272394797	0.25527	0.2923548752615567	0.29148	0.243943641455	0.26902	0.274120688438	0.06685	T	0.017628	0.14352	T	-0.348759	0.04806	T	-0.541102	0.18187	T	0.050478754731825	0.05584	T	0.813219	0.46599	T	0.05906707	0.11959	0.054012485	0.09208	0.05906707	0.11959	0.054012485	0.09207	-4.376	0.29230	T	0.2980234112649496	0.39519	0.090	0.12560	B	.;.	.;.	2.437080	0.31360	18.72	0.96738773693853652	0.30917	0.28576	0.23592	N	AEFBI	0.047431	0.07987	N	-0.508267761092406	0.21813	1.160295	-0.610264065290543	0.19229	1.030776	0.10131473491642	0.16374	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.55	1.59	0.22622	0.747000	0.25956	3.255000	0.37052	0.618000	0.50648	0.589000	0.27658	0.998000	0.33993	0.726000	0.34967	0.1879:0.0:0.643:0.1691	4.758	0.12469	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	.	.	.	.	.	.	.	.	0.02632	822.33	35	chr2	238334015	.	G	A	822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.823;DP=687;ExcessHet=0;FS=2.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.95;ReadPosRankSum=0.359;SOR=0.899	GT:AD:DP:GQ:PL	0/1:23,32:55:99:836,0,508	18	0	1	0
chr2	239102883	239102883	C	T	exonic	HDAC4	.	nonsynonymous SNV	HDAC4:NM_001378414:exon16:c.G2126A:p.R709H,HDAC4:NM_001378415:exon16:c.G2126A:p.R709H,HDAC4:NM_001378416:exon16:c.G2111A:p.R704H,HDAC4:NM_001378417:exon16:c.G2111A:p.R704H,HDAC4:NM_006037:exon16:c.G2111A:p.R704H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.810	0.315076119279	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384258636	7.526e-06	7.524e-06	4.084e-06	1.1e-05	2.519e-05	4.04e-06	2.95e-06	3.85e-06	2.24e-06	0	0	0	2.519e-05	0	0	7.194e-06	0	2.319e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.01	0.86067	M	-0.59	0.71543	T	-4.76	0.80340	D	0.842	0.84609	0.644	0.92465	D	0.672	0.88620	D	10	0.89939004	0.89297	D	0.315076	0.91304	D	0.810	0.93854	0.71	0.84601	0.918591304824	0.91776	0.854970157755187	0.85460	2.12076249528	0.95014	0.79033613205	0.80494	T	0.90116	0.98062	D	0.38989	0.89318	D	0.322273	0.89184	D	0.999520659446716	0.97759	D	0.995613	0.98457	D	0.92185384	0.93427	0.7833337	0.87232	0.92185384	0.93428	0.7833337	0.87233	-16.06	0.97849	D	0.9651329704172128	0.98878	0.495	0.72332	A	.;.	.;.	5.341512	0.89624	31	0.99955249080484909	0.99969	0.98110	0.79682	D	AEFBI	.	.	.	0.925300192107407	0.92943	11.72352	0.817827200965968	0.91002	10.67208	0.999999999999946	0.74766	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.77	4.77	0.60425	7.539000	0.80984	7.531000	0.59918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	18.172	0.89680	808	0.43318	Histone deacetylase domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	964.33	33	chr2	239102883	.	C	T	964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.795;DP=718;ExcessHet=0;FS=4.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=0.803;SOR=0.371	GT:AD:DP:GQ:PL	0/1:44,43:87:99:978,0,1023	18	0	1	0
chr2	241096105	241096105	C	G	exonic	MTERF4	.	nonsynonymous SNV	MTERF4:NM_001330179:exon3:c.G475C:p.D159H,MTERF4:NM_182501:exon4:c.G1039C:p.D347H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0296055265371	7.7e-05	0.000798722	0.0006	0	8.649e-05	0.0017	0	1.499e-05	0	0.0037	0.0005563	86	154602	rs114751344	0.0003	0.0003	0.0003	0.0004	0.0039	0.0003	0.0003	0.0034	0.0033	0	4.473e-05	0	0.0039	0	0	7.196e-06	0.0003	0.0037	0.0001	0.0001	5.146e-05	0.0002	0.0039	9.751e-05	8.264e-05	0.0026	0.0021	0	0	0	0	0.0006	0	0	0	0	0.0039	0.029	0.54683	D	0.001	0.83351	D	0.789	0.44570	P	0.175	0.35598	B	.	.	.	.	1	0.21728	N	.	.	.	4.26	0.71662	T	-0.84	0.33598	N	0.165	0.22486	-1.0366	0.18357	T	0.092	0.35228	T	9	0.0040772557	0.00080	T	0.029606	0.52085	D	0.047	0.12962	.	.	0.251639045875	0.24756	0.09380180060682339	0.09312	0.187972154103	0.21122	0.268482208252	0.05944	T	0.158358	0.50134	T	-0.434789	0.01388	T	-0.398477	0.33560	T	0.0188786489436765	0.00598	T	0.333767	0.07077	T	0.104964055	0.24816	0.069946215	0.14801	0.104964055	0.24816	0.069946215	0.14800	-9.362	0.69997	D	.	.	0.167	0.39915	B	.;.;.	.;.;.	0.217757	0.06006	2.446	0.8752562802428866	0.17290	0.36364	0.25516	N	AEFDGBHCI	0.157767	0.28333	N	-0.822531985262485	0.12735	0.6227009	-0.933022795112395	0.11318	0.5758507	0.999999946853676	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	2.01	2.01	0.25568	0.186000	0.16787	-0.047000	0.12595	0.200000	0.17917	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:1.0:0.0:0.0	7.299	0.25583	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4466.81	34	chr2	241096105	.	C	G	4466.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.09;SOR=0.902	GT:AD:DP:GQ:PL	1/1:0,135:135:99:4494,405,0	18	1	0	0
chr2	241872723	241872723	A	-	exonic	RTP5	.	frameshift deletion	RTP5:NM_173821:exon2:c.1168delA:p.K390Rfs*93	.	365	1152	5	0	0	5	0.00216544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.00139776	0.0013	0	0	0	0	0.0005	0.0012	0.0088	0.0011061	171	154602	rs530164671	0.0007	0.0007	0.0004	0.0009	0.0081	0.0006	0.0006	0.0076	0.0074	3.04e-05	2.342e-05	0.0042	0	0	0.0007	0.0001	0.0010	0.0081	0.0004	0.0004	0.0003	0.0005	0.0072	0.0003	0.0003	0.0054	0.0047	0	0	0	0.0037	0	9.418e-05	0	0.0001	0	0.0072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.05263	5558.77	35	chr2	241872722	.	GA	G	5558.77	.	AC=2;AF=0.053;AN=38;DP=862;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.69;SOR=0.761	GT:AD:DP:GQ:PL	1/1:0,151:151:99:5586,454,0	18	1	0	0
chr3	14514356	14514356	C	T	exonic	GRIP2	.	nonsynonymous SNV	GRIP2:NM_001080423:exon12:c.G1429A:p.A477T	.	422	1042	55	3	0	61	0.0284382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0069	0.00678914	0.0209	0.0032	0.0079	0	0.0361	0.0183	0.0125	0.0372	0.0076972	1190	154602	rs61731933	0.0084	0.0084	0.0075	0.0093	0.0336	0.0083	0.0082	0.0325	0.0321	0.0019	0.0026	0.0082	7.976e-05	0.0106	0.0125	0.0072	0.0070	0.0336	0.0070	0.0070	0.0064	0.0077	0.0310	0.0067	0.0065	0.0268	0.0252	0.0025	0	0.0021	0.0071	0	0.0137	0.0103	0.0088	0.0063	0.0310	.	.	.	0.015	0.63109	D	0.973	0.57599	D	0.866	0.61580	P	.	.	.	.	.	.	.	1.7	0.43825	L	.	.	.	.	.	.	0.451	0.48872	.	.	.	.	.	.	.	0.008893639	0.00201	T	.	.	.	.	.	.	.	.	.	0.4809170231000565	0.48011	.	.	0.710757851601	0.68703	T	0.046215	0.27356	T	-0.15527	0.27491	T	0.0278743	0.72140	D	.	.	.	0.920008	0.71084	D	0.14574614	0.33396	0.41954938	0.65945	0.14574614	0.33396	0.41954938	0.65945	-9.597	0.71461	D	.	.	0.149	0.32851	B	.;.;.	.;.;.	3.997254	0.58871	24.0	0.9309622440940325	0.22722	0.95255	0.64015	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999994724982313	0.74766	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.058706	0.01089	0	0.76698	0.45436	4.73	3.86	0.43689	5.798000	0.68751	3.899000	0.40339	0.549000	0.26987	1.000000	0.71638	0.999000	0.35428	0.997000	0.79791	0.0:0.921:0.0:0.079	13.007	0.58115	894	0.26265	PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain	GRIP2|GRIP2|GRIP2|GRIP2|GRIP2	Artery_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Spleen	.	.	.	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	0.014170	0.000000	0.016393	0.014620	0.000000	0.017544	0.021472	0.011450	0.02632	856.33	42	chr3	14514356	.	C	T	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.943;DP=815;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=-0.726;SOR=0.659	GT:AD:DP:GQ:PL	0/1:44,41:85:99:870,0,1060	18	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	.	.	.	.	.	.	.	.	0.2895	3183.21	214	chr3	15003967	.	C	G	3183.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.939;DP=3774;ExcessHet=8.9063;FS=188.233;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.07;SOR=13.139	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,38:182:99:0|1:15003967_C_G:112,0,4598:15003967	8	0	11	0
chr3	16294937	16294937	A	T	exonic	OXNAD1	.	nonsynonymous SNV	OXNAD1:NM_001330670:exon6:c.A426T:p.R142S,OXNAD1:NM_001330671:exon6:c.A426T:p.R142S,OXNAD1:NM_001352977:exon6:c.A372T:p.R124S,OXNAD1:NM_001352978:exon6:c.A372T:p.R124S,OXNAD1:NM_138381:exon6:c.A372T:p.R124S,OXNAD1:NM_001352980:exon7:c.A291T:p.R97S,OXNAD1:NM_001352981:exon7:c.A291T:p.R97S,OXNAD1:NM_001352982:exon7:c.A291T:p.R97S,OXNAD1:NM_001352983:exon7:c.A291T:p.R97S	.	418	1103	1	0	0	1	0.000453104	.	.	.	2272932	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	0.00241671552332	.	.	0.0001	0	0	0.0001	0	0	0	0.0009	0.0001035	16	154602	rs764566338	6.022e-05	6.156e-05	2.723e-05	9.354e-05	0.0009	4.963e-05	4.628e-05	0.0008	0.0007	0	6.715e-05	0	2.52e-05	0	0.0002	0	4.97e-05	0.0009	1.314e-05	1.313e-05	0	2.688e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.541e-05	0	0	0	0	0	0	0.0002	0.572	0.06145	T	0.754	0.04737	T	0.067	0.23653	B	0.009	0.14300	B	0.000000	0.84330	D	0.090873	0.996089	0.23119	N	0.52	0.13579	N	2.61	0.13095	T	0.23	0.04613	N	0.225	0.33578	-1.0028	0.29109	T	0.019	0.08033	T	10	0.022970736	0.00588	T	0.002417	0.04757	T	0.098	0.28162	0.576	0.70087	0.101711395817	0.09552	0.6918358670062897	0.69123	0.038674952326	0.04113	0.347437143326	0.17544	T	0.009712	0.08820	T	-0.5075	0.00519	T	-0.583548	0.14228	T	0.0155535317709466	0.00353	T	0.877412	0.59112	D	0.21078953	0.43385	0.111589745	0.26918	0.21078953	0.43385	0.111589745	0.26917	-4.704	0.33453	T	.	.	0.227	0.52801	B	.;.;.;.;.	.;.;.;.;.	1.705408	0.21718	15.32	0.92225717771724525	0.21600	0.07738	0.13738	N	AEFBI	0.104818	0.20962	N	-0.838937862109993	0.12323	0.5999876	-0.832796710499222	0.13702	0.7122295	0.999888717152083	0.44867	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.65	-3.14	0.04928	0.020000	0.13359	1.478000	0.26801	0.756000	0.94297	0.007000	0.17678	0.217000	0.23687	0.998000	0.85391	0.5334:0.0:0.3541:0.1125	6.958	0.23764	766	0.49742	FAD-binding domain, ferredoxin reductase-type;FAD-binding domain, ferredoxin reductase-type;FAD-binding domain, ferredoxin reductase-type;FAD-binding domain, ferredoxin reductase-type;FAD-binding domain, ferredoxin reductase-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	960.33	33	chr3	16294937	.	A	T	960.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.498;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.462;SOR=0.637	GT:AD:DP:GQ:PL	0/1:38,45:83:99:974,0,863	18	0	1	0
chr3	19456808	19456808	C	A	exonic	KCNH8	.	nonsynonymous SNV	KCNH8:NM_144633:exon11:c.C1866A:p.D622E	.	.	.	.	.	.	.	.	.	.	.	2394120	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.347	0.0291930260323	0.0002	.	7.454e-05	9.671e-05	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs370658355	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	2.993e-05	0	3.834e-05	0	0	0	0.0003	0.0001	0	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.312e-05	0.0002	0.0001	0.0001	0	6.638e-05	0	0	0	0	0.0003	0	0	0.527	0.07093	T	0.445	0.13140	T	0.106	0.26037	B	0.123	0.32463	B	0.006029	0.32324	U	0.000000	0.999989	0.54805	D	0.85	0.21244	L	-4.09	0.96627	D	-1.27	0.31981	N	0.108	0.09349	0.062	0.83472	D	0.707	0.89907	D	9	0.13689443	0.26044	T	0.029193	0.51750	D	0.347	0.66863	0.453	0.51612	0.83933164562	0.83779	0.5141464190917435	0.51337	0.906771272957	0.70874	0.689732313156	0.65668	T	0.390099	0.75036	T	-0.195007	0.21528	T	-0.225742	0.52182	T	0.0440843515098095	0.04435	T	0.881012	0.60027	D	0.07973278	0.18231	0.07571912	0.16697	0.07973278	0.18231	0.07571912	0.16697	-3.451	0.15752	T	.	.	0.237	0.47128	B	.	.	2.565101	0.33231	19.28	0.94943798959183934	0.25843	0.91700	0.54078	D	AEFBI	0.490666	0.52805	N	-0.104227822526102	0.37208	2.161477	0.0858864505747462	0.43835	2.67731	2.07347416839392E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.58	4.48	0.53973	0.592000	0.23685	1.121000	0.24244	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.0:0.7623:0.0:0.2377	7.104	0.24533	752	0.51611	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-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	.	.	.	.	.	.	.	.	0.02632	1492.33	33	chr3	19456808	.	C	A	1492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.508;DP=762;ExcessHet=0;FS=1.431;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=0.284;SOR=0.538	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1506,0,1663	18	0	1	0
chr3	19934017	19934017	A	G	exonic	EFHB	.	startloss	EFHB:NM_144715:exon1:c.T2C:p.M1?	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00208510187702	.	.	1.663e-05	0	0	0	0	0	0	9.183e-05	6.5e-06	1	154602	rs752578107	1.04e-05	1.026e-05	8.258e-06	1.257e-05	1.187e-05	6.24e-06	4.95e-06	6.58e-06	5.07e-06	0	0	0	0	0	0	1.18e-05	1.674e-05	1.187e-05	2.63e-05	2.627e-05	2.571e-05	2.693e-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	0.009	0.57480	D	0.055	0.46862	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	-0.25	0.11008	N	0.154	0.15888	-0.9896	0.32702	T	0.026	0.11264	T	7	0.7163359	0.73370	D	0.002085	0.03828	T	0.132	0.35948	0.975	0.99766	0.337621943819	0.33374	0.03494500523616043	0.03441	.	.	.	.	.	5.04E-4	0.00188	T	-0.255594	0.13420	T	-0.497263	0.22632	T	0.0652627096321007	0.07970	T	0.9	0.65058	D	0.20606768	0.42769	0.25390738	0.51047	0.20606768	0.42769	0.25390738	0.51046	-8.462	0.64177	D	.	.	.	.	.	.	.	0.212666	0.05959	2.400	0.71189516632782479	0.09545	0.03865	0.09226	N	AEFBCI	0.014043	0.00209	N	-1.02812597129047	0.08023	0.3747725	-1.11800568608056	0.07356	0.3575036	0.999949024532734	0.47345	0.446893	0.09132	0	0.547309	0.14657	0	0.043771	0.00183	3	0.530356	0.10902	0	.	.	4.12	-1.22	0.09005	-0.356000	0.07711	0.135000	0.15097	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.4104:0.1902:0.2154:0.184	0.374	0.00358	760	0.50470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1242.33	40	chr3	19934017	.	A	G	1242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.62;ReadPosRankSum=-1.835;SOR=0.657	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1256,0,1171	18	0	1	0
chr3	33014213	33014213	C	T	exonic	GLB1	.	nonsynonymous SNV	GLB1:NM_001135602:exon12:c.G1184A:p.G395D,GLB1:NM_000404:exon15:c.G1577A:p.G526D,GLB1:NM_001079811:exon15:c.G1487A:p.G496D,GLB1:NM_001317040:exon16:c.G1721A:p.G574D	GM1-gangliosidosis, type I, Autosomal recessive;GM1-gangliosidosis, type II, Autosomal recessive;GM1-gangliosidosis, type III, Autosomal recessive;Mucopolysaccharidosis type IVB (Morquio), Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	YES	549547	not_provided|not_specified|Intellectual_disability|Mucopolysaccharidosis,_MPS-IV-B|GM1_gangliosidosis	MedGen:C3661900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MONDO:MONDO:0009660,MedGen:C0086652,OMIM:253010,Orphanet:309310,Orphanet:582|MONDO:MONDO:0018149,MedGen:C0085131,Orphanet:354	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.306	.	0.0033	0.00559105	0.0014	0.0142	0.0012	0	0	0.0002	0.0022	6.056e-05	0.0013454	208	154602	rs147332381	0.0005	0.0005	0.0005	0.0005	0.0142	0.0005	0.0005	0.0131	0.0127	0.0142	0.0011	0	0	0	0.0017	8.004e-05	0.0016	4.637e-05	0.0043	0.0044	0.0046	0.0040	0.0146	0.0041	0.0040	0.0136	0.0132	0.0146	0	0.0024	0	0	0	0	0.0002	0.0033	0.0002	0.516	0.16793	T	0.5	0.13066	T	0.002	0.09854	B	0.004	0.10090	B	0.907412	0.08577	N	0.955447	1	0.08975	N	.	.	.	-4.27	0.97172	D	-0.96	0.42575	N	0.093	0.10626	-0.0726	0.80720	T	0.683	0.89047	D	10	0.007707536	0.00175	T	.	.	.	0.306	0.62729	.	.	0.831870488214	0.83027	0.61000189406808	0.60932	0.308413385656	0.33155	0.224763512611	0.01603	T	.	.	.	-0.236177	0.15841	T	-0.0997048	0.63420	T	0.00359795940576702	0.00038	T	0.481352	0.14557	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.08948	B	.;.;.	.;.;.	0.147298	0.05401	1.878	0.43716210362941221	0.03310	0.10645	0.16093	N	AEFBI	0.295346	0.40548	N	-0.990815807878325	0.08799	0.4139605	-1.00218398060043	0.09737	0.4861903	0.66733488694449	0.22336	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.82	0.87	0.18239	-1.604000	0.02179	-3.481000	0.02754	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3728:0.2708:0.3564	5.114	0.14159	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	1	0	0.005040	0.005051	0.009511	0.005882	0.000000	0.000000	0.000000	0.000000	0.02632	1360.33	33	chr3	33014213	.	C	T	1360.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.148;DP=758;ExcessHet=0;FS=3.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.933;SOR=0.392	GT:AD:DP:GQ:PL	0/1:51,54:105:99:1374,0,1438	18	0	1	0
chr3	38274348	38274348	C	G	exonic	SLC22A13	.	nonsynonymous SNV	SLC22A13:NM_004256:exon2:c.C455G:p.T152S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.017359748494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0020	0.0003	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0003	2.238e-05	7.686e-05	5.053e-05	1.873e-05	0.0005	0.0004	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.105	0.38016	T	0.0	0.02946	B	0.002	0.06944	B	0.000041	0.55875	N	0.160393	0.99224	0.23913	N	-1.99	0.00200	N	-0.5	0.70480	T	0.9	0.01618	N	0.046	0.01825	-1.0462	0.15476	T	0.089	0.34160	T	10	0.14881968	0.28175	T	0.01736	0.39027	T	0.152	0.39956	0.69	0.82748	0.426436156839	0.42259	0.3084365791395323	0.30756	0.0676656924038	0.07564	0.273172974586	0.06559	T	0.075269	0.35137	T	-0.252894	0.13746	T	-0.601041	0.12725	T	0.420658379793167	0.29715	T	0.480552	0.14510	T	0.038479067	0.05134	0.06160156	0.11920	0.038479067	0.05134	0.06160156	0.11919	0.094	0.00317	T	.	.	0.106	0.19559	B	.	.	0.642485	0.10110	6.855	0.55694458031465099	0.05396	0.76760	0.37673	D	AEFBI	0.227826	0.35158	N	-1.16639776644557	0.05515	0.2516357	-1.01584251878332	0.09436	0.4694843	0.996808560441363	0.35023	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.07	4.2	0.48814	3.549000	0.53431	0.356000	0.17526	-0.187000	0.09635	0.924000	0.32081	0.000000	0.08366	0.064000	0.16252	0.0:0.8541:0.1459:0.0	14.714	0.68872	432	0.80690	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	.	.	.	.	.	.	.	.	0.02632	683.62	33	chr3	38274348	.	C	G	683.62	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.496;DP=1581;ExcessHet=0.7564;FS=190.832;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.52;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:158,52:213:99:.:.:697,0,5388:.	18	0	1	0
chr3	48409644	48409644	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon33:c.G5866A:p.D1956N,PLXNB1:NM_002673:exon33:c.G5866A:p.D1956N	.	427	1094	1	0	0	1	0.00045683	.	.	.	2310071	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.581	0.095496289903	.	.	0.0002	0	8.646e-05	0	0	3.006e-05	0.0011	0.0013	0.0001682	26	154602	rs769608602	0.0001	0.0001	8.032e-05	0.0002	0.0016	0.0001	0.0001	0.0014	0.0013	0	0	0	0	9.376e-05	0.0002	3.417e-05	6.623e-05	0.0016	6.572e-05	6.563e-05	3.857e-05	9.41e-05	0.0012	3.517e-05	2.617e-05	0.0005	0.0004	0	0	0	0	0	9.454e-05	0	4.411e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.36	0.91202	M	1.71	0.26737	T	-4.76	0.81595	D	0.782	0.80375	-0.3111	0.74674	T	0.243	0.61166	T	10	0.6671893	0.70497	D	0.095496	0.76439	D	0.581	0.83137	0.839	0.94541	0.755811135456	0.75359	0.7915033158034491	0.79102	1.45782429626	0.86289	0.736598908901	0.72473	T	0.427098	0.77668	T	-0.331072	0.06031	T	-0.288871	0.45891	T	0.691841125488281	0.40333	D	0.992801	0.97620	D	0.91506016	0.92771	0.8098945	0.88893	0.91506016	0.92772	0.8098945	0.88894	-11.163	0.80544	D	.	.	0.383	0.58611	A	.;.;.	.;.;.	4.434083	0.68789	25.3	0.99910613018148597	0.98022	0.95812	0.66259	D	AEFBCI	0.931295	0.91990	D	0.800353861664509	0.86126	8.787028	0.675394728910067	0.80513	7.315913	0.999999999490161	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.29	4.29	0.50359	7.770000	0.84193	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:1.0:0.0:0.0	15.723	0.77487	20	0.98525	Plexin, cytoplasmic RasGAP domain;Plexin, cytoplasmic RasGAP domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1387.33	36	chr3	48409644	.	C	T	1387.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.255;DP=840;ExcessHet=0;FS=0.714;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.66;ReadPosRankSum=2.47;SOR=0.618	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1401,0,1779	18	0	1	0
chr3	48562898	48562898	A	T	exonic	UCN2	.	nonsynonymous SNV	UCN2:NM_033199:exon2:c.T227A:p.L76Q	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0181540439958	.	.	0.0004	0	0.0003	0	0	5.691e-05	0	0.0019	0.0001682	26	154602	rs780430031	0.0001	0.0001	8.619e-05	0.0002	0.0017	0.0001	0.0001	0.0015	0.0014	0	0	0	0	9.527e-05	0.0002	4.151e-05	6.671e-05	0.0017	7.221e-05	7.217e-05	3.854e-05	0.0001	0.0012	3.967e-05	3.125e-05	0.0005	0.0004	0	0	6.536e-05	0	0	9.418e-05	0	4.41e-05	0	0.0012	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.008508	0.30805	N	0.000000	0.72086	0.33616	D	2.085	0.57729	M	.	.	.	-6.0	0.89534	D	0.863	0.85979	-0.3954	0.72172	T	0.241	0.60881	T	9	0.3478374	0.51710	T	0.018154	0.40116	T	0.345	0.66676	0.522	0.62518	0.144782658237	0.14088	0.1533732438109597	0.15259	0.135082931244	0.15230	0.661604642868	0.61639	T	0.502536	0.82238	D	0.078541	0.61868	D	0.304664	0.88411	D	0.320601016283035	0.25846	T	0.540046	0.18281	T	0.868934	0.88777	0.8614162	0.92276	0.868934	0.88778	0.8614162	0.92276	-4.607	0.32260	T	.	.	0.581	0.68090	P	.	.	4.157963	0.62416	24.5	0.99545064551715623	0.70773	0.73447	0.35927	D	AEFDBCI	0.546730	0.56071	D	0.48592430903905	0.66267	4.928213	0.485960968634569	0.67058	5.033589	0.999999999925732	0.74766	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	5.67	5.67	0.87673	2.695000	0.46710	10.949000	0.84388	0.756000	0.94297	0.996000	0.39380	1.000000	0.68203	0.760000	0.36145	1.0:0.0:0.0:0.0	13.646	0.61752	12	0.98946	Corticotropin-releasing factor	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1506.33	33	chr3	48562898	.	A	T	1506.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.437;DP=754;ExcessHet=0;FS=0.654;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.906;SOR=0.762	GT:AD:DP:GQ:PL	0/1:68,58:126:99:1520,0,1860	18	0	1	0
chr3	52648391	52648391	C	T	exonic	PBRM1	.	nonsynonymous SNV	PBRM1:NM_001350075:exon8:c.G766A:p.A256T,PBRM1:NM_018313:exon8:c.G766A:p.A256T,PBRM1:NM_001366070:exon9:c.G829A:p.A277T,PBRM1:NM_001366071:exon9:c.G829A:p.A277T,PBRM1:NM_001366072:exon9:c.G829A:p.A277T,PBRM1:NM_001366073:exon9:c.G820A:p.A274T,PBRM1:NM_001366075:exon9:c.G829A:p.A277T,PBRM1:NM_001366076:exon9:c.G820A:p.A274T,PBRM1:NM_181042:exon9:c.G766A:p.A256T,PBRM1:NM_001350074:exon10:c.G829A:p.A277T,PBRM1:NM_001350076:exon10:c.G829A:p.A277T,PBRM1:NM_001350078:exon10:c.G829A:p.A277T,PBRM1:NM_001350079:exon10:c.G829A:p.A277T,PBRM1:NM_001366074:exon10:c.G817A:p.A273T,PBRM1:NM_001350077:exon11:c.G820A:p.A274T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00400252632717	.	.	3.312e-05	0	0	0	0	6.028e-05	0	0	2.59e-05	4	154602	rs776146971	1.098e-05	1.3e-05	9.559e-06	1.241e-05	3.009e-05	6.5e-06	5.26e-06	5.77e-06	4.56e-06	3.009e-05	2.258e-05	0	0	3.75e-05	0	1.082e-05	0	0	2.631e-05	2.628e-05	3.857e-05	1.347e-05	4.411e-05	8.15e-06	5.14e-06	1.171e-05	6.25e-06	2.415e-05	0	0	0	0	0	0	4.411e-05	0	0	0.467	0.09458	T	0.666	0.07919	T	0.007	0.24602	B	0.003	0.18489	B	0.000022	0.55875	D	0.119017	0.998132	0.44547	D	0.08	0.08321	N	1.52	0.30669	T	0.21	0.07008	N	0.327	0.39356	-1.0632	0.10974	T	0.040	0.17149	T	10	0.1323168	0.25184	T	0.004003	0.09493	T	0.042	0.11227	.	.	0.366092821824	0.36220	0.5409107550760102	0.54016	1.22914692326	0.81295	0.68328666687	0.64741	T	0.053678	0.29509	T	-0.232433	0.16328	T	-0.463993	0.26165	T	0.163220437971818	0.18106	T	0.919208	0.70896	D	0.19662355	0.41497	0.1041738	0.25014	0.21445057	0.43851	0.11876101	0.28666	-2.58	0.06782	T	.	.	0.082	0.22753	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.389136	0.67717	25.1	0.99739162268311488	0.83337	0.91701	0.54080	D	AEFBI	0.220290	0.34506	N	-0.161673535968342	0.34739	1.986596	0.0846308261045587	0.43773	2.672342	0.999994980642627	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	2.431000	0.44433	5.929000	0.51288	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.9243:0.0:0.0757	12.719	0.56500	28	0.98252	.;.;Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain;.;.;.;.;.;Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain;Bromodomain|Bromodomain, conserved site|Bromodomain|Bromodomain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	636.33	36	chr3	52648391	.	C	T	636.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=704;ExcessHet=0;FS=1.885;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.67;ReadPosRankSum=0.351;SOR=0.949	GT:AD:DP:GQ:PL	0/1:53,30:83:99:650,0,1223	18	0	1	0
chr3	56571213	56571213	G	T	exonic	CCDC66	.	stopgain	CCDC66:NM_001353151:exon6:c.G748T:p.E250X,CCDC66:NM_001012506:exon7:c.G745T:p.E249X,CCDC66:NM_001141947:exon7:c.G847T:p.E283X,CCDC66:NM_001353147:exon7:c.G847T:p.E283X,CCDC66:NM_001353148:exon7:c.G847T:p.E283X,CCDC66:NM_001353149:exon7:c.G826T:p.E276X,CCDC66:NM_001353150:exon7:c.G847T:p.E283X,CCDC66:NM_001353153:exon7:c.G745T:p.E249X,CCDC66:NM_001353154:exon7:c.G847T:p.E283X,CCDC66:NM_001353155:exon7:c.G826T:p.E276X,CCDC66:NM_001353152:exon8:c.G745T:p.E249X	.	538	980	2	0	2	4	0.00101937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0004	0	0	0	0	0	0	0.0026	0.0003169	49	154602	rs556042658	0.0002	0.0002	0.0001	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0005	4.746e-06	0.0002	0.0026	5.918e-05	5.909e-05	2.573e-05	9.415e-05	0.0017	3.079e-05	2.212e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.472e-05	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	0.000416	0.44736	D	0.155094	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.175	0.18784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28699	0.81906	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.109017	0.98477	39	0.99644713402484164	0.76881	0.95355	0.64397	D	AEFBI	0.072082	0.14372	N	1.04590953694348	0.96992	15.43104	0.901071351247439	0.95620	13.79769	0.985190012484585	0.30843	0.651	0.46895	0	0.708844	0.79440	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.38	5.38	0.77279	4.409000	0.59524	7.344000	0.58262	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.664	0.88103	402	0.82617	.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	874.33	33	chr3	56571213	.	G	T	874.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.513;DP=734;ExcessHet=0;FS=1.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.925;SOR=0.892	GT:AD:DP:GQ:PL	0/1:60,42:102:99:888,0,1419	18	0	1	0
chr3	66380318	66380318	G	A	exonic	LRIG1	.	nonsynonymous SNV	LRIG1:NM_001377347:exon12:c.C2225T:p.T742I,LRIG1:NM_001377348:exon12:c.C2198T:p.T733I,LRIG1:NM_001377349:exon12:c.C1943T:p.T648I,LRIG1:NM_001377344:exon18:c.C3152T:p.T1051I,LRIG1:NM_001377345:exon19:c.C2447T:p.T816I,LRIG1:NM_001377346:exon19:c.C2447T:p.T816I,LRIG1:NM_015541:exon19:c.C3227T:p.T1076I	.	.	.	.	.	.	.	.	.	.	.	2782156	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.0215809198752	7.7e-05	.	1.648e-05	0	0	0	0	3e-05	0	0	1.29e-05	2	154602	rs376409463	1.573e-05	1.573e-05	1.361e-05	1.788e-05	0.0002	1.048e-05	8.75e-06	1.583e-05	9.3e-06	0	0	0	0	0	0.0002	1.619e-05	0	4.637e-05	3.942e-05	3.94e-05	3.853e-05	4.034e-05	8.819e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.02	0.53172	D	0.076	0.42614	T	0.261	0.39628	B	0.094	0.39460	B	0.052489	0.22889	N	0.354667	1	0.19363	N	1.95	0.52479	M	-0.08	0.63911	T	-1.24	0.31375	N	0.156	0.21056	-0.9595	0.39274	T	0.141	0.46128	T	10	0.081471354	0.13341	T	0.021581	0.44367	T	0.075	0.21907	.	.	0.326275561783	0.32232	0.19018966377551141	0.18936	0.129818777364	0.14634	0.306691706181	0.11407	T	0.122658	0.44648	T	-0.169091	0.25373	T	-0.38381	0.35275	T	0.0842351689934731	0.10519	T	.	.	.	0.03220721	0.03201	0.03628925	0.03045	0.03220721	0.03201	0.03628925	0.03044	-4.765	0.34180	T	.	.	0.217	0.54804	B	.;.	.;.	1.647456	0.21022	15.02	0.99022407626294506	0.50613	0.13342	0.17802	N	AEFBCI	0.059440	0.11227	N	-0.61739520200142	0.18421	0.9562696	-0.712039299021946	0.16662	0.8824356	0.987328285300392	0.31238	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.54	0.053	0.13618	0.243000	0.17880	2.073000	0.30453	0.676000	0.76740	0.008000	0.17931	0.946000	0.28899	0.077000	0.17074	0.0818:0.2777:0.4132:0.2272	3.887	0.08608	804	0.43891	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	35	chr3	66380318	.	G	A	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.072;DP=775;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.155;SOR=0.602	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1686,0,1853	18	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	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,63:164:99:0|1:75730450_C_T:2301,0,4017:75730450	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,8:77:93:.:.:93,0,2827:.	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,26:126:99:.:.:375,0,3964:.	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,39:131:99:.:.:1283,0,3048:.	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,37:134:99:0|1:75736920_C_A:1241,0,3959:75736920	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,36:135:99:0|1:75736920_C_A:1193,0,4039:75736920	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:101,44:145:99:882,0,2926	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:99,48:147:99:1017,0,3214	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,59:167:99:0|1:75737060_A_G:2109,0,4221:75737060	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,60:162:99:0|1:75737060_A_G:2212,0,4102:75737060	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,57:161:99:0|1:75737060_A_G:2080,0,4195:75737060	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,55:161:99:0|1:75737060_A_G:1990,0,4285:75737060	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,48:148:99:0|1:75737060_A_G:1714,0,4054:75737060	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,28:111:99:0|1:75737060_A_G:926,0,3370:75737060	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,6:81:11:.:.:11,0,3101:.	7	0	12	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,108:186:99:.:.:4105,0,2755:.	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,106:201:99:0|1:75737590_A_G:4066,0,3655:75737590	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,109:214:99:0|1:75737590_A_G:4261,0,4081:75737590	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,114:223:99:0|1:75737590_A_G:4459,0,4234:75737590	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,118:232:99:0|1:75737590_A_G:4612,0,4432:75737590	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,112:222:99:0|1:75737590_A_G:4372,0,4282:75737590	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,66:185:99:0|1:75737814_C_T:2373,0,4594:75737814	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,23:154:99:0|1:75737881_T_C:509,0,5277:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,17:152:99:0|1:75737881_T_C:304,0,5591:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,16:152:99:0|1:75737881_T_C:262,0,5599:75737881	1	0	18	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	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,26:207:99:0|1:75737994_T_C:547,0,7457:75737994	7	0	12	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	.	.	.	.	.	.	.	.	0.2778	4997.0	314	chr3	75738053	.	C	A	4997.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-0.883;DP=3830;ExcessHet=6.9875;FS=5.735;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=57.27;MQRankSum=-11.01;QD=2.36;ReadPosRankSum=-1.823;SOR=1.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,21:192:99:0|1:75737994_T_C:367,0,7117:75737994	8	0	10	1
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:81,17:98:99:258,0,2457	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:51,26:77:99:472,0,1407	1	0	18	0
chr3	81499127	81499127	G	A	exonic	GBE1	.	nonsynonymous SNV	GBE1:NM_000158:exon15:c.C2035T:p.R679C	Glycogen storage disease IV, Autosomal recessive;Polyglucosan body disease, adult form, Autosomal recessive	0	1514	8	0	0	8	0.00263505	.	.	.	296321	not_provided|Adult_polyglucosan_body_disease|Glycogen_storage_disease,_type_IV|Glycogen_storage_disease_IV,_classic_hepatic	MedGen:C3661900|MONDO:MONDO:0009897,MedGen:C1849722,OMIM:263570,Orphanet:206583|MONDO:MONDO:0009292,MedGen:C0017923,OMIM:232500,Orphanet:367|MedGen:C1856301	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.453	0.0894280177662	.	0.00119808	0.0012	0	0.0006	0.0006	0	0.0001	0.0017	0.0068	0.0006856	106	154602	rs202158511	0.0004	0.0004	0.0003	0.0005	0.0040	0.0004	0.0004	0.0036	0.0035	3.028e-05	0.0002	0	2.536e-05	0	0.0005	0.0002	0.0004	0.0040	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	0	0	0.0003	0	0.0002	0	0	0.0002	0	0.0027	0.03	0.46129	D	0.059	0.45961	T	0.562	0.38380	P	0.495	0.47504	P	0.000042	0.53742	D	0.126798	0.999864	0.50061	D	2.915	0.84231	M	-1.26	0.79176	T	-5.77	0.87911	D	0.393	0.43417	-0.1894	0.77943	T	0.446	0.78197	T	10	0.011604905	0.00253	T	0.089428	0.75325	D	0.453	0.75279	.	.	0.856832758723	0.85544	0.693656659411994	0.69305	0.0542229240898	0.05990	0.359625995159	0.19331	T	0.831275	0.95974	D	-0.259618	0.12945	T	-0.145981	0.59598	T	0.237512204736352	0.22304	T	0.827017	0.49049	T	0.5143306	0.67932	0.3563095	0.61144	0.61440486	0.73465	0.34849802	0.60488	-10.366	0.76074	D	0.2623384385643773	0.35405	0.275	0.50844	B	.;.	.;.	4.936856	0.81443	27.5	0.99835171130951428	0.91628	0.90042	0.50915	D	AEFBI	0.592344	0.58809	D	0.17694476689029	0.50094	3.202732	0.152404689326532	0.47269	2.959721	0.986760971866417	0.31121	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.35	4.46	0.53567	4.304000	0.58899	4.996000	0.46562	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0886:0.0:0.7469:0.1645	7.372	0.25978	721	0.55360	Alpha-amylase/branching enzyme, C-terminal all beta;Alpha-amylase/branching enzyme, C-terminal all 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	.	.	.	.	.	.	.	.	0.02632	1094.33	35	chr3	81499127	.	G	A	1094.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.931;DP=718;ExcessHet=0;FS=6.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.957;SOR=1.42	GT:AD:DP:GQ:PL	0/1:52,43:95:99:1108,0,1274	18	0	1	0
chr3	89472553	89472553	A	C	exonic	EPHA3	.	nonsynonymous SNV	EPHA3:NM_005233:exon16:c.A2780C:p.H927P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.0459662479236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.038	0.51421	D	0.0	0.02946	B	0.0	0.01387	B	0.000004	0.62929	D	0.110120	0.993949	0.81001	D	-1.24	0.00794	N	-1.97	0.85173	D	-1.82	0.42763	N	0.181	0.19593	-0.6791	0.61414	T	0.259	0.62923	T	9	0.22624686	0.39474	T	0.045966	0.62234	D	0.294	0.61388	0.547	0.66156	0.911386941356	0.91049	0.41040694425895624	0.40956	0.297816076613	0.32164	0.310654461384	0.12005	T	0.144454	0.48109	T	-0.0500153	0.44444	T	-0.30962	0.43700	T	0.651855945587158	0.38542	D	0.683732	0.29211	T	0.21071462	0.43376	0.35867807	0.61340	0.21071462	0.43376	0.35867807	0.61339	-5.179	0.38728	T	.	.	0.050	0.00154	B	.	.	2.016366	0.25620	16.83	0.97401860959024944	0.33775	0.87150	0.46603	D	AEFI	0.643950	0.62038	D	-0.235687848594159	0.31680	1.778736	0.0361765120442768	0.41409	2.487242	0.0471258400803688	0.14717	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	4.296000	0.58852	.	.	-0.053000	0.16966	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.8551:0.1449:0.0:0.0	11.941	0.52188	574	0.70151	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2410.33	34	chr3	89472553	.	A	C	2410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.131;DP=1320;ExcessHet=0;FS=9.501;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.692;SOR=0.269	GT:AD:DP:GQ:PL	0/1:52,93:145:99:2424,0,1872	18	0	1	0
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	487.75	41	chr3	98133455	.	GACCCC	G	487.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.825;DP=1767;ExcessHet=0.3672;FS=79.695;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.63;ReadPosRankSum=0.637;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,17:89:99:.:.:172,0,2687:.	16	0	3	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3550.9	41	chr3	98133456	.	ACCCC	*	3550.9	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.085;DP=1915;ExcessHet=4.0268;FS=132.409;InbreedingCoeff=-0.2667;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=3.91;ReadPosRankSum=1.07;SOR=10.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,17:89:99:.:.:172,0,2687:.	16	0	3	0
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	412.34	59	chr3	98133457	.	C	*	412.34	.	AC=8;AF=0.364;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=11;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,17:89:99:.:.:172,0,2687:.	3	0	8	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	378.48	59	chr3	98133459	.	C	*	378.48	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.973;DP=1809;ExcessHet=4.0268;FS=142.708;InbreedingCoeff=-0.4616;MLEAC=10;MLEAF=0.455;MQ=59.99;MQRankSum=0;QD=0.44;ReadPosRankSum=2.4;SOR=10.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,17:85:99:0|1:98133458_C_T:348,0,2385:98133458	4	0	7	8
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4817.21	59	chr3	98133460	.	C	CGGGGG	4817.21	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=4;MLEAF=0.167;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,17:85:99:.:.:348,0,2385:.	9	0	3	7
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,15:41:56:.:.:56,0,304:.	7	0	11	1
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:80,29:119:20:20,0,1495	4	0	13	2
chr3	127618065	127618065	C	T	exonic	MCM2	.	nonsynonymous SNV	MCM2:NM_004526:exon12:c.C1997T:p.T666I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0177443855341	.	.	8.303e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs756055737	6.841e-07	6.84e-07	1.361e-06	0	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.232	0.24987	T	0.024	0.19075	B	0.072	0.28043	B	0.000000	0.84330	D	0.089532	1	0.81001	D	1.19	0.30124	L	2.91	0.10008	T	-3.58	0.69118	D	0.29	0.32812	-1.0250	0.22083	T	0.023	0.09787	T	10	0.25601768	0.43001	T	0.017744	0.39556	T	0.076	0.22200	0.463	0.53242	0.324009150485	0.32011	0.5500861612313266	0.54934	0.418664140437	0.42450	0.686828136444	0.65250	T	0.228398	0.59394	T	-0.13856	0.30118	T	-0.436808	0.29166	T	0.799621939659119	0.46327	D	0.981402	0.93712	D	0.5258457	0.68594	0.28101942	0.54081	0.5258457	0.68595	0.28101942	0.54080	-5.545	0.42287	T	0.1323630103709916	0.14105	0.227	0.45883	B	.	.	2.701168	0.35283	19.86	0.99119794836226027	0.52958	0.94606	0.61715	D	AEFDGBHCI	0.645905	0.62163	D	-0.0854221917332155	0.38030	2.221326	0.0833257873600572	0.43709	2.667192	0.999999999988794	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.83	4.93	0.64394	4.698000	0.61475	3.276000	0.37195	0.549000	0.26987	1.000000	0.71638	0.998000	0.33993	0.855000	0.40485	0.0:0.9177:0.0:0.0823	12.880	0.57404	883	0.28872	MCM domain|MCM domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1672.33	34	chr3	127618065	.	C	T	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.587;DP=789;ExcessHet=0;FS=0.608;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.38;ReadPosRankSum=1.5;SOR=0.627	GT:AD:DP:GQ:PL	0/1:76,71:147:99:1686,0,1917	18	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,20:67:99:.:.:246,0,913:.	3	0	16	0
chr3	128976995	128976995	C	T	exonic	CFAP92	.	nonsynonymous SNV	CFAP92:NM_001348520:exon5:c.G7A:p.D3N,CFAP92:NM_001348523:exon5:c.G544A:p.D182N,CFAP92:NM_001348521:exon6:c.G7A:p.D3N,CFAP92:NM_020741:exon6:c.G880A:p.D294N,CFAP92:NM_001348522:exon7:c.G544A:p.D182N	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00586150795439	8.3e-05	0.000199681	0.0005	0	0	0	0	0.0002	0	0.0033	0.0004334	67	154602	rs368155872	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0003	0.0033	0.0032	5.976e-05	0	0	0.0002	0	0.0005	7.917e-05	0.0003	0.0037	0.0002	0.0002	0.0002	0.0002	0.0025	0.0001	0.0001	0.0014	0.0011	4.813e-05	0	0	0	0	0	0	0.0002	0	0.0025	0.009	0.58626	D	0.033	0.53426	D	1.0	0.90584	D	0.889	0.63100	P	0.012237	0.29245	N	0.159885	1	0.08975	N	0.895	0.22405	L	.	.	.	-2.07	0.47344	N	0.165	0.17416	-1.0556	0.12882	T	0.108	0.39246	T	9	0.0072848797	0.00166	T	0.005862	0.15251	T	0.186	0.46104	.	.	0.0611884634855	0.05136	0.02086658751259671	0.02039	0.606121699755	0.55470	0.336169153452	0.15864	T	0.019784	0.15694	T	-0.612042	0.00123	T	-0.653089	0.08739	T	0.0800929932141362	0.09999	T	0.626737	0.24270	T	0.11398242	0.26914	0.08103384	0.18381	0.11398242	0.26913	0.08103384	0.18380	-3.675	0.19112	T	.	.	0.104	0.22609	B	.;.;.;.	.;.;.;.	3.137981	0.42432	21.5	0.99655472667420431	0.77568	0.18441	0.20261	N	AEFBI	0.114375	0.22530	N	-0.0665516235493234	0.38867	2.283013	-0.226826353503049	0.30578	1.722954	2.73897709760963E-4	0.06300	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.63	3.63	0.40741	2.910000	0.48464	3.831000	0.39996	0.549000	0.26987	0.196000	0.24261	0.944000	0.28851	0.003000	0.05239	0.0:1.0:0.0:0.0	11.102	0.47400	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	0.001009	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	906.33	36	chr3	128976995	.	C	T	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.251;DP=756;ExcessHet=0;FS=0.752;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.97;ReadPosRankSum=-0.223;SOR=0.843	GT:AD:DP:GQ:PL	0/1:57,44:101:99:920,0,1354	18	0	1	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	.	.	.	.	.	.	.	.	0.1875	5712.42	63	chr3	130421335	.	G	A	5712.42	.	AC=6;AF=0.188;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,27:66:99:0|1:130421335_G_A:564,0,952:130421335	10	0	6	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,25:66:99:0|1:130421335_G_A:283,0,991:130421335	3	0	13	3
chr3	130426383	130426383	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon31:c.G5216C:p.R1739P,COL6A5:NM_153264:exon31:c.G5216C:p.R1739P	.	0	225	1	0	0	1	0.00221729	.	.	.	3657384	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.434	0.0586823569898	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs748298425	2.216e-05	2.121e-05	7.052e-06	3.768e-05	0.0004	1.588e-05	1.384e-05	0.0003	0.0002	0	0	0	0	0	0	2.781e-06	0	0.0004	1.974e-05	1.97e-05	3.856e-05	0	0.0002	5.25e-06	2.46e-06	.	.	0	0	6.563e-05	0	0	0	0	1.47e-05	0	0.0002	0.016	0.51853	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.999981	0.18198	N	.	.	.	-2.5	0.89219	D	-1.41	0.34795	N	0.521	0.55106	-0.5574	0.66503	T	0.491	0.80648	T	9	0.16502017	0.30857	T	0.058682	0.67403	D	0.434	0.73951	0.475	0.55182	0.226586394389	0.22295	0.9175539045798963	0.91730	0.0693334402013	0.07761	0.210284054279	0.00824	T	0.028097	0.20428	T	-0.174308	0.24587	T	-0.198015	0.54835	T	0.0477731833670029	0.05103	T	0.631037	0.24617	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.52630	B	.	.	1.734593	0.22072	15.47	0.89334638407644573	0.18708	0.04185	0.09687	N	AEFBI	0.220285	0.34506	N	-1.20160443873227	0.04977	0.2258303	-1.19512107019841	0.05991	0.2870464	0.0191775038044251	0.13136	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.95	-0.252	0.12357	0.109000	0.15252	0.983000	0.23138	-0.961000	0.01979	0.001000	0.13787	0.026000	0.21063	0.237000	0.22922	0.7394:0.0:0.2606:0.0	8.575	0.32755	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	.	.	.	.	.	.	.	.	0.02632	1565.33	36	chr3	130426383	.	G	C	1565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.285;DP=803;ExcessHet=0;FS=3.235;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.857;SOR=0.452	GT:AD:DP:GQ:PL	0/1:58,68:126:99:1579,0,1379	18	0	1	0
chr3	134029726	134029726	G	A	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon1:c.C77T:p.S26L	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	720195	not_provided|SLCO2A1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.123	0.196217567825	0.0025	0.000399361	0.0042	0.0006	0.0028	0	0.0082	0.0067	0	0.0004	0.0018952	293	154602	rs201797879	0.0041	0.0040	0.0041	0.0040	0.0048	0.0040	0.0039	0.0047	0.0047	0.0005	0.0012	0.0001	0	0.0030	0.0013	0.0048	0.0040	0.0006	0.0027	0.0027	0.0028	0.0027	0.0051	0.0025	0.0024	0.0047	0.0045	0.0006	0.0011	0.0010	0	0	0.0017	0	0.0051	0.0014	0.0004	0.036	0.43393	D	0.016	0.60972	D	0.414	0.66517	B	0.062	0.49313	B	1.000000	0.07966	U	1.719030	0.999878	0.19925	N	0.55	0.14455	N	1.06	0.54149	T	-2.24	0.50175	N	0.317	0.43995	-1.0230	0.22736	T	0.105	0.38341	T	10	0.007827938	0.00178	T	0.196218	0.86466	D	0.123	0.34020	.	.	0.728633293707	0.72622	0.3192763800621531	0.31840	0.0953066022556	0.10761	0.711259007454	0.68776	T	0.205528	0.56461	T	-0.398498	0.02369	T	-0.340486	0.40289	T	0.0206827890633618	0.00768	T	0.832417	0.50060	T	0.094091475	0.22114	0.1427364	0.33947	0.074492924	0.16719	0.12384023	0.29856	-5.16	0.38533	T	0.2327777085538905	0.31507	0.187	0.40295	B	.;.	.;.	4.512297	0.70673	25.6	0.99717830681296304	0.81843	0.63582	0.32134	D	AEFDBCI	0.164066	0.29042	N	-0.310952779650803	0.28730	1.587168	-0.270338171797216	0.29081	1.62644	0.999670257315734	0.41644	0.65757	0.49021	0	0.563428	0.19063	0	0.606814	0.37721	0	0.604282	0.37693	0	.	.	3.02	3.02	0.33970	4.304000	0.58899	8.643000	0.77902	0.500000	0.22704	0.997000	0.40164	1.000000	0.68203	0.562000	0.30459	0.0:0.0:1.0:0.0	9.639	0.38993	883	0.28872	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	0	0	1	0	0.003579	0.000000	0.000000	0.002959	0.000000	0.000000	0.018987	0.003817	0.02632	810.33	42	chr3	134029726	.	G	A	810.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=718;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.663;SOR=0.88	GT:AD:DP:GQ:PL	0/1:38,35:73:99:824,0,828	18	0	1	0
chr3	155500718	155500718	C	G	exonic	PLCH1	.	nonsynonymous SNV	PLCH1:NM_001130960:exon13:c.G1745C:p.G582A,PLCH1:NM_001130961:exon13:c.G1745C:p.G582A,PLCH1:NM_001349250:exon13:c.G1745C:p.G582A,PLCH1:NM_001349251:exon14:c.G1781C:p.G594A,PLCH1:NM_001349252:exon14:c.G1781C:p.G594A,PLCH1:NM_014996:exon14:c.G1781C:p.G594A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00534239852325	.	.	1.648e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs746804352	6.174e-06	6.157e-06	6.828e-06	5.513e-06	0.0003	2.91e-06	2.1e-06	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	4.511e-06	3.32e-05	0	2.628e-05	2.627e-05	1.284e-05	4.034e-05	6.545e-05	8.14e-06	5.14e-06	.	.	0	0	6.545e-05	0	0	0	0.0032	1.47e-05	0.0005	0	0.275	0.16091	T	0.191	0.30729	T	0.0	0.14184	B	0.003	0.13708	B	0.118041	0.02700	N	1.721060	1	0.08975	N	0.14	0.08730	N	0.75	0.50192	T	-0.98	0.25986	N	0.068	0.04072	-1.0893	0.05650	T	0.064	0.26456	T	10	0.032283932	0.01377	T	0.005342	0.13679	T	0.095	0.27398	0.361	0.36548	0.379193981924	0.37526	0.17938455208870374	0.17857	0.395066701546	0.40657	0.271036565304	0.06277	T	0.03164	0.22134	T	-0.33766	0.05552	T	-0.707316	0.05434	T	0.0239643100649118	0.01140	T	0.832317	0.50011	T	0.038020458	0.04986	0.035317596	0.02761	0.038020458	0.04986	0.035317596	0.02761	-4.052	0.31305	T	.	.	0.061	0.01960	B	.;.;.;.;.	.;.;.;.;.	0.940600	0.13162	9.664	0.90007701868867385	0.19298	0.00632	0.02776	N	AEFI	0.043776	0.06962	N	-1.02799265233753	0.08026	0.3749044	-0.988948139952505	0.10033	0.5027881	0.688395554444937	0.22560	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.66	-0.428	0.11693	-0.111000	0.10778	0.365000	0.17616	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.644000	0.32530	0.289:0.2391:0.3192:0.1528	1.496	0.02317	742	0.52873	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1172.33	33	chr3	155500718	.	C	G	1172.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=717;ExcessHet=0;FS=3.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=0.681;SOR=1.09	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1186,0,993	18	0	1	0
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	.	.	.	.	.	.	.	.	0.2778	5341.98	127	chr3	155853645	.	G	C	5341.98	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.876;DP=2144;ExcessHet=11.1788;FS=271.216;InbreedingCoeff=-0.4797;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.75;ReadPosRankSum=1.48;SOR=12.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,28:121:99:.:.:590,0,2144:.	8	0	10	1
chr3	179250780	179250780	A	C	exonic	KCNMB3	.	nonsynonymous SNV	KCNMB3:NM_171830:exon1:c.T211G:p.L71V,KCNMB3:NM_001163677:exon2:c.T217G:p.L73V,KCNMB3:NM_014407:exon2:c.T223G:p.L75V,KCNMB3:NM_171828:exon2:c.T217G:p.L73V,KCNMB3:NM_171829:exon2:c.T157G:p.L53V	.	429	1039	54	0	0	54	0.0253283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	0.0019	0.0223642	0.0146	0.0008	0.0032	0.0395	0	0.0034	0.0077	0.0700	0.0129817	2007	154602	rs2276802	0.0072	0.0072	0.0051	0.0092	0.0684	0.0070	0.0070	0.0670	0.0664	0.0010	0.0031	0.0127	0.0326	9.36e-05	0.0218	0.0019	0.0093	0.0684	0.0053	0.0053	0.0040	0.0067	0.0642	0.0050	0.0049	0.0584	0.0561	0.0005	0	0.0055	0.0144	0.0357	0.0002	0.0102	0.0022	0.0038	0.0642	0.439	0.09291	T	0.738	0.08161	T	0.096	0.26519	B	0.038	0.31143	B	0.004138	0.34080	N	0.282759	0.617331	0.33807	D	1.295	0.32453	L	2.99	0.09262	T	-0.14	0.11366	N	0.059	0.07398	-0.9656	0.38092	T	0.004	0.01400	T	10	0.0046563745	0.00097	T	.	.	.	0.017	0.02790	.	.	.	.	0.4353581307616459	0.43452	0.226695250779	0.25215	0.263702362776	0.05340	T	0.001194	0.00692	T	-0.628976	0.00097	T	-0.625206	0.10781	T	0.00568234835327469	0.00062	T	0.693531	0.30321	T	0.03342323	0.03559	0.027471302	0.00903	0.03342323	0.03558	0.027471302	0.00903	-5.274	0.54223	T	.	.	0.122	0.27968	B	.;.;.;.;.	.;.;.;.;.	1.193052	0.15847	12.14	0.95592976965032206	0.27316	0.52621	0.29175	D	AEFBCI	0.095312	0.19259	N	-0.470201504834976	0.23062	1.235759	-0.326274033879087	0.27252	1.51095	0.999465146575166	0.39843	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.94	0.942	0.18648	0.476000	0.21890	0.513000	0.19097	0.658000	0.54486	0.997000	0.40164	0.896000	0.27899	0.989000	0.64315	0.6203:0.1436:0.2361:0.0	5.147	0.14320	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	0.023666	0.020202	0.014946	0.011696	0.000000	0.008621	0.018293	0.037879	0.05263	4400.83	37	chr3	179250780	.	A	C	4400.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.125;DP=970;ExcessHet=0.119;FS=1.799;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.246;SOR=0.814	GT:AD:DP:GQ:PL	0/1:87,93:180:99:2327,0,2233	17	0	2	0
chr3	180619889	180619889	C	T	exonic	CCDC39	.	nonsynonymous SNV	CCDC39:NM_181426:exon15:c.G2080A:p.A694T	Ciliary dyskinesia, primary, 14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.211736770405	.	.	6.739e-05	0	0	0	0	0.0001	0	0	4.53e-05	7	154602	rs769886847	1.097e-05	1.163e-05	1.228e-05	9.647e-06	2.996e-05	6.49e-06	5.26e-06	6.53e-06	5.03e-06	2.996e-05	0	0	0	0	0	1.171e-05	3.321e-05	0	6.621e-06	6.576e-06	0	1.357e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.006	0.61437	D	0.35	0.17478	T	0.995	0.67487	D	0.748	0.55971	P	.	.	.	.	0.999998	0.81001	D	2.955	0.85029	M	-1.11	0.77466	T	-3.57	0.68999	D	0.844	0.83987	0.044	0.83124	D	0.582	0.84951	D	9	0.62912256	0.68414	D	0.211737	0.87320	D	0.463	0.75956	0.138	0.04187	0.875609160862	0.87439	.	.	0.312588091171	0.33560	0.602254092693	0.53222	T	0.037273	0.24416	T	0.125118	0.66882	D	0.0983133	0.76796	D	0.984526872634888	0.75805	D	0.886911	0.61435	D	0.4268691	0.62547	0.42243674	0.66145	0.4268691	0.62547	0.42243674	0.66145	-6.02	0.46447	T	.	.	.	.	.	.	.	4.885100	0.80157	27.3	0.99831629277736733	0.91284	0.94310	0.60759	D	AEFDCIJ	0.716723	0.66847	D	0.708408311882753	0.80185	7.238	0.704977205559537	0.82756	7.846696	0.999999958022554	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.0	0.00009	3	.	.	5.55	5.55	0.83298	7.053000	0.76350	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.502	0.95088	601	0.67921	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	869.33	33	chr3	180619889	.	C	T	869.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=795;ExcessHet=0;FS=1.428;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.57;ReadPosRankSum=1.74;SOR=0.862	GT:AD:DP:GQ:PL	0/1:113,43:156:99:883,0,2800	18	0	1	0
chr3	182793775	182793775	C	G	exonic	ATP11B	.	nonsynonymous SNV	ATP11B:NM_014616:exon1:c.C16G:p.R6G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.701777313666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.232	0.60337	T	0.0	0.02946	B	0.002	0.06944	B	0.580442	0.11148	U	0.771658	0.623664	0.32728	D	0.205	0.09354	N	-0.04	0.63240	T	-0.28	0.12283	N	0.378	0.41952	-0.8376	0.52806	T	0.149	0.47610	T	10	0.31171894	0.48639	T	0.701777	0.97561	D	0.142	0.37995	0.489	0.57415	0.549535270781	0.54609	0.7679376743912163	0.76742	0.912256096767	0.71105	0.813529729843	0.84035	D	0.012888	0.11245	T	-0.0450043	0.45204	T	-0.302422	0.44468	T	0.341795367868593	0.26695	T	0.90351	0.66162	D	0.18420434	0.39724	0.24950436	0.50523	0.18420434	0.39724	0.24950436	0.50522	-6.541	0.50602	T	.	.	0.234	0.53868	B	.;.	.;.	3.374025	0.46641	22.3	0.95526334881634956	0.27153	0.28189	0.23485	N	ALL	0.168123	0.29485	N	-0.411459068503681	0.25066	1.358016	-0.297917934160479	0.28167	1.568346	0.99999999996481	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	3.08	3.08	0.34576	1.757000	0.38029	4.154000	0.42167	0.493000	0.22426	1.000000	0.71638	1.000000	0.68203	0.006000	0.07323	0.0:1.0:0.0:0.0	11.474	0.49531	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	479.33	36	chr3	182793775	.	C	G	479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.909;DP=669;ExcessHet=0;FS=4.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.787;SOR=1.043	GT:AD:DP:GQ:PL	0/1:26,20:46:99:493,0,629	18	0	1	0
chr3	184038574	184038574	C	T	exonic	HTR3D	.	nonsynonymous SNV	HTR3D:NM_182537:exon5:c.C560T:p.A187V,HTR3D:NM_001145143:exon7:c.C935T:p.A312V,HTR3D:NM_001163646:exon7:c.C1085T:p.A362V	.	.	.	.	.	.	.	.	.	.	.	2352599	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.130	0.0209482959164	0.0002	0.000199681	0.0001	0.0002	0.0003	0.0002	0	0.0002	0	0	0.0001423	22	154602	rs142947621	0.0001	0.0001	0.0001	0.0001	0.0009	9.671e-05	9.15e-05	0.0004	0.0002	0.0001	0.0003	0	2.519e-05	0	0.0009	9.622e-05	0.0004	3.478e-05	0.0003	0.0003	0.0002	0.0004	0.0013	0.0002	0.0002	0.0009	0.0007	0.0003	0	0.0013	0	0.0004	0	0	0.0001	0.0014	0	0.127	0.27080	T	0.198	0.27767	T	0.085	0.35504	B	0.031	0.27757	B	0.291438	0.14762	N	0.580121	1	0.08975	N	1.13	0.28900	L	-1.53	0.81559	D	-1.41	0.34795	N	0.219	0.24510	-0.9180	0.45824	T	0.190	0.54198	T	10	0.039667934	0.02475	T	0.020948	0.43640	T	0.130	0.35528	.	.	0.457013227636	0.45327	0.07014313585679094	0.06951	0.188820646202	0.21197	.	.	.	0.083153	0.36990	T	-0.370641	0.03561	T	-0.459658	0.26636	T	0.0116401920778675	0.00178	T	0.335166	0.07140	T	0.030236257	0.02652	0.03743916	0.03398	0.030236257	0.02652	0.03743916	0.03397	-4.727	0.33730	T	.	.	0.086	0.11269	B	.;.;.;.	.;.;.;.	-0.573072	0.01647	0.115	0.90894572669957996	0.20143	0.01392	0.04728	N	AEFBI	0.063203	0.12198	N	-1.1135960296552	0.06400	0.2945053	-1.20487993132839	0.05831	0.2789497	0.00948587090056548	0.11862	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.53	-2.29	0.06419	-1.758000	0.01908	-4.836000	0.01964	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.1685:0.2824:0.3314:0.2176	1.079	0.01537	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	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1256.33	68	chr3	184038574	.	C	T	1256.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=1034;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=1.26;QD=12.08;ReadPosRankSum=0.226;SOR=0.612	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1270,0,1427	18	0	1	0
chr3	186150150	186150150	C	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.G2241C:p.M747I,DGKG:NM_001080745:exon24:c.G2199C:p.M733I,DGKG:NM_001346:exon25:c.G2316C:p.M772I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0085120324625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.156e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.48186	D	0.119	0.37589	T	0.103	0.25884	B	0.034	0.25434	B	0.000053	0.53742	D	0.171825	0.594779	0.30990	N	1.23	0.30720	L	1.07	0.39586	T	-1.95	0.45222	N	0.261	0.35727	-0.8513	0.51878	T	0.122	0.42272	T	10	0.17578414	0.32528	T	0.008512	0.22507	T	0.123	0.34020	0.255	0.19533	0.533276065955	0.52977	0.1464589451172773	0.14567	0.117119508686	0.13201	0.534925818443	0.43728	T	0.116513	0.43590	T	-0.0731769	0.40820	T	-0.34289	0.40017	T	0.780353784561157	0.45072	D	0.923208	0.72041	D	0.3366612	0.56012	0.30383834	0.56414	0.3366612	0.56012	0.30383834	0.56413	-6.908	0.53358	T	.	.	0.370	0.59948	A	.;.;.	.;.;.	3.868216	0.56145	23.7	0.99043586559296637	0.51073	0.88944	0.49124	D	AEFBI	0.615783	0.60259	D	0.181705937295168	0.50321	3.223196	0.343357321105073	0.58108	3.979573	0.991815421124812	0.32618	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	5.19	0.71428	3.320000	0.51702	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9229:0.0:0.0771	12.944	0.57756	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	261.44	26	chr3	186150150	.	C	G	261.44	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-1.989;DP=527;ExcessHet=0.3672;FS=187.346;InbreedingCoeff=-0.2269;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=2.36;ReadPosRankSum=0.496;SOR=7.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,12:40:99:0|1:186150149_C_G:134,0,902:186150149	10	0	2	7
chr3	186150151	186150151	A	G	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon24:c.T2240C:p.M747T,DGKG:NM_001080745:exon24:c.T2198C:p.M733T,DGKG:NM_001346:exon25:c.T2315C:p.M772T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0148488252476	.	.	9.186e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs764536140	0	3.426e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.577e-06	6.569e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.025	0.47320	D	0.128	0.34959	T	0.945	0.53279	P	0.652	0.52532	P	0.000053	0.53742	D	0.171825	0.649523	0.30545	N	1.43	0.35840	L	1.05	0.42122	T	-3.04	0.62863	D	0.333	0.40665	-0.7914	0.55648	T	0.136	0.45068	T	10	0.20008764	0.36043	T	0.014849	0.35231	T	0.143	0.38195	.	.	0.672509336206	0.66973	0.306322739120449	0.30545	0.213405914334	0.23852	0.605171561241	0.53635	T	0.326708	0.69729	T	-0.0883631	0.38348	T	-0.182557	0.56287	T	0.235707968511018	0.22221	T	0.868613	0.57103	D	0.31741124	0.54420	0.39021182	0.63821	0.31741124	0.54420	0.39021182	0.63821	-8.677	0.67737	D	.	.	0.402	0.59694	A	.;.;.	.;.;.	4.251704	0.64538	24.7	0.9490986179220593	0.25771	0.83225	0.42360	D	AEFBI	0.477544	0.52049	N	0.334716964098364	0.57937	3.963371	0.433533912674598	0.63668	4.605017	0.945156828995575	0.27648	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.07	4.9	0.63643	4.150000	0.57871	7.078000	0.57462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9229:0.0:0.0771:0.0	10.270	0.42656	925	0.17918	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1154	268.55	26	chr3	186150151	.	A	G	268.55	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-1.712;DP=536;ExcessHet=0.3672;FS=156.254;InbreedingCoeff=-0.2123;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=2.42;ReadPosRankSum=1.24;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,12:40:99:0|1:186150149_C_G:134,0,902:186150149	10	0	3	6
chr3	195519078	195519078	C	T	exonic	PPP1R2	.	nonsynonymous SNV	PPP1R2:NM_001291505:exon4:c.G433A:p.D145N,PPP1R2:NM_001291504:exon5:c.G514A:p.D172N,PPP1R2:NM_006241:exon5:c.G511A:p.D171N,PPP1R2:NM_001316325:exon6:c.G451A:p.D151N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.00905860885421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.15823	T	0.179	0.29540	T	0.77	0.43887	P	0.636	0.51948	P	0.000001	0.62929	D	0.054903	1	0.81001	D	2.135	0.59519	M	.	.	.	-1.11	0.28703	N	0.392	0.43320	-0.7119	0.59859	T	0.290	0.66182	T	9	0.29898494	0.47453	T	0.009059	0.23845	T	0.127	0.34888	0.441	0.49648	0.527045900269	0.52351	0.20509771747031716	0.20426	.	.	0.424687385559	0.28481	T	0.108867	0.42226	T	-0.126186	0.32115	T	-0.419034	0.31186	T	0.923710107803345	0.58450	D	0.744526	0.36463	T	0.11809541	0.27830	0.12941259	0.31116	0.11809541	0.27830	0.12941259	0.31116	-6.385	0.49392	T	.	.	0.105	0.19398	B	.;.	.;.	3.559599	0.50079	22.9	0.99845862148642861	0.92576	0.95864	0.66482	D	AEFGBI	0.559613	0.56835	D	0.385958440756816	0.60660	4.257442	0.44069786671966	0.64120	4.660221	0.98695895552645	0.31157	0.706298	0.61202	0	0.724815	0.89359	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	4.568000	0.60573	5.956000	0.51737	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.824000	0.38829	0.0:1.0:0.0:0.0	16.936	0.86073	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	.	.	.	.	.	.	.	.	0.02632	109.85	35	chr3	195519078	.	C	T	109.85	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.927;DP=1054;ExcessHet=0;FS=202.274;InbreedingCoeff=-0.0274;MLEAC=1;MLEAF=0.026;MQ=56.8;MQRankSum=-1.813;QD=1.11;ReadPosRankSum=1.69;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,18:108:99:.:.:114,0,3121:.	18	0	1	0
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	1683.63	189	chr3	195779400	.	A	*	1683.63	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.547;DP=3282;ExcessHet=0.2319;FS=1.813;InbreedingCoeff=0.242;MLEAC=17;MLEAF=0.531;MQ=55.64;MQRankSum=-11.35;QD=0.78;ReadPosRankSum=3.35;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:10,188:198:99:1|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6181,369,0:195779399	7	6	3	3
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3477.33	189	chr3	195779404	.	G	*	3477.33	.	AC=14;AF=0.389;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:10,188:198:99:1|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:6181,369,0:195779399	10	6	2	1
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779410	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.792;DP=3196;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.6;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,188:195:99:1|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:12955,836,0:195779399	10	6	2	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779411	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.366;DP=3193;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.56;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,188:195:99:1|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:12951,834,0:195779399	10	6	2	1
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	3190.95	189	chr3	195779420	.	CAT	*	3190.95	.	AC=14;AF=0.412;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=15;MLEAF=0.441;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,188:196:99:1|1:195779399_GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC_G:12946,832,0:195779399	9	6	2	2
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3317.78	189	chr3	195779444	.	T	*	3317.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=4.59;DP=2827;ExcessHet=0;FS=3.028;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.03;MQRankSum=1.77;QD=2.71;ReadPosRankSum=2.62;SOR=0.102	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,188:196:99:1|1:195779444_T_*:10330,570,0:195779444	11	6	1	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3285.78	189	chr3	195779447	.	C	*	3285.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.025;DP=2844;ExcessHet=0;FS=1.652;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.09;MQRankSum=0.958;QD=2.68;ReadPosRankSum=1.99;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:4,188:196:99:1|1:195779444_T_*:10348,581,0:195779444	11	6	1	1
chr3	195779612	195779612	T	0	exonic	MUC4	.	.	.	.	599	673	33	49	168	299	0.0886933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9936.45	223	chr3	195779612	.	T	*	9936.45	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.06;DP=3149;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7301;MLEAC=14;MLEAF=0.389;MQ=56.36;MQRankSum=3.81;QD=3.83;ReadPosRankSum=-0.184;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:11,382:393:99:1|1:195779564_T_G:16004,691,0:195779564	10	6	2	1
chr3	195779614	195779614	T	0	exonic	MUC4	.	.	.	.	600	676	33	49	164	295	0.0883345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9937.47	223	chr3	195779614	.	T	*	9937.47	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.18;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7271;MLEAC=15;MLEAF=0.417;MQ=56.23;MQRankSum=3.81;QD=3.83;ReadPosRankSum=0.136;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:11,382:393:99:1|1:195779564_T_G:16004,691,0:195779564	10	6	2	1
chr3	195779615	195779615	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9912.43	223	chr3	195779615	.	C	*	9912.43	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.27;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7287;MLEAC=15;MLEAF=0.417;MQ=56.26;MQRankSum=3.86;QD=3.83;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:11,382:393:99:1|1:195779564_T_G:16004,691,0:195779564	10	6	2	1
chr3	195779623	195779623	G	0	exonic	MUC4	.	.	.	.	548	729	34	47	164	292	0.0807062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	9823.81	223	chr3	195779623	.	G	*	9823.81	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.2;DP=3131;ExcessHet=0;FS=1.316;InbreedingCoeff=0.7693;MLEAC=14;MLEAF=0.368;MQ=56.3;MQRankSum=3.87;QD=3.77;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:11,382:393:99:1|1:195779564_T_G:16004,691,0:195779564	11	6	2	0
chr3	195779628	195779628	G	0	exonic	MUC4	.	.	.	.	61	94	11	17	43	88	0.193133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	10317.3	223	chr3	195779628	.	G	*	10317.3	.	AC=14;AF=0.538;AN=26;BaseQRankSum=1.35;DP=2933;ExcessHet=0.002;FS=0.723;InbreedingCoeff=0.5476;MLEAC=19;MLEAF=0.731;MQ=56.44;MQRankSum=0.448;QD=4.3;ReadPosRankSum=-1.193;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:11,382:393:99:1|1:195779564_T_G:16004,691,0:195779564	5	6	2	6
chr3	195779658	195779658	A	0	exonic	MUC4	.	.	.	.	544	791	3	17	167	204	0.0228536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2457.99	223	chr3	195779658	.	A	*	2457.99	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.12;DP=2993;ExcessHet=0;FS=0.688;InbreedingCoeff=0.7788;MLEAC=14;MLEAF=0.368;MQ=55.73;MQRankSum=0.326;QD=1.1;ReadPosRankSum=-0.172;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:11,382:393:99:1|1:195779564_T_G:16004,691,0:195779564	11	6	2	0
chr3	195779659	195779663	CGGCT	0	exonic	MUC4	.	.	.	.	825	508	5	15	169	204	0.0333016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	2306.53	112	chr3	195779659	.	CGGCT	*	2306.53	.	AC=15;AF=0.577;AN=26;BaseQRankSum=2.14;DP=2891;ExcessHet=0;FS=0.744;InbreedingCoeff=0.6696;MLEAC=20;MLEAF=0.769;MQ=53.89;MQRankSum=1.62;QD=1.11;ReadPosRankSum=0.401;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,373:375:99:.:.:16098,1088,0:.	5	7	1	6
chr3	195779678	195779678	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	5878.28	124	chr3	195779678	.	A	*	5878.28	.	AC=13;AF=0.433;AN=30;BaseQRankSum=1.34;DP=3041;ExcessHet=0;FS=0;InbreedingCoeff=0.6827;MLEAC=15;MLEAF=0.5;MQ=51.99;MQRankSum=3.07;QD=3.82;ReadPosRankSum=3.4;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:11,250:263:99:1|1:195779671_G_*:15772,672,0:195779671	8	6	1	4
chr3	195779698	195779698	A	0	exonic	MUC4	.	.	.	.	13	166	3	2	42	49	0.020649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	2558.51	129	chr3	195779698	.	A	*	2558.51	.	AC=11;AF=0.423;AN=26;BaseQRankSum=2.63;DP=3146;ExcessHet=0;FS=0;InbreedingCoeff=0.5756;MLEAC=14;MLEAF=0.538;MQ=52.04;MQRankSum=3.14;QD=2.14;ReadPosRankSum=1.88;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:11,250:263:99:1|1:195779671_G_*:15777,674,0:195779671	7	5	1	6
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	59846.4	195	chr3	195779882	.	G	*	59846.4	.	AC=14;AF=0.538;AN=26;BaseQRankSum=0.967;DP=4496;ExcessHet=0;FS=0;InbreedingCoeff=0.4742;MLEAC=18;MLEAF=0.692;MQ=59.04;MQRankSum=-0.232;QD=18.15;ReadPosRankSum=-0.056;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,286:288:99:.:.:12285,836,0:.	5	6	2	6
chr3	195780140	195780140	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C11440A:p.L3814I,MUC4:NM_001322468:exon15:c.C10000A:p.L3334I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00751893784639	.	.	0.0003	0.0032	0	0	0	0.0002	0	0.0003	.	.	.	rs1394893485	5.823e-05	0.0002	6.291e-05	5.344e-05	0.0016	4.666e-05	4.246e-05	0.0012	0.0010	0.0016	7.125e-05	5.233e-05	7.51e-05	2.667e-05	0	2.455e-05	6.805e-05	3.051e-05	0.0002	0.0007	0.0002	0.0003	0.0008	0.0001	0.0001	0.0004	0.0003	0.0008	0	0.0006	0	0	0.0002	0.0111	5.568e-05	0	0	0.126	0.27194	T	0.312	0.19599	T	.	.	.	.	.	.	.	.	.	.	0.999615	0.47849	D	.	.	.	1.48	0.32958	T	0.07	0.06138	N	0.049	0.03613	-1.0282	0.21038	T	0.029	0.12365	T	7	0.0076615512	0.00174	T	0.007519	0.19952	T	0.048	0.13305	0.139	0.04277	0.0138822411134	0.00435	2.4349943138021597E-4	0.00022	.	.	0.452853739262	0.32334	T	.	.	.	-0.350226	0.04713	T	-0.740852	0.03855	T	0.00629011413528231	0.00070	T	0.777722	0.41106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.23041	B	.;.	.;.	-0.114255	0.03558	0.685	0.91724837911726576	0.21021	0.01495	0.04959	N	AEFBI	0.069134	0.13670	N	-1.80280118923879	0.00538	0.02317863	-1.90666639562053	0.00475	0.02103213	1.17879017613203E-4	0.05269	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.192000	0.09585	-5.863000	0.01571	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.3322:0.3337:0.3341:0.0	2.187	0.03650	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	928.55	389	chr3	195780140	.	G	T	928.55	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-4.591;DP=5485;ExcessHet=0;FS=0.649;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.031;MQ=57.36;MQRankSum=-3.169;QD=6.19;ReadPosRankSum=9.36;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,47:150:99:0|1:195780140_G_T:941,0,2637:195780140	15	0	1	3
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6615.26	804	chr3	195782507	.	G	*	6615.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.789;DP=8144;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=7;MLEAF=0.184;MQ=55.73;MQRankSum=-6.257;QD=2.61;ReadPosRankSum=1.98;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,334:336:99:.:.:14240,961,0:.	14	2	3	0
chr3	195782692	195782692	A	0	exonic	MUC4	.	.	.	.	437	963	105	8	9	130	0.0591109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2334.76	898	chr3	195782692	.	A	*	2334.76	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-3.519;DP=9868;ExcessHet=0.0506;FS=1.163;InbreedingCoeff=0.015;MLEAC=5;MLEAF=0.208;MQ=52.78;MQRankSum=-4.59;QD=2.55;ReadPosRankSum=-5.129;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,251:261:99:.:.:10206,365,0:.	9	1	2	7
chr3	195782702	195782702	A	0	exonic	MUC4	.	.	.	.	483	896	103	8	32	151	0.0622711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	6391.2	942	chr3	195782702	.	A	*	6391.2	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.125;DP=10537;ExcessHet=0.1504;FS=1.785;InbreedingCoeff=-0.1296;MLEAC=6;MLEAF=0.3;MQ=52.53;MQRankSum=-3.271;QD=3.76;ReadPosRankSum=-0.193;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:4,251:261:99:.:.:10206,365,0:.	7	1	2	9
chr3	195784460	195784460	A	0	exonic	MUC4	.	.	.	.	1145	92	157	109	19	394	0.670841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	51311.1	1858	chr3	195784460	.	A	*	51311.1	.	AC=1;AF=0.125;AN=8;BaseQRankSum=3.22;DP=23579;ExcessHet=0;FS=0;InbreedingCoeff=0.3667;MLEAC=3;MLEAF=0.375;MQ=58.19;MQRankSum=-0.584;QD=19.64;ReadPosRankSum=1.02;SOR=0.555	GT:AD:DP:GQ:PL	1/0:3,279:1569:99:46084,38697,54115	3	0	1	15
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1154	173916.0	1112	chr3	195784719	.	A	*	173916.0	.	AC=3;AF=0.115;AN=26;BaseQRankSum=1.87;DP=14491;ExcessHet=0.0379;FS=0;InbreedingCoeff=0.4154;MLEAC=4;MLEAF=0.154;MQ=56.65;MQRankSum=0.291;QD=23.18;ReadPosRankSum=-1.256;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,1016:1016:99:.:.:52116,4263,0:.	11	1	1	6
chr3	195870129	195870129	G	C	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001010938:exon11:c.C1600G:p.L534V,TNK2:NM_001308046:exon11:c.C1624G:p.L542V,TNK2:NM_001382271:exon11:c.C1624G:p.L542V,TNK2:NM_001382272:exon11:c.C1600G:p.L534V,TNK2:NM_001382273:exon11:c.C1528G:p.L510V,TNK2:NM_001382274:exon11:c.C1528G:p.L510V,TNK2:NM_001382275:exon11:c.C1624G:p.L542V,TNK2:NM_005781:exon11:c.C1528G:p.L510V	.	426	1081	14	1	0	16	0.00734619	.	.	.	1561896	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.082	.	0.0027	0.00299521	0.0036	0	0.0116	0	0	0.0046	0	0.0091	0.001423	220	154602	rs199636920	0.0026	0.0026	0.0025	0.0027	0.0105	0.0025	0.0025	0.0083	0.0075	0.0007	0.0049	0.0119	2.883e-05	0.0001	0.0105	0.0025	0.0037	0.0028	0.0025	0.0025	0.0024	0.0025	0.0053	0.0022	0.0022	0.0044	0.0040	0.0007	0	0.0053	0.0098	0.0002	0.0003	0.0068	0.0029	0.0043	0.0040	0.214	0.19361	T	0.621	0.20551	T	0.825	0.47121	P	0.327	0.46291	B	0.000159	0.49130	D	0.137530	0.960498	0.26144	N	0	0.06538	N	0.65	0.52642	T	-0.29	0.13226	N	0.452	0.48963	-1.1122	0.02887	T	0.075	0.30272	T	10	0.0076940656	0.00175	T	.	.	.	0.122	0.33800	.	.	0.834651424375	0.83307	0.12156457790278327	0.12083	0.0152577344784	0.01452	0.338176399469	0.16165	T	0.007432	0.29735	T	-0.5167	0.00460	T	-0.513614	0.20944	T	0.0119528158015316	0.00187	T	0.946005	0.86103	D	0.08645281	0.20096	0.060136728	0.11402	0.08645281	0.20095	0.060136728	0.11402	-4.678	0.33137	T	.	.	0.068	0.02861	B	.;.;.;.;.	.;.;.;.;.	3.378193	0.46710	22.3	0.98109772370810466	0.38343	0.98312	0.81520	D	AEFDBI	0.620664	0.60564	D	-0.141011003557913	0.35618	2.048193	-0.0452247894835639	0.37696	2.210776	0.999999921487396	0.74766	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.39	3.59	0.40253	4.492000	0.60054	5.864000	0.50463	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.1528:0.0:0.8472:0.0	11.102	0.47403	884	0.28482	Cdc42 binding domain-like;.;Cdc42 binding domain-like;Cdc42 binding domain-like;Cdc42 binding domain-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	0.011759	0.000000	0.016620	0.005917	0.000000	0.035088	0.018634	0.003817	0.02632	1462.33	40	chr3	195870129	.	G	C	1462.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.326;DP=881;ExcessHet=0;FS=2.799;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.56;ReadPosRankSum=-1.259;SOR=0.435	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1476,0,967	18	0	1	0
chr3	196371925	196371925	T	C	exonic	UBXN7	.	nonsynonymous SNV	UBXN7:NM_015562:exon6:c.A586G:p.I196V	.	428	1072	21	1	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00699320238984	0.0032	0.00159744	0.0025	0.0007	0.0019	0	0.0002	0.0036	0.0033	0.0016	0.0025032	387	154602	rs61742253	0.0028	0.0028	0.0028	0.0028	0.0080	0.0027	0.0027	0.0061	0.0055	0.0010	0.0039	0.0103	2.522e-05	0.0003	0.0080	0.0029	0.0034	0.0015	0.0023	0.0023	0.0024	0.0022	0.0036	0.0021	0.0021	0.0028	0.0026	0.0008	0	0.0036	0.0089	0	9.432e-05	0.0136	0.0031	0.0047	0.0019	0.017	0.53172	D	0.033	0.53788	D	0.035	0.20614	B	0.139	0.33484	B	0.000003	0.62929	D	0.102481	0.999947	0.51968	D	1.18	0.29980	L	0.93	0.44065	T	-0.71	0.20145	N	0.166	0.19861	-1.0823	0.06908	T	0.080	0.31765	T	10	0.0057495534	0.00128	T	0.006993	0.18513	T	0.053	0.14996	.	.	0.123314135267	0.11883	0.6019032175553808	0.60121	0.982007380805	0.73772	0.831505179405	0.86793	D	0.037788	0.24604	T	-0.514987	0.00470	T	-0.508515	0.21468	T	0.0262301213299861	0.01437	T	0.880812	0.59928	D	0.101016246	0.23857	0.09402935	0.22239	0.101016246	0.23857	0.09402935	0.22238	-6.84	0.52856	T	.	.	0.080	0.19998	B	.;.	.;.	3.148954	0.42619	21.6	0.99605104096503883	0.74456	0.90505	0.51737	D	AEFBI	0.177594	0.30484	N	-0.226282982509362	0.32058	1.803987	-0.0758118767059594	0.36392	2.117344	4.14668628775966E-4	0.06899	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.46	2.95	0.33285	3.216000	0.50878	4.131000	0.42030	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0736:0.2744:0.652	6.962	0.23779	912	0.21483	UAS;UAS	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.009511	0.008772	0.000000	0.008621	0.003049	0.003788	0.02632	1873.33	35	chr3	196371925	.	T	C	1873.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.442;DP=751;ExcessHet=0;FS=1.432;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=1.09;SOR=0.561	GT:AD:DP:GQ:PL	0/1:56,73:129:99:1887,0,1351	18	0	1	0
chr3	197839362	197839362	A	C	exonic	LRCH3	.	nonsynonymous SNV	LRCH3:NM_001363887:exon10:c.A1293C:p.K431N,LRCH3:NM_001365715:exon10:c.A1293C:p.K431N,LRCH3:NM_001365716:exon10:c.A1293C:p.K431N,LRCH3:NM_001365717:exon10:c.A1293C:p.K431N,LRCH3:NM_001365718:exon10:c.A1293C:p.K431N,LRCH3:NM_001365719:exon10:c.A1293C:p.K431N,LRCH3:NM_032773:exon10:c.A1293C:p.K431N	.	434	1076	11	1	0	13	0.00600462	.	.	.	3190643	LRCH3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0153412023487	0.0020	0.000798722	0.0015	0.0005	0.0013	0	0.0006	0.0023	0.0044	0.0001	0.0015071	233	154602	rs148665137	0.0015	0.0015	0.0014	0.0015	0.0119	0.0014	0.0014	0.0096	0.0088	0.0005	0.0018	0.0003	0	0.0004	0.0119	0.0016	0.0018	0.0002	0.0016	0.0016	0.0015	0.0016	0.0029	0.0014	0.0013	0.0023	0.0020	0.0005	0	0.0029	0	0	0.0003	0.0204	0.0023	0.0043	0.0004	0.018	0.52492	D	0.118	0.47581	T	0.835	0.49920	P	0.466	0.53279	P	0.000015	0.62929	D	0.138084	0.965625	0.26534	N	1.15	0.29295	L	2.06	0.31987	T	-1.72	0.41428	N	0.241	0.31478	-0.9672	0.37774	T	0.132	0.44307	T	10	0.0074974895	0.00170	T	0.015341	0.36015	T	0.059	0.16972	0.324	0.30549	0.381409048467	0.37754	0.2559485291612534	0.25508	0.291397255534	0.31546	0.526741325855	0.42575	T	0.026482	0.19590	T	-0.458273	0.01008	T	-0.436602	0.29188	T	0.0257361292577392	0.01370	T	0.957604	0.84033	D	0.21015398	0.43303	0.19592808	0.43296	0.21015398	0.43303	0.19592808	0.43295	-3.433	0.16445	T	.	.	0.395	0.63267	A	.;.;.;.;.;.	.;.;.;.;.;.	3.406218	0.47225	22.4	0.99806354933162489	0.89085	0.95075	0.63346	D	AEFBI	0.339824	0.43684	N	0.237764321041102	0.53037	3.474513	0.358728232761598	0.59036	4.078101	0.994467855849204	0.33649	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	3.654000	0.54193	7.872000	0.72015	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8866:0.0:0.1134:0.0	10.523	0.44117	856	0.34373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012097	0.005102	0.020380	0.026316	0.000000	0.008621	0.003049	0.000000	0.07895	3008.79	34	chr3	197839362	.	A	C	3008.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.014;DP=817;ExcessHet=0.3672;FS=2.656;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.2;SOR=0.551	GT:AD:DP:GQ:PL	0/1:39,37:76:99:832,0,898	16	0	3	0
chr4	1024446	1024446	A	C	exonic	FGFRL1	.	nonsynonymous SNV	FGFRL1:NM_021923:exon5:c.A854C:p.E285A,FGFRL1:NM_001004356:exon6:c.A854C:p.E285A,FGFRL1:NM_001004358:exon6:c.A854C:p.E285A,FGFRL1:NM_001370296:exon6:c.A854C:p.E285A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.727	0.808589164879	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.008	0.67890	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.67	0.42885	L	-0.82	0.74053	T	-5.08	0.82896	D	0.744	0.74371	0.055	0.83331	D	0.509	0.81517	D	10	0.89457244	0.88807	D	0.808589	0.98506	D	0.727	0.90413	0.548	0.66296	0.652154727628	0.64925	0.626736358750651	0.62606	0.640929620085	0.57711	0.786134600639	0.79854	T	0.373603	0.73757	T	0.187681	0.72749	D	0.0318149	0.72395	D	0.985660436322113	0.76591	D	0.978602	0.92442	D	0.5345253	0.69088	0.478873	0.69814	0.5345253	0.69089	0.478873	0.69815	-9.721	0.72224	D	.	.	0.411	0.60177	A	.;.;.;.	.;.;.;.	4.893895	0.80374	27.3	0.99565779166491164	0.72075	0.98964	0.89257	D	AEFBI	0.705796	0.66107	D	0.63909799794399	0.75665	6.346314	0.626925852307722	0.76900	6.577351	0.999999999703569	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	7.158000	0.77057	8.871000	0.78331	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	1.0:0.0:0.0:0.0	14.636	0.68291	878	0.29785	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2510.33	41	chr4	1024446	.	A	C	2510.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.65;DP=821;ExcessHet=0;FS=1.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.347;SOR=0.861	GT:AD:DP:GQ:PL	0/1:87,97:184:99:2524,0,2215	18	0	1	0
chr4	5498989	5498989	A	C	exonic	STK32B	.	nonsynonymous SNV	STK32B:NM_001345969:exon11:c.A1061C:p.D354A,STK32B:NM_018401:exon12:c.A1151C:p.D384A,STK32B:NM_001306082:exon13:c.A1010C:p.D337A	.	420	1099	3	0	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.00793364057204	.	0.000798722	0.0005	0	0	0	0	0	0	0.0036	0.0004075	63	154602	rs200454551	0.0003	0.0003	0.0002	0.0004	0.0041	0.0002	0.0002	0.0038	0.0036	0	2.237e-05	0	0	0	0.0003	8.994e-07	0.0004	0.0041	0.0002	0.0002	7.708e-05	0.0003	0.0050	0.0001	9.695e-05	0.0034	0.0029	0	0	0	0	0	0	0	1.47e-05	0	0.0050	0.224	0.26629	T	0.619	0.08106	T	0.001	0.07471	B	0.001	0.04355	B	0.603113	0.10939	U	0.747962	0.999996	0.08975	N	1.265	0.31966	L	-0.26	0.68329	T	-0.18	0.09796	N	0.114	0.18239	-0.9731	0.36540	T	0.177	0.52272	T	10	0.005048543	0.00109	T	0.007934	0.21033	T	0.139	0.37390	0.143	0.04650	0.790630991089	0.78869	0.47354260660288605	0.47273	0.0218929029425	0.02186	0.359760642052	0.19350	T	0.005367	0.06227	T	-0.414196	0.01865	T	-0.368021	0.37119	T	0.0337303043199586	0.02593	T	0.617538	0.23656	T	0.068954125	0.15067	0.032086622	0.01891	0.068954125	0.15067	0.032086622	0.01891	-3.329	0.14113	T	.	.	0.070	0.05360	B	.;.;.	.;.;.	1.714572	0.21829	15.37	0.89238613390287569	0.18627	0.81343	0.40766	D	AEFDBI	0.179996	0.30729	N	-0.503880788685382	0.21955	1.168881	-0.415951029010558	0.24529	1.343693	0.998669908737483	0.37413	0.732398	0.92422	0	0.588015	0.36545	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	4.94	4.94	0.64645	4.469000	0.59902	5.764000	0.49701	0.756000	0.94297	0.982000	0.35529	1.000000	0.68203	0.002000	0.04165	1.0:0.0:0.0:0.0	10.988	0.46749	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1438.33	34	chr4	5498989	.	A	C	1438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.747;DP=739;ExcessHet=0;FS=7.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.826;SOR=1.063	GT:AD:DP:GQ:PL	0/1:44,60:104:99:1452,0,955	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:105,35:140:99:404,0,2406	1	0	18	0
chr4	9980627	9980627	C	T	exonic	SLC2A9	.	nonsynonymous SNV	SLC2A9:NM_020041:exon5:c.G646A:p.G216R,SLC2A9:NM_001001290:exon6:c.G559A:p.G187R	Hypouricemia, renal, 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1037533	Hypouricemia,_renal,_2|not_provided|not_specified|SLC2A9-related_disorder	MONDO:MONDO:0012793,MedGen:C2677549,OMIM:612076|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.807	0.195782895098	.	0.000998403	0.0007	0	8.651e-05	0	0	0	0	0.0050	0.0005757	89	154602	rs561633150	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	0	0.0003	3.597e-06	8.279e-05	0.0048	0.0001	0.0001	7.71e-05	0.0002	0.0039	8.163e-05	6.72e-05	0.0026	0.0021	0	0	0	0	0	0	0	0	0	0.0039	0.002	0.72154	D	0.005	0.72224	D	0.994	0.66517	D	0.974	0.73157	D	0.000120	0.50451	D	0.134922	0.999853	0.49910	D	3.2	0.89116	M	-1.06	0.76819	T	-4.38	0.81030	D	0.934	0.93959	0.525	0.90899	D	0.674	0.88710	D	9	0.09001055	0.15643	T	0.195783	0.86441	D	0.807	0.93738	0.908	0.98109	0.795177276677	0.79327	0.9533015545597506	0.95314	0.567022438611	0.52971	0.702770471573	0.67544	T	0.655511	0.89598	D	0.055386	0.59032	T	0.307735	0.88551	D	0.273012398624651	0.23876	T	0.980402	0.94055	D	0.96471757	0.97751	0.9404425	0.97797	0.9645578	0.97736	0.93936306	0.97726	-11.013	0.81911	D	0.9366729481310614	0.97513	0.990	0.93663	P	.;.;.;.	.;.;.;.	5.204542	0.87323	29.2	0.99935465231059051	0.99579	0.96236	0.68162	D	AEFBI	0.912107	0.87230	D	0.771364336631956	0.84287	8.246019	0.694903337475968	0.81991	7.657899	0.999999999786076	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	4.77	4.77	0.60425	7.493000	0.80329	.	.	0.587000	0.30956	0.998000	0.41325	1.000000	0.68203	0.929000	0.46594	0.0:1.0:0.0:0.0	15.310	0.73732	856	0.34373	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	.	.	.	.	.	.	.	.	0.02632	1858.33	33	chr4	9980627	.	C	T	1858.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.478;DP=2066;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=0.265;SOR=0.719	GT:AD:DP:GQ:PL	0/1:98,77:175:99:1872,0,2555	18	0	1	0
chr4	13544329	13544329	G	C	exonic	NKX3-2	.	nonsynonymous SNV	NKX3-2:NM_001189:exon1:c.C86G:p.A29G	Spondylo-megaepiphyseal-metaphyseal dysplasia, Autosomal recessive	4	1516	2	0	0	2	0.000659196	.	.	.	734467	not_provided|NKX3-2-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.077	.	.	0.00279553	0.0035	0	0.0026	0	0	0	0	0.0087	0.0008085	125	154602	rs577849807	0.0005	0.0005	0.0003	0.0008	0.0087	0.0005	0.0005	0.0082	0.0080	0	0	0	0	0	0.0002	0	0.0007	0.0087	0.0003	0.0003	0.0001	0.0005	0.0095	0.0002	0.0002	0.0073	0.0066	0	0	0	0	0	0	0	0	0	0.0095	0.13	0.26740	T	0.13	0.34716	T	0.039	0.21116	B	0.019	0.18783	B	0.226568	0.16015	N	0.581149	1	0.08975	N	1.1	0.28011	L	-2.99	0.92108	D	-0.24	0.10833	N	0.072	0.04547	-0.5476	0.66877	T	0.472	0.79695	T	10	0.004713297	0.00099	T	.	.	.	0.077	0.22490	0.213	0.13210	0.833357348621	0.83177	0.09593443808794916	0.09525	0.331067288021	0.35186	0.778569400311	0.78712	T	0.083744	0.37123	T	-0.384987	0.02896	T	-0.320234	0.42549	T	0.0120307067496799	0.00190	T	0.430157	0.11673	T	0.119747125	0.28191	0.13623896	0.32597	0.10218244	0.24143	0.12763008	0.30719	-3.476	0.16098	T	.	.	0.075	0.05447	B	.	.	1.410485	0.18257	13.64	0.96805438906131724	0.31165	0.38339	0.25966	N	AEFDBHCI	0.174427	0.30155	N	-0.773793800303906	0.13995	0.6936436	-0.705951296796284	0.16813	0.8911519	0.999968245007178	0.48965	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.27	2.47	0.29113	1.111000	0.30773	0.000000	0.13247	0.571000	0.28931	0.010000	0.18352	0.981000	0.30433	0.900000	0.43643	0.205:0.0:0.795:0.0	9.072	0.35661	748	0.52143	.	.	.	.	.	.	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	0.001597	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1144.33	36	chr4	13544329	.	G	C	1144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.213;DP=901;ExcessHet=0;FS=0.69;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.78;ReadPosRankSum=-0.709;SOR=0.677	GT:AD:DP:GQ:PL	0/1:66,51:117:99:1158,0,1587	18	0	1	0
chr4	15003254	15003254	-	GCC	exonic	CPEB2	.	nonframeshift insertion	CPEB2:NM_001177381:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177382:exon1:c.581_582insGCC:p.P201_L202insP,CPEB2:NM_001177383:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNARSYGRRRGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_001177384:exon1:c.581_582insGCC:p.L202_G682delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRMDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182485:exon1:c.581_582insGCC:p.L202_G709delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQVRSSLQLPAWGSDSLQDSWCTAAGTSRIDQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*,CPEB2:NM_182646:exon1:c.581_582insGCC:p.L202_G679delinsPLHCPGRFSPPPPPAGPLLQPAQLAQRQQQQPPQQFSLLHQQHLSPQDFAPRQRPADLPPLPQLPPSPPAAPRRRHGGAGSPRKTPAAGEGSAAESPNAGLASSTPVNPAPGSMESPNHPLLNSPSNLLPGGALGAGAFSSLQSPDLPHPGGGGGGGGGGPPGGGGGGGSASPPPLPGFGTPWSVQTASPPPQPQQPPPTQPQQQPPPPQQPPQPQPQPPGSSATTPGGGSGGSLSAMPPPSPDSENGFYPGLPSSMNPAFFPSFSPVSPHGCTGLSVPTSGGGGGGFGGPFSATAVPPPPPPAMNIPQQQPPPPAAPQQPQSRRSPVSPQLQQQHQAAAAAFLQQRNSYNHHQPLLKQSPWSNHQSSGWGTGSMSWGAMHGRDHRRTGNMGIPGTMNQISPLKKPFSGNVIAPPKFTRSTPSLTPKSWIEDNVFRTDNNSNTLLPLQDRSRMYDSLNMHSLENSLIDIMRAEHDPLKGRLSYPHPGTDNLLMLNGRSSLFPIDDGLLDDGHSDQVGVLNSPTCYSAHQNGERIERFSRKVFVGGLPPDIDEDEITASFRRFGPLVVDWPHKAESKSYFPPKGYAFLLFQEESSVQALIDACIEEDGKLYLCVSSPTIKDKPVQIRPWNLSDSDFVMDGSQPLDPRKTIFVGGVPRPLRAVELAMIMDRLYGGVCYAGIDTDPELKYPKGAGRVAFSNQQSYIAAISARFVQLQHGDIDKRVEVKPYVLDDQMCDECQGARCGGKFAPFFCANVTCLQYYCEFCWANIHSRAGREFHKPLVKEGADRPRQIHFRWN*	.	0	191	27	1	7	36	0.0705596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0111	0.0222	0.0224	0	0.0065	0.0192	0.0167	0.0002305	6	26028	rs560468327	0.0034	0.0034	0.0029	0.0038	0.0285	0.0033	0.0032	0.0269	0.0262	0.0285	0.0034	0.0094	0.0107	0.0001	0.0136	0.0013	0.0056	0.0155	0.0097	0.0097	0.0098	0.0096	0.0256	0.0093	0.0091	0.0244	0.0238	0.0256	0	0.0049	0.0095	0.0097	0	0.0140	0.0021	0.0101	0.0185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051758	0.027778	0.026923	0.069307	0.000000	0.000000	0.041667	0.085938	0.1053	5529.91	48	chr4	15003254	.	A	AGCC	5529.91	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.13;DP=768;ExcessHet=6.9875;FS=0.392;InbreedingCoeff=-0.3571;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=15.94;ReadPosRankSum=0.29;SOR=0.74	GT:AD:DP:GQ:PL	0/1:15,7:22:99:249,0,581	15	0	4	0
chr4	52024120	52024120	G	A	exonic	SGCB	.	nonsynonymous SNV	SGCB:NM_000232:exon6:c.C794T:p.T265I	Muscular dystrophy, limb-girdle, type 2E, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	266358	Primary_dilated_cardiomyopathy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2E|not_provided	EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011423,MedGen:C1858593,OMIM:604286,Orphanet:119|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.312	0.0510429090072	0.0002	0.00159744	0.0001	0.0014	0	0	0	0	0	0	0.0001876	29	154602	rs116214830	5.131e-05	5.267e-05	4.901e-05	5.363e-05	0.0013	4.192e-05	3.823e-05	0.0010	0.0009	0.0013	0	0	0	0	0.0009	6.295e-06	0.0003	2.319e-05	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0007	0.0007	0.0010	0	0	0	0	0	0	0	0	0	0.073	0.34800	T	0.285	0.21343	T	0.049	0.22227	B	0.14	0.33554	B	0.008581	0.30776	N	0.403711	0.951967	0.37763	D	1.355	0.33814	L	-2.38	0.88298	D	0.09	0.05917	N	0.18	0.19459	0.417	0.89353	D	0.748	0.91415	D	10	0.015626311	0.00328	T	0.051043	0.64497	D	0.312	0.63375	.	.	0.967687927552	0.96734	0.40271667531533534	0.40187	0.0779575711569	0.08777	0.440812587738	0.30688	T	0.540314	0.84249	D	-0.272724	0.11455	T	-0.210077	0.53690	T	0.158155686378565	0.17734	T	0.885211	0.61002	D	0.0595058	0.12101	0.084697574	0.19502	0.0595058	0.12100	0.084697574	0.19501	-6.008	0.46347	T	0.07645337768492003	0.03493	0.145	0.32030	B	.	.	3.179211	0.43146	21.7	0.91735849286671767	0.21034	0.99363	0.95047	D	AEFBI	0.861843	0.77999	D	-0.0420215702847208	0.39960	2.365044	0.0707083143562036	0.43082	2.61751	0.999999999987702	0.74766	0.706548	0.73137	0	0.659464	0.62310	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	9.769000	0.98151	11.827000	0.97409	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.432000	0.27494	0.0:0.0:1.0:0.0	18.618	0.91264	.	.	.	.	.	.	.	.	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	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1125.33	34	chr4	52024120	.	G	A	1125.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.689;DP=713;ExcessHet=0;FS=1.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.836;SOR=0.512	GT:AD:DP:GQ:PL	0/1:52,48:100:99:1139,0,1327	18	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1316	202.35	101	chr4	53145477	.	T	C	202.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.909;DP=1495;ExcessHet=1.3;FS=119.723;InbreedingCoeff=-0.1484;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.495;SOR=10.505	GT:AD:DP:GQ:PL	0/1:72,28:100:99:125,0,1482	14	0	5	0
chr4	56349860	56349860	C	T	exonic	AASDH	.	nonsynonymous SNV	AASDH:NM_001286670:exon8:c.G436A:p.V146I,AASDH:NM_001286668:exon10:c.G1591A:p.V531I,AASDH:NM_001286669:exon10:c.G1432A:p.V478I,AASDH:NM_001323893:exon10:c.G1432A:p.V478I,AASDH:NM_001323899:exon10:c.G760A:p.V254I,AASDH:NM_001286671:exon11:c.G1891A:p.V631I,AASDH:NM_001286672:exon11:c.G1891A:p.V631I,AASDH:NM_001323890:exon11:c.G1891A:p.V631I,AASDH:NM_001323892:exon11:c.G1891A:p.V631I,AASDH:NM_181806:exon11:c.G1891A:p.V631I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00350155773444	0.0008	0.00119808	0.0003	0.0038	8.642e-05	0	0	0	0	0	0.000304	47	154602	rs138653291	0.0001	0.0001	0.0001	7.15e-05	0.0039	8.982e-05	8.466e-05	0.0034	0.0032	0.0039	6.708e-05	0	0	0	0.0002	1.799e-06	0.0002	0	0.0012	0.0012	0.0012	0.0011	0.0042	0.0010	0.0010	0.0037	0.0035	0.0042	0	6.539e-05	0	0	0	0	0	0.0005	0.0002	0.208	0.22833	T	0.198	0.27767	T	0.011	0.15914	B	0.021	0.19346	B	0.025243	0.26121	N	0.476069	1	0.08975	N	0	0.06538	N	2.85	0.10578	T	0.43	0.03352	N	0.074	0.07125	-0.9517	0.40678	T	0.013	0.05273	T	10	0.005921066	0.00133	T	0.003502	0.07939	T	0.022	0.04323	.	.	0.222439326576	0.21863	0.12411389934469981	0.12337	0.0502657985	0.05517	0.469817638397	0.34654	T	0.006546	0.09475	T	-0.613682	0.00120	T	-0.654569	0.08636	T	0.016334244623476	0.00403	T	0.781822	0.45619	T	0.016746242	0.00219	0.03108297	0.01648	0.016746242	0.00218	0.03108297	0.01647	-2.667	0.07481	T	.	.	0.070	0.03443	B	.;.;.;.;.	.;.;.;.;.	1.917651	0.24354	16.37	0.90042163412538412	0.19329	0.68738	0.33916	D	AEFDBI	0.161564	0.28764	N	-0.814128748891403	0.12949	0.6345974	-0.680048677398246	0.17460	0.9285054	4.85066417153161E-4	0.07123	0.732398	0.92422	0	0.633656	0.55848	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	6.06	3.57	0.40014	3.279000	0.51374	7.040000	0.57333	-0.048000	0.17318	0.977000	0.34929	1.000000	0.68203	0.454000	0.27984	0.7405:0.1296:0.13:0.0	6.728	0.22556	323	0.86843	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1854.33	40	chr4	56349860	.	C	T	1854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.994;DP=887;ExcessHet=0;FS=6.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-0.131;SOR=0.356	GT:AD:DP:GQ:PL	0/1:68,72:140:99:1868,0,1974	18	0	1	0
chr4	67512569	67512569	C	A	exonic	CENPC	.	nonsynonymous SNV	CENPC:NM_001362481:exon9:c.G1445T:p.G482V,CENPC:NM_001812:exon9:c.G1445T:p.G482V	.	.	.	.	.	.	.	.	0.7263	0.522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	.	0.0039	0.00459265	0.0023	0.0201	0.0011	0	0	0	0	0	0.0008732	135	154602	rs141379239	0.0003	0.0003	0.0003	0.0003	0.0114	0.0003	0.0003	0.0104	0.0100	0.0114	0.0008	0	0	0	0.0002	1.791e-05	0.0008	4.443e-05	0.0036	0.0036	0.0038	0.0034	0.0124	0.0033	0.0032	0.0115	0.0112	0.0124	0	0.0010	0	0	0	0	8.825e-05	0.0033	0	0.013	0.53900	D	0.331	0.18505	T	0.906	0.49993	P	0.36	0.43183	B	0.307806	0.14486	N	0.637112	0.997146	0.43662	D	1.545	0.39105	L	.	.	.	-3.5	0.68178	D	0.174	0.18649	-1.1210	0.02269	T	0.047	0.19998	T	9	0.0045818686	0.00095	T	0.004855	0.12161	T	0.062	0.17934	.	.	0.586786441633	0.58353	0.03545078778992882	0.03492	0.269153642095	0.29430	0.322058945894	0.13734	T	0.224253	0.58863	T	-0.482489	0.00715	T	-0.454808	0.27168	T	0.0727609993821956	0.09034	T	0.756224	0.37950	T	0.20340036	0.42416	0.1572935	0.36786	0.20340036	0.42416	0.1572935	0.36785	-2.814	0.08313	T	.	.	0.122	0.25592	B	.	.	3.109647	0.41939	21.4	0.98895301900685606	0.48073	0.57603	0.30420	D	AEFBI	0.165438	0.29193	N	-0.284559721885744	0.29744	1.652214	-0.298393861822161	0.28152	1.567353	0.122048539887109	0.16905	0.475973	0.10046	0	0.601575	0.49859	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.82	2.12	0.26372	0.072000	0.14482	0.034000	0.13773	-0.242000	0.07441	0.655000	0.28216	0.652000	0.25970	0.949000	0.49496	0.0:0.7147:0.0:0.2853	7.101	0.24519	913	0.21160	CENP-C, middle DNMT3B-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	0.004573	0.000000	0.009563	0.008824	0.000000	0.000000	0.000000	0.000000	0.02632	410.33	29	chr4	67512569	.	C	A	410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.5;DP=632;ExcessHet=0;FS=1.318;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.92;ReadPosRankSum=1.36;SOR=0.376	GT:AD:DP:GQ:PL	0/1:28,18:46:99:424,0,784	18	0	1	0
chr4	69200588	69200588	T	C	exonic	UGT2B11	.	nonsynonymous SNV	UGT2B11:NM_001073:exon6:c.A1442G:p.H481R	.	2	1485	34	1	0	36	0.011976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	.	.	.	0.0060	0.0062	0.0022	0.0075	0.0037	0.0064	0.0113	0.0072	0.0013063	34	26028	rs200852364	8.505e-05	0.0047	8.314e-05	8.699e-05	0.0003	7.272e-05	6.812e-05	0.0001	0.0001	0.0003	0.0001	0.0005	0.0002	3.802e-05	0	6.401e-05	8.445e-05	0.0002	2.639e-05	0.0002	5.156e-05	0	4.425e-05	8.17e-06	5.16e-06	1.175e-05	6.26e-06	0	0	0	0	0	9.448e-05	0	4.425e-05	0	0	0.034	0.44029	D	0.006	0.70582	D	0.081	0.24602	B	0.092	0.30031	B	0.000142	0.49130	N	0.080367	0.999981	0.18198	N	2.885	0.83555	M	0.07	0.61677	T	-6.67	0.92346	D	0.205	0.22742	-0.8733	0.50280	T	0.173	0.51611	T	10	0.016969383	0.00360	T	.	.	.	0.189	0.46613	.	.	0.304760801415	0.30091	0.10960936450173794	0.10889	0.00993161298319	0.00904	0.401416927576	0.25266	T	0.030796	0.21743	T	-0.161398	0.26546	T	-0.469614	0.25557	T	0.892795264720917	0.54393	D	0.640736	0.25328	T	0.37984788	0.59305	0.41448992	0.65591	0.37984788	0.59305	0.41448992	0.65591	-9.706	0.72133	D	.	.	0.110	0.21125	B	.	.	1.167581	0.15569	11.95	0.37659245556180876	0.02494	0.62903	0.31924	D	AEFI	.	.	.	-1.24356243697763	0.04385	0.1977844	-1.33254164926487	0.04016	0.1885503	2.00704249431481E-6	0.01202	0.553676	0.25195	0	0.657636	0.61667	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.27	-0.615	0.11005	3.324000	0.51734	.	.	-0.873000	0.02525	0.999000	0.42656	0.000000	0.08366	0.004000	0.06068	0.0:0.1865:0.0:0.8135	6.335	0.20497	540	0.73006	.	.	.	.	.	.	Likely benign	0	0	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	0.043716	0.052326	0.046322	0.029167	0.000000	0.051724	0.054839	0.023256	0.02632	61.33	42	chr4	69200588	.	T	C	61.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.09;DP=1254;ExcessHet=0;FS=2.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.32;MQRankSum=-16.65;QD=0.22;ReadPosRankSum=4.82;SOR=0.623	GT:AD:DP:GQ:PL	0/1:243,37:280:75:75,0,6469	18	0	1	0
chr4	73442372	73442372	A	C	exonic	AFP	.	nonsynonymous SNV	AFP:NM_001134:exon5:c.A559C:p.K187Q,AFP:NM_001354717:exon5:c.A85C:p.K29Q	Alpha-fetoprotein deficiency, Autosomal recessive	0	1434	86	2	0	90	0.030426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0085	0.00579073	0.0107	0.0015	0.0046	0	0.0056	0.0148	0.0111	0.0120	0.0102198	1580	154602	rs35765619	0.0100	0.0100	0.0099	0.0101	0.0473	0.0098	0.0098	0.0427	0.0409	0.0021	0.0061	0.0598	0.0001	0.0062	0.0473	0.0092	0.0150	0.0114	0.0086	0.0086	0.0084	0.0089	0.0122	0.0082	0.0081	0.0108	0.0102	0.0018	0.0351	0.0122	0.0614	0	0.0041	0.0340	0.0095	0.0208	0.0122	0.205	0.20078	T	0.33	0.19721	T	0.79	0.44599	P	0.49	0.47330	P	0.000023	0.55875	D	0.114545	0.645196	0.32912	D	1.83	0.48079	L	0.85	0.47130	T	-0.26	0.11185	N	0.149	0.15187	-0.7760	0.56526	T	0.090	0.34683	T	10	0.0028496683	0.00045	T	.	.	.	0.090	0.26093	.	.	.	.	0.10880772504355984	0.10809	0.243530582748	0.26857	0.423839718103	0.28365	T	0.111791	0.42756	T	-0.543176	0.00321	T	-0.542623	0.18039	T	0.0308828407571469	0.02127	T	0.712529	0.32403	T	0.2085064	0.43089	0.17459998	0.39867	0.18125178	0.39286	0.17459998	0.39866	-3.377	0.14748	T	.	.	0.099	0.18828	B	.;.	.;.	2.461662	0.31716	18.82	0.98290296841271174	0.39945	0.67771	0.33554	D	AEFDBHCI	0.226950	0.35082	N	0.188298087251018	0.50637	3.251831	0.186493612588919	0.49107	3.117882	0.999999999849649	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.33	4.11	0.47350	0.459000	0.21619	3.047000	0.36105	0.691000	0.84096	0.075000	0.22209	0.992000	0.31684	0.953000	0.50222	0.9082:0.0:0.0918:0.0	8.108	0.30059	783	0.47268	Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, conserved site|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal	.	.	.	.	rs35765619	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	0.040785	0.050505	0.052989	0.014620	0.000000	0.077586	0.051829	0.022727	0.02632	865.33	33	chr4	73442372	.	A	C	865.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.602;DP=696;ExcessHet=0;FS=0.844;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=0.632;SOR=0.58	GT:AD:DP:GQ:PL	0/1:44,35:79:99:879,0,1109	18	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	188.65	59	chr4	82485718	.	G	C	188.65	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-1.174;DP=787;ExcessHet=0.3672;FS=78.247;InbreedingCoeff=-0.1404;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=1.15;SOR=8.172	GT:AD:DP:GQ:PL	0/1:37,11:48:18:18,0,607	13	0	3	3
chr4	83075316	83075316	G	A	exonic	COPS4	.	nonsynonymous SNV	COPS4:NM_001258006:exon9:c.G1022A:p.R341H,COPS4:NM_001330727:exon11:c.G1255A:p.V419M	.	434	1048	38	2	0	42	0.0196445	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	.	0.0043	0.00439297	0.0075	0.0004	0.0018	0.0001	0.0426	0.0073	0.0155	0.0057	0.0066817	1033	154602	rs113267477	0.0060	0.0060	0.0059	0.0061	0.0134	0.0059	0.0059	0.0110	0.0101	0.0006	0.0031	0.0055	2.519e-05	0.0444	0.0134	0.0046	0.0070	0.0060	0.0072	0.0072	0.0055	0.0090	0.0060	0.0068	0.0067	0.0055	0.0054	0.0008	0	0.0041	0.0075	0.0002	0.0489	0.0102	0.0060	0.0066	0.0056	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	0.74	0.50459	T	-0.04	0.07590	N	0.076	0.05037	-0.9992	0.30143	T	0.030	0.12717	T	8	0.0015691519	0.00018	T	.	.	.	0.085	0.24743	.	.	0.393344232652	0.38951	0.10256565939720381	0.10186	.	.	.	.	.	0.005179	0.04625	T	-0.471995	0.00826	T	-0.445497	0.28196	T	0.0175240950068187	0.00487	T	0.417158	0.10968	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29505	B	.	.	0.207516	0.05916	2.355	0.79335036593062369	0.12695	0.04945	0.10706	N	AEFDBCI	0.015437	0.00294	N	-1.34601090124121	0.03166	0.141003	-1.44118826177199	0.02851	0.1319113	0.999999999999624	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.724815	0.87919	0	0.648885	0.59868	0	.	.	6.08	-12.2	0.00004	-2.725000	0.00879	-3.752000	0.02561	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.995000	0.73285	0.2703:0.2492:0.285:0.1956	1.039	0.01458	926	0.17793	.	.	.	.	.	rs113267477	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012085	0.000000	0.009511	0.011696	0.100000	0.008621	0.021341	0.018939	0.02632	1021.33	34	chr4	83075316	.	G	A	1021.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.236;DP=704;ExcessHet=0;FS=0.924;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=1.61;SOR=0.52	GT:AD:DP:GQ:PL	0/1:31,42:73:99:1035,0,681	18	0	1	0
chr4	87615730	87615733	ATAG	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,37:37:99:.:.:1584,112,0:.	5	3	10	1
chr4	87615731	87615731	T	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,37:37:99:.:.:1584,112,0:.	1	11	7	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,37:37:99:.:.:1584,112,0:.	5	3	10	1
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:80,60:140:99:492,0,1223	2	0	16	1
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,48:115:99:.:.:246,0,1005:.	2	0	17	0
chr4	106925831	106925831	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G341A:p.G114D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	0.0291245027067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.63226	D	0.021	0.63918	D	0.951	0.53992	P	0.735	0.55480	P	0.000005	0.62929	D	0.107028	0.994	0.42059	D	1.7	0.43825	L	0.85	0.48142	T	-1.85	0.43334	N	0.685	0.69913	-0.7097	0.59967	T	0.248	0.61681	T	10	0.61480206	0.67645	D	0.029125	0.51692	D	0.154	0.40340	0.678	0.81594	0.264728329957	0.26087	0.8653075087143794	0.86495	1.22684531646	0.81226	0.752565979958	0.74825	T	0.442734	0.78679	T	-0.0546003	0.43745	T	-0.316206	0.42988	T	0.972929537296295	0.69890	D	0.886311	0.70760	D	0.37360525	0.58850	0.5223394	0.72403	0.37360525	0.58851	0.5223394	0.72404	-7.397	0.56883	T	.	.	0.367	0.59672	A	.;.;.	.;.;.	4.655487	0.74259	26.1	0.99823967070247299	0.90677	0.91016	0.52696	D	AEFBI	0.580056	0.58062	D	0.550661877863298	0.70121	5.455422	0.576481034080092	0.73257	5.941059	0.0968722313810203	0.16265	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	3.206000	0.50800	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	237.33	33	chr4	106925831	.	C	T	237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.751;DP=796;ExcessHet=0;FS=69.862;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.624;SOR=6.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,27:144:99:0|1:106925831_C_T:251,0,4408:106925831	18	0	1	0
chr4	106925832	106925832	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G340A:p.G114S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0128117469006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	2.736e-06	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.31383	T	0.211	0.26631	T	0.43	0.35583	B	0.182	0.35926	B	0.000005	0.62929	D	0.107028	0.983825	0.40064	D	0.385	0.12166	N	1.0	0.42502	T	0.11	0.05706	N	0.394	0.43514	-1.0438	0.16177	T	0.127	0.43277	T	10	0.35083738	0.51947	T	0.012812	0.31705	T	0.118	0.32913	0.478	0.55663	0.244449712813	0.24043	0.7762054454360905	0.77570	1.06429463323	0.76581	0.629008471966	0.57004	T	0.204767	0.56362	T	-0.183324	0.23242	T	-0.501108	0.22233	T	0.944571077823639	0.62088	D	0.874113	0.62218	D	0.13693072	0.31725	0.19670437	0.43414	0.13693072	0.31725	0.19670437	0.43413	-2.414	0.05219	T	.	.	0.062	0.02765	B	.;.;.	.;.;.	3.818082	0.55117	23.6	0.99853102462042453	0.93191	0.91327	0.53310	D	AEFBI	0.511669	0.54020	D	0.171727963477029	0.49844	3.180471	0.28848329974208	0.54864	3.650462	0.106605283266664	0.16534	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	2.352000	0.43735	7.597000	0.61435	0.549000	0.26987	0.976000	0.34826	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	237.33	33	chr4	106925832	.	C	T	237.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.226;DP=933;ExcessHet=0;FS=69.862;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.707;SOR=6.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:117,27:144:99:0|1:106925831_C_T:251,0,4408:106925831	18	0	1	0
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:122,40:162:15:15,0,2060	5	0	12	2
chr4	109682735	109682735	T	C	exonic	MCUB	.	nonsynonymous SNV	MCUB:NM_017918:exon5:c.T605C:p.L202P	.	434	1079	9	0	0	9	0.00415321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.130286655314	7.7e-05	0.000199681	0.0004	0	0.0008	0	0	0.0003	0.0011	0.0013	0.0003428	53	154602	rs200701059	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0002	0.0012	0.0011	0	0.0006	0.0031	0	0	0.0009	7.381e-05	0.0006	0.0014	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0003	0	0	0.0004	0.0014	0	0	0.0034	0.0001	0.0014	0.0010	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000691	0.42383	D	0.152770	1	0.81001	D	3.44	0.92123	M	1.05	0.39990	T	-6.32	0.90852	D	0.657	0.66700	-0.1802	0.78175	T	0.349	0.71328	T	10	0.15403649	0.29063	T	0.130287	0.81243	D	0.561	0.82003	.	.	0.698858692784	0.69625	0.9666267793243781	0.96650	0.578397025268	0.53743	0.48331668973	0.36513	T	0.264309	0.63607	T	0.0463884	0.57876	T	0.182891	0.82162	D	0.182532305087413	0.19394	T	0.834417	0.50357	T	0.94209456	0.95461	0.93163764	0.97207	0.94209456	0.95461	0.93163764	0.97208	-14.653	0.94986	D	.	.	0.635	0.70304	P	.	.	5.136045	0.85965	28.8	0.99917647359783635	0.98518	0.97928	0.78194	D	AEFBI	0.883907	0.81318	D	0.87810442794055	0.90646	10.49959	0.825963273928844	0.91537	10.93749	0.999999999456789	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.688494	0.62686	0	0.727631	0.95156	0	.	.	6.04	6.04	0.98025	7.149000	0.76985	7.741000	0.68005	0.665000	0.62972	1.000000	0.71638	0.998000	0.33993	0.960000	0.51673	0.0:0.0:0.0:1.0	16.588	0.84597	906	0.23090	Calcium uniporter protein, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	787.33	46	chr4	109682735	.	T	C	787.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.957;DP=790;ExcessHet=0;FS=0.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=1.44;SOR=0.846	GT:AD:DP:GQ:PL	0/1:43,32:75:99:801,0,1111	18	0	1	0
chr4	127687772	127687772	G	A	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon8:c.G1354A:p.A452T	.	426	1082	13	1	0	15	0.00688389	.	.	.	496110	not_specified|INTU-related_disorder|Growth_delay|Nephronophthisis|not_provided	MedGen:CN169374|.|Human_Phenotype_Ontology:HP:0001434,Human_Phenotype_Ontology:HP:0001510,Human_Phenotype_Ontology:HP:0001512,Human_Phenotype_Ontology:HP:0001514,Human_Phenotype_Ontology:HP:0001517,Human_Phenotype_Ontology:HP:0001532,Human_Phenotype_Ontology:HP:0008847,Human_Phenotype_Ontology:HP:0008870,Human_Phenotype_Ontology:HP:0008886,Human_Phenotype_Ontology:HP:0008893,Human_Phenotype_Ontology:HP:0008926,MedGen:C0456070|Human_Phenotype_Ontology:HP:0000090,Human_Phenotype_Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orphanet:655|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00553893462461	0.0016	0.00219649	0.0030	0.0003	0.0007	0	0.0011	0.0026	0.0044	0.0099	0.002846	440	154602	rs150681845	0.0024	0.0025	0.0022	0.0027	0.0096	0.0024	0.0024	0.0091	0.0088	0.0002	0.0010	0.0015	0	0.0012	0.0059	0.0022	0.0028	0.0096	0.0019	0.0019	0.0018	0.0020	0.0077	0.0017	0.0016	0.0057	0.0050	0.0003	0	0.0042	0.0029	0	0.0009	0.0068	0.0022	0.0005	0.0077	0.224	0.18691	T	0.581	0.08476	T	0.145	0.27759	B	0.022	0.19653	B	0.224482	0.16061	N	0.617470	1	0.08975	N	1.495	0.37439	L	1.69	0.27032	T	-0.35	0.12847	N	0.136	0.13341	-1.0237	0.22508	T	0.030	0.13023	T	10	0.004006952	0.00077	T	0.005539	0.14288	T	0.007	0.00512	.	.	0.0806252709748	0.07271	0.5336723275441648	0.53292	0.108671175235	0.12253	0.347697496414	0.17582	T	0.211077	0.57175	T	-0.65973	0.00063	T	-0.714036	0.05089	T	0.00120420442747127	0.00012	T	0.560744	0.19617	T	0.023815487	0.01154	0.0425284	0.05086	0.02347175	0.01090	0.040840775	0.04505	-3.489	0.16278	T	0.14641918434712936	0.16887	0.068	0.02894	B	.	.	0.568383	0.09367	6.149	0.87625570800187447	0.17363	0.06520	0.12531	N	AEFBIJ	0.038733	0.05523	N	-1.2388396984353	0.04448	0.2007873	-1.23549003762553	0.05349	0.2546582	0.997694107069416	0.35915	0.615465	0.37627	0	0.563428	0.19063	0	0.616094	0.41390	0	0.655142	0.61905	0	.	.	5.01	1.29	0.20717	0.019000	0.13337	0.523000	0.19181	-1.585000	0.00913	0.001000	0.13787	0.000000	0.08366	0.006000	0.07323	0.2914:0.1343:0.5743:0.0	6.222	0.19899	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	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.006098	0.007576	0.02632	425.33	34	chr4	127687772	.	G	A	425.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=673;ExcessHet=0;FS=6.618;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=-0.618;SOR=1.73	GT:AD:DP:GQ:PL	0/1:23,18:41:99:439,0,575	18	0	1	0
chr4	127886242	127886242	C	T	exonic	PLK4	.	nonsynonymous SNV	PLK4:NM_001190799:exon4:c.C776T:p.S259F,PLK4:NM_001190801:exon5:c.C749T:p.S250F,PLK4:NM_014264:exon5:c.C872T:p.S291F	Microcephaly and chorioretinopathy, autosomal recessive, 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.0559429169374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-0.38	0.70833	T	-3.93	0.74051	D	0.751	0.75466	0.103	0.84230	D	0.548	0.83407	D	10	0.72181326	0.73712	D	0.055943	0.66422	D	0.525	0.79886	0.384	0.40298	0.643531025102	0.64059	0.6098644453731018	0.60918	0.507136100597	0.48901	0.614696383476	0.54980	T	0.410404	0.76515	T	0.231202	0.76834	D	0.0943294	0.76532	D	0.978559561154173	0.72384	D	0.945205	0.79148	D	0.6484798	0.75283	0.62378025	0.78075	0.6484798	0.75284	0.62378025	0.78076	-8.794	0.66798	D	.	.	0.567	0.76389	P	.;.;.;.;.	.;.;.;.;.	4.840516	0.79023	27.0	0.99854661062785532	0.93368	0.97253	0.73599	D	AEFDBCI	0.817531	0.73900	D	0.852157872899323	0.89230	9.887	0.835433430619141	0.92136	11.256	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.174000	0.77176	7.606000	0.61733	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	19.947	0.97187	838	0.37812	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1679.33	42	chr4	127886242	.	C	T	1679.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.624;DP=948;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=0.037;SOR=0.615	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1693,0,1917	18	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,37:90:99:0|1:140563137_C_G:623,0,1610:140563137	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,37:90:99:0|1:140563137_C_G:623,0,1610:140563137	1	0	18	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	.	.	.	.	.	.	.	.	0.1053	247.47	34	chr4	168898668	.	T	C	247.47	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.592;DP=1085;ExcessHet=0.7564;FS=86.384;InbreedingCoeff=-0.1185;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=0.627;SOR=8.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,17:88:16:0|1:168898668_T_C:16,0,2336:168898668	15	0	4	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	1481.95	34	chr4	168898669	.	G	A	1481.95	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-2.403;DP=1273;ExcessHet=2.9153;FS=130.099;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=2.62;ReadPosRankSum=0.622;SOR=10.1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,26:87:99:0|1:168898668_T_C:278,0,1180:168898668	13	0	6	0
chr4	174259787	174259787	T	C	exonic	FBXO8	.	nonsynonymous SNV	FBXO8:NM_012180:exon3:c.A368G:p.N123S	.	441	1040	41	0	0	41	0.0193305	.	.	.	709238	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.067	.	0.0031	0.00399361	0.0048	0.0006	0.0030	0.0002	0.0012	0.0051	0.0099	0.0115	0.0046248	715	154602	rs61748174	0.0046	0.0046	0.0043	0.0049	0.0252	0.0045	0.0045	0.0219	0.0206	0.0011	0.0026	0.0128	2.525e-05	0.0010	0.0252	0.0041	0.0055	0.0126	0.0035	0.0035	0.0036	0.0033	0.0118	0.0032	0.0031	0.0094	0.0085	0.0010	0	0.0023	0.0124	0.0004	0.0009	0.0068	0.0048	0.0057	0.0118	0.176	0.22312	T	0.825	0.09425	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.355	0.33814	L	0.62	0.53302	T	0.44	0.14000	N	0.333	0.37405	-1.0227	0.22834	T	0.082	0.32178	T	10	0.00788039	0.00179	T	.	.	.	0.067	0.19503	.	.	0.597428956802	0.59422	0.5794341773884957	0.57872	0.47075830879	0.46345	0.559513449669	0.47200	T	0.056233	0.30230	T	-0.466853	0.00890	T	-0.433983	0.29485	T	0.0275765039054513	0.01626	T	0.887111	0.61484	D	0.22652934	0.45335	0.11510894	0.27788	0.22652934	0.45335	0.11510894	0.27787	-2.551	0.08711	T	.	.	0.076	0.15966	B	.;.;.;.	.;.;.;.	2.360029	0.30268	18.38	0.99134769933955058	0.53356	0.91582	0.53830	D	AEFDGBHCI	0.645724	0.62152	D	-0.0812770085505523	0.38214	2.234735	0.108946617168113	0.45004	2.771491	0.999999999999955	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.618467	0.43123	0	0.584449	0.35598	0	.	.	5.3	5.3	0.74745	5.347000	0.65768	5.095000	0.47387	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.552	0.75899	637	0.64373	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.019134	0.005051	0.013587	0.040936	0.000000	0.025862	0.006098	0.022727	0.05263	1489.83	34	chr4	174259787	.	T	C	1489.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.3;DP=709;ExcessHet=0.119;FS=0.644;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.635;SOR=0.763	GT:AD:DP:GQ:PL	0/1:36,40:76:99:948,0,759	17	0	2	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,5:94:40:.:.:40,0,3349:.	9	0	10	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,11:97:68:0|1:176711631_G_C:68,0,3348:176711631	4	0	14	1
chr4	183666271	183666271	G	C	exonic	TRAPPC11	.	nonsynonymous SNV	TRAPPC11:NM_021942:exon3:c.G219C:p.E73D,TRAPPC11:NM_199053:exon3:c.G219C:p.E73D	Muscular dystrophy, limb-girdle, type 2S, Autosomal recessive	429	1073	20	0	0	20	0.00923361	.	.	.	251413	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_R18|not_specified|not_provided	MONDO:MONDO:0014144,MedGen:C4517996,OMIM:615356,Orphanet:369840|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.438	.	0.0006	0.00519169	0.0043	0.0004	0.0004	0	0	0.0011	0.0078	0.0268	0.0037192	575	154602	rs138760818	0.0021	0.0021	0.0014	0.0028	0.0237	0.0020	0.0020	0.0228	0.0225	0.0002	0.0004	0.0094	7.562e-05	0	0.0059	0.0005	0.0027	0.0237	0.0012	0.0012	0.0009	0.0016	0.0213	0.0011	0.0010	0.0180	0.0167	9.623e-05	0	0.0005	0.0084	0.0002	0	0.0034	0.0006	0.0009	0.0213	0.332	0.13045	T	0.313	0.19782	T	0.816	0.48618	P	0.268	0.43233	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.72	0.18721	N	.	.	.	-1.65	0.39503	N	0.83	0.82559	-0.8796	0.49793	T	0.093	0.35309	T	9	0.008832902	0.00200	T	.	.	.	0.438	0.74235	0.507	0.60232	0.297718772494	0.29385	0.6762822272158442	0.67567	0.242449313092	0.26752	0.895344734192	0.95908	D	0.056148	0.30204	T	-0.266217	0.12181	T	-0.136255	0.60441	T	0.0358278396197127	0.02951	T	0.936706	0.76258	D	0.13100906	0.30552	0.16336662	0.37900	0.15270379	0.34650	0.21760593	0.46431	-4.695	0.33367	T	0.271994395201674	0.36576	0.534	0.66116	A	.;.	.;.	0.259165	0.06380	2.843	0.97681234374604287	0.35317	0.66952	0.33258	D	AEFBI	0.191362	0.31856	N	-0.860169371462993	0.11800	0.5714975	-0.946028042817449	0.11016	0.5585789	0.999723583915953	0.42220	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	-8.23	0.00907	-0.179000	0.09761	-1.286000	0.05813	-0.281000	0.06419	0.457000	0.26620	0.000000	0.08366	0.992000	0.67800	0.2921:0.0:0.7079:0.0	20.646	0.99595	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	0.004536	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.018939	0.02632	736.33	35	chr4	183666271	.	G	C	736.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=684;ExcessHet=0;FS=0.941;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=1.01;SOR=0.565	GT:AD:DP:GQ:PL	0/1:39,27:66:99:750,0,1014	18	0	1	0
chr4	189953101	189953101	C	T	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon4:c.C293T:p.T98M	.	169	1019	334	0	0	334	0.140809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	.	.	.	0.4080	0.3423	0.3991	0.3531	0.3948	0.4099	0.4323	0.4613	0.0003816	59	154602	rs201275486	7.611e-05	0.0007	8.045e-05	7.169e-05	0.0003	6.427e-05	5.97e-05	0.0002	0.0002	6.318e-05	0.0003	0.0001	2.682e-05	0.0001	0.0003	5.437e-05	5.221e-05	0.0003	7.555e-05	0.0010	4.012e-05	0.0001	5.02e-05	4.146e-05	3.255e-05	8.32e-06	3.11e-06	5.02e-05	0	0	0	0	0.0007	0	3.052e-05	0	0	0.04	0.42199	D	0.067	0.44302	T	0.952	0.54136	P	0.4	0.44481	B	0.000001	0.84330	D	0.093692	1	0.81001	D	.	.	.	1.78	0.52642	T	-4.29	0.76414	D	0.333	0.37405	-0.8920	0.48758	T	0.126	0.43174	T	9	0.005040586	0.00109	T	.	.	.	0.267	0.58126	.	.	.	.	0.7086331413770478	0.70805	0.761265370882	0.64277	0.643288969994	0.59033	T	0.592736	0.86832	D	0.145454	0.68842	D	-0.0288412	0.68446	D	0.0610726985776521	0.07336	T	.	.	.	0.11254749	0.26589	0.23484966	0.48713	0.11254749	0.26589	0.23484966	0.48712	-9.66	0.71851	D	.	.	0.172	0.47039	B	.;.	.;.	3.588897	0.50628	23.0	0.99818926167319089	0.90238	0.93303	0.57857	D	AEFBI	0.649950	0.62423	D	0.332693509411821	0.57835	3.952406	0.333491443171521	0.57519	3.917869	0.999999999185946	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.71	3.71	0.41733	4.481000	0.59983	3.605000	0.39235	-0.252000	0.07121	1.000000	0.71638	0.999000	0.35428	0.157000	0.20547	0.0:1.0:0.0:0.0	13.859	0.63048	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.269832	0.442623	0.240437	0.270270	0.285714	0.236842	0.255725	0.272727	0.1389	276.26	16	chr4	189953101	.	C	T	276.26	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-0.497;DP=358;ExcessHet=1.3;FS=1.238;InbreedingCoeff=-0.1694;MLEAC=5;MLEAF=0.139;MQ=55.06;MQRankSum=-2.435;QD=3.54;ReadPosRankSum=0.592;SOR=0.399	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:189953101_C_T:51,0,327:189953101	13	0	5	1
chr4	189953126	189953126	G	T	splicing	FRG1	NM_004477:exon4:c.317+1G>T	.	.	.	183	1055	284	0	0	284	0.11863	1.0000	0.936	.	794301	CIC-rearranged_sarcoma	MONDO:MONDO:0956989,MedGen:C3899764	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0032	0.0014	0.0010	0.0009	0.0020	0	0.0006	0.0001153	3	26028	rs770433406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.281809	0.81469	D	0.167022	0.81231	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.592813	0.92394	32	0.99300431696382707	0.58613	0.97908	0.78038	D	AEFBI	.	.	.	1.05490941371048	0.97203	15.74775	0.843458885629421	0.92630	11.53725	0.999999998414614	0.74766	0.258101	0.04556	0	0.375	0.05954	0	0.083675	0.02720	0	0.109871	0.03346	0	0.829964	0.49773	3.53	3.53	0.39533	8.827000	0.91663	11.037000	0.85129	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.327000	0.25133	0.0:0.0:1.0:0.0	13.458	0.60660	991	0.01385	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	307.42	14	chr4	189953126	.	G	T	307.42	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.732;DP=321;ExcessHet=1.3;FS=2.88;InbreedingCoeff=-0.1524;MLEAC=5;MLEAF=0.132;MQ=54.21;MQRankSum=-2.222;QD=4.59;ReadPosRankSum=1.2;SOR=0.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:189953101_C_T:69,0,184:189953101	14	0	5	0
chr5	434610	434610	G	C	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.G1870C:p.G624R,AHRR:NM_001377239:exon11:c.G1870C:p.G624R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00248836847498	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs758412461	2.124e-06	3.42e-06	2.801e-06	1.432e-06	2.761e-06	5.7e-07	1.6e-07	7.4e-07	2e-07	0	0	0	0	0	0	2.761e-06	0	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0001	2.18e-06	8.2e-07	2.26e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0	0.01	0.59928	D	0.041	0.51112	D	0.93	0.51791	P	0.602	0.54098	P	0.951165	0.08286	U	0.974151	1	0.08975	N	0.975	0.24501	L	2.11	0.25182	T	-1.28	0.43334	N	0.299	0.33796	-1.0255	0.21919	T	0.061	0.25419	T	10	0.13613474	0.25903	T	0.002488	0.04953	T	0.066	0.19193	0.208	0.12497	0.555395099047	0.55198	0.19968527402416866	0.19885	0.416773279345	0.42313	0.408477663994	0.26245	T	0.085853	0.37594	T	-0.26438	0.12392	T	-0.61754	0.11379	T	0.365711324431975	0.27631	T	0.544146	0.18565	T	0.08448464	0.19557	0.057802387	0.10572	0.08448464	0.19557	0.057802387	0.10572	-3.363	0.14563	T	.	.	0.087	0.27613	B	.;.;.;.	.;.;.;.	0.592603	0.09609	6.384	0.9697086387456475	0.31819	0.26655	0.23055	N	AEFDGBCI	0.076514	0.15394	N	-0.708181034787475	0.15790	0.7989441	-0.899039578965062	0.12116	0.6214053	0.999991085397722	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	3.32	0.371	0.15400	0.333000	0.19512	-0.540000	0.08588	-0.127000	0.13314	0.010000	0.18352	0.000000	0.08366	0.000000	0.00833	0.524:0.0:0.476:0.0	5.787	0.17603	851	0.35303	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1098.33	53	chr5	434610	.	G	C	1098.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=860;ExcessHet=0;FS=3.825;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-1.322;SOR=0.742	GT:AD:DP:GQ:PL	0/1:56,42:98:99:1112,0,1380	18	0	1	0
chr5	637563	637563	G	T	exonic	CEP72	.	nonsynonymous SNV	CEP72:NM_018140:exon7:c.G951T:p.L317F	.	416	1097	9	0	0	9	0.00408534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00324495557901	0.0004	0.00159744	0.0012	0	0.0002	0	0	0.0007	0.0011	0.0061	0.0010543	163	154602	rs150033054	0.0006	0.0006	0.0004	0.0008	0.0054	0.0006	0.0006	0.0050	0.0049	0.0001	0.0003	0.0064	0	0	0.0040	0.0001	0.0011	0.0054	0.0005	0.0005	0.0004	0.0006	0.0054	0.0004	0.0004	0.0038	0.0032	2.405e-05	0	0.0010	0.0055	0	0	0.0034	0.0002	0.0005	0.0054	0.033	0.44358	D	0.07	0.43721	T	0.232	0.30664	B	0.118	0.32088	B	0.735500	0.06396	N	1.136510	1	0.08975	N	1.75	0.45442	L	2.7	0.12162	T	-0.86	0.23372	N	0.117	0.10626	-0.9808	0.34817	T	0.037	0.16073	T	10	0.004119903	0.00081	T	0.003245	0.07147	T	0.027	0.05988	0.112	0.02175	0.156986980423	0.15292	0.08609404244943407	0.08543	0.239248816487	0.26478	0.274086475372	0.06681	T	0.04308	0.26389	T	-0.632771	0.00092	T	-0.680203	0.06972	T	0.014869069177222	0.00315	T	0.305369	0.05850	T	0.050137132	0.09012	0.063994564	0.12761	0.050137132	0.09011	0.063994564	0.12760	-4.731	0.33777	T	.	.	0.084	0.09917	B	.	.	1.335271	0.17408	13.15	0.98905530388145735	0.48272	0.12029	0.17015	N	AEFDGBCI	0.039193	0.05659	N	-0.637750247959347	0.17818	0.920143	-0.697870215812265	0.17013	0.9027411	0.855436865648317	0.25123	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.76	2.94	0.33188	1.309000	0.33145	0.959000	0.22978	0.676000	0.76740	0.047000	0.21291	0.000000	0.08366	0.011000	0.09372	0.2084:0.0:0.7916:0.0	6.797	0.22915	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	0.004032	0.000000	0.005435	0.000000	0.000000	0.000000	0.003067	0.007576	0.02632	1394.33	34	chr5	637563	.	G	T	1394.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.485;DP=764;ExcessHet=0;FS=2.278;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-0.297;SOR=0.48	GT:AD:DP:GQ:PL	0/1:74,59:133:99:1408,0,1969	18	0	1	0
chr5	31401532	31401532	C	T	exonic	DROSHA	.	nonsynonymous SNV	DROSHA:NM_001100412:exon35:c.G3914A:p.R1305Q,DROSHA:NM_013235:exon35:c.G4025A:p.R1342Q,DROSHA:NM_001382508:exon36:c.G4025A:p.R1342Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.0272123800067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.762e-06	3.42e-06	2.748e-06	2.776e-06	2.715e-06	6.5e-07	4.4e-07	7.2e-07	2e-07	0	0	0	0	1.895e-05	0	2.715e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.017	0.60972	D	0.681	0.41422	P	0.168	0.35187	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.975	0.24501	L	1.29	0.51474	T	-1.82	0.42763	N	0.701	0.74462	-0.9514	0.40730	T	0.105	0.38464	T	10	0.6307953	0.68505	D	0.027212	0.50045	D	0.302	0.62290	0.412	0.44887	0.667616128244	0.66481	0.8803315696035041	0.88001	2.17053411201	0.95497	0.886858582497	0.94864	D	0.268557	0.64069	T	0.0999453	0.64285	D	-0.0942119	0.63843	T	0.986131191253662	0.76932	D	0.990701	0.97129	D	0.68627185	0.77309	0.44616595	0.67740	0.68627185	0.77310	0.44616595	0.67740	-13.248	0.90393	D	.	.	0.951	0.87127	P	.;.;.;.	.;.;.;.	4.691768	0.75187	26.3	0.99942976159712305	0.99848	0.98530	0.83766	D	AEFBI	0.849321	0.76614	D	0.411183419863416	0.62037	4.413199	0.547561973692704	0.71228	5.622893	0.999999999999232	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.69	5.69	0.88346	7.281000	0.77985	7.659000	0.64126	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.181	0.98202	752	0.51611	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	682.33	35	chr5	31401532	.	C	T	682.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.018;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.636;SOR=0.725	GT:AD:DP:GQ:PL	0/1:29,32:61:99:696,0,641	18	0	1	0
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	0.1053	7115.43	33	chr5	38933380	.	C	G	7115.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.67;DP=1141;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.513;SOR=0.681	GT:AD:DP:GQ:PL	0/1:72,59:131:99:1397,0,1848	15	0	4	0
chr5	53056008	53056008	G	A	exonic	ITGA2	.	nonsynonymous SNV	ITGA2:NM_002203:exon9:c.G955A:p.A319T	.	47	1473	2	0	0	2	0.000678426	.	.	.	304417	not_provided|Platelet-type_bleeding_disorder_9	MedGen:C3661900|MONDO:MONDO:0013622,MedGen:C3280114,OMIM:614200,Orphanet:73271,Orphanet:98886	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.059	.	0.0008	0.013778	0.0079	0.0010	0.0775	0	0	0.0005	0.0056	0.0007	0.0080335	1242	154602	rs41272301	0.0030	0.0030	0.0033	0.0027	0.0776	0.0029	0.0029	0.0754	0.0746	0.0008	0.0776	0	2.53e-05	0	0.0002	0.0005	0.0036	0.0008	0.0073	0.0074	0.0062	0.0085	0.0650	0.0070	0.0068	0.0616	0.0603	0.0013	0	0.0650	0	0.0002	0	0	0.0006	0.0104	0.0004	0.409	0.10180	T	0.278	0.21812	T	.	.	.	.	.	.	0.008681	0.30726	N	0.372687	0.981482	0.25036	N	.	.	.	0.57	0.54347	T	-0.3	0.11913	N	0.052	0.02366	-1.0691	0.09612	T	0.012	0.04605	T	10	0.0021493435	0.00031	T	.	.	.	0.059	0.16972	.	.	.	.	0.5852904750464311	0.58458	0.165736933584	0.18703	0.398537635803	0.24864	T	.	.	.	-0.626904	0.00100	T	-0.615754	0.11521	T	0.00454725411117018	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.29060	B	.	.	2.306537	0.29522	18.15	0.92684560638737179	0.22171	0.77026	0.37828	D	AEFBI	0.089287	0.18097	N	-0.467803912191801	0.23140	1.240608	-0.360165405693877	0.26197	1.445372	0.929779523906181	0.26981	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.73	2.68	0.30839	2.562000	0.45576	4.272000	0.42850	-0.154000	0.11915	0.994000	0.38300	0.997000	0.33255	0.835000	0.39381	0.1448:0.0:0.5937:0.2615	6.065	0.19083	869	0.31655	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	339.33	15	chr5	53056008	.	G	A	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.16;DP=542;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=-0.712;SOR=0.593	GT:AD:DP:GQ:PL	0/1:16,15:31:99:353,0,338	18	0	1	0
chr5	71599672	71599672	G	C	exonic	MCCC2	.	nonsynonymous SNV	MCCC2:NM_001363147:exon4:c.G295C:p.E99Q,MCCC2:NM_022132:exon4:c.G295C:p.E99Q	3-Methylcrotonyl-CoA carboxylase 2 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	16959	3-methylcrotonyl-CoA_carboxylase_2_deficiency|Methylcrotonyl-CoA_carboxylase_deficiency|not_provided	MONDO:MONDO:0008862,MedGen:C1859499,OMIM:210210,Orphanet:6|MONDO:MONDO:0018950,MedGen:C4551505,OMIM:PS210200,Orphanet:6|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.923	0.413832839413	0.0002	0.000399361	2.473e-05	0	0	0	0	4.497e-05	0	0	3.88e-05	6	154602	rs119103219	6.431e-05	6.43e-05	6.535e-05	6.326e-05	8.962e-05	5.362e-05	4.977e-05	6.522e-05	6.082e-05	8.962e-05	2.236e-05	0	0	0	0	7.915e-05	3.312e-05	0	0.0002	0.0002	0.0002	9.412e-05	8.821e-05	0.0001	8.722e-05	3.762e-05	2.575e-05	2.409e-05	0.0176	0	0	0	0	0	8.821e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.693	0.55135	P	0.618	0.51338	P	0.000000	0.84330	D	0.000000	1	0.81001	A	4.15	0.97575	H	-5.72	0.99296	D	-2.82	0.59710	D	0.927	0.97643	1.083	0.98981	D	0.981	0.99408	D	9	0.37141448	0.53504	T	0.413833	0.93654	D	0.923	0.98079	.	.	0.99391786001	0.99385	0.9702834571895582	0.97017	0.521547162058	0.49923	0.653680443764	0.60509	T	0.851809	0.99297	D	0.460347	0.92942	D	0.603776	0.97285	D	0.997648179531097	0.92063	D	0.995867	0.98887	D	0.8937409	0.90830	0.8485695	0.91409	0.89264756	0.90736	0.8884958	0.94161	-13.745	0.92198	D	0.6440967337849084	0.71523	0.592	0.72593	P	.;.;.	.;.;.	5.042832	0.83940	28.2	0.9975439773877528	0.84537	0.98856	0.87762	D	AEFBI	0.919774	0.89079	D	0.911538934265581	0.92315	11.35261	0.890215428719	0.95132	13.33995	0.999999999999954	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	6.02	0.97559	9.271000	0.94922	11.775000	0.95959	0.646000	0.52725	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.306	0.94151	425	0.81160	Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-CoA carboxylase|Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2205.81	34	chr5	71599672	.	G	C	2205.81	.	AC=2;AF=0.053;AN=38;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.97;SOR=1.131	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2233,207,0	18	1	0	0
chr5	73901264	73901264	G	A	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001244364:exon23:c.G3115A:p.V1039I,ARHGEF28:NM_001080479:exon31:c.G4054A:p.V1352I,ARHGEF28:NM_001177693:exon31:c.G4054A:p.V1352I	.	433	1084	4	1	0	6	0.00275989	.	.	.	252001	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	0.00633159708661	0.0038	0.00119808	0.0032	0.0008	0.0010	0.0001	0.0022	0.0049	0.0024	0.0013	0.0032082	496	154602	rs188040167	0.0040	0.0040	0.0040	0.0040	0.0045	0.0039	0.0039	0.0044	0.0044	0.0007	0.0014	0.0056	0.0004	0.0025	0.0023	0.0045	0.0039	0.0019	0.0031	0.0031	0.0030	0.0033	0.0044	0.0029	0.0028	0.0039	0.0038	0.0009	0	0.0044	0.0052	0.0008	0.0030	0.0136	0.0044	0.0043	0.0023	0.189	0.21550	T	0.262	0.24913	T	0.227	0.50838	B	0.027	0.35394	B	0.595123	0.11012	N	0.676215	0.996042	0.23711	N	2.08	0.57402	M	3.16	0.31470	T	-0.15	0.09297	N	0.114	0.15609	-1.0596	0.11855	T	0.047	0.20156	T	10	0.0044407547	0.00091	T	0.006332	0.16639	T	0.070	0.20419	.	.	0.200317383148	0.19677	0.0576468309696133	0.05705	0.0627731416284	0.06987	0.287181049585	0.08513	T	0.009089	0.09278	T	-0.606514	0.00133	T	-0.642901	0.09460	T	0.00681652945253357	0.00077	T	0.658334	0.26756	T	0.05561786	0.10834	0.062134627	0.12107	0.05561786	0.10833	0.062134627	0.12107	-4.739	0.33872	T	.	.	0.095	0.19919	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.930635	0.38935	20.8	0.99577022287281558	0.72742	0.65386	0.32720	D	AEFDGBCIJ	0.098433	0.19836	N	0.044416719433256	0.43886	2.67289	0.120652306431048	0.45608	2.820831	0.999999953391344	0.74766	0.67177	0.52595	0	0.588066	0.40923	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.52	3.7	0.41607	2.260000	0.42923	4.311000	0.42969	0.676000	0.76740	0.907000	0.31601	0.999000	0.35428	0.988000	0.63387	0.1633:0.0:0.8367:0.0	10.119	0.41783	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	0	0	1	0	0.004532	0.005051	0.001359	0.000000	0.000000	0.008621	0.009146	0.003788	0.02632	1336.33	33	chr5	73901264	.	G	A	1336.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.891;DP=724;ExcessHet=0;FS=0.77;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.5;ReadPosRankSum=-0.011;SOR=0.837	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1350,0,997	18	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2632	680.05	58	chr5	75146001	.	A	G	680.05	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.908;DP=1586;ExcessHet=6.9875;FS=78.135;InbreedingCoeff=-0.3633;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.69;ReadPosRankSum=1.52;SOR=10.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,20:106:99:.:.:113,0,1865:.	9	0	10	0
chr5	77636984	77636984	G	A	exonic	OTP	.	nonsynonymous SNV	OTP:NM_032109:exon2:c.C284T:p.A95V	.	430	1073	18	1	0	20	0.00923361	.	.	.	2827850	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.189	0.041481411508	0.0038	0.00239617	0.0057	0.0005	0.0040	0	0.0011	0.0075	0.0055	0.0073	0.0052263	808	154602	rs148662448	0.0052	0.0052	0.0050	0.0054	0.0146	0.0051	0.0050	0.0121	0.0111	0.0008	0.0041	0.0229	2.519e-05	0.0007	0.0146	0.0051	0.0058	0.0067	0.0039	0.0039	0.0042	0.0037	0.0055	0.0037	0.0036	0.0051	0.0049	0.0012	0	0.0040	0.0222	0	0.0004	0.0068	0.0055	0.0062	0.0041	0.044	0.41096	D	0.265	0.22694	T	0.164	0.28467	B	0.027	0.21085	B	0.777347	0.06633	N	1.125700	0.87462	0.35629	D	0	0.06538	N	-3.77	0.95595	D	-0.89	0.24026	N	0.259	0.29313	-0.2946	0.75136	T	0.614	0.86334	D	10	0.0064309537	0.00146	T	0.041481	0.59948	D	0.189	0.46613	.	.	0.44573540394	0.44196	0.27040516834635187	0.26953	0.857873265978	0.68834	0.600927710533	0.53035	T	0.082963	0.36947	T	-0.286225	0.10017	T	-0.179914	0.56531	T	0.0161223072741637	0.00389	T	0.711029	0.32195	T	0.18169217	0.39352	0.22694777	0.47689	0.18169217	0.39351	0.22694777	0.47688	-5.655	0.43291	T	.	.	0.087	0.11220	B	.	.	3.078151	0.41403	21.3	0.99834735827239218	0.91628	0.96602	0.69965	D	AEFDBHCI	0.706198	0.66133	D	-0.190808562669223	0.33516	1.902364	0.01489791002276	0.40407	2.410867	0.999999798589473	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	5.42	4.53	0.55009	2.500000	0.45040	5.037000	0.46877	0.676000	0.76740	0.753000	0.29166	1.000000	0.68203	1.000000	0.97212	0.0:0.1428:0.8572:0.0	15.072	0.71718	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	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	0.008560	0.000000	0.010870	0.002924	0.000000	0.017241	0.021341	0.003788	0.05263	2308.83	33	chr5	77636984	.	G	A	2308.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.705;DP=784;ExcessHet=0.119;FS=2.64;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=0.174;SOR=0.914	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1375,0,1171	17	0	2	0
chr5	79291295	79291295	A	G	exonic	JMY	.	nonsynonymous SNV	JMY:NM_152405:exon4:c.A1523G:p.E508G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.0349945659138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.434e-06	4.104e-06	0	2.902e-06	1.85e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.85e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.14	0.33554	T	0.997	0.70673	D	0.913	0.64886	D	0.000000	0.84330	D	0.051995	1	0.81001	D	1.14	0.29013	L	2.59	0.13317	T	-2.22	0.49846	N	0.567	0.59053	-1.1396	0.01373	T	0.062	0.25851	T	10	0.39356142	0.55064	T	0.034995	0.56052	D	0.257	0.56827	0.125	0.03095	0.102598925029	0.09809	0.35339093683603817	0.35253	.	.	0.730432450771	0.71569	T	0.038743	0.24948	T	-0.0812984	0.39504	T	-0.354556	0.38683	T	0.886327319385495	0.53673	D	0.928807	0.73814	D	0.21005115	0.43290	0.28919798	0.54939	0.21005115	0.43290	0.28919798	0.54938	-6.273	0.48508	T	.	.	0.278	0.51174	B	.	.	5.093402	0.85064	28.5	0.99893978160757779	0.96742	0.99579	0.97647	D	AEFBI	0.884356	0.81398	D	0.577165103524946	0.71750	5.698766	0.596256434435487	0.74671	6.176845	0.998966239708476	0.38084	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	8.404000	0.90093	9.303000	0.79891	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	15.249	0.73221	536	0.73233	JMY/WHAMM, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	264.33	22	chr5	79291295	.	A	G	264.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.642;DP=515;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.98;SOR=0.446	GT:AD:DP:GQ:PL	0/1:13,13:26:99:278,0,357	18	0	1	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1176	66.34	86	chr5	79737121	.	T	C	66.34	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-3.622;DP=1483;ExcessHet=0.7564;FS=179.988;InbreedingCoeff=-0.1331;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.685;SOR=9.967	GT:AD:DP:GQ:PL	0/1:66,20:86:62:62,0,1393	13	0	4	2
chr5	96767916	96767916	G	A	exonic	CAST	.	nonsynonymous SNV	CAST:NM_001042446:exon24:c.G1774A:p.D592N,CAST:NM_001284213:exon24:c.G1720A:p.D574N,CAST:NM_001330630:exon24:c.G1771A:p.D591N,CAST:NM_001042444:exon25:c.G1813A:p.D605N,CAST:NM_001042445:exon25:c.G1831A:p.D611N,CAST:NM_001284212:exon25:c.G1810A:p.D604N,CAST:NM_001330634:exon25:c.G1840A:p.D614N,CAST:NM_001330631:exon26:c.G1897A:p.D633N,CAST:NM_001330632:exon26:c.G1867A:p.D623N,CAST:NM_001330633:exon26:c.G1879A:p.D627N,CAST:NM_173060:exon26:c.G1870A:p.D624N,CAST:NM_001042440:exon27:c.G2062A:p.D688N,CAST:NM_001042443:exon27:c.G1936A:p.D646N,CAST:NM_001330626:exon27:c.G2089A:p.D697N,CAST:NM_001330627:exon27:c.G2059A:p.D687N,CAST:NM_001330628:exon27:c.G2017A:p.D673N,CAST:NM_001042441:exon28:c.G2128A:p.D710N,CAST:NM_001042442:exon28:c.G2119A:p.D707N,CAST:NM_001190442:exon28:c.G1897A:p.D633N,CAST:NM_001330629:exon28:c.G2101A:p.D701N,CAST:NM_001375317:exon28:c.G2074A:p.D692N,CAST:NM_001750:exon29:c.G2185A:p.D729N	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2384236	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.019	0.010810447625	.	.	6.632e-05	0	0	0	0.0003	9.044e-05	0	0	8.41e-05	13	154602	rs748910229	0.0001	0.0001	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0	6.717e-05	0	0	0.0001	0	0.0002	4.973e-05	0	4.602e-05	4.597e-05	3.856e-05	5.383e-05	7.35e-05	2.11e-05	1.527e-05	2.846e-05	1.858e-05	2.415e-05	0	0	0	0	9.436e-05	0	7.35e-05	0	0	0.148	0.26629	T	0.081	0.46862	T	0.734	0.42776	P	0.167	0.43650	B	0.130874	0.18643	N	0.585258	1	0.08975	N	2.045	0.56016	M	1.98	0.23486	T	-1.98	0.47514	N	0.077	0.08506	-1.0134	0.25848	T	0.107	0.39003	T	10	0.082941025	0.13743	T	0.01081	0.27768	T	0.021	0.04004	.	.	0.318828661733	0.31499	0.028531283645219264	0.02803	0.0715876967428	0.08021	0.234150081873	0.02289	T	0.396248	0.75493	T	-0.447748	0.01164	T	-0.676385	0.07205	T	0.0651796236634254	0.07958	T	0.964804	0.88767	D	0.031065045	0.02878	0.031054689	0.01643	0.031065045	0.02878	0.031054689	0.01643	-5.85	0.45008	T	.	.	0.075	0.09578	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.766150	0.36298	20.2	0.99499716375410618	0.67973	0.11589	0.16733	N	AEFBI	0.383202	0.46479	N	-0.412681900022234	0.25024	1.355406	-0.537911323932371	0.21127	1.141465	0.996190814402019	0.34585	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.85	3.02	0.33970	1.513000	0.35430	5.273000	0.48158	0.676000	0.76740	0.042000	0.21073	0.976000	0.30059	0.016000	0.10718	0.1752:0.1677:0.6572:0.0	5.895	0.18177	886	0.28090	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1591.33	33	chr5	96767916	.	G	A	1591.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.533;DP=782;ExcessHet=0;FS=2.783;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.42;ReadPosRankSum=-0.354;SOR=0.928	GT:AD:DP:GQ:PL	0/1:100,69:169:99:1605,0,2418	18	0	1	0
chr5	113340599	113340599	C	T	exonic	MCC	.	nonsynonymous SNV	MCC:NM_001085377:exon3:c.G547A:p.A183T	Colorectal cancer, somatic	425	1090	7	0	0	7	0.00320073	.	.	.	734804	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.008	0.0033434493211	0.0017	0.000798722	0.0025	0.0007	0.0010	0	0.0023	0.0038	0	0.0006	0.0023286	360	154602	rs75148264	0.0027	0.0027	0.0028	0.0026	0.0064	0.0026	0.0026	0.0048	0.0042	0.0006	0.0017	0.0065	0	0.0020	0.0064	0.0030	0.0030	0.0007	0.0020	0.0020	0.0020	0.0019	0.0037	0.0018	0.0017	0.0030	0.0027	0.0008	0	0.0037	0.0063	0.0002	0.0011	0	0.0024	0.0038	0.0012	0.195	0.20759	T	0.06	0.45744	T	0.0	0.02946	B	0.001	0.04355	B	0.450843	0.12509	N	0.642545	1	0.08975	N	.	.	.	1.25	0.36512	T	-0.04	0.07590	N	0.312	0.35194	-1.0062	0.28095	T	0.033	0.13986	T	9	0.0044106245	0.00090	T	0.003343	0.07451	T	0.008	0.00669	.	.	0.0297737177859	0.01360	0.19501911047765577	0.19419	0.0765748949308	0.08593	0.273665159941	0.06624	T	.	.	.	-0.691105	0.00041	T	-0.768866	0.02805	T	0.00031697255326435	0.00003	T	0.40256	0.10281	T	.	.	.	.	.	.	.	.	-3.641	0.18452	T	.	.	0.073	0.04806	B	.	.	0.349032	0.07221	3.817	0.74195682189564149	0.10605	0.07314	0.13336	N	AEFDBCI	0.046672	0.07775	N	-1.31891526004582	0.03459	0.1545445	-1.35575469894214	0.03738	0.1749991	0.999839913408045	0.43792	0.65861	0.49226	0	0.59043	0.45803	0	0.725225	0.93170	0	0.75052	0.99595	0	.	.	4.2	-0.0748	0.13062	0.058000	0.14178	0.242000	0.16320	-0.842000	0.02783	0.017000	0.19353	0.039000	0.21534	0.302000	0.24547	0.0:0.6731:0.1118:0.2152	8.803	0.34077	921	0.19240	.	.	.	.	.	.	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	0.006042	0.005051	0.006793	0.000000	0.000000	0.017241	0.009146	0.003788	0.05263	2798.83	34	chr5	113340599	.	C	T	2798.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.822;DP=909;ExcessHet=0.119;FS=0.463;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.527;SOR=0.679	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1303,0,1573	17	0	2	0
chr5	128288437	128288437	C	G	splicing	FBN2	NM_001999:exon53:c.6757+1G>C	.	.	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	1.3e-05	1.363e-06	0	.	0	0	.	.	0	0	3.828e-05	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452291	0.92585	D	0.411908	0.92493	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.587977	0.92356	32	0.99542283063003867	0.70586	0.99662	0.98450	D	AEFBI	.	.	.	1.14852595648222	0.98936	19.94604	0.987184040390611	0.98363	18.07802	0.999999999969448	0.74766	0.163922	0.03765	0	0.063388	0.01293	0	0.175069	0.04249	0	0.24341	0.04801	0	0.987168	0.95559	4.86	4.86	0.62624	7.905000	0.86479	7.672000	0.64834	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.934000	0.47231	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	319.76	72	chr5	128288437	.	C	G	319.76	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.809;DP=1313;ExcessHet=0.119;FS=195.695;InbreedingCoeff=-0.0757;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.6;ReadPosRankSum=3.25;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,40:122:99:.:.:181,0,1834:.	16	0	2	1
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1727.26	102	chr5	128288438	.	C	G	1727.26	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-1.028;DP=1798;ExcessHet=4.0268;FS=185.259;InbreedingCoeff=-0.3823;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=2.11;ReadPosRankSum=1.46;SOR=11.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,40:118:99:.:.:189,0,1775:.	6	0	8	5
chr5	128988669	128988669	G	T	exonic	SLC27A6	.	nonsynonymous SNV	SLC27A6:NM_001017372:exon3:c.G755T:p.G252V,SLC27A6:NM_001317984:exon4:c.G755T:p.G252V,SLC27A6:NM_014031:exon4:c.G755T:p.G252V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	0.0345972226381	.	.	2.471e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs772630978	4.105e-06	4.104e-06	0	8.251e-06	6.956e-05	1.48e-06	9.7e-07	2.995e-05	2.038e-05	0	0	0	0	0	0	0	0	6.956e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.049800	1	0.81001	D	3.69	0.94526	H	2.53	0.55439	T	-6.65	0.92260	D	0.828	0.82358	-0.1478	0.78970	T	0.393	0.74656	T	9	0.7805331	0.77816	D	0.034597	0.55783	D	0.365	0.68495	0.624	0.75916	0.853351334864	0.85193	0.7439310018292616	0.74339	0.368310320009	0.38387	0.455022573471	0.32630	T	0.072127	0.50495	T	0.170879	0.71205	D	0.189208	0.82525	D	0.99142587184906	0.81718	D	0.827517	0.50983	T	0.9190891	0.93159	0.8512231	0.91585	0.9190891	0.93160	0.8512231	0.91586	-8.913	0.67135	D	.	.	0.740	0.74637	P	.;.;.;.	.;.;.;.	4.669312	0.74605	26.2	0.99748678516041456	0.84077	0.95182	0.63740	D	AEFDI	0.599560	0.59253	D	0.591140819049364	0.72620	5.834673	0.482576877275088	0.66836	5.004195	0.412837409233591	0.20227	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.836244	0.99985	0	.	.	4.18	4.18	0.48473	7.089000	0.76571	7.566000	0.60594	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	17.829	0.88586	558	0.71484	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1141.33	33	chr5	128988669	.	G	T	1141.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.933;DP=723;ExcessHet=0;FS=0.805;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.999;SOR=0.577	GT:AD:DP:GQ:PL	0/1:38,50:88:99:1155,0,853	18	0	1	0
chr5	132814318	132814318	C	T	exonic	SOWAHA	.	nonsynonymous SNV	SOWAHA:NM_175873:exon1:c.C697T:p.R233W	.	457	1042	23	0	0	23	0.010916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	.	.	0.00399361	0.0119	0.0078	0	0	0	0.0044	0	0.0149	0.001533	237	154602	rs541082078	0.0069	0.0065	0.0067	0.0071	0.0106	0.0068	0.0067	0.0099	0.0097	0.0009	0.0019	4.416e-05	3.226e-05	0.0038	0.0064	0.0075	0.0051	0.0106	0.0043	0.0043	0.0045	0.0042	0.0083	0.0041	0.0040	0.0067	0.0065	0.0011	0.0011	0.0023	0	0	0.0039	0.0034	0.0072	0.0024	0.0083	0.002	0.72154	D	0.017	0.60337	D	.	.	.	.	.	.	0.977252	0.07817	N	1.011420	0.993217	0.23752	N	.	.	.	2.02	0.21119	T	-2.05	0.47008	N	0.146	0.14763	-1.0020	0.29342	T	0.081	0.32090	T	10	0.006210804	0.00140	T	.	.	.	0.118	0.32913	.	.	0.399304321381	0.39546	0.4862060505353448	0.48540	.	.	0.910517334938	0.97519	D	.	.	.	-0.40875	0.02026	T	-0.348887	0.39332	T	0.0455807386713733	0.04708	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.35267	B	.	.	3.705155	0.52863	23.3	0.99864212880696357	0.94276	0.31206	0.24279	N	AEFDBCI	0.475342	0.51922	N	0.00581537725403718	0.42119	2.531832	-0.0888221248477869	0.35850	2.079105	0.999502257936227	0.40062	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.88	3.88	0.43959	0.606000	0.23891	3.745000	0.39664	0.442000	0.21104	0.017000	0.19353	0.999000	0.35428	0.024000	0.12247	0.198:0.802:0.0:0.0	10.258	0.42586	893	0.26510	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005376	0.000000	0.000000	0.006667	0.050000	0.000000	0.000000	0.025862	0.02632	672.33	25	chr5	132814318	.	C	T	672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.989;DP=467;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=0.882;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,18:38:99:0|1:132814318_C_T:686,0,760:132814318	18	0	1	0
chr5	134661554	134661554	A	G	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon2:c.A533G:p.Y178C,SEC24A:NM_021982:exon2:c.A533G:p.Y178C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0569797869563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.43708	T	0.195	0.28032	T	0.102	0.25827	B	0.078	0.28627	B	0.758996	0.09639	N	0.891913	0.997006	0.22826	N	0.895	0.22405	L	-4.25	0.97054	D	-0.28	0.12661	N	0.288	0.32591	0.121	0.84561	D	0.761	0.91865	D	10	0.1919544	0.34903	T	0.05698	0.66802	D	0.239	0.54358	0.175	0.08135	0.898003812781	0.89699	0.3301089787337495	0.32923	0.17378015562	0.19568	0.344787716866	0.17151	T	0.014884	0.12588	T	0.0559007	0.59095	T	-0.157479	0.58578	T	0.215899216169104	0.21257	T	0.855114	0.54939	D	0.055575803	0.10820	0.047134727	0.06722	0.055575803	0.10820	0.047134727	0.06722	-7.031	0.54260	T	.	.	0.084	0.15206	B	.;.	.;.	2.807997	0.36954	20.4	0.96583914501814194	0.30344	0.61876	0.31613	D	AEFBI	0.098639	0.19872	N	-0.181788419235287	0.33894	1.928165	-0.0301127284919635	0.38361	2.259012	0.999088010153687	0.38397	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.55	3.15	0.35301	2.211000	0.42465	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.3462:0.4452:0.2087:0.0	4.13	0.09613	840	0.37365	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	177.93	38	chr5	134661554	.	A	G	177.93	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.806;DP=1220;ExcessHet=0.119;FS=109.059;InbreedingCoeff=-0.0589;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.06;SOR=8.379	GT:AD:DP:GQ:PL	0/1:121,16:137:59:59,0,3207	17	0	2	0
chr5	135824446	135824446	C	T	exonic	LOC107986453	.	nonsynonymous SNV	LOC107986453:NM_001365196:exon2:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	36.06	.	chr5	135824446	.	C	T	36.06	.	AC=2;AF=0.077;AN=26;DP=23;ExcessHet=0;FS=0;InbreedingCoeff=0.197;MLEAC=2;MLEAF=0.077;MQ=60;QD=18.03;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	12	1	0	6
chr5	138386226	138386226	G	A	exonic	KDM3B	.	nonsynonymous SNV	KDM3B:NM_016604:exon7:c.G985A:p.A329T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.0050907779686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	0.19639	T	0.448	0.13030	T	0.001	0.07471	B	0.001	0.04355	B	0.000815	0.41658	N	0.203233	1	0.81001	D	0.55	0.14455	N	0.11	0.61208	T	-0.27	0.11366	N	0.175	0.18784	-1.0628	0.11069	T	0.090	0.34463	T	10	0.06675702	0.09204	T	0.005091	0.12908	T	0.091	0.26358	0.132	0.03662	0.147330786459	0.14319	0.1916634261127402	0.19084	0.550695722903	0.51928	0.434996545315	0.29892	T	0.010045	0.09105	T	-0.219422	0.18073	T	-0.552961	0.17042	T	0.100532970980296	0.12416	T	0.712529	0.32403	T	0.026300933	0.01671	0.050727747	0.08021	0.026300933	0.01671	0.050727747	0.08020	-3.985	0.23578	T	.	.	0.065	0.01884	B	.	.	2.111299	0.26865	17.27	0.98544586678743984	0.42770	0.79100	0.39133	D	AEFBI	0.192396	0.31955	N	-0.380122664428079	0.26178	1.426746	-0.197696092152855	0.31621	1.79126	0.999871070192208	0.44625	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.35	3.57	0.40014	0.730000	0.25711	2.928000	0.35601	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.1636:0.1348:0.5444:0.1572	2.629	0.04638	367	0.84523	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	747.99	33	chr5	138386226	.	G	A	747.99	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.753;DP=1527;ExcessHet=1.3;FS=220.18;InbreedingCoeff=-0.1468;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=1.38;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,23:161:99:.:.:221,0,4396:.	15	0	4	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	985.91	191	chr5	139887481	.	C	T	985.91	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.303;DP=2082;ExcessHet=2.9153;FS=241.35;InbreedingCoeff=-0.3001;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.942;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,31:125:99:0|1:139887481_C_T:213,0,3044:139887481	10	0	7	2
chr5	140803548	140803548	A	T	exonic	PCDHA3	.	nonsynonymous SNV	PCDHA3:NM_018906:exon1:c.A2351T:p.D784V,PCDHA3:NM_031497:exon1:c.A2351T:p.D784V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.0102192624562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	0.23721	T	0.169	0.41742	T	0.001	0.07471	B	0.005	0.11217	B	0.437426	0.12670	U	0.634660	0.999998	0.08975	N	1.435	0.35949	L	2.64	0.12780	T	-4.07	0.74661	D	0.222	0.42834	-0.9961	0.31001	T	0.023	0.09650	T	10	0.08733842	0.14933	T	0.010219	0.26500	T	0.157	0.40909	0.16	0.06396	0.344483371355	0.34058	0.11481506340748879	0.11409	.	.	.	.	.	0.157946	0.50077	T	-0.186566	0.22762	T	-0.505765	0.21750	T	0.0745837077729801	0.09279	T	0.367463	0.08589	T	0.20668672	0.42851	0.17177415	0.39384	0.20668672	0.42851	0.17177415	0.39383	-6.168	0.47663	T	.	.	0.102	0.17869	B	.;.	.;.	1.710380	0.21783	15.35	0.92674333708433931	0.22158	0.28022	0.23440	N	AEFDBCI	0.119710	0.23352	N	-0.83121377547404	0.12517	0.6106309	-0.808946842601005	0.14279	0.7452771	0.355094445781977	0.19722	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.23	1.74	0.23636	0.155000	0.16180	.	.	0.686000	0.82685	0.000000	0.06391	0.000000	0.08366	0.822000	0.38733	0.7571:0.0:0.2429:0.0	8.665	0.33280	19	0.98577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1373.33	39	chr5	140803548	.	A	T	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.33;DP=851;ExcessHet=0;FS=5.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=0.738;SOR=1.192	GT:AD:DP:GQ:PL	0/1:76,52:128:99:1387,0,1901	18	0	1	0
chr5	140850693	140850693	C	G	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.C2198G:p.A733G,PCDHA9:NM_031857:exon1:c.C2198G:p.A733G	.	442	1030	45	5	0	55	0.0260047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	.	0.0005	0.00678914	0.0063	0.0002	0.0015	0.0001	0	0.0007	0.0111	0.0415	0.0054333	840	154602	rs138234390	0.0030	0.0030	0.0018	0.0041	0.0394	0.0029	0.0029	0.0383	0.0378	0.0002	0.0012	0.0014	0.0002	0	0.0105	0.0005	0.0040	0.0394	0.0016	0.0016	0.0010	0.0021	0.0340	0.0014	0.0013	0.0297	0.0280	0.0003	0	0.0015	0.0006	0	0	0.0210	0.0004	0.0014	0.0340	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.08700	B	0.006390	0.32067	N	0.000000	0.999999	0.08975	N	-0.99	0.01185	N	2.77	0.11407	T	2.36	0.00310	N	0.083	0.05929	-0.9242	0.44971	T	0.009	0.03403	T	10	0.0024614036	0.00037	T	.	.	.	0.041	0.10877	.	.	0.239305524855	0.23518	0.07940304107957419	0.07875	.	.	.	.	.	1.62E-4	0.00025	T	-0.693607	0.00040	T	-0.819536	0.01462	T	0.00586151255596773	0.00064	T	0.20168	0.03740	T	0.018968089	0.00421	0.046305787	0.06424	0.018968089	0.00421	0.046305787	0.06423	-4.812	0.37939	T	.	.	0.062	0.04041	B	.;.	.;.	-0.193616	0.03122	0.499	0.60644728228370959	0.06513	0.00357	0.01833	N	AEFDBI	0.033054	0.03850	N	-1.5191799375624	0.01723	0.07544431	-1.44704006132078	0.02797	0.1293107	1.79492614263866E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.51	1.5	0.22029	-0.767000	0.04826	.	.	-0.448000	0.05150	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.476:0.5239:0.0	13.667	0.61877	32	0.98147	Cadherin, cytoplasmic C-terminal domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014706	0.005051	0.008264	0.014881	0.050000	0.000000	0.009202	0.045455	0.05263	10500.8	473	chr5	140850693	.	C	G	10500.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.74;DP=3355;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-1.191;SOR=0.662	GT:AD:DP:GQ:PL	0/1:162,158:320:99:4093,0,3894	17	0	2	0
chr5	140884535	140884535	C	G	exonic	PCDHA13	.	nonsynonymous SNV	PCDHA13:NM_018904:exon1:c.C2267G:p.P756R,PCDHA13:NM_031865:exon1:c.C2267G:p.P756R	.	419	1053	49	1	0	51	0.0236439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	0.0004	0.00678914	0.0061	0.0002	0.0015	0.0002	0	0.0007	0.0100	0.0400	0.0052328	809	154602	rs142468733	0.0028	0.0028	0.0018	0.0039	0.0378	0.0028	0.0027	0.0367	0.0363	0.0002	0.0011	0.0012	0.0002	0	0.0097	0.0004	0.0037	0.0378	0.0015	0.0015	0.0010	0.0021	0.0328	0.0014	0.0013	0.0286	0.0270	0.0003	0	0.0014	0.0006	0	0	0.0205	0.0004	0.0014	0.0328	0.432	0.09486	T	0.344	0.35840	T	0.001	0.07471	B	0.001	0.06944	B	.	.	.	.	1	0.81001	D	0.49	0.13296	N	2.9	0.10101	T	1.29	0.00961	N	0.129	0.20262	-0.9477	0.41364	T	0.015	0.05897	T	9	0.0030344129	0.00050	T	.	.	.	0.022	0.04323	.	.	0.218112801441	0.21410	0.2361661489629874	0.23531	.	.	.	.	.	0.021645	0.16823	T	-0.618442	0.00112	T	-0.631849	0.10275	T	0.00878847322351521	0.00108	T	0.673133	0.30512	T	0.03787378	0.04938	0.0711216	0.15192	0.03787378	0.04938	0.0711216	0.15191	-2.804	0.25364	T	.	.	0.066	0.05404	B	.;.;.	.;.;.	1.321562	0.17257	13.05	0.75508712818316182	0.11102	0.24498	0.22412	N	AEFDBCI	0.157813	0.28338	N	-0.853937309411729	0.11953	0.5798126	-0.702588075416452	0.16896	0.8959734	0.0341342033371972	0.14140	0.475244	0.09938	2	0.573888	0.26702	0	0.641878	0.46077	1	0.613276	0.41899	0	.	.	4.61	2.02	0.25641	1.128000	0.30982	.	.	-0.045000	0.17359	0.036000	0.20778	0.655000	0.25985	0.707000	0.34357	0.5736:0.4264:0.0:0.0	11.497	0.49662	74	0.96871	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014617	0.005051	0.006793	0.017544	0.050000	0.000000	0.009202	0.045455	0.05263	3341.83	147	chr5	140884535	.	C	G	3341.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.2;DP=988;ExcessHet=0.119;FS=0.904;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.68;ReadPosRankSum=0.982;SOR=0.62	GT:AD:DP:GQ:PL	0/1:98,68:166:99:1657,0,2388	17	0	2	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1117.17	226	chr5	141173766	.	G	C	1117.17	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-5.191;DP=3406;ExcessHet=4.0268;FS=229.301;InbreedingCoeff=-0.4104;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=0.731;SOR=12.262	GT:AD:DP:GQ:PL	0/1:164,33:210:99:131,0,5882	6	0	6	7
chr5	141179037	141179037	C	A	exonic	PCDHB8	.	nonsynonymous SNV	PCDHB8:NM_019120:exon1:c.C1003A:p.L335M	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	0.0104	0.00778754	0.0029	0.0327	0.0007	0	0	7.492e-05	0.0011	0	0.0027167	420	154602	rs7700858	0.0009	0.0009	0.0010	0.0007	0.0327	0.0008	0.0008	0.0311	0.0305	0.0327	0.0008	0	0	0	0.0012	2.788e-05	0.0017	6.956e-05	0.0087	0.0088	0.0090	0.0083	0.0304	0.0083	0.0081	0.0291	0.0285	0.0304	0	0.0028	0	0	0	0	5.879e-05	0.0043	0.0002	0.033	0.44358	D	0.084	0.41239	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.64	0.01799	T	-0.71	0.20145	N	0.327	0.36779	-0.9633	0.38547	T	0.003	0.00961	T	9	0.0042194426	0.00084	T	.	.	.	0.032	0.07718	.	.	0.264081493735	0.26024	0.009740665806931805	0.00936	0.307721486312	0.33067	0.358101963997	0.19109	T	.	.	.	-0.691263	0.00041	T	-0.74066	0.03863	T	0.00452223462958757	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18414	B	.	.	1.531985	0.19653	14.37	0.98835475575925213	0.47035	0.01446	0.04850	N	AEFDGBI	0.068001	0.13394	N	-0.731732855537774	0.15133	0.760053	-0.858413263038488	0.13085	0.6768825	0.0456891990770014	0.14661	0.59774	0.34471	0	0.547309	0.14657	0	0.547309	0.15389	0	0.63947	0.58350	0	.	.	4.25	-0.176	0.12658	-4.407000	0.00274	.	.	0.465000	0.21702	0.000000	0.06391	0.000000	0.08366	0.587000	0.31065	0.0:0.3848:0.2733:0.3419	4.856	0.12920	661	0.61838	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2341.33	166	chr5	141179037	.	C	A	2341.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.405;DP=5138;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.72;MQRankSum=-0.424;QD=2.28;ReadPosRankSum=-1.849;SOR=0.607	GT:AD:DP:GQ:PL	0/1:850,177:1027:99:2355,0,24215	18	0	1	0
chr5	141189236	141189236	C	A	exonic	PCDHB9	.	nonsynonymous SNV	PCDHB9:NM_019119:exon1:c.C1918A:p.L640M	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.874e-07	1.368e-06	1.369e-06	0	2.237e-05	0	0	.	.	0	2.237e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.57518	.	.	.	.	.	.	.	0.5583691	0.64647	D	.	.	.	.	.	.	.	0.396794106654	0.39292	0.16191503089958484	0.16112	.	.	0.680446684361	0.64333	T	.	.	.	-0.173765	0.24667	T	-0.487378	0.23666	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.60281	A	.	.	3.393506	0.46997	22.4	0.90112001915283069	0.19393	0.93410	0.58143	D	AEFI	.	.	.	.	.	.	.	.	.	0.203071000717056	0.18148	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.062806	0.01542	0	0.649835	0.41757	3.32	3.32	0.37134	1.593000	0.36297	.	.	0.304000	0.19002	0.753000	0.29166	0.000000	0.08366	0.254000	0.23365	0.0:0.8215:0.1784:0.0	11.846	0.51662	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1282.33	150	chr5	141189236	.	C	A	1282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.146;DP=2058;ExcessHet=0;FS=6.586;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.13;MQRankSum=-7.814;QD=12.21;ReadPosRankSum=0.767;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,36:105:99:0|1:141189223_G_A:1296,0,2643:141189223	18	0	1	0
chr5	141194351	141194351	C	T	exonic	PCDHB10	.	nonsynonymous SNV	PCDHB10:NM_018930:exon1:c.C1799T:p.A600V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	.	.	0.00798722	0.0017	0.0256	0.0006	0	0	5.973e-05	0	0	0.0019978	52	26028	rs534628725	0.0009	0.0009	0.0010	0.0007	0.0327	0.0008	0.0008	0.0311	0.0305	0.0327	0.0009	0	0	0	0.0005	3.42e-05	0.0017	6.973e-05	0.0089	0.0089	0.0092	0.0085	0.0309	0.0085	0.0083	0.0295	0.0289	0.0309	0	0.0030	0	0	0	0	8.836e-05	0.0052	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	.	.	.	.	0.872052	0.35582	D	3.915	0.96218	H	0.12	0.61089	T	-3.77	0.71397	D	0.371	0.41261	0.521	0.90846	D	0.520	0.82086	D	9	0.012220383	0.00264	T	.	.	.	0.385	0.70194	0.911	0.98230	0.88962124309	0.88853	0.3344237743359311	0.33355	.	.	0.627160727978	0.56742	T	0.114175	0.43177	T	-0.32185	0.06747	T	-0.214142	0.53298	T	0.0861729266805892	0.10757	T	0.972103	0.89869	D	0.5056685	0.67426	0.5521903	0.74105	0.5056685	0.67427	0.5521903	0.74105	-11.928	0.84497	D	.	.	0.808	0.77641	P	.	.	3.018391	0.40391	21.2	0.99921621983022568	0.98787	0.63597	0.32139	D	AEFI	0.555293	0.56579	D	0.554340876879688	0.70349	5.488187	0.353241945113823	0.58703	4.042481	0.927753107527927	0.26901	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	3.43	3.43	0.38372	2.519000	0.45206	.	.	0.420000	0.20791	0.011000	0.18532	0.772000	0.26708	0.293000	0.24333	0.0:1.0:0.0:0.0	15.076	0.71746	670	0.60992	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002398	0.000000	0.005618	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1672.33	70	chr5	141194351	.	C	T	1672.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.325;DP=1111;ExcessHet=0;FS=4.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=42.66;MQRankSum=2.41;QD=13.94;ReadPosRankSum=0.333;SOR=0.481	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1686,0,1631	18	0	1	0
chr5	141210318	141210318	G	C	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.G1411C:p.G471R	.	366	1155	1	0	0	1	0.000432713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	.	0.0111	0.00958466	0.0034	0.0341	0.0008	0.0038	0.0002	0.0001	0.0011	0.0001	0.0031694	490	154602	rs145315035	0.0010	0.0010	0.0012	0.0009	0.0341	0.0010	0.0010	0.0324	0.0318	0.0341	0.0011	0	0.0020	1.872e-05	0.0014	0.0001	0.0020	0.0002	0.0091	0.0091	0.0095	0.0086	0.0314	0.0087	0.0085	0.0300	0.0294	0.0314	0	0.0030	0	0.0027	0	0	8.819e-05	0.0052	0.0004	0.007	0.59928	D	0.341	0.22016	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	2.985	0.85602	M	3.61	0.04446	T	-7.82	0.95977	D	0.437	0.49146	-1.1054	0.03497	T	0.023	0.09787	T	9	0.006754726	0.00153	T	.	.	.	0.091	0.26358	.	.	0.446913017954	0.44314	0.46290196238067366	0.46209	0.837374831212	0.67867	0.583363950253	0.50560	T	0.11456	0.43247	T	-0.524249	0.00415	T	-0.500061	0.22342	T	0.0780224049285195	0.09732	T	0.791921	0.52631	T	0.5681954	0.70961	0.47368822	0.69494	0.5681954	0.70963	0.47368822	0.69494	-10.783	0.78454	D	.	.	0.627	0.76156	P	.;.	.;.	3.552458	0.49947	22.9	0.99842727283516974	0.92316	0.11205	0.16478	N	AEFBI	0.118241	0.23130	N	0.395162359066995	0.61159	4.313366	0.220928282326697	0.51011	3.287352	0.00829722530760405	0.11648	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.83	3.83	0.43287	-0.158000	0.10058	.	.	0.593000	0.32247	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.0:0.1672:0.6611:0.1717	8.378	0.31614	692	0.58729	.;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	0.003171	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	3122.33	98	chr5	141210318	.	G	C	3122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.492;DP=1118;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.71;MQRankSum=-0.546;QD=12.24;ReadPosRankSum=0.891;SOR=0.8	GT:AD:DP:GQ:PL	0/1:125,130:255:99:3136,0,3042	18	0	1	0
chr5	141224648	141224648	G	T	exonic	PCDHB14	.	nonsynonymous SNV	PCDHB14:NM_018934:exon1:c.G1143T:p.M381I	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00808108224178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.11659	T	0.66	0.14633	T	0.003	0.11197	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.82	0.20857	L	1.05	0.39990	T	-1.48	0.36189	N	0.135	0.16864	-1.0099	0.26949	T	0.043	0.18701	T	9	0.04000929	0.02535	T	0.008081	0.21418	T	0.045	0.12272	0.434	0.48500	0.126345400529	0.12197	0.10552612884405689	0.10482	0.240759502475	0.26611	0.344900548458	0.17168	T	0.025072	0.18822	T	-0.311495	0.07618	T	-0.685217	0.06670	T	0.0320828499865651	0.02319	T	0.833317	0.50212	T	0.07661308	0.17338	0.09684008	0.23025	0.07661308	0.17337	0.09684008	0.23024	-6.396	0.49479	T	.	.	0.186	0.45726	B	.;.	.;.	0.298202	0.06740	3.253	0.77739972851547368	0.12002	0.01693	0.05392	N	AEFDGBI	0.077510	0.15619	N	-1.17825134547643	0.05329	0.2426964	-1.12528211413269	0.07220	0.3503588	2.16280149205619E-4	0.05997	0.549168	0.22868	0	0.573888	0.26702	0	0.602189	0.34648	0	0.616125	0.45549	0	.	.	4.67	0.634	0.16889	-3.409000	0.00534	.	.	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.0:0.3856:0.2691:0.3453	9.237	0.36631	688	0.59122	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	.	.	.	.	.	.	.	.	0.02632	2899.33	66	chr5	141224648	.	G	T	2899.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.93;DP=1041;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.14;ReadPosRankSum=0.667;SOR=0.708	GT:AD:DP:GQ:PL	0/1:101,104:205:99:2913,0,2806	18	0	1	0
chr5	141247938	141247938	A	G	exonic	PCDHB15	.	nonsynonymous SNV	PCDHB15:NM_018935:exon1:c.A2360G:p.E787G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00685626559661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.023	0.57104	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.81	0.48460	T	-0.64	0.18670	N	0.082	0.05799	-1.0401	0.17283	T	0.059	0.24649	T	9	0.07284564	0.10928	T	0.006856	0.18121	T	0.036	0.09122	0.314	0.28935	0.36076525451	0.35686	0.27881774181860774	0.27794	0.506412822957	0.48845	0.280564337969	0.07570	T	0.001918	0.01327	T	-0.18095	0.23594	T	-0.497698	0.22587	T	0.169017420100018	0.18514	T	0.385761	0.09460	T	0.058016773	0.11619	0.08663412	0.20084	0.058016773	0.11618	0.08663412	0.20083	-3.303	0.13776	T	.	.	0.089	0.12037	B	.	.	1.978583	0.25134	16.65	0.99391806262508353	0.62383	0.12614	0.17375	N	AEDI	0.060077	0.11394	N	-0.860552241700485	0.11791	0.571003	-0.808758956738646	0.14284	0.7455279	0.0154394010239498	0.12713	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.21	2.7	0.31007	0.350000	0.19818	.	.	0.756000	0.94297	0.000000	0.06391	0.003000	0.18671	0.035000	0.13729	0.6323:0.1464:0.0802:0.1411	2.942	0.05475	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2369.33	47	chr5	141247938	.	A	G	2369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.369;DP=921;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.9;ReadPosRankSum=-0.192;SOR=0.708	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,63:149:99:0|1:141247938_A_G:2383,0,3410:141247938	18	0	1	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	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:134,62:196:99:.:.:1078,0,2991:.	1	0	18	0
chr5	141432014	141432014	A	C	exonic	PCDHGA12	.	nonsynonymous SNV	PCDHGA12:NM_003735:exon1:c.A1255C:p.N419H,PCDHGA12:NM_032094:exon1:c.A1255C:p.N419H	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.265	0.0220921555516	.	.	.	.	.	.	.	.	.	.	.	.	.	rs778393699	1.094e-05	1.094e-05	1.361e-06	2.063e-05	0.0002	6.48e-06	5.24e-06	0.0001	8.646e-05	0	0	0	0	0	0	0	1.656e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	.	.	.	.	1	0.81001	D	1.82	0.47800	L	4.64	0.01799	T	-4.91	0.81595	D	0.596	0.61511	-1.1135	0.02785	T	0.033	0.14203	T	9	0.7572427	0.76075	D	0.022092	0.44941	T	0.265	0.57870	0.625	0.76028	0.564057482462	0.56068	0.08324992447276149	0.08258	.	.	.	.	.	0.074316	0.34910	T	-0.256749	0.13283	T	-0.403925	0.32928	T	0.949823021888733	0.63199	D	0.846915	0.66877	T	0.67801666	0.76862	0.63249546	0.78556	0.67801666	0.76863	0.63249546	0.78556	-5.89	0.46431	T	.	.	0.131	0.30450	B	.;.	.;.	4.273154	0.65030	24.8	0.99594506015972029	0.73807	0.99076	0.90873	D	AEFBI	0.854831	0.77189	D	0.787462195531344	0.85314	8.539466	0.698390077664455	0.82256	7.722337	0.999998645170978	0.74766	0.65757	0.49021	0	0.588015	0.36545	0	0.576033	0.28219	0	0.604282	0.37693	0	.	.	4.59	4.59	0.56297	3.792000	0.55181	.	.	0.756000	0.94297	0.984000	0.35821	0.991000	0.31484	0.998000	0.85391	1.0:0.0:0.0:0.0	13.796	0.62662	818	0.41518	.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3099.33	37	chr5	141432014	.	A	C	3099.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.998;DP=918;ExcessHet=0;FS=1.03;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.65;SOR=0.782	GT:AD:DP:GQ:PL	0/1:114,115:229:99:3113,0,3231	18	0	1	0
chr5	141573886	141573886	G	C	exonic	DIAPH1	.	nonsynonymous SNV	DIAPH1:NM_001079812:exon15:c.C1937G:p.P646R,DIAPH1:NM_001314007:exon16:c.C1964G:p.P655R,DIAPH1:NM_005219:exon16:c.C1964G:p.P655R	Deafness, autosomal dominant 1, Autosomal dominant;Seizures, cortical blindness, microcephaly syndrome, Autosomal recessive	27	1483	12	0	0	12	0.00402955	.	.	.	520821	not_provided|Autosomal_dominant_nonsyndromic_hearing_loss_1|DIAPH1-related_disorder|Progressive_microcephaly-seizures-cortical_blindness-developmental_delay_syndrome	MedGen:C3661900|MONDO:MONDO:0007424,MedGen:C1852282,OMIM:124900,Orphanet:90635|.|MONDO:MONDO:0014714,MedGen:C5567650,OMIM:616632,Orphanet:477814	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.378	.	.	0.00139776	0.0043	0	0.0032	0	0	0.0007	0.0093	0.0163	0.000718	111	154602	rs367669306	0.0006	0.0006	0.0004	0.0008	0.0095	0.0006	0.0006	0.0089	0.0087	6.257e-05	2.826e-05	0.0002	0	0	0.0039	1.393e-05	0.0010	0.0095	0.0003	0.0003	0.0002	0.0004	0.0075	0.0002	0.0002	0.0056	0.0049	0.0002	0	0	0.0003	0	0	0	0	0	0.0075	0.029	0.50132	D	0.002	0.79402	D	1.0	0.90584	D	0.99	0.78936	D	0.000725	0.42129	D	0.156526	1	0.81001	D	1.765	0.45800	L	-0.17	0.79376	T	-2.38	0.52451	N	0.447	0.48504	0.029	0.82823	D	0.476	0.79899	T	10	0.009348184	0.00211	T	.	.	.	0.378	0.69612	0.565	0.68633	0.953584219927	0.95309	0.2798224076378784	0.27895	0.121433819043	0.13684	0.424848616123	0.28503	T	0.294515	0.66720	T	-0.18128	0.23544	T	-0.025497	0.68667	D	0.0613302237355979	0.07377	T	0.760024	0.39447	T	0.119246475	0.28081	0.11169279	0.26945	0.13153172	0.30655	0.115664504	0.27921	-13.182	0.90212	D	.	.	0.106	0.32396	B	.;.;.;.;.;.	.;.;.;.;.;.	4.677695	0.74826	26.2	0.99013361884031392	0.50420	0.98666	0.85331	D	AEFDBHCI	0.872026	0.79369	D	0.789904815581331	0.85470	8.585508	0.70955253198377	0.83103	7.935015	0.999999999997809	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	8.926000	0.92384	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	16.992	0.86230	817	0.41665	Formin Homology 1;Formin Homology 1;Formin Homology 1;Formin Homology 1;Formin Homology 1;.	.	.	.	.	.	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	0.002567	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.015625	0.02632	1014.33	37	chr5	141573886	.	G	C	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.814;DP=909;ExcessHet=0;FS=0.717;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-0.688;SOR=0.772	GT:AD:DP:GQ:PL	0/1:60,47:107:99:1028,0,1614	18	0	1	0
chr5	141863296	141863296	G	A	exonic	PCDH1	.	nonsynonymous SNV	PCDH1:NM_001278615:exon2:c.C1898T:p.T633M,PCDH1:NM_001278613:exon3:c.C3083T:p.T1028M,PCDH1:NM_002587:exon3:c.C3035T:p.T1012M,PCDH1:NM_032420:exon3:c.C3035T:p.T1012M	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	.	.	0.00239617	0.0019	0	0.0003	0.0001	0.0003	0.0001	0.0013	0.0196	0.0017917	277	154602	rs200143790	0.0010	0.0011	0.0006	0.0015	0.0154	0.0010	0.0010	0.0146	0.0144	9.299e-05	0.0002	0	2.543e-05	0.0003	0.0022	0.0001	0.0009	0.0154	0.0005	0.0006	0.0002	0.0008	0.0135	0.0004	0.0004	0.0108	0.0099	9.629e-05	0	6.539e-05	0	0	9.427e-05	0	0.0001	0	0.0135	0.073	0.34800	T	0.094	0.39645	T	0.999	0.77913	D	0.933	0.70309	D	0.000189	0.48115	D	0.000000	1	0.81001	D	2.47	0.71715	M	1.4	0.33630	T	-2.05	0.47008	N	0.691	0.69649	-0.7419	0.58355	T	0.206	0.56512	T	10	0.010196	0.00228	T	.	.	.	0.198	0.48105	0.423	0.46693	0.21174354426	0.20776	0.2560855096410599	0.25522	1.3345040269	0.83722	0.70681655407	0.68131	T	0.071543	0.34234	T	-0.238302	0.15566	T	-0.102107	0.63234	T	0.130818232893944	0.15458	T	0.965303	0.87188	D	0.107679315	0.25461	0.12883446	0.30989	0.107679315	0.25461	0.12883446	0.30988	-7.375	0.58513	T	.	.	0.191	0.40984	B	.;.	.;.	4.406987	0.68149	25.2	0.99819031853016216	0.90238	0.86426	0.45704	D	AEFBCI	0.744535	0.68749	D	0.635926126412539	0.75460	6.309941	0.597684234809031	0.74773	6.194485	0.999999999832977	0.74766	0.722319	0.85440	0	0.59043	0.45803	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.69	4.69	0.58546	7.669000	0.82880	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	15.149	0.72357	910	0.22284	.;Protocadherin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	4839.83	33	chr5	141863296	.	G	A	4839.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.87;DP=1034;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.945;SOR=0.691	GT:AD:DP:GQ:PL	0/1:102,106:208:99:2679,0,2264	17	0	2	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	536.21	79	chr5	146286009	.	G	C	536.21	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-2.632;DP=1601;ExcessHet=2.9153;FS=120.644;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=0.9;ReadPosRankSum=0.514;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,12:77:53:0|1:146286009_G_C:53,0,2331:146286009	10	0	7	2
chr5	146286010	146286010	T	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.T3163C:p.S1055P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.0196224470012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.17	0.30436	T	0.995	0.67487	D	0.969	0.72001	D	0.000002	0.62929	D	0.000000	0.999957	0.52396	D	1.61	0.41143	L	0.46	0.56281	T	-2.19	0.49352	N	0.266	0.30118	-0.5258	0.67699	T	0.275	0.64701	T	10	0.2888462	0.46467	T	0.019622	0.42029	T	0.178	0.44724	0.108	0.01928	0.426039362998	0.42221	0.09694692585479496	0.09626	0.396786836768	0.40786	0.812551379204	0.83882	D	0.251116	0.62132	T	0.0244463	0.54980	T	-0.202661	0.54394	T	0.871832430362701	0.52172	D	0.90281	0.66017	D	0.4725479	0.65447	0.58739346	0.76067	0.4725479	0.65448	0.58739346	0.76068	-7.368	0.56679	T	.	.	0.622	0.69779	P	.	.	4.230383	0.64060	24.7	0.99856421454609945	0.93548	0.91631	0.53932	D	AEFGBI	0.628167	0.61035	D	0.54245640395686	0.69625	5.38347	0.542800382085668	0.70898	5.573445	0.999999878418952	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	3.683000	0.54396	6.145000	0.54110	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.261	0.73323	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	40.27	78	chr5	146286010	.	T	C	40.27	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.206;DP=1212;ExcessHet=0;FS=123.034;InbreedingCoeff=-0.0645;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=-1.047;SOR=7.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,12:77:53:0|1:146286009_G_C:53,0,2331:146286009	16	0	1	2
chr5	146459072	146459072	-	CAGGCC	exonic	TCERG1	.	nonframeshift insertion	TCERG1:NM_001040006:exon4:c.627_628insCAGGCC:p.Q242_V243insAQ,TCERG1:NM_001382548:exon4:c.627_628insCAGGCC:p.Q242_V243insAQ,TCERG1:NM_006706:exon4:c.627_628insCAGGCC:p.Q242_V243insAQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0004	0.0003	0.0066	0.0003	0.0003	0.0024	0.0011	0.0001153	3	26028	rs747040868	0.0011	0.0011	0.0011	0.0011	0.0146	0.0011	0.0010	0.0137	0.0133	0.0012	0.0010	0.0019	0.0146	0.0001	0.0017	0.0006	0.0016	0.0018	0.0018	0.0018	0.0017	0.0019	0.0205	0.0016	0.0016	0.0173	0.0161	0.0018	0	0.0019	0.0018	0.0205	0	0.0105	0.0008	0.0019	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	5121.34	95	chr5	146459072	.	T	TCAGGCC	5121.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.991;DP=1126;ExcessHet=0.7564;FS=0.403;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0;QD=15.47;ReadPosRankSum=0.214;SOR=0.724	GT:AD:DP:GQ:PL	0/1:55,34:89:99:1148,0,1297	18	0	1	0
chr5	148095825	148095825	C	T	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon10:c.C802T:p.R268C,SPINK5:NM_001127699:exon10:c.C802T:p.R268C,SPINK5:NM_006846:exon10:c.C802T:p.R268C	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	27	1458	31	6	0	43	0.0145319	.	.	.	297720	not_provided|Netherton_syndrome|Susceptibility_to_nonsyndromic_otitis_media|Ichthyosis_linearis_circumflexa|SPINK5-related_disorder	MedGen:C3661900|MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634|.|Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.176	.	0.0066	0.00658946	0.0065	0.0013	0.0039	0.0001	0.0035	0.0079	0.0112	0.0101	0.006714	1038	154602	rs142558269	0.0087	0.0087	0.0087	0.0087	0.0105	0.0086	0.0085	0.0100	0.0097	0.0017	0.0046	0.0147	7.572e-05	0.0032	0.0089	0.0093	0.0091	0.0105	0.0059	0.0059	0.0061	0.0057	0.0094	0.0056	0.0055	0.0082	0.0080	0.0015	0	0.0062	0.0133	0	0.0032	0	0.0088	0.0076	0.0094	0.002	0.72154	D	0.011	0.67890	D	0.999	0.77913	D	0.84	0.63994	P	0.457645	0.04850	N	1.411360	1	0.08975	N	2.135	0.59519	M	3.22	0.07024	T	-1.0	0.34596	N	0.229	0.29081	-1.0069	0.27881	T	0.037	0.16073	T	10	0.010680467	0.00237	T	.	.	.	0.176	0.44373	.	.	0.387529464389	0.38369	0.41044028393339194	0.40960	0.508721426473	0.49020	0.264859616756	0.05483	T	0.190079	0.54450	T	-0.478885	0.00751	T	-0.451266	0.27559	T	0.0166026273520082	0.00421	T	0.872413	0.58094	D	0.44952396	0.64011	0.23519337	0.48756	0.37980315	0.59302	0.23519337	0.48755	-9.877	0.73172	D	0.20916742614886388	0.27994	0.172	0.43476	B	.;.;.;.	.;.;.;.	3.671994	0.52224	23.2	0.99857554378171398	0.93639	0.21134	0.21293	N	AEFBI	0.098471	0.19841	N	-0.0612750867355711	0.39100	2.300454	-0.243013744255273	0.30013	1.686233	0.973580626111447	0.29468	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.82	3.82	0.43153	1.044000	0.29939	2.039000	0.30291	0.599000	0.40250	0.001000	0.13787	0.006000	0.19429	0.277000	0.23942	0.0:1.0:0.0:0.0	11.519	0.49792	838	0.37812	.;.;Kazal domain|Kazal domain|Kazal domain;Kazal domain|Kazal domain|Kazal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014141	0.005102	0.017663	0.002941	0.000000	0.025862	0.024540	0.007576	0.02632	484.33	53	chr5	148095825	.	C	T	484.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.801;DP=1001;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=0.821;SOR=0.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,24:71:99:1|0:148095823_A_G:498,0,1881:148095823	18	0	1	0
chr5	154822476	154822476	T	A	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon7:c.A674T:p.H225L	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.282253165996	8.2e-05	0.00159744	0.0009	0.0002	8.639e-05	0	0.0003	0.0003	0.0011	0.0050	0.0007762	120	154602	rs199868107	0.0006	0.0006	0.0004	0.0007	0.0054	0.0005	0.0005	0.0050	0.0049	0	0.0004	0	0	1.872e-05	0.0052	0.0002	0.0005	0.0054	0.0005	0.0005	0.0003	0.0006	0.0052	0.0004	0.0004	0.0036	0.0031	7.215e-05	0	0.0018	0	0	9.413e-05	0	0.0002	0.0005	0.0052	0.001	0.78490	D	0.003	0.76473	D	0.616	0.39820	P	0.574	0.49998	P	0.000000	0.84330	D	0.090003	1	0.81001	D	2.595	0.75868	M	-1.66	0.82715	D	-9.39	0.98373	D	0.906	0.91162	0.032	0.82888	D	0.600	0.85766	D	10	0.1042999	0.19222	T	0.282253	0.90273	D	0.696	0.89007	.	.	0.516884031612	0.51331	0.8477747922481085	0.84738	0.733661856495	0.62852	0.611201703548	0.54486	T	0.408201	0.76360	T	0.0614222	0.59791	T	0.315856	0.88917	D	0.345327526330948	0.26835	T	0.882812	0.65732	D	0.82542175	0.85587	0.7145852	0.83156	0.82542175	0.85589	0.7145852	0.83157	-10.014	0.73996	D	.	.	0.361	0.57829	A	.;.	.;.	4.283971	0.65277	24.8	0.96930404852154828	0.31656	0.94243	0.60550	D	AEFDBCI	0.958999	0.97910	D	0.215385357102416	0.51946	3.371953	0.193629074390948	0.49497	3.152173	0.999999999998538	0.74766	0.660377	0.49826	0	0.446627	0.06534	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.27	5.27	0.73797	7.650000	0.82668	3.376000	0.37968	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.113000	0.18872	0.0:0.0:0.0:1.0	14.387	0.66519	894	0.26265	Fatty acid hydroxylase;.	.	.	.	.	.	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	0.001359	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	908.33	34	chr5	154822476	.	T	A	908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.642;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-0.059;SOR=0.641	GT:AD:DP:GQ:PL	0/1:39,40:79:99:922,0,867	18	0	1	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,424:424:99:.:.:18991,1285,0:.	5	7	6	1
chr5	169684220	169684220	A	G	exonic	DOCK2	.	nonsynonymous SNV	DOCK2:NM_004946:exon8:c.A631G:p.M211V	Immunodeficiency 40, Autosomal recessive	425	1095	2	0	0	2	0.000912409	.	.	.	521257	DOCK2-related_disorder|DOCK2_deficiency	.|MONDO:MONDO:0014637,MedGen:C4225328,OMIM:616433,Orphanet:447737	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.021	.	0.0033	0.00279553	0.0012	0.0112	0.0003	0	0	0.0002	0.0011	0.0006	0.0010673	165	154602	rs151191554	0.0004	0.0004	0.0004	0.0004	0.0112	0.0004	0.0004	0.0102	0.0099	0.0112	0.0003	0	0	1.872e-05	0.0014	0.0001	0.0007	0.0004	0.0028	0.0028	0.0030	0.0027	0.0096	0.0026	0.0025	0.0088	0.0085	0.0096	0	0.0011	0	0	0	0	0.0001	0.0019	0.0004	0.645	0.04928	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.039629	0.24149	N	0.503423	0.999901	0.19694	N	-0.55	0.02420	N	0.95	0.43279	T	0.12	0.05604	N	0.076	0.05037	-1.0864	0.06155	T	0.024	0.10284	T	10	0.004462421	0.00092	T	.	.	.	0.021	0.04004	.	.	0.289831133145	0.28582	0.23901846070516564	0.23815	0.529502878991	0.50509	0.294148445129	0.09532	T	0.039193	0.25106	T	-0.647997	0.00074	T	-0.694184	0.06149	T	0.00568403170234956	0.00062	T	0.538946	0.18179	T	0.021924851	0.00823	0.03680814	0.03203	0.032609783	0.03319	0.039093245	0.03923	-3.551	0.17153	T	.	.	0.052	0.00203	B	.;.	.;.	1.551304	0.19880	14.48	0.90999517943816555	0.20249	0.84044	0.43130	D	AEFBI	0.287731	0.39981	N	-0.559074961233636	0.20200	1.063136	-0.339304088256649	0.26842	1.485293	0.250407944664339	0.18673	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.43	2.9	0.32809	1.482000	0.35094	5.972000	0.52016	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.5501:0.1204:0.0716:0.2579	2.669	0.04747	842	0.36989	Dedicator of cytokinesis, N-terminal domain;Dedicator of cytokinesis, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1009.33	35	chr5	169684220	.	A	G	1009.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.423;SOR=0.658	GT:AD:DP:GQ:PL	0/1:50,42:92:99:1023,0,1225	18	0	1	0
chr5	176890832	176890832	C	T	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon5:c.G524A:p.G175D	.	428	1092	2	0	0	2	0.000914913	.	.	.	3266698	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.429	0.146874787006	7.7e-05	.	0.0001	0	8.648e-05	0	0	0.0002	0	0.0003	0.0001229	19	154602	rs146251872	0.0001	0.0001	0.0001	0.0002	0.0019	0.0001	0.0001	0.0011	0.0008	0	0	0.0026	0	0	0.0019	5.306e-05	0.0003	0.0004	7.882e-05	7.879e-05	0.0001	5.378e-05	7.348e-05	4.495e-05	3.511e-05	2.846e-05	1.858e-05	0	0	6.541e-05	0.0017	0	0	0	7.348e-05	0	0	0.279	0.15561	T	0.27	0.22359	T	0.037	0.20876	B	0.192	0.36449	B	0.008321	0.30907	N	0.230254	0.647796	0.32935	D	1.305	0.32671	L	-5.3	0.98969	D	-1.26	0.31778	N	0.411	0.45142	0.963	0.96595	D	0.908	0.96962	D	10	0.08767113	0.15022	T	0.146875	0.82894	D	0.429	0.73590	.	.	0.948641867756	0.94809	0.6615470413166563	0.66091	0.489115186313	0.47684	0.456038981676	0.32768	T	0.265801	0.63769	T	-0.111734	0.34481	T	-0.0937271	0.63879	T	0.0716022555522117	0.08874	T	0.79572	0.43862	T	0.11094319	0.26220	0.12176781	0.29379	0.11094319	0.26220	0.12176781	0.29378	-6.351	0.49125	T	.	.	0.182	0.39545	B	.	.	2.780498	0.36519	20.3	0.95791056041885547	0.27831	0.17835	0.20007	N	AEFBI	0.397022	0.47326	N	-0.244921986490346	0.31306	1.754107	-0.147330219463224	0.33512	1.917673	0.999997764730231	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	2.125000	0.41639	3.379000	0.37988	0.599000	0.40250	0.230000	0.24643	1.000000	0.68203	0.981000	0.58702	0.0:0.8153:0.0:0.1847	7.500	0.26678	564	0.70960	Hexokinase, 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	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.02632	2165.33	35	chr5	176890832	.	C	T	2165.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.591;DP=815;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.06;ReadPosRankSum=-1.098;SOR=0.773	GT:AD:DP:GQ:PL	0/1:69,85:154:99:2179,0,1878	18	0	1	0
chr5	177385797	177385797	G	A	exonic	SLC34A1	.	nonsynonymous SNV	SLC34A1:NM_001167579:exon2:c.G56A:p.R19H,SLC34A1:NM_003052:exon2:c.G56A:p.R19H	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	1465469	Inborn_genetic_diseases|Hypercalcemia,_infantile,_2|not_provided|Hypophosphatemic_nephrolithiasis/osteoporosis_1	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014851,MedGen:C4310473,OMIM:616963,Orphanet:300547|MedGen:C3661900|MONDO:MONDO:0012850,MedGen:C2676786,OMIM:612286,Orphanet:244305	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.035	0.0169397634952	.	.	0.0001	0	9.386e-05	0	0	0.0001	0	0.0003	7.76e-05	12	154602	rs765766600	0.0001	0.0001	0.0001	0.0001	0.0024	0.0001	0.0001	0.0015	0.0012	0	4.476e-05	0	0.0001	1.879e-05	0.0024	0.0001	0.0002	0.0003	5.916e-05	5.911e-05	3.856e-05	8.073e-05	0.0002	3.078e-05	2.211e-05	3.763e-05	2.576e-05	2.413e-05	0	6.539e-05	0	0.0002	0	0	8.823e-05	0	0	0.102	0.32141	T	0.035	0.52389	D	0.016	0.17332	B	0.003	0.08700	B	0.200248	0.16619	N	0.536654	1	0.08975	N	0.145	0.08828	N	0.77	0.49642	T	-3.98	0.73788	D	0.296	0.33469	-1.0502	0.14341	T	0.069	0.28346	T	10	0.051735073	0.05099	T	0.01694	0.38428	T	0.035	0.08770	0.308	0.27967	0.194818534648	0.19098	0.32771104227368814	0.32684	0.0823347196902	0.09283	0.371807813644	0.21091	T	0.165018	0.51069	T	-0.409991	0.01988	T	-0.562272	0.16163	T	0.0190214070930789	0.00611	T	0.661134	0.27033	T	0.024909608	0.01372	0.024727646	0.00497	0.024909608	0.01371	0.024727646	0.00497	-4.062	0.25379	T	.	.	0.095	0.16275	B	.;.;.	.;.;.	0.734297	0.11034	7.691	0.93194508062137282	0.22860	0.46943	0.27872	N	AEFBI	0.082606	0.16729	N	-1.20933332053521	0.04863	0.2203995	-1.20209427420504	0.05877	0.2812535	0.79494834230558	0.24082	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.93	-1.16	0.09181	1.048000	0.29989	0.439000	0.18405	-1.887000	0.00537	0.282000	0.25160	0.005000	0.19230	0.000000	0.00833	0.2136:0.1241:0.5496:0.1127	3.633	0.07680	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1920.33	36	chr5	177385797	.	G	A	1920.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.78;DP=784;ExcessHet=0;FS=1.396;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=0.014;SOR=0.546	GT:AD:DP:GQ:PL	0/1:61,71:132:99:1934,0,1333	18	0	1	0
chr5	178712839	178712839	T	A	exonic	ZNF354A	.	nonsynonymous SNV	ZNF354A:NM_001324339:exon4:c.A913T:p.I305F,ZNF354A:NM_005649:exon5:c.A1039T:p.I347F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00177042804428	.	.	1.65e-05	0	0	0	0	0	0	0.0001	3.84e-05	1	26028	rs760188820	5.472e-06	5.472e-06	2.722e-06	8.251e-06	9.275e-05	2.35e-06	1.7e-06	4.579e-05	3.272e-05	0	0	0	0	0	0	0	0	9.275e-05	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.015	0.52492	D	0.03	0.54159	D	0.257	0.31412	B	0.143	0.33763	B	.	.	.	.	0.999983	0.18198	N	2.77	0.80896	M	2.28	0.17271	T	-2.8	0.59226	D	0.212	0.23632	-0.9797	0.35071	T	0.055	0.23300	T	9	0.075945854	0.11802	T	0.00177	0.03012	T	0.041	0.10877	0.31	0.28289	0.0954503805726	0.09146	0.13921868603784837	0.13844	0.472449108266	0.46487	0.503391444683	0.39299	T	0.214417	0.57600	T	-0.374382	0.03378	T	-0.538882	0.18406	T	0.161731865923335	0.17998	T	0.030197	0.00189	T	0.15937458	0.35805	0.16381997	0.37982	0.15937458	0.35804	0.16381997	0.37981	-5.752	0.44154	T	.	.	0.110	0.21125	B	.	.	1.974098	0.25078	16.63	0.75985732366324066	0.11288	0.00077	0.00530	N	AEFDBCI	0.086564	0.17551	N	-0.908635833251642	0.10638	0.509373	-1.08712365967064	0.07953	0.3889806	0.155323122044831	0.17507	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.86	-3.09	0.05006	0.743000	0.25899	-0.307000	0.10069	-0.161000	0.11593	0.000000	0.06391	0.000000	0.08366	0.810000	0.38174	0.0:0.2413:0.4675:0.2912	6.463	0.21168	967	0.07127	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2339.33	35	chr5	178712839	.	T	A	2339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.341;DP=1191;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.69;MQRankSum=-2.231;QD=12.85;ReadPosRankSum=-1.575;SOR=0.65	GT:AD:DP:GQ:PL	0/1:90,92:182:99:2353,0,2265	18	0	1	0
chr6	16327702	16327702	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G609T:p.Q203H,ATXN1:NM_000332:exon8:c.G609T:p.Q203H	Spinocerebellar ataxia 1, Autosomal dominant	0	1520	1	0	1	2	0.000328839	.	.	.	919020	Inborn_genetic_diseases|ATXN1-related_disorder|Spinocerebellar_ataxia_type_1	MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0008119,MedGen:C0752120,OMIM:164400,Orphanet:98755	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.075	0.0126167537461	0.0006	0.000798722	0.0002	0.0001	0	0.0001	0	0.0004	0	6.242e-05	4.53e-05	7	154602	rs199744696	0.0006	0.0006	0.0006	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0003	0.0003	0	0.0006	0.0003	0	0.0006	0.0005	0.0002	0.0006	0.0006	0.0007	0.0005	0.0011	0.0005	0.0005	0.0008	0.0007	0.0011	0	0.0005	0	0.0008	0	0	0.0005	0.0005	0.0002	0.082	0.33254	T	0.036	0.52060	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.14	0.60854	T	0.09	0.05917	N	0.233	0.26233	-1.0148	0.25400	T	0.034	0.14726	T	9	0.020778894	0.00485	T	0.012617	0.31353	T	0.075	0.21907	0.258	0.20002	0.678472413359	0.67573	0.4276358579339323	0.42680	0.386732587604	0.39963	0.364669501781	0.20064	T	0.327071	0.69762	T	-0.123965	0.32478	T	-0.415844	0.31551	T	0.00890124525604402	0.00111	T	0.378962	0.09121	T	0.049666084	0.08852	0.08174316	0.18601	0.049666084	0.08852	0.08174316	0.18600	-6.715	0.51923	T	.	.	0.152	0.33755	B	.;.	.;.	0.591786	0.09604	6.376	0.84571437700183638	0.15370	0.01842	0.05707	N	AEFBI	0.043832	0.06979	N	-1.17715047882049	0.05346	0.243515	-1.23148842725495	0.05411	0.2577546	0.0981892677065721	0.16299	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.714379	0.83352	0	.	.	1.44	0.467	0.15933	-0.574000	0.05960	0.248000	0.16392	-0.808000	0.03092	0.254000	0.24889	0.262000	0.23990	0.007000	0.07825	0.0:0.48:0.52:0.0	5.647	0.16875	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001017	0.005263	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.02632	1500.33	41	chr6	16327702	.	C	A	1500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.027;DP=1074;ExcessHet=0;FS=0.884;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.74;ReadPosRankSum=0.255;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,39:76:99:1|0:16327666_C_A:1514,0,1436:16327666	18	0	1	0
chr6	16327708	16327708	C	A	exonic	ATXN1	.	nonsynonymous SNV	ATXN1:NM_001128164:exon7:c.G603T:p.Q201H,ATXN1:NM_000332:exon8:c.G603T:p.Q201H	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2687397	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.0195765690451	0.0005	0.000399361	0.0001	0.0015	0.0004	0	0	0	0	0	0.0001358	21	154602	rs372349437	5.098e-05	5.544e-05	6.444e-05	3.738e-05	0.0010	4.154e-05	3.805e-05	0.0007	0.0006	0.0010	0.0003	0	7.59e-05	0	0	1.261e-05	9.992e-05	5.812e-05	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0009	0.0008	0.0012	0	0.0002	0	0	0	0	1.471e-05	0.0005	0	0.177	0.22224	T	0.025	0.56192	D	0.704	0.41950	P	0.043	0.24256	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.29	0.58897	T	0.16	0.05217	N	0.252	0.28498	-1.0851	0.06389	T	0.028	0.12147	T	9	0.015770197	0.00331	T	0.019577	0.41979	T	0.054	0.15330	0.253	0.19223	0.791448815494	0.78951	0.41637605423121504	0.41553	0.386732587604	0.39963	0.358750879765	0.19203	T	0.322991	0.69394	T	-0.0910873	0.37897	T	-0.368617	0.37051	T	0.0350178840371058	0.02812	T	0.293771	0.05407	T	0.075309716	0.16959	0.09972201	0.23820	0.075309716	0.16959	0.09972201	0.23819	-6.847	0.52908	T	.	.	0.138	0.30184	B	.;.	.;.	0.555634	0.09243	6.024	0.96362305732935738	0.29553	0.16279	0.19315	N	AEFBI	0.040683	0.06085	N	-0.716609019470378	0.15554	0.7849276	-0.790208606574818	0.14735	0.7714717	0.128516304171016	0.17041	0.372202	0.05800	0	0.379588	0.06130	0	0.578056	0.29568	0	0.491896	0.07777	0	.	.	1.82	0.924	0.18544	-0.166000	0.09943	0.202000	0.15863	0.295000	0.18837	0.664000	0.28295	0.996000	0.32793	0.067000	0.16453	0.0:0.7752:0.0:0.2248	4.028	0.09180	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1494.33	41	chr6	16327708	.	C	A	1494.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.28;DP=1074;ExcessHet=0;FS=1.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.19;ReadPosRankSum=-0.354;SOR=1.009	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,39:74:99:1|0:16327666_C_A:1508,0,1352:16327666	18	0	1	0
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:38,17:55:16:16,0,520	7	0	12	0
chr6	28435906	28435906	T	C	exonic	ZSCAN23	.	nonsynonymous SNV	ZSCAN23:NM_001012455:exon2:c.A361G:p.T121A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00108397699204	.	0.000798722	0.0008	0	0.0003	0.0001	0	9.191e-05	0.0012	0.0055	0.0006339	98	154602	rs369000893	0.0003	0.0003	0.0002	0.0005	0.0044	0.0003	0.0003	0.0040	0.0038	0	0.0007	0.0009	2.519e-05	0	0.0003	2.339e-05	0.0005	0.0044	0.0002	0.0002	0.0002	0.0003	0.0052	0.0002	0.0001	0.0036	0.0031	0	0	0.0003	0.0009	0	0	0	2.941e-05	0	0.0052	0.237	0.17881	T	0.127	0.35082	T	0.003	0.11197	B	0.003	0.08700	B	0.133222	0.18558	N	0.440957	1	0.08975	N	0.48	0.13178	N	3.44	0.05375	T	-2.73	0.58085	D	0.126	0.11912	-0.9278	0.44458	T	0.003	0.00832	T	10	0.007630825	0.00173	T	0.001084	0.01263	T	0.072	0.21020	.	.	0.250039746154	0.24611	0.16612402364398482	0.16532	0.255294500027	0.28121	0.462987750769	0.33720	T	0.02166	0.16829	T	-0.711602	0.00031	T	-0.79454	0.02042	T	0.0112087393638528	0.00165	T	0.391661	0.09743	T	0.08947653	0.20906	0.07341964	0.15953	0.08947653	0.20906	0.07341964	0.15953	-3.845	0.21478	T	.	.	0.119	0.24363	B	.	.	0.882319	0.12556	9.084	0.92495483802694345	0.21931	0.01064	0.03948	N	AEFBI	0.043401	0.06855	N	-1.06657423351384	0.07266	0.337027	-1.06001535151735	0.08498	0.4181905	0.00441953795529767	0.10545	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.62	-0.255	0.12346	-0.259000	0.08742	-2.175000	0.04103	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.999000	0.91618	0.0:0.2379:0.2195:0.5426	3.407	0.06921	624	0.65661	SCAN domain|SCAN domain|SCAN domain|SCAN domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1853.33	39	chr6	28435906	.	T	C	1853.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=861;ExcessHet=0;FS=3.664;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.641;SOR=0.613	GT:AD:DP:GQ:PL	0/1:89,73:162:99:1867,0,2293	18	0	1	0
chr6	29087019	29087019	G	A	exonic	OR2B3	.	nonsynonymous SNV	OR2B3:NM_001005226:exon1:c.C230T:p.T77I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00178951095871	.	.	1.647e-05	0	0	0.0002	0	0	0	0	1.29e-05	2	154602	rs767546356	2.052e-06	2.052e-06	2.723e-06	1.375e-06	7.557e-05	5.5e-07	1.5e-07	2.004e-05	1.055e-05	0	0	0	7.557e-05	0	0	0	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.684	0.04379	T	0.989	0.02371	T	0.034	0.20480	B	0.038	0.23361	B	0.022170	0.26687	U	0.174125	1	0.08975	N	0.01	0.07948	N	5.88	0.00632	T	-1.91	0.44471	N	0.077	0.05162	-0.9952	0.31245	T	0.000	0.00152	T	10	0.04743159	0.04060	T	0.00179	0.03063	T	0.055	0.15663	0.236	0.16608	0.297375071883	0.29337	0.22651449912282642	0.22566	0.0205895813288	0.02023	0.257685065269	0.04620	T	0.033019	0.22737	T	-0.471765	0.00829	T	-0.689733	0.06404	T	0.0444200623901237	0.04497	T	.	.	.	0.054559406	0.10483	0.12587725	0.30323	0.054559406	0.10483	0.12587725	0.30322	-4.602	0.32197	T	.	.	0.121	0.24967	B	.	.	0.937697	0.13134	9.634	0.36054590991674468	0.02298	0.01097	0.04030	N	AEFI	0.026261	0.01940	N	-0.874775260295911	0.11446	0.5523445	-0.739472399175385	0.15981	0.8432277	5.28764911934318E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.9	3.02	0.33970	-0.520000	0.06338	.	.	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.3021:0.0:0.6979:0.0	6.838	0.23132	754	0.51307	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	92.83	34	chr6	29087019	.	G	A	92.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-4.414;DP=1018;ExcessHet=0.119;FS=206.183;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=1.07;SOR=7.824	GT:AD:DP:GQ:PL	0/1:153,17:173:25:25,0,5424	17	0	2	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	17121.2	166	chr6	29942948	.	C	*	17121.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.31;DP=1939;ExcessHet=0.0278;FS=7.294;InbreedingCoeff=0.4154;MLEAC=2;MLEAF=0.053;MQ=58.43;MQRankSum=-2.807;QD=19.84;ReadPosRankSum=-0.141;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,18:134:99:0|1:29942911_A_G:407,0,4817:29942911	17	0	2	0
chr6	29943300	29943300	G	C	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon3:c.G376C:p.D126H,HLA-A:NM_002116:exon3:c.G376C:p.D126H	.	0	1474	41	7	0	55	0.018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	.	0.0023	0.00698882	0.0051	0.0010	0.0034	0.0081	0.0047	0.0043	0.0090	0.0095	0.0039391	609	154602	rs199474490	0.0044	0.0043	0.0039	0.0048	0.0188	0.0043	0.0042	0.0146	0.0131	0.0015	0.0042	0.0301	0.0069	0.0030	0.0188	0.0028	0.0066	0.0141	0.0009	0.0036	0.0008	0.0009	0.0046	0.0007	0.0006	0.0020	0.0014	0.0003	0	0.0009	0.0144	0.0027	0.0008	0	0.0004	0.0014	0.0046	0.003	0.68238	D	0.018	0.59732	D	0.022	0.90584	B	0.529	0.97372	P	0.126621	0.02772	U	13.091800	0.671307	0.30362	N	.	.	.	5.38	0.01033	T	-4.99	0.83092	D	0.284	0.32701	-1.0870	0.06048	T	0.018	0.07282	T	10	0.008825779	0.00200	T	.	.	.	0.166	0.42578	.	.	0.648470103757	0.64555	0.24578017633699462	0.24492	0.273103400774	0.29815	0.344277799129	0.17075	T	0.036046	0.23955	T	-0.392348	0.02598	T	-0.335542	0.40848	T	0.0927495050700933	0.11540	T	0.146985	0.01214	T	0.6519732	0.75469	0.672446	0.80775	0.6519732	0.75471	0.672446	0.80776	-9.897	0.73292	D	.	.	0.260	0.51985	B	.;.;.;.;.	.;.;.;.;.	2.785315	0.36596	20.3	0.96876741612568884	0.31442	0.55369	0.29847	D	AEFDBHCIJ	0.695273	0.65400	D	0.145546896504087	0.48600	3.070395	0.0174266624164014	0.40524	2.419858	0.999999991545664	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	3.78	2.87	0.32523	2.151000	0.41888	.	.	-0.356000	0.05535	0.599000	0.27739	0.000000	0.08366	0.007000	0.07825	0.0:0.1918:0.8082:0.0	10.996	0.46792	862	0.33134	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017935	0.005376	0.020492	0.032110	0.000000	0.017544	0.018634	0.011364	0.05263	3571.83	102	chr6	29943300	.	G	C	3571.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.03;DP=2298;ExcessHet=0.119;FS=0.955;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.93;MQRankSum=0;QD=13.28;ReadPosRankSum=1.15;SOR=0.625	GT:AD:DP:GQ:PL	0/1:67,61:128:99:2210,0,2630	17	0	2	0
chr6	30071298	30071298	T	C	exonic	RNF39	.	nonsynonymous SNV	RNF39:NM_025236:exon4:c.A1076G:p.E359G	.	425	1056	36	5	0	46	0.021316	.	.	.	2822805	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.069	.	0.0013	0.00698882	0.0043	0.0010	0.0025	0.0058	0.0043	0.0037	0.0076	0.0124	0.0024967	386	154602	rs200705517	0.0026	0.0025	0.0023	0.0028	0.0145	0.0025	0.0024	0.0119	0.0109	0.0008	0.0022	0.0202	0.0034	0.0036	0.0145	0.0015	0.0044	0.0109	0.0027	0.0027	0.0026	0.0028	0.0095	0.0025	0.0024	0.0074	0.0066	0.0006	0	0.0025	0.0225	0.0095	0.0043	0.0238	0.0018	0.0033	0.0093	0.348	0.12386	T	0.372	0.16376	T	0.0	0.02946	B	0.006	0.12133	B	0.461370	0.12387	N	0.660669	1	0.08975	N	0.1	0.08449	N	-0.52	0.70717	T	-0.77	0.21429	N	0.032	0.00825	-1.0294	0.20649	T	0.073	0.29610	T	9	0.0051576495	0.00112	T	.	.	.	0.069	0.20116	.	.	0.32980341726	0.32591	0.4892985979737355	0.48849	1.33213483434	0.83669	0.746568977833	0.73940	T	5.78E-4	0.00232	T	-0.576066	0.00204	T	-0.594988	0.13237	T	0.0012265302896953	0.00012	T	.	.	.	0.053899508	0.10267	0.11954944	0.28855	0.053899508	0.10267	0.11954944	0.28854	-2.098	0.03575	T	.	.	0.049	0.00112	B	.	.	1.341678	0.17480	13.19	0.79342732161236129	0.12699	0.01186	0.04246	N	AEFBHCI	0.023291	0.01277	N	-0.956425136926051	0.09549	0.4524285	-0.941654056973241	0.11117	0.5644133	0.999988199632191	0.51787	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.01	3.13	0.35090	-0.908000	0.04171	.	.	-0.374000	0.05429	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.8866:0.0:0.1134	9.058	0.35578	862	0.33134	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.015917	0.005319	0.017663	0.032258	0.000000	0.017544	0.015432	0.011364	0.05263	2170.83	60	chr6	30071298	.	T	C	2170.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=822;ExcessHet=0.119;FS=1.122;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.734;SOR=0.747	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1464,0,1187	17	0	2	0
chr6	30602902	30602910	GGACCCCCT	-	exonic	PPP1R10	.	nonframeshift deletion	PPP1R10:NM_001376195:exon18:c.1893_1901del:p.G635_P637del,PPP1R10:NM_002714:exon18:c.1893_1901del:p.G635_P637del	.	322	1177	23	0	0	23	0.00967606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.00758786	0.0072	0.0114	0.0194	0.0013	0	0.0106	0.0140	0.0012	0.0018057	47	26028	rs567936494	0.0073	0.0073	0.0074	0.0072	0.0265	0.0072	0.0072	0.0230	0.0217	0.0088	0.0103	0.0095	0	0.0008	0.0265	0.0079	0.0096	0.0015	0.0092	0.0092	0.0099	0.0084	0.0118	0.0088	0.0086	0.0109	0.0106	0.0118	0.0011	0.0112	0.0092	0	0.0005	0.0340	0.0095	0.0161	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3276.79	35	chr6	30602901	.	AGGACCCCCT	A	3276.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.24;DP=794;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=1.32;SOR=0.724	GT:AD:DP:GQ:PL	0/1:43,53:96:99:2057,0,1640	17	0	2	0
chr6	30948868	30948868	G	A	exonic	MUCL3	.	nonsynonymous SNV	MUCL3:NM_080870:exon2:c.G404A:p.R135Q	.	435	1049	35	3	0	41	0.0191678	.	.	.	699512	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.029	.	.	0.0179712	0.0091	0.0216	0.0053	0.0351	0	0.0055	0.0053	0.0079	0.002348	363	154602	rs138097862	0.0034	0.0032	0.0032	0.0035	0.0187	0.0033	0.0032	0.0174	0.0169	0.0187	0.0067	0.0156	0.0032	0.0007	0.0149	0.0020	0.0067	0.0094	0.0098	0.0099	0.0100	0.0096	0.0241	0.0094	0.0092	0.0229	0.0224	0.0241	0	0.0097	0.0167	0.0079	0.0011	0.0204	0.0023	0.0118	0.0095	.	.	.	0.432	0.13634	T	0.44	0.35893	B	0.045	0.24526	B	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-0.52	0.16187	N	0.085	0.06190	-1.0439	0.16148	T	0.019	0.07986	T	9	0.0025999844	0.00040	T	.	.	.	0.029	0.06676	.	.	0.0551355673512	0.04727	0.04992561851155333	0.04935	0.650893596969	0.58354	0.174204036593	0.00052	T	0.008933	0.08161	T	-0.707615	0.00033	T	-0.771631	0.02715	T	0.00280118655006875	0.00029	T	0.590441	0.21717	T	0.030029949	0.02596	0.056276534	0.10024	0.030029949	0.02596	0.056276534	0.10024	-3.212	0.12628	T	.	.	0.134	0.29060	B	.;.;.	.;.;.	0.292356	0.06685	3.190	0.99416840104999804	0.63549	0.01466	0.04894	N	AEFDBI	0.028361	0.02483	N	-1.02887427196756	0.08008	0.3740068	-1.13747317801151	0.06995	0.3386411	0.972439218232666	0.29371	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.41	-1.61	0.07951	-0.182000	0.09720	.	.	-0.161000	0.11593	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.6545:0.0:0.3455:0.0	8.690	0.33421	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	1	0	0.017668	0.024691	0.000000	0.015625	0.000000	0.111111	0.018987	0.012821	0.05263	3411.83	126	chr6	30948868	.	G	A	3411.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.63;DP=996;ExcessHet=0.119;FS=2.616;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-0.02;SOR=0.554	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1477,0,1706	17	0	2	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	108983.0	539	chr6	31028713	.	C	*	108983.0	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.452;DP=12714;ExcessHet=1.1637;FS=0.523;InbreedingCoeff=-0.0192;MLEAC=2;MLEAF=0.053;MQ=59.97;MQRankSum=0.975;QD=16.64;ReadPosRankSum=-0.045;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,337:732:99:0|1:31028713_C_*:29731,15825,15156:31028713	17	0	2	0
chr6	31029828	31029828	A	0	exonic	MUC22	.	.	.	.	423	969	80	0	50	130	0.0396432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2971.99	539	chr6	31029828	.	A	*	2971.99	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.683;DP=11989;ExcessHet=0.7564;FS=0.678;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=59.4;MQRankSum=-12.98;QD=0.84;ReadPosRankSum=-8.38;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:745,302:1047:99:0|1:31029812_T_G:2736,0,30165:31029812	15	0	3	1
chr6	31029836	31029839	TGTA	0	exonic	MUC22	.	.	.	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2348.25	539	chr6	31029836	.	TGTA	*	2348.25	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.958;DP=11899;ExcessHet=0.3672;FS=1.435;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.059;MQ=59.42;MQRankSum=-14.25;QD=0.89;ReadPosRankSum=-9.982;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:745,302:1047:99:0|1:31029812_T_G:2736,0,30165:31029812	15	0	2	2
chr6	31029847	31029847	T	0	exonic	MUC22	.	.	.	.	427	1042	49	0	4	53	0.0229723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	858.99	539	chr6	31029847	.	T	*	858.99	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-1.771;DP=11916;ExcessHet=0.7564;FS=0.71;InbreedingCoeff=-0.1343;MLEAC=3;MLEAF=0.083;MQ=59.4;MQRankSum=-17.12;QD=0.25;ReadPosRankSum=-10.45;SOR=0.58	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:726,302:1028:99:0|1:31029812_T_G:2790,0,29801:31029812	15	0	3	1
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	0.2368	18619.8	199	chr6	31270002	.	C	T	18619.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.347;DP=3202;ExcessHet=5.3738;FS=0.521;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=59.06;MQRankSum=-0.866;QD=12.62;ReadPosRankSum=-0.528;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,63:159:99:0|1:31269990_T_C:2356,0,3841:31269990	10	0	9	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	0.2368	7474.82	61	chr6	31270250	.	C	A	7474.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.055;DP=1875;ExcessHet=5.3738;FS=5.544;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=52.1;MQRankSum=-2.734;QD=9.82;ReadPosRankSum=-1.702;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,29:137:99:0|1:31270154_CAGA_C:893,0,4448:31270154	10	0	9	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	3519.96	21	chr6	31356431	.	G	*	3519.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.34;DP=961;ExcessHet=2.8292;FS=1.184;InbreedingCoeff=-0.1474;MLEAC=14;MLEAF=0.368;MQ=56.06;MQRankSum=-1.664;QD=4.03;ReadPosRankSum=0.13;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,47:55:99:0|1:31356399_C_G:2309,336,194:31356399	7	2	10	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4067.47	43	chr6	31356716	.	CA	*	4067.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.25;DP=1047;ExcessHet=0.3394;FS=8.086;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.03;MQRankSum=-6.682;QD=5.84;ReadPosRankSum=-0.53;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,29:63:99:0|1:31356711_C_CGGAG:1115,0,1340:31356711	11	2	6	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	4133.47	43	chr6	31356719	.	GT	*	4133.47	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.13;DP=1058;ExcessHet=0.3394;FS=7.971;InbreedingCoeff=0.1815;MLEAC=10;MLEAF=0.263;MQ=53.9;MQRankSum=-7.228;QD=5.85;ReadPosRankSum=-1.34;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,31:65:99:0|1:31356711_C_CGGAG:1187,0,1334:31356711	11	2	6	0
chr6	31356720	31356720	T	0	exonic	HLA-B	.	.	.	.	2	80	21	0	123	144	0.116022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	2127.41	43	chr6	31356720	.	T	*	2127.41	.	AC=12;AF=0.333;AN=36;DP=1057;ExcessHet=0.0278;FS=7.087;InbreedingCoeff=0.3681;MLEAC=12;MLEAF=0.333;MQ=55.52;QD=3.57;SOR=1.198	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,31:65:99:0|1:31356711_C_CGGAG:1187,0,1334:31356711	9	3	6	1
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,100:100:99:1|1:31356739_C_A:4500,301,0:31356739	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,163:163:99:1|1:31356809_C_T:7305,491,0:31356809	3	7	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,25:63:99:1|0:31412383_TG_T:3014,1625,1497:31412383	7	1	11	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,47:171:99:0|1:31625601_T_C:795,0,3942:31625601	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,48:167:99:0|1:31625601_T_C:993,0,3701:31625601	1	0	16	2
chr6	31631671	31631671	A	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon16:c.A2998C:p.N1000H,PRRC2A:NM_080686:exon16:c.A2998C:p.N1000H	.	413	1108	1	0	0	1	0.00045106	.	.	.	3379970	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0107232713958	0.0002	.	0.0001	0	0	0	0	0.0002	0.0015	0	9.7e-05	15	154602	rs199521668	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0002	8.224e-05	0	0	0.0040	0	0	0.0006	7.326e-05	0.0003	0	0.0002	0.0002	8.999e-05	0.0002	0.0002	0.0001	8.724e-05	0.0001	7.898e-05	0	0	0	0.0026	0	0	0	0.0002	0.0010	0	0.04	0.42199	D	0.208	0.26883	T	0.0	0.02946	B	0.001	0.04355	B	0.057735	0.22457	N	0.428248	1	0.08975	N	0	0.06538	N	4.55	0.01948	T	-0.85	0.23156	N	0.11	0.09631	-0.8972	0.48273	T	0.002	0.00526	T	10	0.009396374	0.00212	T	0.010723	0.27578	T	0.035	0.08770	.	.	0.043077524339	0.03247	0.07657374073598412	0.07593	0.161090804594	0.18180	0.338251024485	0.16175	T	0.005855	0.05296	T	-0.532229	0.00373	T	-0.727987	0.04419	T	0.0099070177289876	0.00131	T	0.69903	0.30897	T	0.050632093	0.09178	0.047196012	0.06744	0.050632093	0.09177	0.047196012	0.06744	-4.701	0.33416	T	.	.	0.070	0.07554	B	.;.	.;.	1.397756	0.18111	13.56	0.72357163916497147	0.09945	0.42591	0.26912	N	AEFDBCI	0.126487	0.24345	N	-0.666395832492222	0.16984	0.8701486	-0.55669732180391	0.20628	1.112254	0.991444588093334	0.32491	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.2	1.6	0.22686	1.953000	0.39977	.	.	0.747000	0.86732	0.572000	0.27522	0.004000	0.18990	0.528000	0.29660	0.6393:0.0:0.3607:0.0	7.131	0.24682	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1139.33	36	chr6	31631671	.	A	C	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.992;DP=740;ExcessHet=0;FS=2.696;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=1.13;SOR=0.439	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1153,0,1208	18	0	1	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	0.05263	5178.79	38	chr6	31954625	.	TCGATCC	T	5178.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.78;DP=1081;ExcessHet=0.119;FS=0.424;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.71;ReadPosRankSum=0.756;SOR=0.645	GT:AD:DP:GQ:PL	0/1:99,69:168:99:2507,0,3922	17	0	2	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	493.65	225	chr6	32443853	.	C	G	493.65	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.718;DP=3186;ExcessHet=0.7564;FS=285.125;InbreedingCoeff=-0.1324;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=1.58;SOR=11.58	GT:AD:DP:GQ:PL	0/1:142,35:200:72:72,0,3207	15	0	4	0
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	4391.26	169	chr6	32522104	.	G	*	4391.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.87;DP=2472;ExcessHet=5.3738;FS=13.689;InbreedingCoeff=-0.3098;MLEAC=7;MLEAF=0.184;MQ=44.54;MQRankSum=5.13;QD=5.09;ReadPosRankSum=5.61;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,21:55:99:0|1:32522075_A_G:779,0,1299:32522075	12	0	7	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	44319.5	174	chr6	32522156	.	T	*	44319.5	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.806;DP=2448;ExcessHet=0.2833;FS=5.16;InbreedingCoeff=0.1857;MLEAC=7;MLEAF=0.184;MQ=51.87;MQRankSum=-12.7;QD=19.52;ReadPosRankSum=2.12;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,41:72:99:0|1:32522156_T_*:3023,1302,1178:32522156	11	0	8	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10272.1	171	chr6	32522157	.	C	*	10272.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.368;DP=2422;ExcessHet=1.0106;FS=0.579;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.84;MQRankSum=-11.54;QD=6.02;ReadPosRankSum=1.85;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,41:72:99:0|1:32522156_T_*:3023,1302,1178:32522156	12	0	7	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10338.1	171	chr6	32522159	.	T	*	10338.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.296;DP=2407;ExcessHet=1.0106;FS=1.216;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.76;MQRankSum=-11.38;QD=6.16;ReadPosRankSum=2.19;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,42:73:99:0|1:32522156_T_*:3090,1305,1175:32522156	12	0	7	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:32530183_CTT_C:2070,138,0:32530183	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:32530183_CTT_C:2070,138,0:32530183	2	5	11	1
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	26525.4	396	chr6	32584171	.	G	*	26525.4	.	AC=8;AF=0.25;AN=32;BaseQRankSum=2.71;DP=4029;ExcessHet=3.0446;FS=0;InbreedingCoeff=-0.0795;MLEAC=9;MLEAF=0.281;MQ=53.9;MQRankSum=3.91;QD=8.9;ReadPosRankSum=-0.971;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,105:190:99:0|1:32584134_C_A:4153,0,3253:32584134	8	0	8	3
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	36894.9	402	chr6	32584177	.	CG	*	36894.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=3.25;DP=4323;ExcessHet=5.5644;FS=1.8;InbreedingCoeff=-0.2667;MLEAC=11;MLEAF=0.289;MQ=53.78;MQRankSum=2.42;QD=9.69;ReadPosRankSum=0.473;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,76:196:99:0|1:32584134_C_A:8155,5000,4771:32584134	10	2	7	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	8530.17	402	chr6	32584178	.	G	*	8530.17	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.31;DP=4315;ExcessHet=3.6106;FS=1.159;InbreedingCoeff=-0.1709;MLEAC=18;MLEAF=0.474;MQ=53.54;MQRankSum=-3.51;QD=2.37;ReadPosRankSum=0.706;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,120:196:99:0|1:32584134_C_A:4991,0,212:32584134	3	2	14	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,186:307:99:0|1:32584366_C_T:13116,5093,4516:32584366	3	0	15	1
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92:92:99:1|1:32641430_C_T:4140,277,0:32641430	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92:92:99:1|1:32641430_C_T:4140,277,0:32641430	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,88:88:99:1|1:32641430_C_T:3960,265,0:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,88:88:99:1|1:32641430_C_T:3960,265,0:32641430	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,77:77:99:1|1:32641476_G_A:3465,232,0:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79:79:99:1|1:32641476_G_A:3448,238,0:32641476	4	4	11	0
chr6	33315710	33315710	T	C	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.A1207G:p.T403A,ZBTB22:NM_005453:exon2:c.A1207G:p.T403A	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00318948077297	0.0009	.	0.0002	0.0022	0	0	0	0	0	0	0.0001552	24	154602	rs138395717	5.41e-05	5.404e-05	6.677e-05	4.13e-05	0.0017	4.415e-05	4.086e-05	0.0014	0.0012	0.0017	2.239e-05	0	0	0	0.0007	1.8e-06	0.0002	3.485e-05	0.0004	0.0004	0.0003	0.0005	0.0014	0.0003	0.0003	0.0012	0.0010	0.0014	0	0	0	0	0	0	0	0.0005	0	0.152	0.24468	T	0.794	0.04142	T	0.0	0.02946	B	0.001	0.04355	B	0.065659	0.21866	N	0.235203	0.955082	0.37908	D	0.805	0.20218	L	3.38	0.05778	T	-0.35	0.12847	N	0.059	0.03069	-0.9335	0.43620	T	0.003	0.01026	T	10	0.0066327155	0.00150	T	0.003189	0.06996	T	0.030	0.07022	.	.	0.274366138417	0.27033	0.12685700678358403	0.12611	0.558678093694	0.52439	0.530081927776	0.43046	T	0.004044	0.03453	T	-0.664827	0.00059	T	-0.733612	0.04166	T	0.00950929712651575	0.00123	T	0.408059	0.10511	T	0.036880933	0.04622	0.06600689	0.13458	0.036880933	0.04622	0.06600689	0.13458	-2.554	0.06161	T	.	.	0.085	0.11124	B	.;.	.;.	0.899611	0.12735	9.254	0.95572106565661663	0.27265	0.06063	0.12034	N	AEFBCI	0.048388	0.08253	N	-0.65493772815864	0.17316	0.8900263	-0.50886949861053	0.21911	1.187623	0.999985118769923	0.51787	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.09	2.92	0.32998	-0.090000	0.11129	0.821000	0.21853	-0.118000	0.14412	0.000000	0.06391	0.883000	0.27730	0.975000	0.56047	0.0:0.1324:0.2468:0.6208	3.292	0.06544	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	.	.	.	.	.	.	.	.	0.02632	1142.33	39	chr6	33315710	.	T	C	1142.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=813;ExcessHet=0;FS=3.761;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.998;SOR=1.14	GT:AD:DP:GQ:PL	0/1:64,42:106:99:1156,0,1682	18	0	1	0
chr6	33406837	33406837	G	A	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon10:c.G1939A:p.V647I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0116608512489	0.0015	0.000399361	0.0009	0.0022	0	0	0.0044	0.0008	0.0022	0	0.0007956	123	154602	rs145707165	0.0008	0.0008	0.0009	0.0008	0.0018	0.0008	0.0008	0.0014	0.0013	0.0018	4.472e-05	0	0	0.0038	0.0007	0.0008	0.0007	3.478e-05	0.0011	0.0011	0.0008	0.0014	0.0014	0.0010	0.0009	0.0011	0.0010	0.0014	0	6.54e-05	0	0	0.0053	0	0.0008	0.0005	0	0.153	0.24372	T	0.113	0.36901	T	0.072	0.23997	B	0.022	0.19653	B	0.001298	0.39521	N	0.246428	0.809731	0.29015	N	0.145	0.08828	N	-0.89	0.74793	T	0.51	0.02898	N	0.083	0.05929	-1.0768	0.07983	T	0.074	0.30023	T	10	0.006282568	0.00142	T	0.011661	0.29506	T	0.066	0.19193	.	.	0.652782900136	0.64989	0.5415477893592484	0.54079	0.317553365187	0.33995	0.334346950054	0.15589	T	0.06723	0.33148	T	-0.529028	0.00389	T	-0.538546	0.18440	T	0.0248936144753424	0.01258	T	.	.	.	0.052440237	0.09781	0.04873134	0.07301	0.052440237	0.09781	0.04873134	0.07300	-4.683	0.33197	T	.	.	0.065	0.01986	B	.	.	1.318817	0.17227	13.04	0.9778578039393937	0.35963	0.67775	0.33555	D	AEFDBCI	0.104988	0.20991	N	-0.682509894182362	0.16520	0.8424238	-0.561936772333299	0.20490	1.104131	0.99966098190137	0.41534	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.09	-1.05	0.09523	0.510000	0.22430	0.630000	0.20219	-0.106000	0.15538	0.964000	0.33853	0.000000	0.08366	0.963000	0.52385	0.2854:0.0:0.2625:0.4521	3.903	0.08670	365	0.84644	Kinesin motor domain|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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1410.33	33	chr6	33406837	.	G	A	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.39;DP=752;ExcessHet=0;FS=3.295;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=-0.731;SOR=1.037	GT:AD:DP:GQ:PL	0/1:74,54:128:99:1424,0,1784	18	0	1	0
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,25:56:99:.:.:198,0,407:.	3	0	11	5
chr6	41282505	41282505	C	T	exonic	TREM1	.	nonsynonymous SNV	TREM1:NM_001242589:exon2:c.G296A:p.R99Q,TREM1:NM_001242590:exon2:c.G296A:p.R99Q,TREM1:NM_018643:exon2:c.G296A:p.R99Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00343310702594	.	.	8.243e-06	0	8.657e-05	0	0	0	0	0	6.5e-06	1	154602	rs752468178	2.189e-05	2.189e-05	1.77e-05	2.613e-05	5.797e-05	1.584e-05	1.356e-05	2.194e-05	1.43e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	2.068e-05	0	5.797e-05	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	1.0	0.02613	T	0.842	0.03589	T	0.023	0.21357	B	0.005	0.11217	B	0.859765	0.07109	N	1.088660	1	0.08975	N	-0.525	0.02545	N	-0.15	0.65192	T	0.04	0.06488	N	0.087	0.06454	-0.9778	0.35503	T	0.029	0.12365	T	10	0.06318608	0.08194	T	0.003433	0.07725	T	0.093	0.26882	0.573	0.69695	0.0401082797425	0.02173	0.2582845785924367	0.25742	0.120092207634	0.13526	0.191363751888	0.00250	T	0.067622	0.33250	T	-0.436828	0.01350	T	-0.683721	0.06759	T	0.0428376022973071	0.04207	T	0.714629	0.33277	T	0.19559464	0.41354	0.12976319	0.31194	0.19559464	0.41354	0.12976319	0.31194	-6.438	0.51448	T	.	.	0.077	0.07036	B	.;.;.;.	.;.;.;.	-2.235980	0.00059	0.001	0.37406905982666189	0.02463	0.00099	0.00643	N	AEFDBI	0.024840	0.01602	N	-2.03778886370417	0.00175	0.007510185	-2.12345069188203	0.00165	0.007278979	0.999999999871542	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.37	-8.74	0.00725	-4.203000	0.00312	-15.256000	0.00365	-2.965000	0.00148	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6661:0.1876:0.1463	12.636	0.56043	929	0.16858	Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3448.33	39	chr6	41282505	.	C	T	3448.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.38;DP=907;ExcessHet=0;FS=1.575;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.796;SOR=0.589	GT:AD:DP:GQ:PL	0/1:106,131:237:99:3462,0,2397	18	0	1	0
chr6	41786275	41786275	C	G	exonic	PRICKLE4	.	nonsynonymous SNV	PRICKLE4:NM_013397:exon7:c.C730G:p.R244G	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.623	.	0.0009	0.00139776	0.0021	0.0005	0.0007	0.0001	0.0002	0.0011	0.0151	0.0105	0.0017852	276	154602	rs141478229	0.0012	0.0012	0.0010	0.0015	0.0087	0.0012	0.0012	0.0082	0.0080	0.0002	0.0004	0	0.0016	3.776e-05	0.0042	0.0008	0.0015	0.0087	0.0008	0.0008	0.0007	0.0010	0.0072	0.0007	0.0007	0.0054	0.0047	0.0002	0	0.0007	0	0.0004	0	0.0034	0.0009	0.0024	0.0072	0.054	0.38633	T	0.073	0.92824	T	0.98	0.59353	D	0.851	0.60700	P	0.000157	0.49130	D	0.000000	0.997875	0.45339	D	2.95	0.84923	M	-2.33	0.87910	D	-3.78	0.73151	D	0.433	0.49602	0.177	0.85527	D	0.654	0.87943	D	10	0.010054141	0.00225	T	.	.	.	0.623	0.85406	.	.	0.846421303689	0.84494	0.7528875862469561	0.75235	1.28768444248	0.82705	0.457758158445	0.33003	T	0.478297	0.80817	T	-0.143665	0.29307	T	0.0275391	0.72118	D	0.041502370032788	0.03963	T	0.808019	0.46271	T	0.25619984	0.48658	0.21566667	0.46164	0.25619984	0.48658	0.21566667	0.46163	-9.845	0.75218	D	.	.	0.275	0.51959	B	.;.;.;.;.	.;.;.;.;.	4.105868	0.61261	24.3	0.99742598182372644	0.83629	0.97948	0.78351	D	AEFDGBCIJ	0.908582	0.86407	D	0.487249171461984	0.66346	4.938092	0.420087740558971	0.62819	4.503771	0.99999999999999	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.71	0.69187	0	.	.	4.81	4.81	0.61401	5.834000	0.69064	4.546000	0.43784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0:1.0:0.0:0.0	14.908	0.70381	455	0.79073	.;Zinc finger, LIM-type|Zinc finger, LIM-type;.;.;Zinc finger, LIM-type|Zinc finger, LIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	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	0.02632	1664.33	33	chr6	41786275	.	C	G	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=785;ExcessHet=0;FS=1.369;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.06;SOR=0.855	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1678,0,1651	18	0	1	0
chr6	41921815	41921815	C	T	exonic	BYSL	.	nonsynonymous SNV	BYSL:NM_004053:exon1:c.C253T:p.R85C	.	430	1064	25	3	0	31	0.0143585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0012	0.000998403	0.0033	0.0004	0.0006	0	0.0022	0.0021	0.0040	0.0134	0.0024515	379	154602	rs142676892	0.0023	0.0023	0.0019	0.0027	0.0119	0.0022	0.0022	0.0113	0.0110	0.0001	0.0008	0.0118	0.0001	0.0027	0.0051	0.0015	0.0025	0.0119	0.0016	0.0016	0.0014	0.0017	0.0094	0.0014	0.0013	0.0072	0.0064	0.0002	0	0.0009	0.0104	0	0.0018	0	0.0017	0.0005	0.0094	0.046	0.40573	D	0.162	0.31225	T	0.991	0.64070	D	0.17	0.35299	B	0.000012	0.62929	D	0.110760	0.999994	0.58761	D	1.355	0.33814	L	1.98	0.21865	T	-2.58	0.55662	D	0.282	0.31925	-1.0802	0.07310	T	0.021	0.08732	T	10	0.0051758587	0.00112	T	.	.	.	0.099	0.28413	.	.	0.567785321435	0.56442	0.24298961391334983	0.24212	0.704673459605	0.61344	0.429955482483	0.29202	T	0.254659	0.62534	T	-0.464834	0.00916	T	-0.43009	0.29925	T	0.0379310003893595	0.03320	T	0.868713	0.57175	D	0.20771629	0.42986	0.23594417	0.48851	0.20771629	0.42986	0.23594417	0.48850	-7.096	0.54732	T	.	.	0.160	0.35267	B	.	.	4.243020	0.64342	24.7	0.99914926308566154	0.98309	0.82492	0.41712	D	ALL	0.301666	0.41012	N	0.307123208435791	0.56515	3.81619	0.365717407789206	0.59460	4.124023	0.999999999999734	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.11	5.11	0.69188	1.697000	0.37402	4.849000	0.45357	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.921000	0.45669	0.1855:0.8145:0.0:0.0	11.018	0.46917	667	0.61242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003074	0.000000	0.001359	0.000000	0.000000	0.017241	0.003086	0.011450	0.02632	639.33	21	chr6	41921815	.	C	T	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.741;DP=570;ExcessHet=0;FS=1.478;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=-1.039;SOR=0.458	GT:AD:DP:GQ:PL	0/1:9,26:35:99:653,0,172	18	0	1	0
chr6	44286034	44286034	T	C	exonic	TCTE1	.	nonsynonymous SNV	TCTE1:NM_182539:exon3:c.A776G:p.N259S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.011126002251	.	0.000399361	1.649e-05	0	0.0002	0	0	0	0	0	2.59e-05	4	154602	rs185170524	7.537e-06	8.893e-06	6.818e-06	8.263e-06	0.0002	4.04e-06	2.96e-06	0.0001	0.0001	0	0.0002	0	0	0	0	0	0	0	3.291e-05	3.284e-05	1.288e-05	5.387e-05	0.0003	1.263e-05	7.99e-06	0.0001	8.294e-05	0	0	0.0003	0	0	0	0	0	0	0	0.454	0.10245	T	0.272	0.29249	T	0.217	0.30183	B	0.033	0.22329	B	0.000212	0.47681	D	0.248154	0.988777	0.81001	D	.	.	.	0.07	0.61677	T	-2.37	0.52289	N	0.118	0.12341	-1.0369	0.18264	T	0.074	0.29802	T	10	0.03868395	0.02304	T	0.011126	0.28436	T	0.133	0.36157	.	.	0.194818534648	0.19098	0.21681489854066419	0.21597	0.288202736158	0.31226	0.387309551239	0.23290	T	0.021205	0.16557	T	-0.360323	0.04112	T	-0.579508	0.14588	T	0.168698340654373	0.18492	T	0.846215	0.57103	T	0.06270953	0.13127	0.09149877	0.21516	0.06270953	0.13127	0.09149877	0.21515	-2.374	0.04976	T	.	.	0.127	0.37121	B	.;.	.;.	1.788838	0.22740	15.74	0.97498251412866666	0.34283	0.14150	0.18249	N	AEFBCI	0.229351	0.35289	N	-0.138695286523636	0.35716	2.055125	0.00331579402422016	0.39870	2.370523	0.012991485605714	0.12402	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	1.269000	0.32677	5.116000	0.47551	-0.117000	0.14459	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.079:0.0:0.921	10.600	0.44552	779	0.47767	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	74.01	156	chr6	44286034	.	T	C	74.01	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.846;DP=1365;ExcessHet=0.119;FS=88.176;InbreedingCoeff=-0.0544;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.28;ReadPosRankSum=2.22;SOR=7.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,14:106:81:.:.:81,0,3423:.	17	0	2	0
chr6	46168058	46168058	T	C	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_021572:exon2:c.A205G:p.I69V,ENPP5:NM_001290072:exon3:c.A205G:p.I69V	.	434	1052	34	2	0	38	0.0177404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	.	0.0067	0.00199681	0.0060	0.0014	0.0028	0	0.0095	0.0080	0.0188	0.0038	0.0057438	888	154602	rs34432940	0.0064	0.0064	0.0064	0.0064	0.0120	0.0063	0.0062	0.0097	0.0089	0.0009	0.0033	0.0203	0	0.0083	0.0120	0.0066	0.0069	0.0043	0.0054	0.0053	0.0052	0.0055	0.0067	0.0050	0.0049	0.0062	0.0060	0.0010	0.0822	0.0034	0.0159	0	0.0084	0.0068	0.0067	0.0076	0.0054	0.126	0.27194	T	0.262	0.22895	T	0.035	0.20614	B	0.05	0.25278	B	0.000000	0.84330	D	0.050250	0.865251	0.35461	D	0.505	0.13445	N	-0.63	0.72011	T	-0.4	0.13805	N	0.109	0.14338	-1.0707	0.09260	T	0.084	0.32986	T	10	0.012347043	0.00266	T	.	.	.	0.064	0.18567	.	.	0.414539908741	0.41071	0.7343181863062871	0.73376	0.18094129058	0.20352	0.522546648979	0.41984	T	0.020387	0.16063	T	-0.460545	0.00976	T	-0.430452	0.29884	T	0.00810857899410531	0.00097	T	0.870113	0.57479	D	0.18285523	0.39524	0.082540125	0.18846	0.18285523	0.39524	0.082540125	0.18846	-3.053	0.10763	T	.	.	0.090	0.12465	B	.;.	.;.	2.384533	0.30617	18.49	0.97518443837251167	0.34389	0.88442	0.48372	D	AEFBI	0.347263	0.44180	N	-0.328549877010341	0.28068	1.545102	-0.147359051158791	0.33510	1.917597	0.00111298835938549	0.08239	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.542086	0.14980	0	.	.	5.51	3.07	0.34476	2.590000	0.45819	2.848000	0.35122	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1187:0.1209:0.7604	8.028	0.29609	825	0.40060	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.010101	0.013587	0.002924	0.000000	0.025862	0.021341	0.018939	0.07895	4958.79	68	chr6	46168058	.	T	C	4958.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.61;DP=1446;ExcessHet=0.3672;FS=1.711;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.72;SOR=0.805	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1796,0,1636	16	0	3	0
chr6	49969615	49969615	A	T	exonic	DEFB113	.	nonsynonymous SNV	DEFB113:NM_001037729:exon1:c.T11A:p.L4H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00831367960519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.008	0.67890	D	0.996	0.68779	D	0.819	0.59018	P	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-3.75	0.71157	D	0.551	0.57690	-1.0554	0.12934	T	0.104	0.38243	T	6	0.45655888	0.59025	T	0.008314	0.22004	T	0.273	0.58883	0.439	0.49321	0.37281450598	0.36888	0.5210472359426864	0.52027	0.00420974053619	0.00371	0.460148900747	0.33331	T	0.078144	0.35823	T	0.00176929	0.51899	T	-0.235235	0.51263	T	0.730141758918762	0.42217	D	0.362864	0.08399	T	0.4414448	0.63496	0.46278054	0.68810	0.4414448	0.63496	0.46278054	0.68811	-8.143	0.62040	D	.	.	0.374	0.58048	A	.	.	3.220851	0.43878	21.8	0.97779039293483583	0.35919	0.19385	0.20640	N	AEFGI	0.062214	0.11946	N	-0.0138700101375934	0.41229	2.462264	-0.167508595992906	0.32740	1.865679	0.237607546325165	0.18535	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.06	4.06	0.46572	3.456000	0.52764	5.645000	0.49163	0.674000	0.70861	0.179000	0.24051	0.736000	0.26449	0.819000	0.38590	1.0:0.0:0.0:0.0	9.588	0.38691	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	980.33	40	chr6	49969615	.	A	T	980.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.134;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.612;SOR=0.719	GT:AD:DP:GQ:PL	0/1:42,45:87:99:994,0,1032	18	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	.	.	.	.	.	.	.	.	0.2727	2229.07	290	chr6	52403967	.	A	G	2229.07	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-4.146;DP=3105;ExcessHet=2.0135;FS=137.475;InbreedingCoeff=-0.336;MLEAC=7;MLEAF=0.318;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=2.7;SOR=10.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,57:243:99:.:.:902,0,6978:.	5	0	6	8
chr6	52403969	52403969	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C756G:p.I252M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.00775913706174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.151e-05	0.0026	3.041e-05	1.254e-05	6.052e-05	1.542e-05	1.343e-05	1.691e-05	1.449e-05	6.052e-05	0	0	0	0	0	2.47e-05	1.675e-05	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.13	0.34716	T	0.118	0.26577	B	0.14	0.33554	B	0.000025	0.55875	D	0.115163	0.892936	0.35993	D	.	.	.	1.55	0.29866	T	-1.48	0.36189	N	0.283	0.32037	-1.0538	0.13359	T	0.020	0.08593	T	9	0.124320894	0.23611	T	0.007759	0.20589	T	0.170	0.43303	0.517	0.61763	0.267299060538	0.26338	0.586538640297082	0.58583	0.48057550277	0.47073	0.721015810966	0.70195	T	0.080878	0.36467	T	-0.0535672	0.43903	T	-0.314722	0.43150	T	0.235945180058479	0.22232	T	0.821218	0.48050	T	0.14476812	0.33215	0.13295785	0.31893	0.14476812	0.33214	0.13295785	0.31892	-5.366	0.40591	T	.	.	0.261	0.50025	B	.;.	.;.	1.402312	0.18166	13.58	0.96333446261906064	0.29456	0.11428	0.16627	N	ALL	0.097766	0.19713	N	-0.570544328712899	0.19843	1.041757	-0.512454945959116	0.21814	1.181902	0.999999914802843	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.195	0.14431	-0.473000	0.06694	0.906000	0.22588	0.599000	0.40250	0.215000	0.24480	0.988000	0.31051	0.998000	0.85391	0.1925:0.4175:0.0:0.3899	5.139	0.14281	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08824	1704.79	284	chr6	52403969	.	C	G	1704.79	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-6.531;DP=2551;ExcessHet=1.3;FS=133.981;InbreedingCoeff=-0.1889;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=2.81;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:188,30:233:99:.:.:675,0,7069:.	14	0	3	2
chr6	52403970	52403970	C	G	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C757G:p.L253V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00348224358472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.968e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	0.156625	0.17794	N	0.568363	0.996179	0.23093	N	.	.	.	1.65	0.27650	T	-0.03	0.07444	N	0.044	0.01740	-0.9683	0.37551	T	0.013	0.05273	T	9	0.042198032	0.02945	T	0.003482	0.07878	T	0.090	0.26093	0.392	0.41606	0.285316908763	0.28143	0.43405932941727343	0.43322	0.378079884607	0.39231	0.363088190556	0.19835	T	0.057537	0.30593	T	-0.281738	0.10485	T	-0.642473	0.09489	T	0.0282962478868167	0.01731	T	0.712529	0.32403	T	0.043572016	0.06815	0.0388608	0.03850	0.043572016	0.06814	0.0388608	0.03849	-4.826	0.34893	T	.	.	0.076	0.05756	B	.;.	.;.	0.789462	0.11600	8.188	0.71478645488480796	0.09643	0.08993	0.14835	N	ALL	0.070025	0.13885	N	-0.645021285286078	0.17606	0.9073494	-0.553991212567468	0.20700	1.116454	0.999999888871553	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.64	0.156	0.14205	0.857000	0.27486	0.414000	0.18144	0.599000	0.40250	0.560000	0.27425	0.980000	0.30356	0.998000	0.85391	0.207:0.4109:0.2345:0.1476	2.509	0.04369	718	0.55760	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1176	1871.38	277	chr6	52403970	.	C	G	1871.38	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-6.051;DP=2559;ExcessHet=2.0135;FS=127.215;InbreedingCoeff=-0.225;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.46;ReadPosRankSum=3.09;SOR=10.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:186,30:231:99:.:.:681,0,7026:.	13	0	4	2
chr6	56992391	56992391	C	T	exonic	BEND6	.	nonsynonymous SNV	BEND6:NM_001318539:exon3:c.C134T:p.S45L,BEND6:NM_152731:exon3:c.C134T:p.S45L	.	435	1081	5	1	0	7	0.00322729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.00767949494686	0.0003	0.00119808	0.0008	0.0002	0.0005	0	0	0.0010	0.0022	0.0010	0.000815	126	154602	rs148443947	0.0007	0.0007	0.0007	0.0008	0.0129	0.0007	0.0007	0.0105	0.0097	0.0003	0.0006	0	0	1.875e-05	0.0129	0.0008	0.0009	0.0007	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0003	0.0005	0.0005	9.626e-05	0	0.0007	0	0	0	0.0068	0.0007	0.0028	0.0008	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.953	0.69275	D	0.000151	0.49130	D	0.000000	0.791609	0.34394	D	0.975	0.24501	L	.	.	.	-4.93	0.81755	D	0.705	0.70878	-0.6659	0.62013	T	0.196	0.55100	T	9	0.05468899	0.05863	T	0.007679	0.20378	T	0.209	0.49871	.	.	0.339793275041	0.33585	0.5619736486848813	0.56124	0.543278013511	0.51408	0.514629602432	0.40871	T	0.169957	0.51753	T	0.0380821	0.56794	T	0.225578	0.84454	D	0.0815516341902565	0.10185	T	0.939406	0.77188	D	0.2195903	0.44495	0.23824131	0.49141	0.2195903	0.44495	0.23824131	0.49140	-3.765	0.20282	T	.	.	0.200	0.42419	B	.;.;.	.;.;.	4.543590	0.71441	25.7	0.99892266710556354	0.96589	0.87917	0.47625	D	AEFI	0.482777	0.52350	N	0.472540568157499	0.65493	4.829409	0.45858294373591	0.65270	4.802634	0.999999990326865	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.95	4.95	0.64894	4.419000	0.59586	4.747000	0.44638	0.599000	0.40250	0.981000	0.35396	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	15.694	0.77235	225	0.91282	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.015152	0.016304	0.005848	0.000000	0.000000	0.006098	0.015152	0.02632	495.33	34	chr6	56992391	.	C	T	495.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.636;DP=635;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.159;SOR=1.14	GT:AD:DP:GQ:PL	0/1:17,19:36:99:509,0,394	18	0	1	0
chr6	65303834	65303834	G	A	exonic	LOC441155	.	nonsynonymous SNV	LOC441155:NM_001271675:exon2:c.G1313A:p.S438N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422370948	5.913e-06	3.475e-06	1.274e-05	0	3.757e-05	1.57e-06	4.4e-07	6.23e-06	2.33e-06	0	0	0	0	0	0	3.286e-06	0	3.757e-05	1.145e-05	2.023e-05	2.143e-05	0	2.255e-05	0	0	.	.	0	0	0	0	0	0	0	2.255e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	177.33	14	chr6	65303834	.	G	A	177.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.656;DP=379;ExcessHet=0;FS=4.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27;MQRankSum=0;QD=8.44;ReadPosRankSum=0.399;SOR=0.078	GT:AD:DP:GQ:PL	0/1:13,8:21:99:191,0,349	18	0	1	0
chr6	80007995	80007995	T	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.T326C:p.F109S,TTK:NM_003318:exon3:c.T326C:p.F109S	.	.	.	.	.	.	.	.	.	.	.	3487353	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.543	0.192901871488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0003	0.0003	0	4.221e-05	2.681e-05	0	0.0004	0.0003	6.299e-05	5.109e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.996	0.68779	D	0.818	0.58969	P	0.000000	0.84330	D	0.049019	0.843728	0.35108	D	2.43	0.70455	M	-2.42	0.88611	D	-3.24	0.89093	D	0.479	0.51851	0.418	0.89363	D	0.623	0.86718	D	10	0.7754053	0.77418	D	0.192902	0.86272	D	0.543	0.80960	0.667	0.80502	0.865703120749	0.86440	0.5142532410060754	0.51348	0.734343058358	0.62892	0.673589468002	0.63349	T	0.307771	0.67989	T	0.230199	0.76739	D	0.0928881	0.76438	D	0.992899179458618	0.83501	D	0.849815	0.59928	T	0.9145535	0.92723	0.74627006	0.85002	0.9145535	0.92724	0.74627006	0.85003	-11.553	0.82796	D	.	.	0.975	0.91596	P	.;.;.;.;.;.	.;.;.;.;.;.	5.252684	0.88193	29.5	0.99857276268218276	0.93639	0.93449	0.58247	D	AEFBI	0.664675	0.63376	D	0.634234699625658	0.75350	6.29074	0.657051414914333	0.79135	7.019207	0.999999781221271	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	5.66	0.87293	5.426000	0.66214	5.025000	0.46778	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.247:0.0:0.0:0.753	9.438	0.37819	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	.	.	.	.	.	.	.	.	0.05	2459.5	21	chr6	80007995	.	T	C	2459.5	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.037;DP=798;ExcessHet=15.1594;FS=240.59;InbreedingCoeff=-0.3379;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.27;ReadPosRankSum=2.01;SOR=10.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,18:52:99:0|1:80007992_G_C:404,0,1060:80007992	9	0	1	9
chr6	89265642	89265642	C	T	exonic	GABRR2	.	nonsynonymous SNV	GABRR2:NM_002043:exon7:c.G860A:p.R287H	.	419	1097	5	1	0	7	0.00318037	.	.	.	2253864	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0156123209126	0.0004	0.000399361	0.0005	9.61e-05	0.0008	0	0	0.0006	0.0011	0.0005	0.0005045	78	154602	rs74529557	0.0004	0.0004	0.0004	0.0005	0.0080	0.0004	0.0004	0.0061	0.0055	0.0003	0.0010	3.827e-05	2.52e-05	0	0.0080	0.0004	0.0009	0.0003	0.0005	0.0005	0.0005	0.0004	0.0011	0.0004	0.0003	0.0007	0.0006	9.624e-05	0	0.0011	0	0	0	0.0102	0.0006	0.0014	0	.	.	.	0.344	0.17804	T	.	.	.	.	.	.	0.000007	0.62929	N	0.148471	0.999713	0.48481	D	1.255	0.31814	L	-2.09	0.86077	D	.	.	.	0.36	0.40164	-0.9687	0.37468	T	0.114	0.40605	T	8	0.047377884	0.04049	T	0.015612	0.36438	T	0.099	0.28413	.	.	0.863850240467	0.86253	0.6242270559348848	0.62355	0.194380720479	0.21778	0.248048335314	0.03565	T	0.119236	0.44062	T	-0.389919	0.02694	T	-0.400344	0.33344	T	0.0386358872056007	0.03444	T	0.80472	0.45238	T	0.07583913	0.17113	0.14301969	0.34005	0.07583913	0.17112	0.14301969	0.34004	-8.951	0.67381	D	.	.	0.235	0.46825	B	.	.	2.445339	0.31476	18.75	0.98550227747727059	0.42833	0.87704	0.47333	D	AEFBI	0.356870	0.44810	N	-0.0748548186322868	0.38498	2.255715	0.0599880693048118	0.42555	2.576128	0.0319895884635855	0.14031	0.549168	0.22868	0	0.588066	0.40923	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.83	3.59	0.40253	2.058000	0.41001	0.136000	0.15109	-0.171000	0.11205	1.000000	0.71638	0.964000	0.29435	0.985000	0.61073	0.0:0.7953:0.0:0.2047	10.585	0.44467	905	0.23532	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.025253	0.005435	0.002924	0.000000	0.017241	0.000000	0.000000	0.02632	2766.33	36	chr6	89265642	.	C	T	2766.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=965;ExcessHet=0;FS=5.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=1.02;SOR=1.026	GT:AD:DP:GQ:PL	0/1:131,117:248:99:2780,0,2935	18	0	1	0
chr6	99439801	99439801	C	T	exonic	USP45	.	nonsynonymous SNV	USP45:NM_001346024:exon14:c.G1954A:p.D652N,USP45:NM_001346025:exon14:c.G1951A:p.D651N,USP45:NM_001346028:exon15:c.G1048A:p.D350N,USP45:NM_001080481:exon16:c.G2128A:p.D710N,USP45:NM_001346021:exon16:c.G2128A:p.D710N,USP45:NM_001346022:exon16:c.G2128A:p.D710N,USP45:NM_001346023:exon16:c.G2125A:p.D709N,USP45:NM_001346026:exon16:c.G2128A:p.D710N,USP45:NM_001346027:exon16:c.G1048A:p.D350N,USP45:NM_001346029:exon16:c.G1048A:p.D350N	.	461	1057	4	0	0	4	0.00188857	.	.	.	2193757	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.407	0.0624785499716	0.0008	0.000399361	0.0008	0.0002	0.0006	0	0	0.0013	0.0022	0	0.0006792	105	154602	rs146738523	0.0005	0.0005	0.0005	0.0006	0.0160	0.0005	0.0005	0.0134	0.0124	0.0004	0.0004	0.0079	2.547e-05	0	0.0160	0.0003	0.0015	5.877e-05	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0005	0.0009	0.0008	9.629e-05	0	0.0014	0.0124	0	0	0	0.0004	0.0038	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	1	0.81001	D	2.425	0.70256	M	3.8	0.37578	T	-4.49	0.78046	D	0.95	0.95841	-0.8794	0.49809	T	0.131	0.44208	T	10	0.083295226	0.13841	T	0.062479	0.68667	D	0.407	0.71946	.	.	0.700181430328	0.69758	0.6828722455899846	0.68226	0.472402484298	0.46483	0.639965474606	0.58559	T	0.045446	0.27124	T	-0.33609	0.05664	T	-0.359753	0.38081	T	0.270075410604477	0.23750	T	0.992201	0.97531	D	0.7858302	0.83014	0.6891622	0.81713	0.7858302	0.83016	0.6891622	0.81714	-7.95	0.60728	D	.	.	0.379	0.58999	A	.;.;.	.;.;.	5.273587	0.88551	29.6	0.99924349384527	0.98980	0.98016	0.78896	D	AEFBI	0.853125	0.77007	D	0.518155591278173	0.68164	5.179647	0.515449400128914	0.69026	5.302291	0.990661078754338	0.32229	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.64	4.77	0.60425	7.290000	0.78067	7.649000	0.63599	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.93:0.0:0.07	14.596	0.67998	681	0.59854	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	.	.	.	.	.	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	0.010595	0.005051	0.013587	0.020588	0.000000	0.017241	0.003067	0.003788	0.02632	130.33	33	chr6	99439801	.	C	T	130.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.036;DP=629;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=4.07;ReadPosRankSum=-0.063;SOR=0.829	GT:AD:DP:GQ:PL	0/1:23,9:32:99:144,0,509	18	0	1	0
chr6	106629014	106629014	A	T	exonic	RTN4IP1	.	nonsynonymous SNV	RTN4IP1:NM_032730:exon1:c.T8A:p.F3Y	Optic atrophy 10 with or without ataxia, mental retardation, and seizures, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00649228389482	.	.	5.054e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs771913211	9.603e-06	9.577e-06	8.185e-06	1.104e-05	0.0002	5.57e-06	4.36e-06	8.898e-05	7.063e-05	0	0	0	0	0	0	0	1.662e-05	0.0002	6.569e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.034	0.49613	D	0.075	0.44302	T	0.072	0.31372	B	0.026	0.29179	B	0.602544	0.05655	N	1.192100	0.999959	0.19072	N	1.39	0.34934	L	1.96	0.45636	T	-0.47	0.15178	N	0.285	0.35938	-0.9754	0.36037	T	0.041	0.17446	T	10	0.095012575	0.16939	T	0.006492	0.17100	T	0.055	0.15663	0.243	0.17677	0.302459207581	0.29844	0.31097550345042907	0.31010	0.171963429046	0.19365	0.399641335011	0.25019	T	0.025061	0.18811	T	-0.341645	0.05275	T	-0.491857	0.23196	T	0.244938850402832	0.22645	T	0.586841	0.21439	T	0.072769985	0.16213	0.06806256	0.14163	0.072769985	0.16212	0.06806256	0.14162	-4.663	0.32953	T	.	.	0.099	0.21353	B	.;.	.;.	2.573364	0.33351	19.31	0.97402655609860767	0.33780	0.41166	0.26597	N	ALL	0.105794	0.21129	N	-0.264942695279258	0.30511	1.701976	-0.138546324415143	0.33852	1.94085	0.999999826458992	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.665054	0.64577	0	.	.	5.85	4.68	0.58319	1.391000	0.34083	7.906000	0.73790	0.756000	0.94297	0.862000	0.30648	0.989000	0.31174	0.823000	0.38780	0.8319:0.1681:0.0:0.0	10.123	0.41808	713	0.56348	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	151.33	40	chr6	106629014	.	A	T	151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.929;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.36;ReadPosRankSum=-1.544;SOR=0.437	GT:AD:DP:GQ:PL	0/1:35,10:45:99:165,0,1067	18	0	1	0
chr6	116806860	116806860	T	C	exonic	GPRC6A	.	nonsynonymous SNV	GPRC6A:NM_001286355:exon3:c.A845G:p.H282R,GPRC6A:NM_148963:exon3:c.A845G:p.H282R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.675	0.0522521320593	0.0022	0.000998403	0.0022	0.0004	0.0010	0	0.0098	0.0027	0.0055	6.059e-05	0.0019922	308	154602	rs144964096	0.0017	0.0017	0.0018	0.0017	0.0013	0.0017	0.0017	0.0013	0.0012	0.0002	0.0011	0.0163	2.52e-05	0.0083	0.0002	0.0013	0.0023	6.958e-05	0.0027	0.0027	0.0020	0.0034	0.0035	0.0025	0.0024	0.0028	0.0025	0.0003	0	0.0035	0.0196	0	0.0151	0.0034	0.0016	0.0009	0	0.359	0.12305	T	0.217	0.26145	T	0.942	0.62325	P	0.873	0.61978	P	0.000043	0.53742	D	0.000000	0.995921	0.81001	D	1.67	0.42885	L	-1.56	0.81815	D	-2.21	0.51646	N	0.663	0.67218	-0.2174	0.77221	T	0.423	0.76763	T	10	0.014960676	0.00314	T	0.052252	0.64996	D	0.675	0.88013	.	.	0.781915900491	0.77990	0.8954737721972894	0.89518	0.202593536193	0.22681	0.525685071945	0.42427	T	0.129656	0.45807	T	-0.175073	0.24473	T	-0.0488838	0.67098	D	0.0399996220411855	0.03691	T	0.755524	0.37862	T	0.46506876	0.64986	0.49172154	0.70597	0.46506876	0.64987	0.49172154	0.70598	-7.366	0.58367	T	.	.	0.319	0.54405	B	.;.	.;.	3.229686	0.44041	21.9	0.99197045965591091	0.55171	0.95134	0.63563	D	AEFI	0.540978	0.55732	D	0.255345946972448	0.53902	3.557421	0.253003069818738	0.52819	3.454354	0.0158993212596953	0.12767	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	6.17	4.99	0.65942	1.347000	0.33580	2.599000	0.33511	0.665000	0.62972	0.912000	0.31733	1.000000	0.68203	0.614000	0.31742	0.2559:0.0:0.0:0.7441	10.659	0.44884	496	0.76301	Receptor, ligand binding 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	.	.	.	.	.	.	.	.	0.02632	2530.33	34	chr6	116806860	.	T	C	2530.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.685;DP=861;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=1.06;SOR=0.787	GT:AD:DP:GQ:PL	0/1:116,109:225:99:2544,0,3042	18	0	1	0
chr6	127813913	127813913	C	T	exonic	THEMIS	.	nonsynonymous SNV	THEMIS:NM_001010923:exon4:c.G728A:p.R243H,THEMIS:NM_001164685:exon4:c.G728A:p.R243H,THEMIS:NM_001164687:exon4:c.G623A:p.R208H,THEMIS:NM_001318531:exon5:c.G437A:p.R146H	.	439	1076	6	1	0	8	0.0037037	.	.	.	2759932	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.029	0.00256745155505	7.7e-05	.	0.0002	0	0.0002	0	0	0.0002	0.0012	0.0010	0.000194	30	154602	rs368013855	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	6.656e-05	0	0.0001	0	0.0009	6.997e-05	0.0002	0.0012	8.548e-05	8.534e-05	7.718e-05	9.417e-05	0.0008	4.961e-05	3.965e-05	0.0003	0.0002	0	0	0	0.0003	0.0002	0	0.0068	7.355e-05	0	0.0008	0.434	0.09486	T	0.467	0.20486	T	0.016	0.17332	B	0.008	0.13708	B	0.007109	0.31595	N	0.337248	0.772924	0.34173	D	0.505	0.13445	N	2.57	0.13552	T	-0.97	0.25770	N	0.153	0.19055	-1.0606	0.11607	T	0.023	0.09696	T	10	0.017706364	0.00380	T	0.002567	0.05178	T	0.029	0.06676	.	.	0.176091768786	0.17195	0.3615226913735183	0.36066	.	.	0.24865026772	0.03626	T	0.099953	0.40527	T	-0.492274	0.00632	T	-0.536242	0.18666	T	0.02413459597602	0.01162	T	0.879712	0.59601	D	0.056584585	0.11151	0.03909635	0.03923	0.056584585	0.11151	0.03909635	0.03923	-4.003	0.24013	T	.	.	0.067	0.06387	B	.;.;.;.;.	.;.;.;.;.	1.946601	0.24726	16.50	0.97654140307240644	0.35155	0.62010	0.31653	D	AEFDI	0.124676	0.24084	N	-0.389357072914301	0.25847	1.406165	-0.199318720912645	0.31562	1.78735	4.72064898836925E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.73	2.99	0.33673	1.414000	0.34344	0.820000	0.21843	0.599000	0.40250	1.000000	0.71638	0.978000	0.30204	0.953000	0.50222	0.0:0.5283:0.0:0.4717	5.891	0.18157	597	0.68309	CABIT domain;CABIT domain;.;CABIT domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	983.33	35	chr6	127813913	.	C	T	983.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.515;DP=704;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=-0.82;SOR=0.647	GT:AD:DP:GQ:PL	0/1:34,41:75:99:997,0,741	18	0	1	0
chr6	138107232	138107248	GCAACCAGCCGCGGCCG	-	exonic	PERP	.	frameshift deletion	PERP:NM_022121:exon1:c.93_109del:p.G32Vfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2216.29	34	chr6	138107231	.	TGCAACCAGCCGCGGCCG	T	2216.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.356;DP=766;ExcessHet=0;FS=3.219;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.99;MQRankSum=0;QD=17.45;ReadPosRankSum=-0.199;SOR=0.992	GT:AD:DP:GQ:PL	0/1:69,58:127:99:2230,0,2691	18	0	1	0
chr6	138433578	138433578	C	T	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G779A:p.R260H,NHSL1:NM_001144060:exon6:c.G767A:p.R256H	.	432	1079	11	0	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	.	0.0004	0.00978435	0.0037	0	0.0024	0.0605	0.0024	0.0009	0.0121	0.0037	0.0010349	160	154602	rs76776064	0.0020	0.0019	0.0019	0.0021	0.0545	0.0019	0.0019	0.0525	0.0516	3.165e-05	0.0002	0.0002	0.0545	0.0036	0.0007	0.0002	0.0026	0.0027	0.0024	0.0024	0.0021	0.0026	0.0491	0.0022	0.0021	0.0442	0.0422	2.408e-05	0	0.0009	0	0.0491	0.0027	0.0034	0.0005	0.0028	0.0041	0.223	0.23905	T	0.179	0.30828	T	0.391	0.34615	B	0.054	0.25828	B	0.002221	0.37012	N	0.307389	0.586373	0.31057	N	2.7	0.79018	M	1.04	0.40218	T	-2.88	0.63438	D	0.085	0.06854	-1.0373	0.18140	T	0.020	0.08407	T	10	0.001934737	0.00027	T	.	.	.	0.076	0.22200	.	.	0.0611884634855	0.05136	0.17434372000754764	0.17353	.	.	0.267888396978	0.05867	T	0.034071	0.23173	T	-0.476781	0.00773	T	-0.412849	0.31897	T	0.0722458050119815	0.08962	T	0.89771	0.64303	D	0.08468387	0.19612	0.06972719	0.14728	0.08468387	0.19612	0.06972719	0.14727	-3.67	0.18876	T	.	.	0.068	0.03301	B	.;.;.	.;.;.	3.282820	0.44983	22.0	0.99481581766458882	0.66904	0.85984	0.45184	D	AEFDBI	0.277166	0.39174	N	-0.239150237329321	0.31538	1.769473	-0.0885354507006966	0.35862	2.079932	0.999899522354329	0.45129	0.732398	0.92422	0	0.446627	0.06534	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.95	4.09	0.47038	1.378000	0.33935	1.121000	0.24244	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.1516:0.6913:0.0:0.1571	6.077	0.19145	892	0.26670	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2551.33	45	chr6	138433578	.	C	T	2551.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.6;DP=1088;ExcessHet=0;FS=1.123;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.405;SOR=0.789	GT:AD:DP:GQ:PL	0/1:115,91:206:99:2565,0,2853	18	0	1	0
chr6	155176873	155176873	G	A	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001384547:exon9:c.G2419A:p.A807T,TIAM2:NM_001384546:exon10:c.G2419A:p.A807T,TIAM2:NM_012454:exon10:c.G2419A:p.A807T	.	435	1070	16	1	0	18	0.00834106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00412485520317	0.0007	0.00159744	0.0015	9.66e-05	0.0002	0	0	0.0006	0	0.0087	0.001326	205	154602	rs35964434	0.0009	0.0009	0.0006	0.0012	0.0092	0.0009	0.0009	0.0087	0.0085	0.0002	6.709e-05	7.653e-05	0.0001	9.362e-05	0.0073	0.0004	0.0017	0.0092	0.0007	0.0007	0.0006	0.0008	0.0102	0.0006	0.0005	0.0079	0.0071	2.405e-05	0	0.0007	0.0003	0	9.418e-05	0.0170	0.0005	0.0019	0.0102	0.533	0.09687	T	0.675	0.06205	T	0.0	0.09854	B	0.002	0.10090	B	0.666996	0.06013	N	1.159380	1	0.08975	N	0	0.06538	N	3.65	0.05188	T	-0.3	0.11913	N	0.061	0.13911	-0.9198	0.45581	T	0.002	0.00556	T	10	0.0040363967	0.00078	T	0.004125	0.09869	T	0.011	0.01250	.	.	0.0716867268079	0.06686	0.24427617280808442	0.24341	0.212021421631	0.23700	0.231200873852	0.02058	T	0.011179	0.10005	T	-0.759165	0.00015	T	-0.857291	0.00872	T	0.0221722899805699	0.00928	T	0.506749	0.21633	T	0.030439578	0.02707	0.042848244	0.05196	0.030439578	0.02706	0.042848244	0.05196	-3.162	0.14802	T	.	.	0.063	0.01600	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.428380	0.00038	0.001	0.72413204547151	0.09965	0.02328	0.06665	N	AEFDGBHCI	0.024199	0.01460	N	-1.97331798650765	0.00241	0.01034099	-2.07623023375518	0.00210	0.009245261	0.999999999999982	0.74766	0.615465	0.37627	0	0.552344	0.17405	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.29	-10.6	0.00212	-1.179000	0.03200	-4.564000	0.02093	-1.347000	0.01197	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1751:0.2593:0.3102:0.2554	1.430	0.02190	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	0.007553	0.000000	0.005435	0.011696	0.050000	0.000000	0.009146	0.007576	0.02632	1416.33	40	chr6	155176873	.	G	A	1416.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.538;DP=765;ExcessHet=0;FS=2.175;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.046;SOR=0.56	GT:AD:DP:GQ:PL	0/1:73,63:136:99:1430,0,1824	18	0	1	0
chr6	155254517	155254517	C	T	exonic	TIAM2	.	nonsynonymous SNV	TIAM2:NM_001010927:exon12:c.C1187T:p.T396M,TIAM2:NM_001384547:exon25:c.C4412T:p.T1471M,TIAM2:NM_001384546:exon26:c.C4412T:p.T1471M,TIAM2:NM_012454:exon26:c.C4412T:p.T1471M	.	432	1074	14	2	0	18	0.00831025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00933185682652	0.0011	0.000199681	0.0009	0.0002	0.0003	0	0	0.0013	0	0.0008	0.0007697	119	154602	rs139080393	0.0006	0.0006	0.0005	0.0006	0.0029	0.0005	0.0005	0.0019	0.0015	0.0001	0.0001	0.0180	2.519e-05	3.744e-05	0.0029	0.0001	0.0016	0.0009	0.0007	0.0007	0.0007	0.0006	0.0010	0.0006	0.0005	0.0004	0.0003	0.0001	0	0.0003	0.0173	0	0	0.0034	0.0004	0.0009	0.0010	0.01	0.58626	D	0.054	0.48336	T	0.975	0.61118	D	0.551	0.55619	P	0.464893	0.12347	N	0.765414	1	0.08975	N	1.1	0.28011	L	3.57	0.08194	T	-1.57	0.40468	N	0.276	0.36569	-0.9851	0.33808	T	0.016	0.06473	T	10	0.0044362247	0.00091	T	0.009332	0.24483	T	0.093	0.26882	.	.	0.259761712551	0.25597	0.2741415805010745	0.27327	0.48997199046	0.47747	0.331560254097	0.15170	T	0.037947	0.24663	T	-0.46456	0.00920	T	-0.504839	0.21846	T	0.0210443043712394	0.00805	T	0.880912	0.61653	D	0.029833809	0.02543	0.05491704	0.09536	0.029833809	0.02542	0.05491704	0.09536	-8.357	0.64317	D	.	.	0.081	0.20508	B	.;.;.;.;.;.	.;.;.;.;.;.	3.255467	0.44502	21.9	0.99864795960761843	0.94276	0.18101	0.20120	N	AEFBI	0.106755	0.21290	N	-0.0461334829118635	0.39776	2.351111	-0.101884481890671	0.35315	2.041634	0.708561326192529	0.22791	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.66	4.79	0.60909	1.080000	0.30390	1.522000	0.27099	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.997000	0.79791	0.1377:0.7166:0.1458:0.0	11.199	0.47961	952	0.10565	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004536	0.000000	0.002717	0.008772	0.000000	0.008621	0.006135	0.000000	0.02632	1749.33	55	chr6	155254517	.	C	T	1749.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.582;DP=914;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=-0.043;SOR=0.731	GT:AD:DP:GQ:PL	0/1:84,75:159:99:1763,0,1958	18	0	1	0
chr6	158993886	158993886	T	C	exonic	RSPH3	.	nonsynonymous SNV	RSPH3:NM_001346418:exon2:c.A583G:p.R195G,RSPH3:NM_031924:exon2:c.A157G:p.R53G	Ciliary dyskinesia, primary, 32, Autosomal recessive	433	1085	4	0	0	4	0.00183993	.	.	.	691966	Inborn_genetic_diseases|not_provided|Primary_ciliary_dyskinesia_32	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014657,MedGen:C4225311,OMIM:616481,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.529	0.0159822372932	0.0005	0.00159744	0.0006	0.0002	8.657e-05	0	0	0.0003	0.0033	0.0032	0.0005757	89	154602	rs200757145	0.0006	0.0006	0.0005	0.0006	0.0030	0.0005	0.0005	0.0027	0.0026	2.99e-05	2.238e-05	0	0	3.746e-05	0.0002	0.0005	0.0008	0.0030	0.0004	0.0004	0.0004	0.0004	0.0043	0.0003	0.0003	0.0029	0.0024	7.214e-05	0	0.0003	0	0	9.418e-05	0	0.0004	0	0.0043	0.002	0.72154	D	0.01	0.76473	D	0.998	0.73220	D	0.926	0.66095	D	0.000001	0.62929	D	0.055265	0.999679	0.48205	D	3.41	0.91792	M	1.9	0.27184	T	-6.17	0.90254	D	0.773	0.77039	-0.8820	0.49601	T	0.143	0.46459	T	10	0.021150231	0.00500	T	0.015982	0.37005	T	0.529	0.80128	.	.	0.429320821379	0.42548	0.2886417912392149	0.28777	1.10514115045	0.77871	0.573301136494	0.49144	T	0.35178	0.71930	T	-0.0972401	0.36881	T	0.0844942	0.75879	D	0.189516860040544	0.19816	T	0.918808	0.71304	D	0.7110074	0.78663	0.6691139	0.80590	0.67291856	0.76590	0.63319	0.78595	-11.605	0.82874	D	.	.	0.448	0.72226	A	.;.;.	.;.;.	3.615345	0.51130	23.1	0.99625694187632297	0.75716	0.78218	0.38558	D	AEFBI	0.349225	0.44309	N	0.509804793741145	0.67666	5.112404	0.415012883713652	0.62498	4.466329	0.673191096720774	0.22397	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.67	3.2	0.35826	0.952000	0.28747	0.032000	0.13746	0.665000	0.62972	1.000000	0.71638	0.935000	0.28640	0.995000	0.73285	0.0:0.0:0.2965:0.7035	11.078	0.47259	824	0.40336	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	554.33	41	chr6	158993886	.	T	C	554.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.628;DP=699;ExcessHet=0;FS=2.097;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=0.517;SOR=0.997	GT:AD:DP:GQ:PL	0/1:34,28:62:99:568,0,788	18	0	1	0
chr6	160242388	160242388	T	G	exonic	SLC22A2	.	nonsynonymous SNV	SLC22A2:NM_003058:exon8:c.A1294C:p.K432Q	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.218	.	0.0083	0.0103834	0.0029	0.0257	0.0016	0.0001	0	0.0004	0.0055	0.0016	0.002652	410	154602	rs8177517	0.0011	0.0011	0.0011	0.0010	0.0275	0.0010	0.0010	0.0261	0.0255	0.0275	0.0015	0	7.573e-05	0	0.0086	0.0002	0.0018	0.0019	0.0076	0.0076	0.0081	0.0070	0.0258	0.0072	0.0070	0.0245	0.0240	0.0258	0	0.0022	0.0003	0	0	0	0.0004	0.0043	0.0023	0.229	0.18371	T	0.344	0.17804	T	0.122	0.26746	B	0.292	0.40739	B	0.000560	0.43413	D	0.260422	0.803658	0.29085	N	1.415	0.35607	L	0.34	0.58176	T	-1.69	0.40274	N	0.246	0.27792	-0.9864	0.33494	T	0.108	0.39123	T	10	0.0036082268	0.00065	T	.	.	.	0.218	0.51265	.	.	0.582009938455	0.57872	0.7675702769627697	0.76706	0.104321368259	0.11798	0.275652557611	0.06894	T	0.263474	0.63515	T	-0.532431	0.00372	T	-0.517304	0.20567	T	0.0614544424701545	0.07395	T	0.245875	0.03603	T	0.35134354	0.57171	0.23501341	0.48733	0.35134354	0.57171	0.23501341	0.48732	-5.262	0.39566	T	.	.	0.209	0.43653	B	.	.	2.828157	0.37279	20.5	0.89813165739680301	0.19124	0.99355	0.94938	D	AEI	0.786612	0.71664	D	-0.146613569058772	0.35379	2.031352	-0.106282233963256	0.35136	2.029208	0.999978311216221	0.50053	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	5.13	5.13	0.69729	7.920000	0.86928	4.158000	0.42192	0.663000	0.56723	1.000000	0.71638	0.791000	0.26863	0.155000	0.20479	0.0:0.0:0.0:1.0	15.390	0.74455	735	0.53711	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	0.006546	0.010101	0.006793	0.008772	0.000000	0.017241	0.000000	0.000000	0.02632	2115.33	33	chr6	160242388	.	T	G	2115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.611;DP=784;ExcessHet=0;FS=1.991;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-0.989;SOR=0.812	GT:AD:DP:GQ:PL	0/1:69,88:157:99:2129,0,1610	18	0	1	0
chr6	161049582	161049582	G	T	exonic	MAP3K4	.	nonsynonymous SNV	MAP3K4:NM_001301072:exon3:c.G1310T:p.G437V,MAP3K4:NM_001363582:exon3:c.G1310T:p.G437V,MAP3K4:NM_005922:exon3:c.G1310T:p.G437V,MAP3K4:NM_006724:exon3:c.G1310T:p.G437V	.	432	1087	3	0	0	3	0.00137804	.	.	.	2295257	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	0.0083421904374	0.0002	0.000399361	0.0005	0.0003	0.0005	0	0	0.0006	0.0022	0.0006	0.0004722	73	154602	rs146790152	0.0003	0.0003	0.0003	0.0004	0.0082	0.0003	0.0003	0.0063	0.0056	0.0002	0.0005	0.0035	0	9.36e-05	0.0082	0.0002	0.0006	0.0011	0.0003	0.0003	0.0004	0.0003	0.0004	0.0002	0.0002	0.0002	0.0002	7.218e-05	0	0.0004	0.0052	0	0	0	0.0003	0.0005	0.0004	0.015	0.61437	D	0.061	0.70582	T	0.943	0.54400	P	0.642	0.52168	P	0.000692	0.42383	D	0.203842	0.999973	0.53665	D	2.015	0.55033	M	2.1	0.19990	T	-3.4	0.68178	D	0.251	0.28381	-1.0975	0.04407	T	0.033	0.14029	T	10	0.005516082	0.00122	T	0.008342	0.22080	T	0.182	0.45420	.	.	0.430026717358	0.42623	0.5671631528541033	0.56644	0.691478357514	0.60598	0.371650993824	0.21069	T	0.431891	0.77985	T	-0.359019	0.04185	T	-0.366469	0.37301	T	0.0422281955076228	0.04097	T	0.965303	0.87188	D	0.19578579	0.41380	0.20183995	0.44182	0.19578579	0.41380	0.20183995	0.44181	-3.526	0.16798	T	.	.	0.162	0.40778	B	.;.;.;.	.;.;.;.	3.535498	0.49623	22.8	0.99437217962253921	0.64571	0.94960	0.62932	D	AEFBHI	0.266758	0.38361	N	0.19382095616583	0.50902	3.275949	0.162562899247517	0.47811	3.005825	0.997423829677743	0.35604	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.82	4.03	0.46115	3.385000	0.52224	3.922000	0.40477	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.2657:0.0:0.7343:0.0	7.985	0.29366	900	0.24599	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.005435	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1723.33	46	chr6	161049582	.	G	T	1723.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.954;DP=896;ExcessHet=0;FS=10.34;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=-0.027;SOR=0.555	GT:AD:DP:GQ:PL	0/1:72,69:141:99:1737,0,1927	18	0	1	0
chr6	161232203	161232203	G	A	exonic	AGPAT4	.	nonsynonymous SNV	AGPAT4:NM_020133:exon2:c.C11T:p.A4V	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.00224846357698	0.0014	0.00299521	0.0009	0.0037	0.0009	0	0	0.0006	0.0022	0.0009	0.0008926	138	154602	rs115239818	0.0005	0.0005	0.0005	0.0005	0.0129	0.0005	0.0005	0.0105	0.0097	0.0049	0.0011	0.0036	0	9.362e-05	0.0129	0.0002	0.0011	0.0010	0.0015	0.0015	0.0018	0.0013	0.0041	0.0014	0.0013	0.0036	0.0034	0.0041	0	0.0011	0.0052	0	0	0.0034	0.0003	0.0009	0.0006	1.0	0.03085	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.238051	0.03564	N	1.552850	1	0.23914	N	-0.125	0.04555	N	1.6	0.28604	T	0.55	0.02721	N	0.028	0.00618	-1.0133	0.25880	T	0.009	0.03183	T	10	0.002331853	0.00034	T	0.002248	0.04287	T	0.090	0.26093	.	.	0.218628672733	0.21463	0.2191698142890622	0.21832	0.735110689798	0.62940	0.249967694283	0.03764	T	0.001565	0.15285	T	-0.706801	0.00033	T	-0.78952	0.02178	T	0.00101130398277556	0.00010	T	0.564244	0.19889	T	0.011590569	0.00019	0.032735206	0.02056	0.011590569	0.00019	0.032735206	0.02056	-2.187	0.03978	T	.	.	0.058	0.05845	B	.;.;.	.;.;.	-0.178811	0.03201	0.530	0.3132802657316186	0.01760	0.00768	0.03170	N	AEFDBIJ	0.038444	0.05440	N	-1.92506932418097	0.00305	0.01308942	-1.87961326434967	0.00537	0.02381407	0.997997122038283	0.36288	0.732398	0.92422	0	0.53679	0.11191	0	0.644132	0.48003	0	0.727631	0.95156	0	.	.	5.38	-5.06	0.02725	-0.125000	0.10555	0.508000	0.19055	-1.462000	0.01081	0.000000	0.06391	0.000000	0.08366	0.198000	0.21837	0.4856:0.0:0.5144:0.0	14.933	0.70577	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.009511	0.014620	0.000000	0.008621	0.006098	0.000000	0.02632	600.33	34	chr6	161232203	.	G	A	600.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.523;DP=736;ExcessHet=0;FS=10.181;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.34;ReadPosRankSum=-1.954;SOR=0.053	GT:AD:DP:GQ:PL	0/1:22,23:45:99:614,0,741	18	0	1	0
chr6	165289918	165289918	C	A	exonic	C6orf118	.	nonsynonymous SNV	C6orf118:NM_144980:exon7:c.G1270T:p.D424Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0118605797883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.062	0.45318	T	0.848	0.46844	P	0.177	0.35687	B	0.322666	0.04084	N	1.445350	1	0.08975	N	1.445	0.36358	L	2.65	0.12676	T	-3.76	0.71276	D	0.377	0.41853	-0.9981	0.30451	T	0.007	0.02478	T	10	0.15313843	0.28912	T	0.011861	0.29900	T	0.035	0.08770	0.273	0.22369	0.229924730088	0.22615	0.18653277934481438	0.18571	0.271202250786	0.29639	.	.	.	0.005005	0.04428	T	-0.267802	0.12004	T	-0.622455	0.10993	T	0.906179785728455	0.56012	D	0.633837	0.24812	T	0.048596933	0.08496	0.10028245	0.23972	0.048596933	0.08496	0.10028245	0.23972	-5.392	0.40842	T	.	.	0.127	0.27131	B	.	.	1.409932	0.18251	13.63	0.92510494374470287	0.21949	0.01917	0.05860	N	AEFBI	0.051282	0.09046	N	-0.813178846379686	0.12973	0.6359478	-0.936008107385585	0.11249	0.5719004	1.73950395019851E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.44	-1.48	0.08286	0.156000	0.16200	0.166000	0.15462	-0.218000	0.08083	0.000000	0.06391	0.000000	0.08366	0.253000	0.23340	0.1276:0.2574:0.1781:0.4369	1.555	0.02427	989	0.01410	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1219.33	34	chr6	165289918	.	C	A	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.738;DP=710;ExcessHet=0;FS=2.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=0.727;SOR=0.471	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1233,0,1109	18	0	1	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,33:73:99:0|1:170561951_A_*:1201,0,1283:170561951	0	12	7	0
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,14:31:99:0|1:290724_A_G:137,0,224:290724	2	0	16	1
chr7	1058297	1058297	C	T	exonic	GPR146	.	nonsynonymous SNV	GPR146:NM_001303473:exon2:c.C782T:p.S261L,GPR146:NM_138445:exon2:c.C782T:p.S261L,GPR146:NM_001303474:exon3:c.C782T:p.S261L	.	428	1078	15	1	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	.	0.0018	0.00499201	0.0026	0.0017	0.0019	0	0.0002	0.0026	0.0022	0.0057	0.0024709	382	154602	rs61731818	0.0025	0.0024	0.0023	0.0026	0.0222	0.0024	0.0023	0.0185	0.0172	0.0014	0.0027	0.0195	2.773e-05	2.142e-05	0.0222	0.0013	0.0042	0.0041	0.0022	0.0022	0.0021	0.0022	0.0052	0.0020	0.0019	0.0036	0.0031	0.0015	0	0.0035	0.0216	0	0	0.0170	0.0014	0.0061	0.0052	0.545	0.06691	T	0.199	0.27679	T	0.021	0.18474	B	0.004	0.10090	B	0.955972	0.08256	N	0.974748	0.999986	0.18198	N	0.41	0.12415	N	-0.61	0.71779	T	-0.42	0.18042	N	0.042	0.01498	-1.0282	0.21038	T	0.124	0.42799	T	10	0.0032946467	0.00057	T	.	.	.	0.176	0.44373	.	.	0.427713192076	0.42389	0.12384076464715456	0.12310	0.0659189846376	0.07352	0.359224975109	0.19273	T	0.02272	0.17466	T	-0.399436	0.02335	T	-0.345586	0.39710	T	0.000862943776935603	0.00008	T	0.621638	0.23898	T	0.024727002	0.01333	0.03364915	0.02295	0.024727002	0.01333	0.03364915	0.02294	-0.804	0.00806	T	.	.	0.097	0.15788	B	.;.	.;.	0.824561	0.11960	8.519	0.54683460613266677	0.05187	0.11833	0.16891	N	AEFGBI	0.090223	0.18283	N	-1.08284032548822	0.06959	0.3218808	-1.04846480435655	0.08739	0.4311509	0.999645661480633	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.11	3.12	0.34986	0.273000	0.18425	1.795000	0.28833	0.597000	0.34315	0.000000	0.06391	0.004000	0.18990	0.002000	0.04165	0.0:0.7761:0.0:0.2239	9.796	0.39901	912	0.21483	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	0.016616	0.010101	0.024457	0.035088	0.000000	0.000000	0.009146	0.003788	0.02632	2119.33	35	chr7	1058297	.	C	T	2119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=812;ExcessHet=0;FS=2.011;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=1.29;SOR=0.877	GT:AD:DP:GQ:PL	0/1:76,79:155:99:2133,0,1813	18	0	1	0
chr7	1547027	1547027	-	CC	exonic	TMEM184A	.	frameshift insertion	TMEM184A:NM_001097620:exon9:c.1166_1167insGG:p.S390Afs*19	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.982e-05	0	0	0	0	3.711e-05	0	0	1.29e-05	2	154602	.	5.439e-05	6.432e-05	4.11e-05	6.781e-05	0.0012	4.439e-05	4.108e-05	0.0005	0.0004	0	4.487e-05	3.843e-05	0	4.222e-05	0.0012	4.233e-05	9.987e-05	0.0002	1.315e-05	1.314e-05	2.571e-05	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1085.29	41	chr7	1547027	.	G	GCC	1085.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=874;ExcessHet=0;FS=7.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=-0.31;SOR=0.45	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,44:84:99:1|0:1547017_A_AGCC:1099,0,1006:1547017	18	0	1	0
chr7	1547030	1547030	-	A	exonic	TMEM184A	.	frameshift insertion	TMEM184A:NM_001097620:exon9:c.1163_1164insT:p.S390Qfs*34	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.774e-05	0	0	0	0	3.254e-05	0	0	1.29e-05	2	154602	rs777693281	5.229e-05	5.404e-05	3.834e-05	6.639e-05	0.0012	4.283e-05	3.911e-05	0.0005	0.0004	0	4.486e-05	3.841e-05	0	0	0.0012	4.141e-05	9.982e-05	0.0002	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1150.29	41	chr7	1547030	.	G	GA	1150.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.293;DP=855;ExcessHet=0;FS=7.087;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.26;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,47:87:99:1|0:1547017_A_AGCC:1164,0,997:1547017	18	0	1	0
chr7	4245763	4245763	C	G	exonic	SDK1	.	nonsynonymous SNV	SDK1:NM_001079653:exon18:c.C1800G:p.S600R,SDK1:NM_152744:exon44:c.C6339G:p.S2113R	.	423	1084	15	0	0	15	0.00687128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.206910681415	.	0.000599042	0.0004	0	0.0002	0	0	6.008e-05	0.0011	0.0027	0.0003493	54	154602	rs530887928	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0027	0.0026	0	0.0002	0	0	0	0.0010	2.338e-05	0.0002	0.0030	0.0001	0.0001	0.0001	0.0002	0.0021	9.148e-05	7.703e-05	0.0011	0.0009	0	0	0.0003	0	0	0	0.0034	5.881e-05	0.0005	0.0021	0.001	0.78490	D	0.002	0.79402	D	0.997	0.77913	D	0.901	0.76113	P	0.000351	0.45440	D	0.182537	0.997865	0.22470	N	2.465	0.71551	M	-0.49	0.70480	T	-4.18	0.75537	D	0.598	0.62103	-0.4566	0.70181	T	0.456	0.78825	T	10	0.018219262	0.00394	T	0.206911	0.87065	D	0.277	0.59375	0.353	0.35246	0.642813735845	0.63986	0.5704469799611893	0.56972	0.380274087306	0.39395	0.476378977299	0.35559	T	0.446501	0.78912	T	-0.304245	0.08265	T	-0.214419	0.53274	T	0.196477155091909	0.20219	T	0.740126	0.35895	T	0.62428826	0.73992	0.44152948	0.67434	0.62428826	0.73994	0.44152948	0.67434	-5.555	0.42379	T	.	.	0.651	0.75456	P	.;.;.	.;.;.	2.290444	0.29297	18.08	0.99725486490890458	0.82336	0.22407	0.21736	N	AEFDGBCI	0.200611	0.32733	N	-0.227156494790349	0.32022	1.801635	-0.444620892263974	0.23701	1.293947	0.648847095661073	0.22139	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.09	-0.598	0.11065	0.326000	0.19391	-1.834000	0.04642	-0.176000	0.10722	0.024000	0.20007	0.000000	0.08366	0.948000	0.49324	0.0:0.5754:0.0:0.4246	9.768	0.39737	943	0.12886	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1189.33	38	chr7	4245763	.	C	G	1189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=741;ExcessHet=0;FS=3.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=0.335;SOR=0.526	GT:AD:DP:GQ:PL	0/1:64,51:115:99:1203,0,1487	18	0	1	0
chr7	20685702	20685702	A	T	exonic	ABCB5	.	stopgain	ABCB5:NM_178559:exon7:c.A541T:p.K181X,ABCB5:NM_001163941:exon16:c.A1876T:p.K626X	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	0.00758786	0.0023	0.0257	0.0009	0	0	3.067e-05	0	6.453e-05	0.0021474	332	154602	rs76179099	0.0007	0.0007	0.0008	0.0006	0.0263	0.0007	0.0006	0.0249	0.0243	0.0263	0.0011	0	0	0	0.0007	8.126e-06	0.0014	3.573e-05	0.0072	0.0072	0.0074	0.0069	0.0252	0.0068	0.0067	0.0239	0.0234	0.0252	0	0.0021	0	0	0	0	5.88e-05	0.0038	0	.	.	.	.	.	.	.	.	.	.	.	.	0.388430	0.04462	N	1.482100	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.722	0.74826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201789	0.74059	D	0.536677	0.95345	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.	High;.	7.553027	0.96632	36	0.99502618475008553	0.68147	0.52285	0.29095	D	AEBI	0.144987	0.26809	N	0.33965125309602	0.58197	3.990453	0.0969311068654717	0.44393	2.722009	2.48194598672469E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.13	1.68	0.23219	1.030000	0.29760	2.738000	0.34441	0.681000	0.82415	1.000000	0.71638	1.000000	0.68203	0.755000	0.35964	0.6835:0.2081:0.1085:0.0	4.181	0.09839	845	0.36510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.003788	0.02632	1283.33	33	chr7	20685702	.	A	T	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-2.156;SOR=0.75	GT:AD:DP:GQ:PL	0/1:64,54:118:99:1297,0,1435	18	0	1	0
chr7	20704737	20704737	T	G	exonic	ABCB5	.	nonsynonymous SNV	ABCB5:NM_178559:exon11:c.T1016G:p.F339C,ABCB5:NM_001163941:exon20:c.T2351G:p.F784C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.817	.	0.0038	0.00199681	0.0008	0.0087	0	0	0	3.006e-05	0	0	0.0007115	110	154602	rs139933666	0.0003	0.0003	0.0003	0.0002	0.0077	0.0002	0.0002	0.0069	0.0066	0.0077	0.0003	0	0	0	0	6.567e-05	0.0007	5.801e-05	0.0026	0.0026	0.0026	0.0026	0.0092	0.0024	0.0023	0.0084	0.0081	0.0092	0	0.0010	0	0	0	0	4.411e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000642	0.42656	D	0.095941	0.771236	0.34153	D	3.035	0.86516	M	-2.04	0.85703	D	-7.05	0.93856	D	0.834	0.82964	0.685	0.92994	D	0.732	0.90837	D	10	0.033290416	0.01501	T	.	.	.	0.817	0.94123	.	.	0.897222357536	0.89620	0.7056507071302257	0.70507	0.0361349943124	0.03815	0.593514084816	0.51990	T	0.66355	0.89932	D	-0.211715	0.19138	T	-0.070917	0.65561	T	0.123492366430861	0.14768	T	0.89651	0.63872	D	0.8724793	0.89058	0.8597702	0.92163	0.8724793	0.89060	0.8597702	0.92163	-11.892	0.85224	D	.	.	0.716	0.81965	P	.;.	.;.	4.331766	0.66382	25.0	0.98927592644743101	0.48676	0.84143	0.43227	D	AEFBI	0.334061	0.43295	N	0.572786599452838	0.71478	5.657222	0.433403359916189	0.63657	4.604017	2.48976572173648E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.66	3.47	0.38831	2.175000	0.42119	3.427000	0.38290	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.1758:0.0:0.0:0.8242	8.746	0.33750	923	0.18507	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane 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	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1410.33	35	chr7	20704737	.	T	G	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.18;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-0.434;SOR=0.657	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1424,0,1215	18	0	1	0
chr7	21744549	21744549	T	C	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon50:c.T8266C:p.C2756R	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	240054	not_specified|not_provided|Primary_ciliary_dyskinesia	MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0055	0.00439297	0.0016	0.0193	0.0004	0	0	0	0	0	0.0015071	233	154602	rs74667361	0.0005	0.0005	0.0006	0.0004	0.0202	0.0005	0.0005	0.0189	0.0184	0.0202	0.0006	0	0	0	0	2.698e-06	0.0010	1.163e-05	0.0054	0.0054	0.0055	0.0053	0.0190	0.0051	0.0050	0.0179	0.0174	0.0190	0	0.0014	0	0	0	0	4.41e-05	0.0052	0	0.112	0.28900	T	.	.	.	.	.	.	.	.	.	0.033534	0.24886	N	0.467062	0.994164	0.23574	N	.	.	.	1.15	0.38236	T	-2.45	0.53577	N	0.804	0.79986	-1.0389	0.17648	T	0.027	0.11397	T	9	0.0057400465	0.00128	T	.	.	.	0.058	0.16647	.	.	0.293147016451	0.28931	0.36782963236323096	0.36696	.	.	0.314025998116	0.12516	T	0.084659	0.37328	T	-0.481788	0.00722	T	-0.449895	0.27709	T	0.00774486285346251	0.00090	T	0.262774	0.04248	T	0.40645915	0.61178	0.4431147	0.67538	0.47175798	0.65399	0.5964186	0.76568	-3.667	0.18832	T	0.1910642541426416	0.25055	0.089	0.12181	B	.;.;.	.;.;.	1.841954	0.23403	16.00	0.94788829430699195	0.25527	0.19787	0.20795	N	AEFBI	0.170020	0.29690	N	-0.466206023568886	0.23195	1.243813	-0.388339014209686	0.25344	1.393155	6.96752173028097E-5	0.04366	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	3.48	0.38946	0.802000	0.26730	0.502000	0.19004	0.665000	0.62972	0.001000	0.13787	0.049000	0.21787	0.924000	0.46004	0.1207:0.0654:0.0:0.814	8.102	0.30022	860	0.33753	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1089.33	34	chr7	21744549	.	T	C	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.888;DP=718;ExcessHet=0;FS=2.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.387;SOR=0.443	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1103,0,1141	18	0	1	0
chr7	21744915	21744915	C	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon51:c.C8362G:p.H2788D	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	240055	Primary_ciliary_dyskinesia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.257	.	0.0047	0.00359425	0.0017	0.0187	0.0004	0	0	0	0	0	0.0011707	181	154602	rs147478795	0.0004	0.0004	0.0005	0.0003	0.0162	0.0004	0.0004	0.0151	0.0146	0.0162	0.0004	0	0	0	0	1.801e-06	0.0008	0	0.0044	0.0044	0.0046	0.0042	0.0153	0.0041	0.0040	0.0144	0.0140	0.0153	0	0.0012	0	0	0	0	4.41e-05	0.0047	0	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	0.000002	0.62929	D	0.098316	0.999997	0.58761	D	.	.	.	2.17	0.19020	T	-8.38	0.97104	D	0.89	0.88909	-1.1219	0.02215	T	0.047	0.20077	T	9	0.0115222335	0.00251	T	.	.	.	0.257	0.56827	.	.	0.355242300401	0.35136	0.47563588646751565	0.47482	.	.	0.527528524399	0.42687	T	0.46318	0.79924	T	-0.402553	0.02228	T	-0.338692	0.40492	T	0.108831969042771	0.13302	T	0.943806	0.78763	D	0.45328313	0.64249	0.3717385	0.62397	0.34275696	0.56498	0.39205214	0.63960	-6.926	0.53492	T	0.5210388541771183	0.59330	0.259	0.49373	B	.;.;.;.	.;.;.;.	3.818327	0.55117	23.6	0.98657961724892762	0.44289	0.98180	0.80296	D	AEFGBI	0.656338	0.62836	D	0.278169498278578	0.55043	3.668755	0.25751259454795	0.53077	3.478604	0.984219769245849	0.30682	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.4	4.52	0.54797	4.001000	0.56758	4.891000	0.45764	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.341000	0.25455	0.0:0.9181:0.0:0.0819	12.476	0.55154	854	0.34840	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1092.33	36	chr7	21744915	.	C	G	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.178;DP=748;ExcessHet=0;FS=2.701;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.251;SOR=1.001	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1106,0,1452	18	0	1	0
chr7	21842551	21842551	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon66:c.A10699G:p.R3567G	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0126167074155	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868671829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	0.043294	0.23754	N	0.487974	0.892839	0.35991	D	.	.	.	1.91	0.23283	T	-4.34	0.76822	D	0.498	0.53093	-1.0327	0.19586	T	0.063	0.26136	T	9	0.27566373	0.45126	T	0.012617	0.31353	T	0.084	0.24469	0.502	0.59460	0.158396225186	0.15383	0.6163855672618224	0.61570	.	.	0.270570456982	0.06215	T	0.452465	0.79278	T	-0.155711	0.27421	T	-0.461444	0.26441	T	0.976351976394653	0.71342	D	0.947705	0.79824	D	0.6501604	0.75372	0.5647834	0.74812	0.6501604	0.75374	0.5647834	0.74812	-12.694	0.88063	D	0.7842601577067425	0.86371	0.287	0.51925	B	.;.;.	.;.;.	2.271768	0.29037	17.99	0.98661224914175538	0.44331	0.95832	0.66344	D	AEFI	0.639987	0.61784	D	-0.257365783568565	0.30810	1.721472	-0.164416074320807	0.32858	1.873556	0.0281957390378895	0.13817	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.36	4.19	0.48645	2.744000	0.47126	5.291000	0.48208	-0.092000	0.16129	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.8501:0.1499:0.0:0.0	11.568	0.50072	753	0.51500	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	882.33	34	chr7	21842551	.	A	G	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.148;DP=716;ExcessHet=0;FS=0.834;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=-1.855;SOR=0.85	GT:AD:DP:GQ:PL	0/1:51,41:92:99:896,0,1221	18	0	1	0
chr7	21903033	21903033	G	C	exonic	CDCA7L	.	nonsynonymous SNV	CDCA7L:NM_001127371:exon8:c.C1141G:p.L381V,CDCA7L:NM_018719:exon9:c.C1279G:p.L427V,CDCA7L:NM_001127370:exon10:c.C1177G:p.L393V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.410	0.0390033762269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.58761	D	2.54	0.74080	M	0.45	0.57100	T	-2.77	0.58733	D	0.86	0.86085	-0.4355	0.70880	T	0.300	0.67148	T	10	0.92253935	0.91605	D	0.039003	0.58559	D	0.410	0.72176	0.839	0.94541	0.680292798238	0.67757	0.7623525284018635	0.76183	1.83450345228	0.92091	0.704043865204	0.67729	T	0.460071	0.79740	T	0.144075	0.68712	D	-0.030823	0.68314	D	0.997395753860474	0.91454	D	0.947805	0.90870	D	0.8036487	0.84139	0.7397539	0.84617	0.8036487	0.84141	0.7397539	0.84618	-10.929	0.79267	D	.	.	0.801	0.79647	P	.;.;.	.;.;.	5.324828	0.89372	30	0.99861258087818028	0.94002	0.99205	0.92781	D	AEFBI	0.757372	0.69635	D	0.682320948603142	0.78473	6.878936	0.65225693490391	0.78778	6.945406	0.999999999097164	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.43	4.55	0.55429	6.889000	0.75444	9.935000	0.82611	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0714:0.0:0.9286:0.0	14.355	0.66294	822	0.40702	.;Zinc-finger domain of monoamine-oxidase A repressor R1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	322.46	145	chr7	21903033	.	G	C	322.46	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.82;DP=1144;ExcessHet=0.119;FS=211.169;InbreedingCoeff=-0.069;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=1.93;SOR=7.978	GT:AD:DP:GQ:PL	0/1:89,17:106:98:98,0,2340	18	0	1	0
chr7	30446188	30446188	C	G	exonic	NOD1	.	nonsynonymous SNV	NOD1:NM_001354849:exon9:c.G2406C:p.K802N,NOD1:NM_006092:exon9:c.G2406C:p.K802N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0689500649545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0043	0.0008	0.0007	0.0008	0.0007	0.0007	0.0008	0.0008	0.0007	4.479e-05	0.0003	2.536e-05	1.874e-05	0.0004	0.0008	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.018	0.59732	D	0.942	0.52977	P	0.697	0.54061	P	0.000032	0.55875	D	0.190889	0.966891	0.38559	D	1.64	0.41913	L	-0.24	0.66834	T	-2.97	0.61865	D	0.635	0.64818	-0.5186	0.67966	T	0.323	0.69177	T	10	0.7050225	0.72683	D	0.06895	0.70595	D	0.177	0.44549	0.387	0.40788	0.894045435077	0.89299	0.4355661146951452	0.43473	0.617561874547	0.56189	0.462699949741	0.33681	T	0.14665	0.48435	T	-0.138881	0.30068	T	-0.43727	0.29114	T	0.985395491123199	0.76401	D	0.922508	0.71813	D	0.33777446	0.56102	0.20677517	0.44907	0.33777446	0.56102	0.20677517	0.44906	-7.6	0.58311	D	.	.	0.536	0.66190	A	.	.	4.080191	0.60688	24.2	0.99860283607025768	0.93911	0.38904	0.26093	N	AEFGBHCI	0.291813	0.40285	N	0.326417966070398	0.57508	3.918382	0.301145757670786	0.55606	3.724	0.999999999809702	0.74766	0.615465	0.37627	0	0.71359	0.82159	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.38	4.49	0.54177	1.026000	0.29708	1.366000	0.25918	0.599000	0.40250	0.992000	0.37556	0.999000	0.35428	0.998000	0.85391	0.0:0.7718:0.1502:0.078	8.934	0.34846	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	625.69	40	chr7	30446188	.	C	G	625.69	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.478;DP=1332;ExcessHet=0.3672;FS=244.78;InbreedingCoeff=-0.0996;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=2.27;SOR=10.163	GT:AD:DP:GQ:PL	0/1:121,39:160:89:89,0,2570	16	0	3	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	510.68	118	chr7	43624718	.	C	G	510.68	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.361;DP=2084;ExcessHet=5.3738;FS=242.676;InbreedingCoeff=-0.3047;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.52;ReadPosRankSum=1.5;SOR=12.174	GT:AD:DP:GQ:PL	0/1:90,44:138:99:134,0,1560	10	0	9	0
chr7	45080752	45080752	G	A	exonic	NACAD	.	nonsynonymous SNV	NACAD:NM_001146334:exon7:c.C4562T:p.A1521V	.	408	1106	8	0	0	8	0.0036036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.015401626754	0.0002	0.000798722	0.0009	0	0	0	0	0.0005	0	0.0017	0.0001552	24	154602	rs377008938	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0020	0.0017	3.165e-05	0.0002	0.0004	0	0	0.0032	8.527e-05	0.0005	0.0020	0.0001	0.0001	0.0001	0.0002	0.0023	8.658e-05	7.251e-05	0.0013	0.0010	0	0	0.0003	0.0003	0	0	0	4.411e-05	0.0005	0.0023	0.002	0.72154	D	0.029	0.54541	D	0.994	0.66517	D	0.542	0.48916	P	0.044721	0.23608	N	0.441004	0.976431	0.25374	N	1.61	0.41143	L	2.69	0.12268	T	-2.24	0.50175	N	0.18	0.19459	-1.0756	0.08225	T	0.029	0.12322	T	10	0.010412812	0.00232	T	0.015402	0.36109	T	0.123	0.34020	.	.	0.454426139905	0.45068	0.33423516624792166	0.33336	0.0087170718427	0.00791	0.494011521339	0.37996	T	0.019457	0.15501	T	-0.510061	0.00502	T	-0.511919	0.21119	T	0.097372351411092	0.12065	T	0.967003	0.87984	D	0.09993744	0.23592	0.17105918	0.39261	0.09993744	0.23592	0.17105918	0.39260	-6.915	0.53410	T	.	.	0.247	0.48124	B	.	.	4.411955	0.68264	25.2	0.99906285539164219	0.97651	0.95125	0.63529	D	AEFDBI	0.463248	0.51224	N	0.206917990082091	0.51533	3.333831	0.215009899648274	0.50680	3.257544	0.668594599347881	0.22350	0.713056	0.82018	0	0.547309	0.14657	0	0.608524	0.38960	0	0.664235	0.64389	0	.	.	4.36	3.45	0.38602	5.910000	0.69668	5.817000	0.50053	0.592000	0.32167	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0922:0.0:0.9078:0.0	11.537	0.49898	726	0.54788	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002119	0.000000	0.006787	0.003623	0.000000	0.000000	0.000000	0.000000	0.05263	5301.83	39	chr7	45080752	.	G	A	5301.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.54;DP=1314;ExcessHet=0.119;FS=2.481;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.57;ReadPosRankSum=-1.071;SOR=0.561	GT:AD:DP:GQ:PL	0/1:68,88:156:99:2418,0,1501	17	0	2	0
chr7	47368655	47368655	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon17:c.C1991T:p.A664V	.	417	1104	1	0	0	1	0.000452694	.	.	.	700092	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.273	.	0.0074	0.00599042	0.0021	0.0226	0.0009	0	0	9.307e-05	0	9.239e-05	0.0018693	289	154602	rs114488371	0.0007	0.0007	0.0008	0.0006	0.0256	0.0007	0.0007	0.0241	0.0236	0.0256	0.0011	0	0	0	0.0023	1.809e-05	0.0016	0.0001	0.0069	0.0069	0.0073	0.0065	0.0240	0.0066	0.0064	0.0227	0.0222	0.0240	0	0.0022	0	0	0	0.0102	7.35e-05	0.0062	0.0002	0.212	0.21884	T	0.31	0.19721	T	0.001	0.07471	B	0.001	0.04355	B	0.004036	0.01000	N	2.667530	1	0.08975	N	0.685	0.16464	N	-2.86	0.92007	D	-1.25	0.33401	N	0.055	0.02658	-0.4838	0.69231	T	0.413	0.76109	T	10	0.0035122037	0.00063	T	.	.	.	0.273	0.58883	.	.	0.466704794315	0.46296	0.2406373008904654	0.23977	.	.	0.309506624937	0.11833	T	0.086	0.37538	T	-0.409998	0.01987	T	-0.342786	0.40030	T	0.00382743987047421	0.00040	T	0.525647	0.17278	T	0.016828338	0.00225	0.024763819	0.00502	0.016828338	0.00225	0.024763819	0.00502	-4.646	0.32744	T	.	.	0.077	0.08657	B	.;.	.;.	0.421142	0.07917	4.624	0.94270029319779824	0.24557	0.04322	0.09878	N	AEFBI	0.051443	0.09089	N	-0.936719561257871	0.09992	0.4754618	-0.947352580124172	0.10984	0.5568171	0.999994231931826	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.45	-1.74	0.07622	-0.579000	0.05927	-1.473000	0.05360	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.286000	0.24163	0.1691:0.3281:0.2514:0.2514	1.296	0.01945	899	0.25060	.;.	.	.	.	.	.	Likely benign	0	0	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	0.010101	0.009511	0.008772	0.000000	0.008621	0.000000	0.000000	0.02632	2013.33	87	chr7	47368655	.	G	A	2013.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1576;ExcessHet=0;FS=6.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=-1.062;SOR=0.83	GT:AD:DP:GQ:PL	0/1:89,73:162:99:2027,0,2255	18	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,48:108:99:.:.:385,0,916:.	4	0	15	0
chr7	48041411	48041414	AGCA	-	exonic	C7orf57	.	frameshift deletion	C7orf57:NM_001100159:exon3:c.133_136del:p.S45Ifs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66e-05	0	0	0	0	3.006e-05	0	0	1.29e-05	2	154602	rs763237753	1.368e-06	1.368e-06	0	2.751e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2259.29	34	chr7	48041410	.	CAGCA	C	2259.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=808;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.79;ReadPosRankSum=-0.638;SOR=0.781	GT:AD:DP:GQ:PL	0/1:68,59:127:99:2273,0,2649	18	0	1	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	.	.	.	.	.	.	.	.	0.3333	1133.83	136	chr7	48103309	.	A	G	1133.83	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.526;DP=1709;ExcessHet=11.1788;FS=109.594;InbreedingCoeff=-0.4559;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.783;SOR=10.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,15:89:78:.:.:78,0,2348:.	6	0	12	1
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2353	1577.5	244	chr7	50368104	.	C	G	1577.5	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-4.459;DP=2555;ExcessHet=4.0268;FS=190.894;InbreedingCoeff=-0.3109;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=2.98;SOR=12.201	GT:AD:DP:GQ:PL	0/1:123,47:176:99:153,0,2107	9	0	8	2
chr7	51083133	51083133	C	T	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001287436:exon8:c.G1192A:p.D398N,COBL:NM_001346441:exon8:c.G1192A:p.D398N	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00923981256351	.	0.00139776	0.0026	0	0	0	0.0019	0.0043	0	0.0023	0.0006145	95	154602	rs200114771	0.0077	0.0036	0.0080	0.0075	0.0223	0.0075	0.0074	0.0180	0.0164	0.0009	0.0044	0.0040	0.0023	0.0068	0.0223	0.0088	0.0080	0.0031	0.0027	0.0024	0.0026	0.0027	0.0052	0.0024	0.0023	0.0040	0.0036	0.0007	0	0.0052	0.0007	0.0013	0.0035	0.0105	0.0034	0.0028	0.0026	0.345	0.12511	T	0.064	0.48855	T	0.944	0.53183	P	0.243	0.38752	B	.	.	.	.	1	0.29769	N	.	.	.	2.5	0.14408	T	-0.76	0.21215	N	0.196	0.21580	-1.0282	0.21038	T	0.109	0.39344	T	8	0.004123658	0.00081	T	0.00924	0.24272	T	0.058	0.16647	.	.	0.4787715885	0.47508	0.09131652824619568	0.09064	.	.	.	.	.	0.050127	0.28506	T	-0.621179	0.00108	T	-0.665201	0.07919	T	0.0164313470671056	0.00409	T	0.742326	0.36163	T	.	.	.	.	.	.	.	.	-5.461	0.41502	T	.	.	0.108	0.20469	B	.;.;.	.;.;.	2.699390	0.35258	19.85	0.99600456848785202	0.74160	0.53878	0.29478	D	AEFDBI	0.158602	0.28428	N	-0.229173433894328	0.31940	1.796184	-0.297510049414732	0.28180	1.569171	0.990705556903588	0.32242	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	5.56	3.77	0.42499	4.016000	0.56871	4.687000	0.44347	0.549000	0.26987	0.995000	0.38783	0.998000	0.33993	0.496000	0.28927	0.0:0.851:0.0:0.149	11.058	0.47147	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1891.71	35	chr7	51083133	.	C	T	1891.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.209;DP=847;ExcessHet=0;FS=1.848;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.655;SOR=0.799	GT:AD:DP:GQ:PL	0/1:93,83:176:99:1905,0,2155	17	0	1	1
chr7	64543719	64543719	C	G	exonic	ZNF680	.	nonsynonymous SNV	ZNF680:NM_001130022:exon3:c.G241C:p.A81P,ZNF680:NM_178558:exon3:c.G241C:p.A81P	.	440	1069	13	0	0	13	0.0060437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00171976340089	0.0034	0.00119808	0.0035	0.0008	0.0025	0	0.0015	0.0051	0.0022	0.0021	0.0033311	515	154602	rs112490324	0.0039	0.0039	0.0039	0.0040	0.0078	0.0038	0.0038	0.0060	0.0054	0.0011	0.0029	0.0086	0	0.0017	0.0078	0.0043	0.0040	0.0019	0.0032	0.0032	0.0033	0.0031	0.0049	0.0030	0.0029	0.0045	0.0043	0.0006	0	0.0045	0.0072	0	0.0015	0.0136	0.0049	0.0033	0.0019	0.017	0.51248	D	0.043	0.55341	D	0.838	0.46404	P	0.278	0.40236	B	.	.	.	.	1	0.08975	N	0.99	0.25021	L	3.42	0.05507	T	-2.61	0.67477	D	0.17	0.23253	-1.0476	0.15073	T	0.031	0.13374	T	8	0.005279571	0.00115	T	0.00172	0.02882	T	0.038	0.09825	.	.	0.322786055943	0.31880	0.0602508922735215	0.05965	0.124561853899	0.14028	0.35516256094	0.18680	T	0.020367	0.16051	T	-0.58247	0.00186	T	-0.609598	0.12017	T	0.0196497537264565	0.00668	T	0.586041	0.28093	T	0.45372492	0.64277	0.5408741	0.73465	0.45372492	0.64278	0.5408741	0.73466	-8.615	0.65189	D	.	.	0.104	0.28778	B	.;.	.;.	1.615177	0.20636	14.84	0.99313782317668886	0.59092	0.12261	0.17160	N	AEFBI	0.077074	0.15521	N	-0.318439429010899	0.28449	1.56917	-0.547312338385765	0.20878	1.126815	0.00212608985284233	0.09174	0.562547	0.31514	0	0.546412	0.12157	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	0.665	0.665	0.17066	0.003000	0.12984	.	.	0.327000	0.19478	0.001000	0.13787	0.000000	0.08366	0.628000	0.32104	.	.	.	809	0.43032	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	0.005539	0.005051	0.008152	0.000000	0.100000	0.008621	0.006098	0.000000	0.02632	2196.33	37	chr7	64543719	.	C	G	2196.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.348;DP=825;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=-1.195;SOR=0.737	GT:AD:DP:GQ:PL	0/1:84,92:176:99:2210,0,2068	18	0	1	0
chr7	80663008	80663008	C	T	exonic	CD36	.	stopgain	CD36:NM_001127444:exon4:c.C448T:p.Q150X,CD36:NM_001289908:exon4:c.C448T:p.Q150X,CD36:NM_001289911:exon4:c.C220T:p.Q74X,CD36:NM_001127443:exon5:c.C448T:p.Q150X,CD36:NM_000072:exon6:c.C448T:p.Q150X,CD36:NM_001001547:exon6:c.C448T:p.Q150X,CD36:NM_001001548:exon6:c.C448T:p.Q150X,CD36:NM_001371074:exon6:c.C448T:p.Q150X,CD36:NM_001371075:exon6:c.C448T:p.Q150X,CD36:NM_001371077:exon6:c.C448T:p.Q150X,CD36:NM_001371078:exon6:c.C448T:p.Q150X,CD36:NM_001371079:exon6:c.C346T:p.Q116X	Platelet glycoprotein IV deficiency, Autosomal recessive	4	1517	1	0	0	1	0.000329489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.363e-06	1.376e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.539129	0.11555	N	0.786286	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.759	0.78832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.674841	0.92960	33	0.99444905932074756	0.64971	0.31490	0.24350	N	AEFCI	0.447379	0.50304	N	0.296369629643064	0.55964	3.760622	-0.0424440524151829	0.37820	2.219548	0.719866118457187	0.22919	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.06	3.19	0.35720	-0.055000	0.11763	-0.042000	0.12656	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.471000	0.28363	0.142:0.7214:0.1366:0.0	11.446	0.49369	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	622.33	34	chr7	80663008	.	C	T	622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.519;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=1.08;SOR=0.854	GT:AD:DP:GQ:PL	0/1:29,26:55:99:636,0,694	18	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2467.21	234	chr7	93102964	.	C	G	2467.21	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.872;DP=2943;ExcessHet=11.1788;FS=134.431;InbreedingCoeff=-0.4896;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.682;SOR=12.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,40:191:99:0|1:93102964_C_G:135,0,5072:93102964	7	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,40:191:99:0|1:93102964_C_G:135,0,5072:93102964	5	0	14	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L,BET1:NM_005868:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	140.19	80	chr7	93996297	.	C	G	140.19	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.925;DP=1871;ExcessHet=1.3;FS=322.429;InbreedingCoeff=-0.1734;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.561;SOR=12.381	GT:AD:DP:GQ:PL	0/1:103,31:141:27:27,0,2074	14	0	5	0
chr7	97020967	97020967	C	T	exonic	DLX5	.	nonsynonymous SNV	DLX5:NM_005221:exon3:c.G639A:p.M213I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510	0.163721524293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.362e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.375	0.16231	T	0.65	0.40644	P	0.244	0.38795	B	0.000000	0.84330	D	0.077482	1	0.81001	D	2.57	0.75187	M	-2.47	0.88997	D	-2.64	0.56630	D	0.505	0.53708	0.259	0.86900	D	0.664	0.88351	D	10	0.56057286	0.64764	D	0.163722	0.84299	D	0.510	0.78971	0.181	0.08877	0.845448832506	0.84397	0.527979313041861	0.52721	0.821256584542	0.67188	0.73449331522	0.72164	T	0.539997	0.84233	D	0.202574	0.74132	D	0.0532074	0.73796	D	0.959468245506287	0.65541	D	0.909509	0.67973	D	0.5435138	0.69593	0.56731963	0.74952	0.5435138	0.69594	0.56731963	0.74953	-4.729	0.33754	T	0.3437996557606842	0.44140	0.968	0.89154	P	.;.	.;.	4.827517	0.78691	26.9	0.98681973380670107	0.44624	0.97200	0.73280	D	AEFDBCI	0.883341	0.81216	D	0.456330723985142	0.64563	4.713698	0.521401877549672	0.69433	5.359602	0.999999941005407	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	5.08	5.08	0.68373	7.871000	0.85545	7.666000	0.64515	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.677	0.91491	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1792.33	35	chr7	97020967	.	C	T	1792.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.292;DP=746;ExcessHet=0;FS=2.358;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.151;SOR=0.709	GT:AD:DP:GQ:PL	0/1:49,72:121:99:1806,0,1286	18	0	1	0
chr7	99506111	99506111	G	A	exonic	ZKSCAN5	.	nonsynonymous SNV	ZKSCAN5:NM_001318082:exon2:c.G67A:p.E23K,ZKSCAN5:NM_001318083:exon2:c.G67A:p.E23K,ZKSCAN5:NM_014569:exon2:c.G67A:p.E23K,ZKSCAN5:NM_145102:exon2:c.G67A:p.E23K	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.00599908789703	7.7e-05	.	0.0005	0	8.645e-05	0	0	2.998e-05	0.0022	0.0032	0.0003687	57	154602	rs371090562	0.0002	0.0002	0.0001	0.0004	0.0039	0.0002	0.0002	0.0036	0.0034	0	2.236e-05	0	0	0	0.0002	6.295e-06	0.0001	0.0039	7.879e-05	7.874e-05	1.285e-05	0.0001	0.0025	4.493e-05	3.51e-05	0.0014	0.0011	0	0	0	0	0	0	0	0	0	0.0025	0.043	0.41364	D	0.016	0.60972	D	0.455	0.36245	P	0.111	0.31539	B	0.001793	0.37998	N	0.118422	0.904579	0.27633	N	2.72	0.79541	M	3.3	0.06368	T	-1.42	0.34992	N	0.277	0.31365	-1.0642	0.10736	T	0.025	0.10821	T	10	0.00969252	0.00218	T	0.005999	0.15668	T	0.088	0.25558	.	.	0.585653999902	0.58239	0.49739089849747825	0.49660	0.511807434683	0.49245	0.482318043709	0.36377	T	0.058714	0.30917	T	-0.457879	0.01013	T	-0.433224	0.29570	T	0.0905482601935388	0.11284	T	0.167383	0.01560	T	0.19092715	0.40698	0.18723531	0.41943	0.19092715	0.40698	0.18723531	0.41942	-6.554	0.50701	T	.	.	0.163	0.35992	B	.;.;.	.;.;.	4.013045	0.59210	24.1	0.99909402415945037	0.97949	0.85466	0.44601	D	AEFDGBCI	0.247831	0.36834	N	0.302432180864588	0.56273	3.791787	0.364936357601082	0.59413	4.118826	0.999999999999152	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.581341	0.30212	0	0.627883	0.49187	0	.	.	4.83	4.83	0.61880	3.246000	0.51115	8.308000	0.76942	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	13.619	0.61593	326	0.86709	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.02632	1947.33	33	chr7	99506111	.	G	A	1947.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.544;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.369;SOR=0.738	GT:AD:DP:GQ:PL	0/1:90,82:172:99:1961,0,2292	18	0	1	0
chr7	100118468	100118468	T	C	exonic	TAF6	.	nonsynonymous SNV	TAF6:NM_001365004:exon2:c.A7G:p.T3A	Alazami-Yuan syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	6.575e-06	0	1.352e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07692	35.75	1	chr7	100118468	.	T	C	35.75	.	AC=2;AF=0.077;AN=26;DP=28;ExcessHet=0;FS=0;InbreedingCoeff=0.3162;MLEAC=2;MLEAF=0.077;MQ=60;QD=17.88;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	12	1	0	6
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,70:123:99:0|1:100175805_G_C:1775,0,1430:100175805	1	0	18	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,104:104:99:1|1:100773849_CCAT_C:4680,313,0:100773849	3	9	7	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,118:118:99:5302,360,0	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,138:505:99:0|1:100952942_T_G:4892,0,12182:100952942	5	0	14	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	17482.0	771	chr7	100953156	.	C	*	17482.0	.	AC=12;AF=0.316;AN=38;BaseQRankSum=7.09;DP=10360;ExcessHet=48.2876;FS=8.453;InbreedingCoeff=-1;MLEAC=12;MLEAF=0.316;MQ=57.49;MQRankSum=-15.74;QD=1.71;ReadPosRankSum=0.097;SOR=1.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,84:488:99:0|1:100953098_G_C:2434,0,14989:100953098	7	0	12	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	1350.84	756	chr7	100953158	.	G	*	1350.84	.	AC=17;AF=0.447;AN=38;BaseQRankSum=3.94;DP=10155;ExcessHet=48.2876;FS=12.382;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.51;MQRankSum=-16.03;QD=0.14;ReadPosRankSum=0.292;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:365,78:484:99:0|1:100953098_G_C:2176,0,15091:100953098	2	0	17	0
chr7	100955174	100955177	CGAT	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1686.78	477	chr7	100955174	.	CGAT	*	1686.78	.	AC=5;AF=0.132;AN=38;BaseQRankSum=3.17;DP=6403;ExcessHet=2.0135;FS=13.466;InbreedingCoeff=-0.1878;MLEAC=5;MLEAF=0.132;MQ=57.98;MQRankSum=-8.168;QD=0.73;ReadPosRankSum=-2.426;SOR=2.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,23:305:99:0|1:100955118_C_T:117,0,11772:100955118	14	0	5	0
chr7	100955175	100955175	G	0	exonic	MUC3A	.	.	.	.	498	860	77	0	87	164	0.0428492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	671.78	473	chr7	100955175	.	G	*	671.78	.	AC=3;AF=0.083;AN=36;BaseQRankSum=2.35;DP=6379;ExcessHet=2.0135;FS=14.502;InbreedingCoeff=-0.2066;MLEAC=3;MLEAF=0.083;MQ=58.56;MQRankSum=-15.13;QD=0.29;ReadPosRankSum=-1.114;SOR=2.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,23:305:99:0|1:100955118_C_T:117,0,11772:100955118	15	0	3	1
chr7	100999834	100999834	G	A	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G9271A:p.A3091T	.	462	1038	22	0	0	22	0.0104862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.0118805894723	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs147697272	4.529e-06	0.0003	2.979e-06	6.122e-06	1.336e-05	1.63e-06	1.07e-06	1.42e-06	1.03e-06	0	0	0	0	0	0	4.835e-06	0	1.336e-05	0.0001	0.0034	0.0001	0.0001	0.0003	7.688e-05	6.373e-05	0.0002	0.0002	0.0003	0	6.612e-05	0	0	9.446e-05	0	2.97e-05	0	0.0002	0.117	0.28271	T	0.25	0.23707	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.55	0.14455	N	2.65	0.12676	T	0.38	0.03700	N	0.026	0.03283	-0.9374	0.43025	T	0.013	0.04938	T	7	0.05045861	0.04783	T	0.011881	0.29939	T	0.001	0.00016	0.116	0.02439	0.0297737177859	0.01360	0.010246021458631826	0.00986	.	.	0.509776294231	0.40191	T	0.00365	0.03060	T	-0.41745	0.01776	T	-0.837414	0.01138	T	0.0442432217210362	0.04464	T	0.232777	0.03611	T	0.02471517	0.01331	0.040714942	0.04463	0.02471517	0.01331	0.040714942	0.04463	-2.016	0.03242	T	.	.	0.099	0.16582	B	.;.	.;.	-0.465638	0.01980	0.173	0.79908635840154496	0.12956	0.00180	0.01055	N	AEFI	0.030282	0.03017	N	-1.33470684704216	0.03286	0.1465343	-1.48318087727813	0.02482	0.1142237	1.19783675759286E-5	0.02871	0.638212	0.43195	0	0.670034	0.63936	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.869	-0.109	0.12922	-0.982000	0.03873	-8.331000	0.00988	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2687:0.0:0.7313:0.0	4.332	0.10507	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	.	.	.	.	.	.	.	.	0.02632	134.33	214	chr7	100999834	.	G	A	134.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.965;DP=2044;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=32.08;MQRankSum=-5.588;QD=0.71;ReadPosRankSum=-1.567;SOR=0.023	GT:AD:DP:GQ:PL	0/1:164,24:188:99:148,0,5272	18	0	1	0
chr7	101034612	101034612	C	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.C3196G:p.P1066A	.	423	980	102	9	8	128	0.0576923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0010864451499	.	0.000399361	0.0003	0	8.639e-05	0.0001	0	0.0003	0	0.0005	0.0002264	35	154602	rs78263695	9.652e-05	9.921e-05	7.356e-05	0.0001	0.0014	8.315e-05	7.855e-05	0.0007	0.0005	0	4.477e-05	0	0	1.873e-05	0.0014	6.747e-05	0.0002	0.0005	9.205e-05	9.854e-05	9.007e-05	9.412e-05	0.0002	5.531e-05	4.367e-05	9.047e-05	7.012e-05	2.417e-05	0	6.544e-05	0	0	0	0	0.0002	0	0.0002	0.13	0.26740	T	.	.	.	0.544	0.37968	P	0.095	0.30245	B	.	.	.	.	0.99997	0.18612	N	2.035	0.55589	M	4.04	0.03121	T	0.05	0.06369	N	0.045	0.01740	-0.9085	0.47037	T	0.005	0.01651	T	9	0.022467583	0.00562	T	0.001086	0.01263	T	0.027	0.05988	0.104	0.01698	0.0297737177859	0.01360	0.001187076941771632	0.00109	.	.	0.199309319258	0.00437	T	0.018844	0.15118	T	-0.62574	0.00102	T	-0.808648	0.01695	T	0.0201804642983436	0.00718	T	0.448055	0.12582	T	0.018036293	0.00325	0.030982615	0.01624	0.018036293	0.00325	0.030982615	0.01624	-7.662	0.58743	D	.	.	0.075	0.05491	B	.	.	-1.641980	0.00220	0.003	0.40209710243365476	0.02823	0.00436	0.02133	N	AEFGBI	0.048602	0.08311	N	-1.31300172886873	0.03525	0.1576335	-1.46253417212837	0.02659	0.12267	5.07649647380326E-4	0.07176	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	0.373	-0.746	0.10535	-6.271000	0.00089	-20.000000	0.00162	-1.852000	0.00570	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6741:0.0:0.3259	4.476	0.11155	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	14586.8	2155	chr7	101034612	.	C	G	14586.8	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.54;DP=20326;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.026;MQ=59.47;MQRankSum=3.61;QD=7.91;ReadPosRankSum=2.71;SOR=0.735	GT:AD:DP:GQ:PL	0/1:382,329:711:99:8794,0,10295	18	0	1	0
chr7	103483818	103483818	A	G	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon62:c.T10016C:p.M3339T,RELN:NM_173054:exon62:c.T10016C:p.M3339T	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	0	225	1	0	0	1	0.00221729	.	.	.	177244	Inborn_genetic_diseases|not_provided|not_specified|Norman-Roberts_syndrome|Familial_temporal_lobe_epilepsy_7	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.018	0.00177242675502	0.0002	.	3.297e-05	0.0004	0	0	0	0	0	0	2.59e-05	4	154602	rs150638029	2.258e-05	2.257e-05	2.042e-05	2.475e-05	0.0002	1.61e-05	1.417e-05	9.752e-05	6.952e-05	0.0002	2.236e-05	0	0	0	0	1.979e-05	4.969e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.698e-05	0.0004	0.0003	0.0006	0	6.541e-05	0	0	0	0	0	0	0	0.336	0.12878	T	0.404	0.14818	T	0.0	0.02946	B	0.0	0.01387	B	0.321778	0.14259	N	0.695276	1	0.08975	N	0	0.06538	N	2.07	0.20387	T	1.04	0.01387	N	0.061	0.15609	-0.9618	0.38839	T	0.021	0.08824	T	10	0.03701806	0.02032	T	0.001772	0.03012	T	0.018	0.03083	.	.	0.043077524339	0.03247	0.21052742979368264	0.20968	0.340885797724	0.36025	0.236097872257	0.02450	T	0.036024	0.23947	T	-0.552357	0.00282	T	-0.677166	0.07157	T	0.0123297693615755	0.00200	T	0.509649	0.16214	T	0.032797642	0.03374	0.07573636	0.16704	0.032797642	0.03374	0.07573636	0.16703	-1.889	0.03070	T	0.0333539999583252	0.00142	0.046	0.00056	B	.;.;.	.;.;.	-0.479913	0.01932	0.164	0.58631687110829256	0.06037	0.01621	0.05236	N	AEFBI	0.149561	0.27367	N	-1.25798363121782	0.04196	0.1888923	-1.14306623530403	0.06893	0.3333748	0.0257212097713017	0.13667	0.623552	0.39893	0	0.563428	0.19063	0	0.573888	0.23631	0	0.579976	0.35079	0	.	.	5.64	2.87	0.32523	1.457000	0.34822	1.828000	0.29093	-1.540000	0.00981	0.019000	0.19563	0.008000	0.19753	0.046000	0.14843	0.4314:0.0:0.5686:0.0	8.005	0.29482	846	0.36215	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	779.33	33	chr7	103483818	.	A	G	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.25;DP=682;ExcessHet=0;FS=10.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.912;SOR=0.136	GT:AD:DP:GQ:PL	0/1:27,31:58:99:793,0,756	18	0	1	0
chr7	105613788	105613788	C	T	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_001318229:exon10:c.G1898A:p.R633Q	.	343	1128	47	4	0	55	0.0237992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	.	0.00279553	0.0070	0.0033	0.0118	0	0.0031	0.0122	0.0087	0.0038	0.0023156	358	154602	rs150948758	0.0075	0.0072	0.0077	0.0074	0.0488	0.0074	0.0074	0.0440	0.0422	0.0030	0.0061	0.0188	5.605e-05	0.0016	0.0488	0.0079	0.0091	0.0043	0.0061	0.0061	0.0061	0.0062	0.0112	0.0058	0.0057	0.0099	0.0093	0.0019	0.0011	0.0112	0.0161	0.0004	9.411e-05	0.0748	0.0082	0.0104	0.0039	1.0	0.00964	T	0.586	0.08332	T	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	2.3	0.16953	T	-0.23	0.10656	N	.	.	-0.9613	0.38936	T	0.010	0.03719	T	8	0.0031974912	0.00054	T	.	.	.	0.003	0.00094	.	.	0.285698343383	0.28168	.	.	.	.	.	.	.	0.00299	0.02391	T	-0.698583	0.00037	T	-0.768424	0.02820	T	0.00153828558999846	0.00016	T	0.530047	0.17581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.04356	B	.;.	.;.	0.257686	0.06365	2.828	0.33731589378881932	0.02025	0.00246	0.01361	N	AEFDBCI	0.020237	0.00780	N	-1.6761752421521	0.00930	0.04025665	-1.77662531413548	0.00837	0.03738711	0.999917394399403	0.45857	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.41	-6.95	0.01470	-0.178000	0.09775	-0.722000	0.07700	-1.563000	0.00944	0.264000	0.24988	0.002000	0.18203	0.240000	0.23001	0.1218:0.3483:0.124:0.4059	2.482	0.04309	921	0.19240	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4414.83	86	chr7	105613788	.	C	T	4414.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.43;DP=1301;ExcessHet=0.119;FS=1.322;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=1.84;SOR=0.604	GT:AD:DP:GQ:PL	0/1:71,86:157:99:2377,0,1758	17	0	2	0
chr7	112337735	112337735	G	C	exonic	ZNF277	.	nonsynonymous SNV	ZNF277:NM_021994:exon9:c.G875C:p.W292S	.	435	1085	2	0	0	2	0.00092081	.	.	.	2342999	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.499	0.0456058614542	.	.	2.48e-05	0	0	0	0	4.507e-05	0	0	1.94e-05	3	154602	rs760372336	1.919e-05	1.984e-05	1.637e-05	2.204e-05	0.0019	1.331e-05	1.146e-05	0.0011	0.0008	0	0	0	0	0	0.0019	1.35e-05	3.317e-05	0	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	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.79	0.46772	L	0.77	0.49642	T	-11.85	0.99692	D	0.806	0.80180	-0.7823	0.56172	T	0.234	0.60087	T	10	0.8720745	0.86479	D	0.045606	0.62061	D	0.499	0.78288	.	.	0.536194329819	0.53270	0.6037837211665179	0.60309	0.677374921778	0.59825	0.658060789108	0.61132	T	0.298546	0.67110	T	0.20134	0.74016	D	0.181886	0.82105	D	0.977019011974335	0.71645	D	0.893711	0.63166	D	0.9699461	0.98255	0.9443921	0.98051	0.9699461	0.98255	0.9443921	0.98052	-13.828	0.92485	D	.	.	0.800	0.78299	P	.;.	.;.	5.472770	0.91291	32	0.9891789865080276	0.48491	0.99478	0.96523	D	AEFBI	0.920812	0.89335	D	0.749545862525416	0.82876	7.872159	0.792642956531206	0.89279	9.909584	0.999999999999825	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.93	5.93	0.95888	9.368000	0.96553	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.910000	0.44547	0.0:0.0:1.0:0.0	20.349	0.98808	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	860.33	36	chr7	112337735	.	G	C	860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=699;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=0.211;SOR=0.506	GT:AD:DP:GQ:PL	0/1:37,37:74:99:874,0,857	18	0	1	0
chr7	117610521	117610521	G	C	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon19:c.G2991C:p.L997F	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	11	1491	20	0	0	20	0.00666223	.	.	YES	22268	Pancreatitis|Infertility_disorder|Obstructive_azoospermia|not_specified|.|.|Cystic_fibrosis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Hereditary_pancreatitis|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|not_provided|CFTR-related_disorder	Human_Phenotype_Ontology:HP:0001733,MONDO:MONDO:0004982,MedGen:C0030305|Human_Phenotype_Ontology:HP:0000789,MONDO:MONDO:0005047,MedGen:C0021359|Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106|MedGen:CN169374|.|.|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033|MedGen:C3661900|MedGen:C5924204	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.625	0.122468007951	0.0015	0.00179712	0.0021	0.0003	0.0033	0	0	0.0028	0.0056	0.0012	0.0020375	315	154602	rs1800111	0.0018	0.0018	0.0017	0.0019	0.0082	0.0017	0.0017	0.0063	0.0056	0.0004	0.0045	0.0057	2.523e-05	5.623e-05	0.0082	0.0017	0.0034	0.0014	0.0021	0.0021	0.0021	0.0021	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0058	0	0	0.0035	0.0024	0.0048	0.0013	0.053	0.45039	T	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999833	0.49637	D	1.825	0.47900	L	-2.52	0.89363	D	-1.01	0.26639	N	0.947	0.95491	0.205	0.85998	D	0.635	0.87219	D	10	0.02057156	0.00476	T	0.122468	0.80344	D	0.625	0.85511	0.73	0.86373	0.999745636659	0.99974	0.9270361156120207	0.92681	0.00453241386877	0.00400	0.589679062366	0.51448	T	0.585465	0.86490	D	-0.0673161	0.41755	T	0.138205	0.79429	D	0.0292856887522522	0.01880	T	0.964804	0.86967	D	0.6127058	0.73373	0.3455561	0.60236	0.64504117	0.75101	0.38016403	0.63054	-7.931	0.60599	D	0.6509694308403594	0.72309	0.741	0.74667	P	.;.;.;.;.	.;.;.;.;.	3.349901	0.46200	22.3	0.99856159323614746	0.93458	0.81794	0.41128	D	AEFDI	0.677697	0.64231	D	0.402658447996314	0.61569	4.35973	0.334515465865812	0.57580	3.924215	0.0440736209205392	0.14597	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.02	2.87	0.32523	1.651000	0.36918	3.812000	0.39914	0.676000	0.76740	0.952000	0.33172	1.000000	0.68203	0.957000	0.51019	0.3918:0.0:0.4021:0.2061	2.683	0.04782	853	0.34956	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.010070	0.035354	0.008152	0.000000	0.000000	0.008621	0.015244	0.000000	0.02632	1351.33	33	chr7	117610521	.	G	C	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.508;DP=804;ExcessHet=0;FS=0.823;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.68;SOR=0.59	GT:AD:DP:GQ:PL	0/1:46,52:98:99:1365,0,1194	18	0	1	0
chr7	127584383	127584383	C	T	exonic	GCC1	.	nonsynonymous SNV	GCC1:NM_024523:exon1:c.G800A:p.R267K	.	420	1043	58	1	0	60	0.027959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0018	0.00638978	0.0056	0.0004	0.0016	0	0.0005	0.0026	0.0066	0.0291	0.0050517	781	154602	rs138102764	0.0034	0.0034	0.0026	0.0043	0.0279	0.0033	0.0033	0.0270	0.0266	0.0003	0.0023	0.0006	0	0.0004	0.0229	0.0019	0.0038	0.0279	0.0027	0.0027	0.0023	0.0030	0.0303	0.0024	0.0024	0.0263	0.0248	0.0006	0	0.0043	0.0009	0	0.0008	0.0102	0.0022	0.0033	0.0303	0.453	0.08917	T	0.488	0.11621	T	0.001	0.07471	B	0.003	0.08700	B	0.000667	0.42516	D	0.190780	0.999648	0.20796	N	0.485	0.13215	N	1.38	0.34050	T	0.28	0.04233	N	0.041	0.01421	-1.0614	0.11410	T	0.033	0.14247	T	10	0.0024884343	0.00037	T	.	.	.	0.039	0.10176	.	.	0.259272394797	0.25527	0.14846000036410614	0.14767	0.290926297989	0.31498	0.41342741251	0.26931	T	0.003942	0.03353	T	-0.612989	0.00121	T	-0.632343	0.10237	T	0.011415544642949	0.00170	T	0.758424	0.38228	T	0.17335048	0.38077	0.1152832	0.27828	0.17335048	0.38077	0.1152832	0.27828	-3.592	0.17742	T	.	.	0.078	0.06942	B	.	.	1.632260	0.20842	14.93	0.95869824457554875	0.28044	0.15793	0.19084	N	AEFDBCI	0.118305	0.23139	N	-0.647524857567942	0.17533	0.9029837	-0.502813967842771	0.22076	1.197333	0.999998908618464	0.74766	0.627647	0.40530	0	0.685571	0.66316	0	0.672317	0.60874	0	0.657601	0.63696	0	.	.	5.91	4.85	0.62375	1.417000	0.34378	1.721000	0.28260	0.599000	0.40250	0.036000	0.20778	0.929000	0.28499	0.989000	0.64315	0.0:0.9112:0.0:0.0888	13.206	0.59220	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	0.014602	0.000000	0.014946	0.017544	0.000000	0.017241	0.015244	0.022727	0.07895	6862.79	43	chr7	127584383	.	C	T	6862.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.111;DP=1094;ExcessHet=0.3672;FS=1.096;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.496;SOR=0.74	GT:AD:DP:GQ:PL	0/1:81,97:178:99:2608,0,2157	16	0	3	0
chr7	127598540	127598540	C	T	exonic	FSCN3	.	nonsynonymous SNV	FSCN3:NM_020369:exon4:c.C1066T:p.R356C	.	426	1072	23	1	0	25	0.011526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	.	0.0005	0.00339457	0.0023	9.653e-05	0.0002	0	0	0.0004	0	0.0154	0.0020116	311	154602	rs149091891	0.0011	0.0011	0.0007	0.0015	0.0138	0.0010	0.0010	0.0131	0.0129	2.988e-05	0.0001	0	2.521e-05	1.874e-05	0.0054	0.0002	0.0013	0.0138	0.0007	0.0007	0.0003	0.0011	0.0176	0.0006	0.0005	0.0146	0.0135	9.621e-05	0	6.533e-05	0	0	0	0.0034	0.0002	0.0005	0.0176	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000006	0.62929	D	0.000000	0.999261	0.46490	D	2.62	0.76659	M	1.38	0.34050	T	-4.87	0.81269	D	0.605	0.62273	-0.6915	0.60838	T	0.234	0.60087	T	10	0.020981848	0.00493	T	.	.	.	0.304	0.62510	.	.	0.386395597597	0.38251	0.6168742186487184	0.61619	0.134104846384	0.15106	0.377240300179	0.21864	T	0.064198	0.32372	T	-0.383752	0.02949	T	-0.311686	0.43478	T	0.138950188390139	0.16185	T	0.771723	0.40231	T	0.4420658	0.63536	0.24375392	0.49826	0.4420658	0.63536	0.24375392	0.49825	-5.092	0.37823	T	.	.	0.088	0.11893	B	.	.	3.300056	0.45293	22.1	0.99913687880934432	0.98238	0.71390	0.34992	D	ALL	0.183497	0.31082	N	0.341465775480458	0.58291	4.000429	0.276168532818719	0.54151	3.581018	0.999999999155058	0.74766	0.65861	0.49226	0	0.615948	0.52940	0	0.440796	0.06475	0	0.345915	0.05782	2	.	.	5.94	4.16	0.48138	1.757000	0.38029	1.466000	0.26718	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.117000	0.19042	0.0:0.8346:0.0:0.1654	9.224	0.36554	0	0.99858	Fascin domain|Fascin 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	0.000000	0.000000	0.000000	0.009146	0.003788	0.05263	2047.83	35	chr7	127598540	.	C	T	2047.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.49;DP=794;ExcessHet=0.119;FS=1.804;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.872;SOR=0.845	GT:AD:DP:GQ:PL	0/1:60,44:104:99:1129,0,1410	17	0	2	0
chr7	128337176	128337176	C	T	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_001166135:exon2:c.G145A:p.V49M,RBM28:NM_018077:exon6:c.G568A:p.V190M	.	.	.	.	.	.	.	.	.	.	.	3586019	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.157	0.105245624481	.	.	4.118e-05	0	8.637e-05	0	0	2.997e-05	0	0.0001	3.23e-05	5	154602	rs756076073	3.352e-05	3.42e-05	2.178e-05	4.538e-05	0.0002	2.566e-05	2.312e-05	0.0002	0.0001	0	8.944e-05	0	2.519e-05	0	0.0002	1.709e-05	6.624e-05	0.0002	1.314e-05	1.313e-05	0	2.691e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.006	0.72154	D	0.009	0.70582	D	0.996	0.68779	D	0.874	0.62049	P	0.000035	0.55875	D	0.122178	0.999973	0.53665	D	1.35	0.33515	L	-2.9	0.91643	D	-2.14	0.51157	N	0.632	0.64563	0.881	0.95414	D	0.858	0.95258	D	10	0.32484144	0.49802	T	0.105246	0.78026	D	0.157	0.40909	0.308	0.27967	0.988034867267	0.98790	0.30961620595165934	0.30874	0.609432728361	0.55677	0.507495105267	0.39872	T	0.02965	0.21200	T	-0.00783527	0.50566	T	-0.0233295	0.68809	D	0.309759882887339	0.25404	T	0.924008	0.72230	D	0.15706284	0.35411	0.17447166	0.39845	0.15706284	0.35410	0.17447166	0.39844	-8.887	0.66966	D	.	.	0.380	0.67403	A	.;.;.	.;.;.	4.861002	0.79544	27.1	0.99892894189072501	0.96666	0.95748	0.65986	D	AEFBI	0.342750	0.43880	N	0.710365724197165	0.80311	7.266556	0.688139914106594	0.81479	7.536025	0.99999999809373	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.43	5.43	0.79006	3.858000	0.55690	5.896000	0.50824	0.594000	0.32500	0.997000	0.40164	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	16.749	0.85341	647	0.63344	RNA recognition motif domain;.;RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1750.33	33	chr7	128337176	.	C	T	1750.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=759;ExcessHet=0;FS=4.17;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-1.158;SOR=0.423	GT:AD:DP:GQ:PL	0/1:65,69:134:99:1764,0,1460	18	0	1	0
chr7	142161153	142161153	G	T	exonic	MGAM2	.	nonsynonymous SNV	MGAM2:NM_001293626:exon22:c.G2374T:p.A792S	.	429	1089	2	0	2	4	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.0421442757924	.	.	.	.	.	.	.	.	.	.	.	.	.	rs767610531	2.18e-05	1.908e-05	2.773e-05	1.678e-05	0.0005	1.162e-05	9.18e-06	0.0002	0.0001	0.0004	0	0	0	0	0.0005	9.472e-06	3.269e-05	0	6.573e-05	6.568e-05	3.855e-05	9.419e-05	0.0002	3.518e-05	2.617e-05	0.0001	8.457e-05	0.0002	0	6.548e-05	0	0	0	0	0	0	0	0.032	0.44694	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.93	0.61284	D	0.714	0.71676	-0.1665	0.78512	T	0.377	0.73453	T	4	0.76444423	0.76594	D	0.042144	0.60309	D	0.237	0.54074	0.537	0.64730	0.132336055621	0.12781	0.5204417097863002	0.51967	.	.	.	.	.	0.121784	0.44499	T	0.0180597	0.54120	T	-0.211835	0.53520	T	0.973075866699219	0.69949	D	.	.	.	0.103423305	0.24446	0.23010868	0.48103	0.103423305	0.24445	0.23010868	0.48102	-8.345	0.63398	D	.	.	0.261	0.49577	B	.	.	4.018992	0.59351	24.1	0.99754110701727716	0.84537	0.98147	0.80004	D	AEFI	0.884496	0.81422	D	0.382889745901173	0.60494	4.238985	0.411585928412378	0.62284	4.441444	0.994775154192988	0.33794	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	6.482000	0.73521	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.111000	0.18785	0.0:0.0:1.0:0.0	16.03	0.80374	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	.	.	.	.	.	.	.	.	0.02632	1101.33	38	chr7	142161153	.	G	T	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.165;DP=762;ExcessHet=0;FS=0.793;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.04;SOR=0.704	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1115,0,1109	18	0	1	0
chr7	143026640	143026640	G	A	exonic	OR9A2	.	nonsynonymous SNV	OR9A2:NM_001001658:exon1:c.C493T:p.R165C	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.00271879748178	0.0016	0.00119808	0.0016	0.0005	0.0014	0	0	0.0021	0.0022	0.0018	0.0014359	222	154602	rs143573729	0.0013	0.0013	0.0012	0.0014	0.0031	0.0012	0.0012	0.0020	0.0018	0.0004	0.0018	0.0052	5.038e-05	3.744e-05	0.0031	0.0012	0.0019	0.0021	0.0015	0.0015	0.0015	0.0015	0.0043	0.0013	0.0013	0.0035	0.0032	0.0006	0.0022	0.0043	0.0052	0	0	0	0.0016	0.0009	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000513	0.43753	N	0.000000	0.86264	0.28331	N	-3.205	0.00008	N	9.03	0.00019	T	11.77	0.00000	N	0.13	0.12484	-1.0071	0.27819	T	0.000	0.00039	T	10	0.0026951432	0.00042	T	0.002719	0.05608	T	0.168	0.42943	.	.	0.168933306366	0.16529	0.12376875590794592	0.12302	0.306744063023	0.32978	0.228850781918	0.01884	T	0.004469	0.03877	T	-0.605174	0.00135	T	-0.648852	0.09034	T	0.00684152600085893	0.00077	T	0.320668	0.06474	T	0.08600857	0.19975	0.06789596	0.14109	0.08600857	0.19974	0.06789596	0.14109	4.191	0.00007	T	.	.	0.050	0.00145	B	.	.	1.367775	0.17776	13.36	0.058653004237077068	0.00016	0.02418	0.06834	N	AEFBI	0.024058	0.01430	N	-1.12932618877057	0.06127	0.2812067	-0.842580662349312	0.13465	0.6986969	0.962879284727133	0.28653	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.53	3.37	0.37692	5.801000	0.68775	5.470000	0.48695	-0.063000	0.16611	1.000000	0.71638	1.000000	0.68203	0.203000	0.21983	0.9037:0.0:0.0963:0.0	8.341	0.31403	851	0.35303	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1964.33	33	chr7	143026640	.	G	A	1964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.3;DP=798;ExcessHet=0;FS=6.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.29;ReadPosRankSum=1.73;SOR=0.565	GT:AD:DP:GQ:PL	0/1:92,82:174:99:1978,0,2250	18	0	1	0
chr7	150477697	150477697	A	G	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon5:c.A1915G:p.N639D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.000843053985186	.	.	8.309e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs771913119	1.573e-05	1.573e-05	1.633e-05	1.513e-05	1.978e-05	1.048e-05	8.75e-06	1.295e-05	1.106e-05	0	0	0	0	0	0	1.978e-05	0	1.159e-05	3.285e-05	3.283e-05	2.569e-05	4.035e-05	5.879e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	2.413e-05	0	0	0	0	0	0	5.879e-05	0	0	0.366	0.11696	T	0.479	0.11933	T	0.0	0.02946	B	0.0	0.01387	B	0.204929	0.03346	N	1.929950	1	0.08975	N	1.01	0.25309	L	3.4	0.05642	T	-0.6	0.17834	N	0.068	0.04072	-0.9434	0.42073	T	0.014	0.05753	T	10	0.049441785	0.04535	T	8.43E-4	0.00713	T	0.070	0.20419	.	.	0.137902524267	0.13322	0.12921437377611653	0.12846	0.163907645768	0.18491	0.290217220783	0.08954	T	0.007121	0.06537	T	-0.458151	0.01009	T	-0.799024	0.01927	T	0.0379345951569962	0.03320	T	0.263374	0.04265	T	0.031382855	0.02967	0.04410007	0.05638	0.031382855	0.02967	0.04410007	0.05637	-1.815	0.02554	T	.	.	0.074	0.05188	B	.	.	-0.350010	0.02406	0.269	0.8644848041050246	0.16543	0.04370	0.09944	N	AEFDBI	0.040440	0.06017	N	-1.42668090876821	0.02406	0.1062223	-1.50704942166295	0.02289	0.1050608	0.999995888187284	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.93	-4.33	0.03423	0.527000	0.22695	-1.483000	0.05337	-0.562000	0.04833	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3333:0.0:0.6667:0.0	11.837	0.51602	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	838.33	27	chr7	150477697	.	A	G	838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.363;DP=722;ExcessHet=0;FS=1.962;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.401;SOR=0.997	GT:AD:DP:GQ:PL	0/1:40,36:76:99:852,0,1018	18	0	1	0
chr7	151381438	151381438	G	C	exonic	WDR86	.	nonsynonymous SNV	WDR86:NM_001284261:exon5:c.C755G:p.A252G,WDR86:NM_001284260:exon6:c.C1339G:p.R447G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0212323707735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.48186	D	0.306	0.19972	T	.	.	.	.	.	.	0.002647	0.00905	N	5.606180	1	0.08975	N	.	.	.	0.12	0.61089	T	-0.29	0.11728	N	0.037	0.01274	-1.0633	0.10950	T	0.101	0.37543	T	9	0.061727226	0.07783	T	0.021232	0.43966	T	0.026	0.05648	0.245	0.17984	0.199424873507	0.19547	.	.	.	.	.	.	.	.	.	.	-0.0635363	0.42354	T	-0.329042	0.41576	T	0.197643116116524	0.20285	T	0.264874	0.04312	T	.	.	.	.	.	.	.	.	-3.066	0.10909	T	.	.	0.093	0.13923	B	.;.	.;.	0.483502	0.08529	5.292	0.95791054517188101	0.27831	0.00526	0.02443	N	AEFDBHCI	0.043908	0.06998	N	-1.19110257567877	0.05134	0.2333241	-1.38009446308921	0.03465	0.1616694	0.999996638109194	0.74766	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	2.27	-4.53	0.03217	-1.493000	0.02403	0.051000	0.14001	-0.467000	0.05102	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.2602:0.4:0.3398:0.0	4.301	0.10369	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	.	.	.	.	.	.	.	.	0.02632	753.33	34	chr7	151381438	.	G	C	753.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.05;DP=693;ExcessHet=0;FS=0.873;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.04;ReadPosRankSum=-0.214;SOR=0.569	GT:AD:DP:GQ:PL	0/1:43,32:75:99:767,0,1008	18	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:183,72:255:99:1121,0,6180	1	0	18	0
chr7	152235831	152235831	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon16:c.G2755C:p.V919L	.	523	804	188	7	0	202	0.111602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	.	.	.	0.3064	0.3892	0.3854	0.3769	0.3614	0.2662	0.3017	0.2987	0.0009221	24	26028	rs111791757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465	0.08609	T	.	.	.	0.005	0.12996	B	0.006	0.12133	B	0.000997	0.40743	D	0.000000	0.909796	0.27531	N	1.04	0.26193	L	-1.76	0.83578	D	-0.87	0.23590	N	0.351	0.39254	-0.7817	0.56206	T	0.290	0.66182	T	10	0.001721412	0.00022	T	.	.	.	0.190	0.46781	.	.	.	.	0.3939079229526045	0.39305	1.16460324479	0.79582	0.551522254944	0.46072	T	0.082871	0.36927	T	-0.0536841	0.43886	T	-0.31489	0.43132	T	0.00291439180401243	0.00030	T	0.782522	0.41827	T	0.11401484	0.26920	0.058207095	0.10716	0.11401484	0.26920	0.058207095	0.10716	-2.714	0.07421	T	0.21301624123496365	0.28594	0.155	0.34361	B	.;.	.;.	2.476867	0.31934	18.89	0.93460886301440382	0.23247	0.88481	0.48429	D	AEFBI	0.274499	0.38967	N	-0.471234561374049	0.23027	1.233672	-0.289425091573026	0.28446	1.586133	2.17144164743047E-4	0.05997	0.736574	0.97449	0	0.732669	0.95671	0	0.601832	0.32385	0	0.756605	0.99741	0	.	.	5.0	3.05	0.34272	0.914000	0.28246	0.910000	0.22619	0.549000	0.26987	0.989000	0.36753	0.340000	0.24418	0.997000	0.79791	0.0:0.6447:0.2767:0.0786	9.075	0.35674	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	0.351197	0.253086	0.383562	0.346491	0.125000	0.394737	0.307692	0.388000	0.07895	344.02	68	chr7	152235831	.	C	G	344.02	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.16;DP=1631;ExcessHet=0.3672;FS=3.14;InbreedingCoeff=-0.0875;MLEAC=3;MLEAF=0.079;MQ=50.5;MQRankSum=-2.006;QD=1.01;ReadPosRankSum=-1.193;SOR=1.089	GT:AD:DP:GQ:PL	0/1:79,19:98:99:309,0,3120	16	0	3	0
chr8	7976982	7976982	T	C	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.A1004G:p.Y335C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310040831	8.53e-06	7.152e-05	0	1.695e-05	8.637e-05	0	0	.	.	0	0	0	0	0	0	0	0	8.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	4.56	0.99153	H	.	.	.	.	.	.	0.736	0.73645	.	.	.	.	.	.	.	0.8889628	0.88233	D	.	.	.	.	.	.	.	0.162503812791	0.15892	0.07678056790258855	0.07614	.	.	0.478556454182	0.35858	T	0.242774	0.61158	T	0.301153	0.83063	D	0.194809	0.82843	D	.	.	.	0.960604	0.85218	D	0.1726931	0.37974	0.30678537	0.56702	0.1726931	0.37974	0.30678537	0.56701	-8.104	0.61778	D	.	.	0.187	0.40344	B	.	.	3.465188	0.48318	22.6	0.63485114938700782	0.07236	0.54950	0.29742	D	AEFI	.	.	.	.	.	.	.	.	.	1.64425267711369E-5	0.02871	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0841919	0.19216	.	.	.	4.779000	0.62068	0.928000	0.22757	0.453000	0.21368	1.000000	0.71638	0.278000	0.24090	0.023000	0.12082	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease, conserved site|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	80.29	.	chr8	7976982	.	T	C	80.29	.	AC=2;AF=0.125;AN=16;DP=179;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=39.27;QD=29.93;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:7976982_T_C:90,6,0:7976982	7	1	0	11
chr8	8377394	8377394	C	T	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.G1015A:p.D339N,PRAG1:NM_001369759:exon3:c.G1015A:p.D339N	.	399	1116	6	1	0	8	0.00357143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0125104443522	0.0059	0.00199681	0.0055	0.0018	0.0021	0.0001	0.0089	0.0074	0.0045	0.0036	0.0048447	749	154602	rs201521501	0.0078	0.0078	0.0080	0.0077	0.0089	0.0077	0.0077	0.0087	0.0087	0.0011	0.0022	0.0097	5.057e-05	0.0087	0.0021	0.0089	0.0071	0.0028	0.0050	0.0050	0.0050	0.0050	0.0075	0.0047	0.0046	0.0070	0.0068	0.0015	0	0.0018	0.0086	0.0002	0.0103	0	0.0075	0.0038	0.0023	.	.	.	0.706	0.05602	T	0.999	0.77913	D	0.954	0.69447	D	0.001437	0.39044	N	0.165039	0.879059	0.35713	D	.	.	.	.	.	.	.	.	.	0.496	0.52918	-0.5453	0.66963	T	0.227	0.59233	T	10	0.0080578625	0.00183	T	0.01251	0.31146	T	.	.	.	.	0.152612264143	0.14878	0.20885933061810766	0.20801	.	.	0.431771397591	0.29450	T	0.025059	0.18811	T	-0.555119	0.00272	T	-0.559135	0.16459	T	0.0221336370457887	0.00924	T	0.79802	0.44234	T	0.06739918	0.14591	0.07839511	0.17554	0.06739918	0.14591	0.07839511	0.17553	-5.935	0.45733	T	.	.	0.213	0.44148	B	.;.	.;.	3.122175	0.42153	21.5	0.99867904873152369	0.94547	0.41551	0.26682	N	AEFDBCI	0.078404	0.15817	N	-0.00191428558426515	0.41769	2.504362	-0.141461961682113	0.33739	1.933098	0.999999998656664	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.491896	0.07777	0	.	.	4.34	4.34	0.51267	1.059000	0.30127	4.713000	0.44466	0.598000	0.34611	0.306000	0.25378	0.999000	0.35428	0.004000	0.06068	0.0:1.0:0.0:0.0	15.177	0.72607	928	0.17405	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001521	0.000000	0.000000	0.002924	0.000000	0.000000	0.006250	0.003788	0.02632	2137.33	43	chr8	8377394	.	C	T	2137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=1080;ExcessHet=0;FS=5.37;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.19;ReadPosRankSum=-0.464;SOR=0.929	GT:AD:DP:GQ:PL	0/1:53,79:132:99:2151,0,1159	18	0	1	0
chr8	8377787	8377787	G	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.C622T:p.R208C,PRAG1:NM_001369759:exon3:c.C622T:p.R208C	.	419	1098	5	0	0	5	0.00227169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.00618618656676	0.0047	0.000998403	0.0035	0.0012	0.0010	0	0.0076	0.0050	0.0033	0.0005	0.0037063	573	154602	rs180898867	0.0054	0.0054	0.0056	0.0053	0.0061	0.0053	0.0053	0.0060	0.0059	0.0007	0.0015	0.0097	2.519e-05	0.0081	0.0009	0.0061	0.0052	0.0005	0.0039	0.0039	0.0037	0.0041	0.0055	0.0036	0.0035	0.0051	0.0049	0.0011	0	0.0014	0.0086	0.0002	0.0101	0	0.0055	0.0038	0.0004	.	.	.	0.029	0.54541	D	0.146	0.27821	B	0.024	0.20255	B	0.083870	0.20729	N	0.321541	0.980191	0.39641	D	.	.	.	.	.	.	.	.	.	0.343	0.39457	-0.9817	0.34608	T	0.077	0.30767	T	10	0.0064563453	0.00146	T	0.006186	0.16200	T	.	.	.	.	0.307332253619	0.30352	0.1319628656894759	0.13121	.	.	0.257686942816	0.04620	T	0.022785	0.17508	T	-0.167648	0.25590	T	-0.00662597	0.69905	D	0.016472565910182	0.00412	T	0.869413	0.57379	D	0.08104805	0.18604	0.060116924	0.11395	0.08104805	0.18603	0.060116924	0.11395	-5.508	0.41942	T	.	.	0.135	0.29394	B	.;.	.;.	4.243043	0.64342	24.7	0.99872106881281586	0.94989	0.73101	0.35762	D	AEFDBCI	0.241724	0.36329	N	-0.171502809079798	0.34324	1.957826	-0.0401645495545533	0.37920	2.226788	0.99961848429464	0.40981	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.2	3.25	0.36363	3.243000	0.51090	5.698000	0.49367	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.479000	0.28543	0.0968:0.0:0.5363:0.3669	5.315	0.15160	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	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.006098	0.003788	0.02632	3090.33	43	chr8	8377787	.	G	A	3090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=1052;ExcessHet=0;FS=3.21;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.37;ReadPosRankSum=-0.183;SOR=0.499	GT:AD:DP:GQ:PL	0/1:89,112:201:99:3104,0,2080	18	0	1	0
chr8	10611249	10611249	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G2849A:p.R950H	Occult macular dystrophy, Autosomal dominant	0	225	1	0	0	1	0.00221729	.	.	.	413767	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.387	0.715972163147	0.0002	.	0.0003	0.0001	0	0.0005	0	0.0002	0	0.0012	0.0002264	35	154602	rs201968725	0.0002	0.0002	0.0001	0.0002	0.0015	0.0002	0.0001	0.0013	0.0012	5.974e-05	2.236e-05	0	0.0001	0	0.0005	9.263e-05	0.0002	0.0015	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	0.0001	0	0	0	0.0004	0	0	0.0001	0.0005	0.0017	0.441	0.09236	T	0.167	0.30729	T	.	.	.	.	.	.	0.947360	0.07633	N	1.039280	1	0.08975	N	-0.22	0.03977	N	-1.02	0.76300	T	1.42	0.00815	N	0.646	0.65758	-0.8512	0.51885	T	0.266	0.63749	T	10	0.23439452	0.40478	T	0.715972	0.97696	D	0.387	0.70358	.	.	0.15556083564	0.15200	0.2538678084800543	0.25300	.	.	0.245718508959	0.03330	T	0.079735	0.36199	T	-0.28525	0.10119	T	-0.212597	0.53447	T	0.0168827265305444	0.00440	T	0.464054	0.13535	T	0.02187258	0.00815	0.029692015	0.01336	0.02187258	0.00814	0.029692015	0.01336	-4.108	0.25408	T	0.0911984329143445	0.05761	0.081	0.08368	B	.	.	0.204964	0.05893	2.333	0.29934526604811967	0.01612	0.00599	0.02675	N	AEFDBI	0.025219	0.01691	N	-1.05860557936357	0.07419	0.3446135	-1.0732974274852	0.08228	0.4036583	1.02379788800706E-4	0.05123	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.73	1.24	0.20416	0.025000	0.13469	-2.388000	0.03816	-0.195000	0.09104	0.025000	0.20085	0.000000	0.08366	0.002000	0.04165	0.0:0.4919:0.0:0.5081	6.973	0.23842	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	0	0	.	.	.	.	.	.	.	.	0.02632	1330.33	55	chr8	10611249	.	C	T	1330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.802;DP=933;ExcessHet=0;FS=2.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=1.69;SOR=0.62	GT:AD:DP:GQ:PL	0/1:44,54:98:99:1344,0,1122	18	0	1	0
chr8	10622865	10622865	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C337T:p.P113S	Occult macular dystrophy, Autosomal dominant	1	1498	23	0	0	23	0.00761842	.	.	.	303921	not_provided|Occult_macular_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.144	.	0.0002	0.00399361	0.0026	0.0001	0.0005	0	0	0.0004	0.0081	0.0157	0.0021863	338	154602	rs201245739	0.0012	0.0012	0.0007	0.0017	0.0163	0.0011	0.0011	0.0156	0.0153	5.977e-05	0.0001	0.0011	2.52e-05	0	0.0042	0.0002	0.0013	0.0163	0.0007	0.0007	0.0006	0.0008	0.0145	0.0006	0.0006	0.0118	0.0108	7.22e-05	0	0.0005	0.0014	0	0	0	0.0003	0.0019	0.0145	0.143	0.25355	T	0.228	0.25286	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	-2.17	0.86624	D	-2.1	0.47852	N	0.183	0.19861	-0.8200	0.53933	T	0.286	0.65744	T	9	0.00442034	0.00090	T	.	.	.	0.144	0.38394	.	.	0.254244900254	0.25046	0.18994679781171653	0.18912	.	.	0.310086578131	0.11920	T	0.136786	0.46936	T	-0.470472	0.00844	T	-0.435603	0.29302	T	0.0063750555654631	0.00071	T	0.624238	0.24084	T	0.03854926	0.05157	0.071921706	0.15456	0.03854926	0.05156	0.071921706	0.15456	-3.485	0.16223	T	0.14979248067906134	0.17545	0.091	0.12891	B	.	.	0.676226	0.10444	7.166	0.49772977628815207	0.04268	0.05439	0.11314	N	AEFDBI	0.081127	0.16412	N	-1.17843439872053	0.05326	0.2425605	-1.22491323184172	0.05512	0.262831	0.0171898468307943	0.12922	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.74	-3.47	0.04452	-0.236000	0.09019	1.009000	0.23318	0.674000	0.70861	0.000000	0.06391	0.097000	0.22620	0.104000	0.18471	0.4664:0.103:0.3164:0.1143	3.123	0.06012	778	0.48011	Doublecortin 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	0.005035	0.000000	0.002717	0.005848	0.000000	0.000000	0.006098	0.011364	0.02632	1219.33	40	chr8	10622865	.	G	A	1219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=749;ExcessHet=0;FS=8.182;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.625;SOR=1.328	GT:AD:DP:GQ:PL	0/1:52,44:96:99:1233,0,1410	18	0	1	0
chr8	12186528	12186528	G	C	exonic	FAM86B1	.	nonsynonymous SNV	FAM86B1:NM_001083537:exon5:c.C464G:p.P155R	.	453	1049	20	0	0	20	0.00944287	.	.	.	2343792	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.132	0.00444197983801	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279049664	0.0006	0.0012	0.0004	0.0007	0.0052	0.0005	0.0005	0.0048	0.0047	0.0001	0.0008	0.0009	0	0.0003	0.0037	0.0002	0.0005	0.0052	0.0007	0.0009	0.0006	0.0008	0.0054	0.0006	0.0006	0.0038	0.0033	0.0002	0	0.0007	0.0017	0	0.0002	0.0069	0.0007	0.0024	0.0054	0.035	0.43708	D	0.183	0.29153	T	0.027	0.31731	B	0.167	0.35540	B	.	.	.	.	1	0.81001	D	-1.59	0.00435	N	2.35	0.16217	T	-0.84	0.23156	N	0.208	0.24260	-0.8770	0.49997	T	0.012	0.04747	T	9	0.087920815	0.15091	T	0.004442	0.10875	T	0.132	0.35948	0.742	0.87401	0.043077524339	0.03247	0.5275503728603979	0.52679	1.89546967938	0.92762	.	.	.	0.001653	0.01084	T	-0.28737	0.09902	T	-0.650564	0.08915	T	0.041530152190818	0.03969	T	0.821218	0.48050	T	0.06668883	0.14374	0.055078726	0.09593	0.06668883	0.14373	0.055078726	0.09593	9.484	0.00000	T	.	.	0.083	0.09433	B	.;.	.;.	1.170399	0.15603	11.97	0.73488612586498137	0.10346	0.05576	0.11476	N	AEFI	0.038886	0.05569	N	-2.070749039906	0.00148	0.006353905	-2.07365716296805	0.00213	0.009366211	2.03422830820862E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.17	-2.34	0.06321	0.202000	0.17094	0.590000	0.19811	-0.769000	0.03460	0.987000	0.36337	0.986000	0.30841	0.006000	0.07323	0.0:0.3889:0.1868:0.4243	4.304	0.10381	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	.	.	.	.	.	.	.	.	0.02632	906.33	35	chr8	12186528	.	G	C	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=1056;ExcessHet=0;FS=3.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.03;MQRankSum=-2.582;QD=6.34;ReadPosRankSum=0.193;SOR=1.073	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,30:143:99:0|1:12186528_G_C:920,0,4655:12186528	18	0	1	0
chr8	12186529	12186529	G	A	exonic	FAM86B1	.	nonsynonymous SNV	FAM86B1:NM_001083537:exon5:c.C463T:p.P155S	.	452	1050	20	0	0	20	0.00943396	.	.	.	2343791	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00290629980765	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1316189728	0.0005	0.0012	0.0004	0.0007	0.0051	0.0005	0.0005	0.0047	0.0045	0.0001	0.0008	0.0009	0	0.0003	0.0032	0.0002	0.0005	0.0051	0.0007	0.0010	0.0006	0.0008	0.0054	0.0006	0.0006	0.0038	0.0033	0.0002	0	0.0007	0.0017	0	0.0002	0.0069	0.0007	0.0024	0.0054	0.103	0.30097	T	0.357	0.17115	T	0.002	0.23866	B	0.04	0.25116	B	.	.	.	.	1	0.81001	D	-0.895	0.01383	N	2.33	0.16492	T	0.34	0.03889	N	0.208	0.23253	-0.9570	0.39735	T	0.016	0.06569	T	9	0.03251031	0.01404	T	0.002906	0.06133	T	0.059	0.16972	.	.	0.043077524339	0.03247	0.42598081369902846	0.42515	1.79259073175	0.91533	.	.	.	7.73E-4	0.00369	T	-0.273844	0.11331	T	-0.631134	0.10328	T	0.0170963427727431	0.00455	T	0.853215	0.53849	D	0.035074204	0.04059	0.054233648	0.09290	0.035074204	0.04059	0.054233648	0.09290	7.185	0.00000	T	.	.	0.083	0.09239	B	.;.	.;.	1.559377	0.19974	14.53	0.629204580295738	0.07087	0.04338	0.09900	N	AEFI	0.036339	0.04825	N	-1.68399236448125	0.00900	0.03895298	-1.6529986259137	0.01360	0.0614345	1.432567853437E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.17	-0.134	0.12823	1.896000	0.39421	5.121000	0.47587	-0.595000	0.04637	0.999000	0.42656	1.000000	0.68203	0.005000	0.06747	0.8207:0.0:0.1793:0.0	6.432	0.21004	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	.	.	.	.	.	.	.	.	0.02632	906.33	35	chr8	12186529	.	G	A	906.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.697;DP=1053;ExcessHet=0;FS=3.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.86;MQRankSum=-2.582;QD=6.34;ReadPosRankSum=0.045;SOR=1.073	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,30:143:99:0|1:12186528_G_C:920,0,4655:12186528	18	0	1	0
chr8	22116337	22116337	G	C	exonic	HR	.	nonsynonymous SNV	HR:NM_018411:exon17:c.C3305G:p.P1102R,HR:NM_005144:exon18:c.C3470G:p.P1157R	Alopecia universalis, Autosomal recessive;Atrichia with papular lesions, Autosomal recessive;Hypotrichosis 4, Autosomal dominant	1	1510	11	0	0	11	0.00362917	.	.	.	313744	not_provided|Atrichia_with_papular_lesions|Intellectual_disability,_autosomal_dominant_14|Alopecia_universalis_congenita	MedGen:C3661900|MONDO:MONDO:0008847,MedGen:C1859592,OMIM:209500,Orphanet:86819|MONDO:MONDO:0013819,MedGen:C3553247,OMIM:614607,Orphanet:1465|MONDO:MONDO:0008757,MedGen:C1859877,OMIM:203655,Orphanet:701	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.319	.	.	0.0153754	0.0098	9.879e-05	0.0004	0	0	7.685e-05	0.0035	0.0699	0.0082535	1276	154602	rs201030061	0.0043	0.0043	0.0024	0.0062	0.0686	0.0042	0.0042	0.0672	0.0666	0.0002	0.0003	3.827e-05	0	0	0.0029	3.148e-05	0.0049	0.0686	0.0023	0.0023	0.0011	0.0036	0.0697	0.0021	0.0020	0.0636	0.0612	0.0001	0	0.0006	0	0	0	0	2.94e-05	0.0005	0.0697	1.0	0.41364	T	0.005	0.72224	D	0.177	0.35913	B	0.1	0.42698	B	0.174642	0.17273	N	0.527198	0.978909	0.25218	N	1.1	0.28011	L	-0.71	0.72889	T	4.15	0.01107	N	0.411	0.45142	-0.8574	0.51448	T	0.245	0.61377	T	10	0.0031084716	0.00052	T	.	.	.	0.319	0.64112	.	.	0.824869605419	0.82321	0.6212478303390927	0.62057	0.272563569154	0.29765	0.28440362215	0.08114	T	0.029246	0.20999	T	-0.24446	0.14785	T	-0.0720776	0.65477	T	0.0523141331578638	0.05901	T	0.786121	0.42437	T	0.084809214	0.19645	0.14101413	0.33596	0.09896246	0.23350	0.13241446	0.31775	-1.755	0.26751	T	.	.	0.09	0.12607	B	.;.	.;.	2.570559	0.33311	19.30	0.30040423048899362	0.01623	0.91891	0.54487	D	AEFDBCI	0.488425	0.52675	N	-0.153918081363532	0.35069	2.009625	-0.0178405263278537	0.38910	2.299192	0.999999993533635	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.1	5.1	0.68917	3.213000	0.50855	3.785000	0.39806	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.841000	0.39698	0.0:0.0:1.0:0.0	14.047	0.64231	602	0.67834	JmjC domain|JmjC 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	0.005550	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.026515	0.02632	1664.33	34	chr8	22116337	.	G	C	1664.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.699;DP=770;ExcessHet=0;FS=3.351;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=2.13;SOR=0.709	GT:AD:DP:GQ:PL	0/1:53,67:120:99:1678,0,1381	18	0	1	0
chr8	22281502	22281502	G	A	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon4:c.G412A:p.V138I,PIWIL2:NM_001330480:exon4:c.G412A:p.V138I,PIWIL2:NM_018068:exon4:c.G412A:p.V138I	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	0.00219649	0.0013	0	0	0	0	0	0.0033	0.0099	0.0011578	179	154602	rs544698493	0.0006	0.0006	0.0003	0.0009	0.0103	0.0006	0.0006	0.0097	0.0095	0	3.037e-05	0	2.565e-05	0	0.0002	1.087e-05	0.0005	0.0103	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	0	0	0.0001	0	0	0	0	4.412e-05	0	0.0116	0.602	0.05601	T	0.769	0.05018	T	0.001	0.07471	B	0.001	0.04355	B	0.529317	0.11656	N	0.757107	0.999974	0.18612	N	0.55	0.14455	N	3.68	0.04151	T	-0.01	0.07155	N	0.173	0.22998	-0.9269	0.44588	T	0.007	0.02321	T	10	0.004895836	0.00104	T	.	.	.	0.067	0.19503	0.245	0.17984	0.21279746466	0.20884	0.14544534189663996	0.14467	0.0556849363162	0.06156	0.286973148584	0.08484	T	0.029606	0.21175	T	-0.746954	0.00019	T	-0.838048	0.01128	T	0.0131848413034316	0.00233	T	0.657134	0.26688	T	0.024846176	0.01357	0.023149146	0.00330	0.024846176	0.01357	0.023149146	0.00330	-4.332	0.28623	T	.	.	0.070	0.05800	B	.;.;.;.	.;.;.;.	0.923567	0.12983	9.491	0.71654255260329325	0.09703	0.02288	0.06590	N	AEFBI	0.057509	0.10717	N	-0.831040293555224	0.12521	0.6108683	-0.749022203022093	0.15747	0.8296911	0.0188757765572567	0.13105	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.55	-1.04	0.09555	-0.387000	0.07419	-2.067000	0.04263	0.671000	0.69459	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.3374:0.1583:0.2723:0.232	0.333	0.00300	575	0.70088	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.000000	0.007576	0.02632	1121.33	35	chr8	22281502	.	G	A	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.059;DP=748;ExcessHet=0;FS=1.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.233;SOR=1.045	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1135,0,1165	18	0	1	0
chr8	27458492	27458492	C	A	exonic	PTK2B	.	nonsynonymous SNV	PTK2B:NM_173175:exon30:c.C2887A:p.H963N,PTK2B:NM_173176:exon31:c.C3013A:p.H1005N,PTK2B:NM_004103:exon32:c.C3013A:p.H1005N,PTK2B:NM_173174:exon36:c.C3013A:p.H1005N	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00435777702153	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1235987486	5.613e-06	6.84e-06	5.56e-06	5.667e-06	0.0002	2.42e-06	1.75e-06	8.6e-07	5.8e-07	0	0	0	2.641e-05	0	0.0002	3.656e-06	3.39e-05	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	0.228	0.18434	T	0.353	0.17320	T	0.125	0.26866	B	0.068	0.27651	B	0.004082	0.34125	N	0.334193	0.922585	0.30093	N	0	0.06538	N	1.59	0.28836	T	-0.7	0.19933	N	0.162	0.20660	-1.0728	0.08808	T	0.039	0.16892	T	10	0.0989221	0.17919	T	0.004358	0.10624	T	0.043	0.11576	0.436	0.48828	0.394539259793	0.39067	0.08090050336711432	0.08025	0.344482459952	0.36376	0.288820326328	0.08750	T	0.160388	0.50421	T	-0.234274	0.16086	T	-0.574295	0.15058	T	0.366764065815002	0.27672	T	0.863414	0.55914	D	0.30378056	0.53241	0.124842934	0.30087	0.30378056	0.53241	0.124842934	0.30087	-4.568	0.33319	T	.	.	0.092	0.13503	B	.;.;.;.	.;.;.;.	3.563246	0.50150	22.9	0.94771654502628633	0.25491	0.69678	0.34283	D	AEFDBHCI	0.375169	0.45980	N	-0.133200563278972	0.35952	2.071694	0.0754067322312723	0.43316	2.635854	0.999994260270725	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.653264	0.51672	0	0.616125	0.45549	0	.	.	4.77	4.77	0.60425	4.364000	0.59253	5.895000	0.50812	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.992000	0.67800	0.1951:0.8048:0.0:0.0	10.390	0.43350	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	.	.	.	.	.	.	.	.	0.02632	854.33	38	chr8	27458492	.	C	A	854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.83;DP=752;ExcessHet=0;FS=1.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=0.098;SOR=0.553	GT:AD:DP:GQ:PL	0/1:24,36:60:99:868,0,657	18	0	1	0
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,26:78:99:0|1:28780872_G_C:206,0,1146:28780872	7	0	11	1
chr8	38428395	38428395	-	TCA	exonic	FGFR1	.	nonframeshift insertion	FGFR1:NM_001174066:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354368:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001354370:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023105:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_023106:exon3:c.131_132insTGA:p.D44_S45insD,FGFR1:NM_001174063:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174065:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354367:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001354369:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_015850:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_023110:exon4:c.398_399insTGA:p.D133_S134insD,FGFR1:NM_001174064:exon5:c.374_375insTGA:p.D125_S126insD,FGFR1:NM_001174067:exon5:c.497_498insTGA:p.D166_S167insD	Encephalocraniocutaneous lipomatosis, Somatic mosaicism;Hartsfield syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 2 with or without anosmia, Autosomal dominant;Jackson-Weiss syndrome, Autosomal dominant;Osteoglophonic dysplasia, Autosomal dominant;Pfeiffer syndrome, Autosomal dominant;Trigonocephaly 1, Autosomal dominant	0	224	1	1	0	3	0.00665188	.	.	.	438386	Hypogonadotropic_hypogonadism_2_with_or_without_anosmia|Pfeiffer_syndrome|Mendelian_syndromes_with_cleft_lip/palate|not_provided	MONDO:MONDO:0007844,MedGen:C1563720,OMIM:147950,Orphanet:478|MONDO:MONDO:0007043,MedGen:C0220658,OMIM:101600,Orphanet:710|MedGen:C5680616,Orphanet:139039|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0003	0	0.0005	0.0001153	3	26028	rs776622310	0.0001	0.0002	0.0001	0.0002	0.0003	0.0001	0.0001	0.0003	0.0002	8.964e-05	0.0002	0	2.52e-05	7.489e-05	0.0002	0.0001	0.0001	0.0003	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0002	0.0002	9.623e-05	0	0.0001	0	0	0	0	0.0003	0.0009	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	960.29	38	chr8	38428395	.	G	GTCA	960.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.484;DP=714;ExcessHet=0;FS=4.055;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=-0.631;SOR=0.409	GT:AD:DP:GQ:PL	0/1:25,25:50:99:974,0,930	18	0	1	0
chr8	39746506	39746506	T	C	exonic	ADAM2	.	nonsynonymous SNV	ADAM2:NM_001278113:exon18:c.A2083G:p.K695E,ADAM2:NM_001278114:exon18:c.A1951G:p.K651E,ADAM2:NM_001464:exon19:c.A2140G:p.K714E	.	4	220	2	0	0	2	0.00452489	.	.	.	2425363	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.075	0.00217131088309	.	.	9.091e-05	0	0	0	0	0.0001	0	0.0002	7.76e-05	12	154602	rs201499441	0.0001	0.0001	9.778e-05	0.0001	0.0002	9.091e-05	8.568e-05	0.0002	0.0001	0	0	0.0012	0	0	0	8.229e-05	0.0002	0.0002	9.2e-05	9.193e-05	8.994e-05	9.416e-05	0.0004	5.528e-05	4.365e-05	7.285e-05	3.027e-05	4.825e-05	0	0	0.0012	0	0	0.0032	7.351e-05	0	0.0004	0.011	0.57480	D	0.024	0.64786	D	1.0	0.90584	D	0.98	0.74843	D	.	.	.	.	1	0.08975	N	1.625	0.41611	L	4.94	0.02513	T	-2.45	0.55025	N	0.287	0.33030	-1.0460	0.15534	T	0.022	0.09421	T	9	0.08398822	0.14029	T	0.002171	0.04071	T	0.075	0.21907	.	.	0.317667799068	0.31381	0.30719901758541823	0.30632	0.0318931343396	0.03313	0.527877569199	0.42735	T	0.09892	0.40322	T	-0.38784	0.02778	T	-0.498689	0.22484	T	0.129320621490479	0.15319	T	0.587141	0.21771	T	0.28172767	0.51214	0.23589554	0.48847	0.28172767	0.51214	0.23589554	0.48846	-5.121	0.39114	T	.	.	0.221	0.55306	B	.;.;.;.;.	.;.;.;.;.	2.993217	0.39968	21.1	0.98904554633869857	0.48254	0.11341	0.16569	N	AEI	0.040575	0.06054	N	-0.0653870921031335	0.38918	2.286853	-0.231743352121189	0.30406	1.711693	1.49873276664233E-4	0.05573	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.85	3.85	0.43556	1.582000	0.36177	5.596000	0.49011	0.609000	0.47794	0.495000	0.26917	1.000000	0.68203	0.094000	0.17991	0.0:0.0:0.0:1.0	9.304	0.37024	850	0.35610	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1073.33	34	chr8	39746506	.	T	C	1073.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.38;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=2.18;SOR=0.723	GT:AD:DP:GQ:PL	0/1:29,43:72:99:1087,0,598	18	0	1	0
chr8	42308900	42308900	G	A	splicing	IKBKB	NM_001556:exon8:c.568-1G>A;NM_001242778:exon7:c.391-1G>A;NM_001190720:exon7:c.376-1G>A	.	.	Immunodeficiency 15, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	6.887379	0.95870	35	0.99147853207447401	0.53737	0.98619	0.84773	D	AEFDBI	.	.	.	1.04757159915052	0.97032	15.48912	0.859779741827455	0.93576	12.13387	0.999999998424202	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.231597	0.04857	0	0.117559	0.03655	0	0.867	0.53453	4.92	4.04	0.46262	9.931000	0.98823	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:0.1395:0.8605:0.0	15.464	0.75116	620	0.66037	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1875.33	34	chr8	42308900	.	G	A	1875.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.933;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=1.18;SOR=0.721	GT:AD:DP:GQ:PL	0/1:66,77:143:99:1889,0,1728	18	0	1	0
chr8	60742126	60742126	C	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.C694A:p.P232T,CHD7:NM_017780:exon2:c.C694A:p.P232T	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1520	2	0	0	2	0.000657462	.	.	YES	207550	CHD7-related_disorder|not_provided|not_specified|Inborn_genetic_diseases|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|CHARGE_syndrome	.|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	.	.	0.00259585	0.0016	0	8.643e-05	0	0	1.501e-05	0.0011	0.0116	0.0013842	214	154602	rs554647169	0.0008	0.0008	0.0004	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	5.974e-05	0	0	2.519e-05	0	0.0007	2.338e-05	0.0012	0.0116	0.0004	0.0004	0.0002	0.0006	0.0122	0.0003	0.0003	0.0097	0.0088	0	0	6.534e-05	0	0	0	0	1.47e-05	0.0005	0.0122	0.004	0.68238	D	0.309	0.92824	T	0.003	0.11197	B	0.004	0.10090	B	0.023819	0.26374	N	0.186268	0.992202	0.41789	D	0.695	0.17993	N	-1.56	0.81815	D	-1.0	0.35399	N	0.41	0.45047	-0.5779	0.65700	T	0.370	0.72970	T	10	0.008243531	0.00187	T	.	.	.	0.034	0.08419	0.264	0.20946	0.730123910085	0.72772	0.43617296287083984	0.43534	0.356084355675	0.37361	0.480574369431	0.36136	T	0.151964	0.49214	T	-0.312647	0.07517	T	-0.211484	0.53552	T	0.0189143794061425	0.00601	T	0.851815	0.56549	D	0.17363887	0.38123	0.09913729	0.23660	0.20563963	0.42712	0.103230685	0.24762	-5.248	0.39425	T	.	.	0.086	0.18869	B	.;.;.	.;.;.	3.178126	0.43127	21.7	0.99662376096281902	0.78011	0.89695	0.50325	D	AEFDGBCI	0.332680	0.43201	N	-0.297284841938691	0.29253	1.620611	-0.139673600678523	0.33807	1.93785	0.999996514139666	0.74766	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	4.63	3.74	0.42108	2.541000	0.45394	2.602000	0.33527	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.1515:0.8485:0.0:0.0	14.108	0.64636	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2415.33	39	chr8	60742126	.	C	A	2415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.155;DP=832;ExcessHet=0;FS=3.541;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.21;ReadPosRankSum=1.33;SOR=0.484	GT:AD:DP:GQ:PL	0/1:77,93:170:99:2429,0,1923	18	0	1	0
chr8	66429796	66429796	T	C	exonic	RRS1	.	nonsynonymous SNV	RRS1:NM_015169:exon1:c.T665C:p.M222T	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.0730083769618	0.0037	0.00119808	0.0033	0.0017	0.0016	0	0.0006	0.0053	0.0024	0.0009	0.0034152	528	154602	rs137894990	0.0056	0.0056	0.0058	0.0054	0.0068	0.0055	0.0054	0.0066	0.0066	0.0015	0.0021	0.0018	0	0.0004	0.0043	0.0068	0.0048	0.0010	0.0038	0.0038	0.0040	0.0037	0.0070	0.0036	0.0035	0.0064	0.0062	0.0013	0	0.0024	0	0.0004	0.0002	0.0170	0.0070	0.0033	0.0004	0.102	0.30235	T	0.17	0.30436	T	0.329	0.33227	B	0.191	0.36391	B	0.000031	0.55875	D	0.188274	0.97169	0.38890	D	1.485	0.37223	L	-2.01	0.85468	D	-1.91	0.44471	N	0.224	0.25130	-0.4221	0.71323	T	0.357	0.71951	T	10	0.005376667	0.00118	T	0.073008	0.71680	D	0.411	0.72252	.	.	0.461122776993	0.45736	0.417064413159898	0.41622	0.58792294818	0.54349	0.518063664436	0.41353	T	0.059203	0.31052	T	-0.264195	0.12413	T	-0.147849	0.59433	T	0.0546780064878362	0.06304	T	0.530647	0.17608	T	0.42394164	0.62353	0.5103681	0.71705	0.42394164	0.62353	0.5103681	0.71706	-5.192	0.38860	T	.	.	0.269	0.50334	B	.	.	2.918359	0.38732	20.8	0.93474272518289059	0.23268	0.73909	0.36151	D	ALL	0.255534	0.37463	N	-0.0231176831186772	0.40811	2.430039	0.0775222255079102	0.43421	2.644166	0.999999999999858	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.75	3.24	0.36257	2.562000	0.45576	3.238000	0.36948	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1476:0.0815:0.0:0.7709	5.895	0.18177	773	0.48803	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.005435	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1624.33	33	chr8	66429796	.	T	C	1624.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.839;DP=842;ExcessHet=0;FS=6.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.32;SOR=0.701	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1638,0,1589	18	0	1	0
chr8	66430095	66430127	AAGAGGAAAGGGGGCCCGCCCAGCCAGGGAGGG	-	exonic	RRS1	.	nonframeshift deletion	RRS1:NM_015169:exon1:c.964_996del:p.P327_G337del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0	0	0.0009	3.84e-05	1	26028	rs769712999	2.533e-05	2.531e-05	1.635e-05	3.44e-05	0.0003	1.869e-05	1.632e-05	0.0002	0.0002	0	0	0	5.039e-05	0	0	8.996e-07	8.289e-05	0.0003	1.32e-05	1.314e-05	0	2.702e-05	0.0004	2.19e-06	8.2e-07	7.378e-05	3.061e-05	0	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	870.29	30	chr8	66430094	.	CAAGAGGAAAGGGGGCCCGCCCAGCCAGGGAGGG	C	870.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.63;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.87;ReadPosRankSum=-0.183;SOR=0.917	GT:AD:DP:GQ:PL	0/1:13,22:35:99:884,0,475	18	0	1	0
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-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	.	.	.	.	.	.	.	.	0.1786	165.75	17	chr8	67299229	.	C	T	165.75	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-0.465;DP=388;ExcessHet=1.3;FS=182.949;InbreedingCoeff=-0.2845;MLEAC=6;MLEAF=0.214;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.447;SOR=8.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,7:19:15:.:.:15,0,169:.	9	0	5	5
chr8	68105309	68105309	C	T	exonic	PREX2	.	nonsynonymous SNV	PREX2:NM_025170:exon24:c.C2887T:p.P963S	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	.	.	0.000199681	0.0004	0	0.0004	0	0	0.0005	0.0011	0.0004	0.0003622	56	154602	rs199951468	0.0003	0.0002	0.0002	0.0003	0.0013	0.0002	0.0002	0.0006	0.0004	7.605e-05	0.0002	0.0062	0	0	0.0013	0.0001	0.0006	0.0004	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	1.973e-05	1.125e-05	2.407e-05	0	6.542e-05	0.0049	0	0	0.0034	5.882e-05	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.002014	0.000000	0.004076	0.000000	0.100000	0.000000	0.000000	0.000000	0.02632	970.33	45	chr8	68105309	.	C	T	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.215;DP=715;ExcessHet=0;FS=4.872;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.088;SOR=1.323	GT:AD:DP:GQ:PL	0/1:36,37:73:99:984,0,1071	18	0	1	0
chr8	76854030	76854030	C	T	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon10:c.C7109T:p.T2370M	.	0	1516	4	2	0	8	0.00263158	.	.	.	3185176	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.044	0.00975772827316	0.0003	0.000399361	0.0006	0	0.0004	0.0001	0.0002	0.0006	0	0.0015	0.0005627	87	154602	rs200621033	0.0006	0.0006	0.0006	0.0007	0.0020	0.0006	0.0006	0.0018	0.0017	5.974e-05	0.0002	0.0002	0	0.0002	0.0003	0.0006	0.0006	0.0020	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0005	0.0004	2.407e-05	0	0.0003	0.0003	0.0002	9.413e-05	0	0.0006	0	0.0012	0.16	0.23721	T	0.147	0.32783	T	.	.	.	.	.	.	0.070363	0.21544	U	0.325051	1	0.08975	N	.	.	.	0.72	0.50976	T	-0.69	0.19720	N	0.057	0.02861	-1.0655	0.10432	T	0.062	0.25887	T	10	0.0069944263	0.00159	T	0.009758	0.25472	T	0.044	0.11924	.	.	0.0675242888579	0.06100	0.12351123756348206	0.12277	0.196977455865	0.22071	0.294634819031	0.09603	T	.	.	.	-0.546226	0.00307	T	-0.570623	0.15393	T	0.0128762952533175	0.00220	T	0.583442	0.21827	T	.	.	.	.	.	.	.	.	-5.372	0.40650	T	.	.	.	.	.	.;.	.;.	1.737773	0.22111	15.49	0.99012245302007285	0.50399	0.17929	0.20047	N	AEFBCI	0.115291	0.22675	N	-0.450638408617447	0.23718	1.275654	-0.42095670173751	0.24383	1.334898	0.999147018911726	0.38563	0.638212	0.43195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.02	4.13	0.47661	0.879000	0.27783	1.469000	0.26739	-0.190000	0.09434	0.000000	0.06391	0.001000	0.17328	0.831000	0.39176	0.1463:0.7767:0.0:0.077	9.863	0.40291	797	0.45241	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	3376.33	43	chr8	76854030	.	C	T	3376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2;DP=1189;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.128;SOR=0.669	GT:AD:DP:GQ:PL	0/1:141,129:270:99:3390,0,3573	18	0	1	0
chr8	93733500	93733500	C	T	exonic	RBM12B	.	nonsynonymous SNV	RBM12B:NM_001377964:exon2:c.G2911A:p.V971I,RBM12B:NM_001377962:exon3:c.G2911A:p.V971I,RBM12B:NM_001377963:exon3:c.G2911A:p.V971I,RBM12B:NM_203390:exon3:c.G2911A:p.V971I,RBM12B:NM_001377960:exon4:c.G2911A:p.V971I,RBM12B:NM_001377961:exon5:c.G2911A:p.V971I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00563000214119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	1.368e-06	1.364e-06	0	9.017e-07	0	0	.	.	0	0	0	0	0	0	9.017e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.088	0.40586	T	0.817	0.45613	P	0.555	0.49371	P	0.850649	0.08965	N	0.920710	0.99948	0.23169	N	1.72	0.44442	L	2.64	0.12780	T	-0.53	0.18042	N	0.26	0.29429	-1.0523	0.13763	T	0.063	0.26136	T	10	0.22007859	0.38695	T	0.00563	0.14560	T	0.132	0.35948	0.507	0.60232	0.19670166235	0.19296	0.3884899160085329	0.38763	.	.	0.481953263283	0.36325	T	0.013754	0.11837	T	-0.12992	0.31509	T	-0.424397	0.30571	T	0.593131244182587	0.36129	D	0.717028	0.32946	T	0.08600188	0.19972	0.07069653	0.15051	0.08600188	0.19972	0.07069653	0.15051	-5.211	0.39054	T	.	.	0.108	0.20274	B	.;.;.	.;.;.	3.169309	0.42975	21.6	0.99725230674240084	0.82336	0.86360	0.45625	D	AEFBCI	0.394934	0.47199	N	0.430494368214236	0.63106	4.538128	0.473211183218136	0.66220	4.923859	0.999999975763147	0.74766	0.722319	0.85440	0	0.666794	0.63253	0	0.698795	0.65105	0	0.669	0.65921	0	.	.	5.55	5.55	0.83298	1.694000	0.37371	4.003000	0.41092	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.921:0.0:0.079	12.065	0.52879	478	0.77585	RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2369.33	34	chr8	93733500	.	C	T	2369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.696;DP=869;ExcessHet=0;FS=1.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=2.48;SOR=0.786	GT:AD:DP:GQ:PL	0/1:119,99:218:99:2383,0,3079	18	0	1	0
chr8	100529590	100529590	G	C	exonic	ANKRD46	.	nonsynonymous SNV	ANKRD46:NM_001270377:exon3:c.C244G:p.L82V,ANKRD46:NM_001270378:exon3:c.C244G:p.L82V,ANKRD46:NM_001270379:exon3:c.C244G:p.L82V,ANKRD46:NM_198401:exon4:c.C244G:p.L82V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.596	0.150005866971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0015	0.0001	0.0001	0.0002	9.864e-05	9.277e-05	0.0001	0.0001	0.0002	2.237e-05	7.67e-05	2.521e-05	0	0	0.0001	0.0001	4.648e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.007	0.70582	D	0.979	0.59044	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	-0.42	0.81559	T	-2.73	0.59226	D	0.725	0.78737	0.478	0.90229	D	0.674	0.88703	D	10	0.8767001	0.87427	D	0.150006	0.83175	D	0.596	0.83965	0.755	0.88484	0.890307275418	0.88922	0.8234338829086948	0.82300	1.55775025529	0.88002	0.872135579586	0.92873	D	0.101322	0.44326	T	0.308324	0.83617	D	0.205109	0.83403	D	0.974698483943939	0.70616	D	0.974603	0.93166	D	0.66677815	0.76261	0.63095033	0.78471	0.66677815	0.76262	0.63095033	0.78472	-7.09	0.54688	T	.	.	0.739	0.74650	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.979340	0.58488	24.0	0.99868500657537906	0.94637	0.91448	0.53554	D	AEFDGBCIJ	0.756888	0.69601	D	0.711921816677299	0.80415	7.288927	0.679696694225148	0.80838	7.389038	0.999999999994741	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	4.9	0.63643	6.387000	0.73118	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0697:0.0:0.9303:0.0	14.563	0.67745	254	0.90023	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	30.14	36	chr8	100529590	.	G	C	30.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-4.105;DP=1254;ExcessHet=0;FS=265.384;InbreedingCoeff=-0.0577;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.83;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:84,33:117:43:.:.:43,0,1892:.	16	0	1	2
chr8	109498735	109498735	A	C	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon67:c.A10792C:p.S3598R	.	425	1061	33	3	0	39	0.0180472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	.	0.0042	0.00559105	0.0070	0.0005	0.0021	0.0001	0.0018	0.0059	0.0068	0.0247	0.0062742	970	154602	rs191412861	0.0058	0.0058	0.0052	0.0064	0.0235	0.0057	0.0057	0.0226	0.0223	0.0005	0.0028	0.0039	0.0001	0.0024	0.0144	0.0051	0.0064	0.0235	0.0037	0.0037	0.0034	0.0040	0.0236	0.0034	0.0033	0.0201	0.0188	0.0007	0	0.0038	0.0052	0.0002	0.0016	0.0068	0.0047	0.0043	0.0236	0.01	0.56456	D	0.007	0.92824	D	0.132	0.27209	B	0.04	0.23831	B	0.000010	0.62929	D	0.109105	0.981744	0.39811	D	2.455	0.71248	M	-2.18	0.86722	D	-2.92	0.65283	D	0.567	0.59053	0.044	0.83118	D	0.532	0.82626	D	10	0.010157198	0.00227	T	.	.	.	0.487	0.77528	0.615	0.74884	0.224531998449	0.22054	0.8064438829106227	0.80599	0.118355661369	0.13327	0.660828232765	0.61528	T	0.059709	0.31189	T	-0.13503	0.30684	T	0.0508483	0.73639	D	0.0302989552501162	0.02036	T	0.860114	0.55285	D	0.47670943	0.65700	0.51001537	0.71684	0.47670943	0.65701	0.51001537	0.71685	-4.57	0.31792	T	.	.	0.903	0.82959	P	.;.	.;.	3.597414	0.50793	23.0	0.99841498802935769	0.92229	0.98715	0.85931	D	AEFI	0.914970	0.87910	D	0.302415803449552	0.56273	3.791698	0.444078399766694	0.64335	4.686607	0.999978134083224	0.50053	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	6.02	6.02	0.97559	7.665000	0.82824	11.055000	0.85354	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	14.501	0.67307	604	0.67577	.;.	.	.	.	.	.	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	0.013105	0.010101	0.005435	0.002924	0.000000	0.008621	0.021472	0.037879	0.02632	1757.33	36	chr8	109498735	.	A	C	1757.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.492;DP=811;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.21;SOR=0.645	GT:AD:DP:GQ:PL	0/1:56,74:130:99:1771,0,1467	18	0	1	0
chr8	119855754	119855754	G	C	exonic	DSCC1	.	nonsynonymous SNV	DSCC1:NM_024094:exon1:c.C42G:p.I14M	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0058	0.00638978	0.0050	0.0436	0.0061	0	0	0.0010	0.0088	0.0002	0.001727	267	154602	rs116553136	0.0009	0.0009	0.0010	0.0008	0.0171	0.0008	0.0008	0.0159	0.0155	0.0171	0.0039	0.0002	0	0	0.0046	0.0004	0.0020	0.0001	0.0064	0.0064	0.0062	0.0066	0.0203	0.0061	0.0059	0.0191	0.0187	0.0203	0	0.0049	0.0003	0	0	0.0170	0.0005	0.0066	0.0002	0.181	0.21884	T	0.03	0.54159	D	0.468	0.36503	P	0.219	0.37734	B	0.000156	0.49130	D	0.208186	0.949665	0.37662	D	1.935	0.51832	L	0.91	0.44856	T	0.04	0.06488	N	0.288	0.32591	-1.0669	0.10108	T	0.039	0.16849	T	10	0.008121848	0.00184	T	.	.	.	0.059	0.16972	.	.	0.451118754121	0.44735	0.3359671492523719	0.33509	0.447166410229	0.44580	0.717494666576	0.69681	T	0.046847	0.27548	T	-0.617537	0.00114	T	-0.64224	0.09506	T	0.0589767038000409	0.07005	T	0.837516	0.51030	T	0.068569176	0.14949	0.08862711	0.20676	0.068569176	0.14949	0.08862711	0.20676	-5.262	0.39566	T	.	.	0.105	0.19154	B	.	.	2.215300	0.28262	17.74	0.9737206903105452	0.33627	0.67114	0.33316	D	ALL	0.244510	0.36561	N	-0.0444415141594852	0.39850	2.35688	0.0293232411837258	0.41083	2.462308	0.999999999998597	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.82	2.89	0.32713	1.290000	0.32925	0.140000	0.15159	-0.153000	0.12021	1.000000	0.71638	0.697000	0.26210	0.688000	0.33778	0.1573:0.1357:0.5673:0.1396	3.282	0.06511	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010163	0.037634	0.013587	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	445.33	34	chr8	119855754	.	G	C	445.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.085;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=-0.28;SOR=0.693	GT:AD:DP:GQ:PL	0/1:31,20:51:99:459,0,822	18	0	1	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N,EFR3A:NM_001323554:exon23:c.G2334C:p.K778N,EFR3A:NM_001323555:exon23:c.G2334C:p.K778N,EFR3A:NM_001323556:exon23:c.G2334C:p.K778N,EFR3A:NM_001323557:exon23:c.G2334C:p.K778N,EFR3A:NM_015137:exon23:c.G2442C:p.K814N,EFR3A:NM_001323558:exon24:c.G2493C:p.K831N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.375	899.74	179	chr8	132010871	.	G	C	899.74	.	AC=12;AF=0.375;AN=32;BaseQRankSum=-2.931;DP=2730;ExcessHet=11.1788;FS=198.961;InbreedingCoeff=-0.5515;MLEAC=13;MLEAF=0.406;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=1.12;SOR=12.747	GT:AD:DP:GQ:PL	0/1:97,32:136:42:42,0,1519	4	0	12	3
chr8	132615045	132615045	C	G	exonic	LRRC6	.	nonsynonymous SNV	LRRC6:NM_001321962:exon6:c.G721C:p.V241L,LRRC6:NM_001321963:exon8:c.G607C:p.V203L,LRRC6:NM_001321964:exon8:c.G607C:p.V203L,LRRC6:NM_012472:exon8:c.G967C:p.V323L,LRRC6:NM_001321965:exon9:c.G607C:p.V203L	Ciliary dyskinesia, primary, 19, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0257348950621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.35537	T	0.182	0.33442	T	0.741	0.42992	P	0.245	0.38823	B	0.000017	0.62929	D	0.068121	0.999957	0.52396	D	2.19	0.61577	M	-0.91	0.75001	T	-1.11	0.32590	N	0.664	0.69913	-0.3639	0.73147	T	0.321	0.68969	T	10	0.5684289	0.65182	D	0.025735	0.48694	D	0.140	0.37593	0.415	0.45380	0.540788926979	0.53731	0.3565611804508708	0.35570	0.0944205393079	0.10659	0.618504464626	0.55518	T	0.009798	0.22075	T	0.0398895	0.57031	T	-0.180478	0.56479	T	0.887204945087433	0.53768	D	0.927507	0.76468	D	0.18236344	0.39452	0.20554167	0.44728	0.18236344	0.39452	0.20554167	0.44727	-8.597	0.65069	D	.	.	0.375	0.58481	A	.;.;.;.;.	.;.;.;.;.	3.900673	0.56818	23.8	0.98991577516561191	0.49943	0.95738	0.65944	D	AEFI	0.612874	0.60078	D	0.34590435369314	0.58524	4.025117	0.408576527827058	0.62098	4.419675	0.884394735209087	0.25694	0.553676	0.25195	0	0.573888	0.26702	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	4.93	4.93	0.64394	4.954000	0.63335	4.847000	0.45339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.234	0.73109	928	0.17405	CS domain;CS domain;CS domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	991.33	36	chr8	132615045	.	C	G	991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.515;DP=726;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=1.63;SOR=0.811	GT:AD:DP:GQ:PL	0/1:62,44:106:99:1005,0,1518	18	0	1	0
chr8	132804005	132804005	G	C	exonic	PHF20L1	.	nonsynonymous SNV	PHF20L1:NM_001277196:exon6:c.G616C:p.D206H,PHF20L1:NM_001362971:exon6:c.G616C:p.D206H,PHF20L1:NM_198513:exon6:c.G616C:p.D206H,PHF20L1:NM_016018:exon7:c.G694C:p.D232H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0217428298653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0042	0.0012	0.0011	0.0014	0.0011	0.0011	0.0014	0.0013	0.0008	6.755e-05	0.0005	0.0002	0.0001	0.0005	0.0014	0.0012	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.061	0.60337	T	0.808	0.45299	P	0.748	0.55971	P	0.142512	0.18241	N	0.607210	0.990395	0.81001	D	0	0.06538	N	0.79	0.49358	T	-2.41	0.52938	N	0.218	0.33140	-0.8119	0.54435	T	0.133	0.44622	T	10	0.1628164	0.30505	T	0.021743	0.44549	T	0.133	0.36157	0.088	0.00943	0.110392049598	0.10638	0.3606634752202491	0.35980	0.966220291154	0.73190	0.357738494873	0.19055	T	0.078333	0.35868	T	-0.114604	0.34010	T	-0.402397	0.33106	T	0.784143755589366	0.45311	D	0.943306	0.81134	D	0.2447809	0.47430	0.25823152	0.51552	0.2447809	0.47430	0.25823152	0.51551	-6.4	0.58645	T	.	.	0.217	0.48948	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.821248	0.78525	26.9	0.99493893563194913	0.67630	0.98845	0.87614	D	AEFDBI	0.837614	0.75522	D	0.361968079601839	0.59374	4.116332	0.491946387230629	0.67454	5.086353	0.999743363373417	0.42466	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	7.656000	0.82725	11.836000	0.97677	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.256	0.89958	887	0.27948	Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;Domain of unknown function DUF3776;.;Domain of unknown function DUF3776;Domain of unknown function DUF3776	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	205.76	51	chr8	132804005	.	G	C	205.76	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-2.755;DP=1004;ExcessHet=0.7564;FS=127.828;InbreedingCoeff=-0.2588;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=0.111;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:45,11:59:24:.:.:24,0,875:.	9	0	4	6
chr8	132893891	132893891	G	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon11:c.G2963A:p.R988H	Thyroid dyshormonogenesis 3, Autosomal recessive	0	1420	80	3	19	105	0.0293917	.	.	.	700402	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	.	.	0.0113818	0.0062	0.0136	0.0065	0	0.0002	0.0047	0.0198	0.0125	0.0060931	942	154602	rs16893332	0.0039	0.0039	0.0036	0.0043	0.0326	0.0039	0.0038	0.0288	0.0273	0.0148	0.0069	0.0242	5.038e-05	3.744e-05	0.0326	0.0023	0.0071	0.0129	0.0076	0.0076	0.0075	0.0078	0.0141	0.0072	0.0071	0.0120	0.0116	0.0129	0.0694	0.0091	0.0271	0.0002	0	0.0272	0.0034	0.0095	0.0141	0.145	0.25154	T	0.23	0.25135	T	0.014	0.16867	B	0.002	0.06944	B	0.225609	0.03484	N	1.557920	1	0.08975	P	1.995	0.54099	M	-0.05	0.63403	T	-0.61	0.18042	N	0.072	0.04547	-1.0384	0.17802	T	0.130	0.43907	T	9	0.0039331317	0.00075	T	.	.	.	0.031	0.07369	.	.	0.489036454283	0.48535	0.4654018044957635	0.46459	0.0845940308932	0.09560	0.33510312438	0.15703	T	0.031147	0.21906	T	-0.600481	0.00145	T	-0.62365	0.10901	T	0.00297776578759739	0.00031	T	0.612539	0.23323	T	0.057231065	0.11362	0.022166258	0.00247	0.057231065	0.11362	0.022166258	0.00247	-4.793	0.34510	T	0.2324255815871423	0.31459	0.086	0.10449	B	.	.	1.354724	0.17631	13.28	0.93809713431198005	0.23783	0.05774	0.11706	N	ALL	0.057441	0.10699	N	-1.0196633219255	0.08196	0.383451	-1.04276711803798	0.08857	0.4376336	0.999999974337892	0.74766	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.14	-0.246	0.12380	-0.135000	0.10399	0.321000	0.17185	0.661000	0.55757	0.000000	0.06391	0.004000	0.18990	0.070000	0.16646	0.3158:0.2552:0.2984:0.1306	1.132	0.01640	808	0.43318	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1022.33	34	chr8	132893891	.	G	A	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=733;ExcessHet=0;FS=2.683;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-2.069;SOR=1.038	GT:AD:DP:GQ:PL	0/1:61,41:102:99:1036,0,1492	18	0	1	0
chr8	143081057	143081057	G	A	exonic	LY6L	.	nonsynonymous SNV	LY6L:NM_001368160:exon1:c.G4A:p.E2K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00683729284553	.	.	0.0004	0	0	0	.	0	0	0.0005	2.59e-05	4	154602	rs775221239	1.882e-05	1.779e-05	8.569e-06	2.934e-05	0.0003	1.309e-05	1.112e-05	0.0002	0.0002	3.172e-05	0	0	0	0	0	9.279e-07	1.731e-05	0.0003	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.276e-05	3.024e-05	0	0	0	0	0	0	0	0	0	0.0004	0.533	0.06957	T	0.353	0.17320	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.05604	N	0.13	0.12484	.	.	.	.	.	.	.	0.029921114	0.01118	T	0.006837	0.18093	T	.	.	.	.	0.0986583533028	0.09354	0.39266138268402034	0.39181	.	.	.	.	.	0.001868	0.01280	T	-0.523609	0.00419	T	-0.644967	0.09311	T	.	.	.	.	.	.	0.027388776	0.01923	0.059637047	0.11227	0.027388776	0.01923	0.059637047	0.11227	-3.573	0.17467	T	.	.	0.183	0.39765	B	.	.	0.389167	0.07609	4.269	0.7005834438336429	0.09172	0.01437	0.04829	N	AEFDBI	0.024863	0.01609	N	.	.	.	.	.	.	0.774941734603237	0.23736	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	2.17	0.216	0.14533	0.513000	0.22476	.	.	-0.227000	0.07798	0.057000	0.21666	0.035000	0.21413	0.007000	0.07825	0.1514:0.2547:0.5939:0.0	4.755	0.12454	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2309.81	33	chr8	143081057	.	G	A	2309.81	.	AC=2;AF=0.053;AN=38;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.8;SOR=1.402	GT:AD:DP:GQ:PL	1/1:0,75:75:99:2337,225,0	18	1	0	0
chr8	143872949	143872949	C	A	exonic	EPPK1	.	nonsynonymous SNV	EPPK1:NM_031308:exon2:c.G305T:p.G102V	.	8	1493	20	1	0	22	0.00731383	.	.	.	3213102	EPPK1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.626	0.212623314097	0.0023	0.00159744	0.0026	0.0006	0.0019	0	0.0033	0.0039	0.0012	0.0004	0.0025032	387	154602	rs150047119	0.0027	0.0027	0.0028	0.0027	0.0085	0.0027	0.0026	0.0066	0.0059	0.0003	0.0024	0.0028	0	0.0029	0.0085	0.0031	0.0028	0.0006	0.0022	0.0022	0.0022	0.0022	0.0032	0.0020	0.0019	0.0026	0.0025	0.0005	0	0.0032	0.0035	0	0.0037	0.0034	0.0030	0.0024	0.0002	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.996035	0.42982	D	3.015	0.86134	M	.	.	.	.	.	.	0.298	0.33687	0.440	0.89680	D	0.667	0.88452	D	9	0.021434188	0.00512	T	0.212623	0.87365	D	.	.	.	.	0.725777491668	0.72335	0.6858753226174671	0.68527	.	.	0.479449719191	0.35980	T	0.226334	0.59133	T	-0.172793	0.24814	T	-0.022455	0.68867	D	0.0617914585586412	0.07448	T	0.540746	0.18332	T	0.27580762	0.50644	0.28303823	0.54294	0.27580762	0.50644	0.28303823	0.54293	-11.072	0.80051	D	.	.	0.562	0.67293	A	.;.	.;.	2.750778	0.36054	20.1	0.99712121645330587	0.81423	0.44004	0.27223	N	AEFDBCI	0.228488	0.35215	N	0.368632121605946	0.59731	4.154885	0.215877206862129	0.50727	3.261809	0.99994291952032	0.47345	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	4.42	4.42	0.52775	0.597000	0.23759	.	.	-0.214000	0.08267	0.001000	0.13787	0.963000	0.29397	0.003000	0.05239	0.0:0.8928:0.0:0.1072	8.208	0.30625	964	0.07719	.;.	.	.	.	.	.	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	0.010070	0.025253	0.006793	0.020468	0.000000	0.008621	0.006098	0.003788	0.02632	1303.33	40	chr8	143872949	.	C	A	1303.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.548;DP=805;ExcessHet=0;FS=0.797;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=-0.055;SOR=0.592	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1317,0,1008	18	0	1	0
chr8	144247603	144247603	G	A	exonic	MROH1	.	nonsynonymous SNV	MROH1:NM_001288814:exon29:c.G3017A:p.R1006Q,MROH1:NM_032450:exon31:c.G3044A:p.R1015Q	.	419	1065	37	1	0	39	0.0179806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00690737734917	.	.	.	.	.	.	.	.	.	.	.	.	.	rs936258637	0.0053	0.0055	0.0048	0.0057	0.0147	0.0052	0.0051	0.0113	0.0101	0.0006	0.0034	0.0253	5.565e-05	0.0006	0.0147	0.0056	0.0066	0.0055	0.0038	0.0038	0.0041	0.0036	0.0051	0.0036	0.0035	0.0047	0.0045	0.0010	0	0.0039	0.0297	0	0.0007	0	0.0051	0.0033	0.0043	0.459	0.09458	T	0.46	0.12597	T	0.026	0.19406	B	0.001	0.04355	B	0.687961	0.10201	N	0.814201	0.999988	0.24050	N	0.53	0.13656	N	3.35	0.05989	T	0.06	0.06253	N	0.105	0.09914	-0.9061	0.47320	T	0.009	0.03011	T	10	0.005995035	0.00135	T	0.006907	0.18289	T	0.019	0.03383	0.395	0.42099	0.043077524339	0.03247	0.2598633037543448	0.25900	0.249219304912	0.27497	0.220795512199	0.01356	T	0.005178	0.04625	T	-0.358869	0.04194	T	-0.753267	0.03360	T	0.0321912840008736	0.02337	T	0.832317	0.50011	T	0.053469077	0.10121	0.060648672	0.11584	0.053469077	0.10121	0.060648672	0.11584	-7.506	0.57653	D	.	.	0.063	0.01762	B	.;.;.	.;.;.	-0.171096	0.03241	0.546	0.92187150469917256	0.21554	0.04579	0.10227	N	AEFGI	0.056406	0.10426	N	-1.1014172102638	0.06618	0.3051744	-1.09753797663091	0.07748	0.3781383	4.68950002047965E-5	0.03989	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.51	-1.81	0.07456	-1.008000	0.03774	-2.122000	0.04180	0.674000	0.70861	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.5122:0.1825:0.3053:0.0	4.322	0.10463	934	0.15400	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1139.33	39	chr8	144247603	.	G	A	1139.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.82;DP=746;ExcessHet=0;FS=3.042;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.38;ReadPosRankSum=0.231;SOR=0.385	GT:AD:DP:GQ:PL	0/1:49,43:92:99:1153,0,1340	18	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	5413.13	34	chr9	117371	.	C	*	5413.13	.	AC=7;AF=0.184;AN=38;BaseQRankSum=1.27;DP=562;ExcessHet=0.5308;FS=2.672;InbreedingCoeff=0.1364;MLEAC=7;MLEAF=0.184;MQ=45.91;MQRankSum=-4.389;QD=13.04;ReadPosRankSum=0.019;SOR=0.931	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,10:34:99:0|1:117366_C_CCG:348,0,978:117366	13	1	5	0
chr9	117991	117991	G	T	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.C129A:p.S43R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0472444436458	.	.	3.337e-05	0	8.666e-05	0.0001	0	0	0	0.0001	6.5e-06	1	154602	rs770564766	1.37e-06	2.121e-05	2.727e-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	6.571e-06	6.566e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.047	0.40319	D	0.347	0.17640	T	0.03	0.20002	B	0.006	0.12133	B	.	.	.	.	0.999887	0.19853	N	1.75	0.45442	L	-3.57	0.94904	D	-1.42	0.34992	N	0.136	0.13341	-0.4238	0.71267	T	0.597	0.85648	D	9	0.094540596	0.16818	T	0.047244	0.62833	D	0.119	0.33137	0.243	0.17677	0.159798565429	0.15598	0.23451748071704015	0.23366	.	.	0.591253340244	0.51671	T	0.015575	0.13037	T	-0.174628	0.24539	T	-0.30647	0.44037	T	0.1479651927948	0.16940	T	0.419458	0.11115	T	0.15211233	0.34547	0.1827614	0.41223	0.15211233	0.34546	0.1827614	0.41222	-2.407	0.05176	T	.	.	0.298	0.52833	B	.	.	1.160456	0.15492	11.89	0.90150108708754861	0.19429	0.04179	0.09678	N	AEFBI	0.147363	0.27102	N	-1.25192042927711	0.04274	0.1925945	-1.37452108171471	0.03525	0.1646297	0.0175857386895945	0.12967	0.446893	0.09132	0	0.578056	0.33634	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	1.75	-2.06	0.06894	0.528000	0.22711	-0.018000	0.12964	0.489000	0.22316	0.187000	0.24151	0.000000	0.08366	0.004000	0.06068	0.3454:0.2394:0.4152:0.0	2.926	0.05431	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	.	.	.	.	.	.	.	.	0.02632	706.33	47	chr9	117991	.	G	T	706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.716;DP=1043;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.69;MQRankSum=-5.675;QD=7.13;ReadPosRankSum=2.13;SOR=0.618	GT:AD:DP:GQ:PL	0/1:75,24:99:99:720,0,2992	18	0	1	0
chr9	14801771	14801771	C	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon20:c.G3575A:p.R1192H,FREM1:NM_144966:exon21:c.G3575A:p.R1192H	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	2	1502	17	1	0	19	0.00628515	.	.	.	265787	not_provided|not_specified|Oculotrichoanal_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0011	0.0215655	0.0113	0.0010	0.0118	0.1238	0.0002	0.0011	0.0111	0.0042	0.0105949	1638	154602	rs79023327	0.0049	0.0049	0.0050	0.0048	0.1230	0.0048	0.0048	0.1202	0.1190	0.0007	0.0134	0.0085	0.1230	7.49e-05	0.0036	0.0004	0.0091	0.0050	0.0070	0.0070	0.0063	0.0076	0.1245	0.0066	0.0065	0.1166	0.1134	0.0006	0	0.0161	0.0133	0.1245	0.0002	0	0.0006	0.0123	0.0062	0.118	0.28148	T	0.088	0.40586	T	0.051	0.22415	B	0.008	0.13708	B	0.061381	0.22175	N	0.526027	0.994358	0.23535	N	1.655	0.42436	L	1.5	0.31205	T	-1.53	0.37178	N	0.151	0.15469	-1.0609	0.11532	T	0.002	0.00707	T	10	0.0030071437	0.00049	T	.	.	.	0.054	0.15330	.	.	.	.	0.35582898831949117	0.35496	.	.	0.181597456336	0.00109	T	0.118763	0.43982	T	-0.623664	0.00104	T	-0.57191	0.15275	T	0.00355660901544638	0.00038	T	0.70423	0.31438	T	0.047354408	0.08081	0.035852004	0.02916	0.03898227	0.05298	0.046206243	0.06388	-4.122	0.25614	T	0.17901367257933087	0.22971	0.074	0.05060	B	.;.	.;.	1.325932	0.17306	13.08	0.97970164390597669	0.37246	0.07133	0.13159	N	AEFBI	0.084382	0.17102	N	-0.584410966229608	0.19417	1.016099	-0.595965186752504	0.19597	1.052174	0.5328656623577	0.21190	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.51	3.4	0.38031	-0.322000	0.08049	-1.056000	0.06467	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.0:0.4261:0.2462:0.3276	3.244	0.06389	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	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	2964.33	34	chr9	14801771	.	C	T	2964.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=1106;ExcessHet=0;FS=0.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.39;ReadPosRankSum=0.606;SOR=0.769	GT:AD:DP:GQ:PL	0/1:98,108:206:99:2978,0,2538	18	0	1	0
chr9	15307232	15307232	G	C	exonic	TTC39B	.	nonsynonymous SNV	TTC39B:NM_001168339:exon1:c.C92G:p.P31R,TTC39B:NM_001168340:exon1:c.C92G:p.P31R,TTC39B:NM_001168341:exon1:c.C92G:p.P31R,TTC39B:NM_152574:exon1:c.C92G:p.P31R	.	436	1076	10	0	0	10	0.00462535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0707941534212	.	0.000199681	0.0013	0.0006	0.0026	0	0	0.0016	0	0.0011	0.0005498	85	154602	rs139180585	0.0009	0.0009	0.0009	0.0010	0.0032	0.0009	0.0009	0.0020	0.0017	6.344e-05	0.0007	0.0055	5.598e-05	0.0010	0.0032	0.0008	0.0018	0.0008	0.0010	0.0010	0.0010	0.0010	0.0014	0.0009	0.0008	0.0012	0.0011	4.814e-05	0	0.0006	0.0086	0	0.0010	0.0034	0.0014	0.0024	0.0002	0.025	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.19925	N	0	0.06538	N	1.24	0.65747	T	-0.08	0.09460	N	0.171	0.25006	-1.0157	0.25110	T	0.088	0.34078	T	7	0.004478425	0.00092	T	0.070794	0.71097	D	0.025	0.05312	.	.	0.101711395817	0.09552	0.12496479779315317	0.12422	0.0485934130913	0.05311	0.558442234993	0.47048	T	0.006519	0.05951	T	-0.40992	0.01990	T	-0.362436	0.37770	T	0.0122613693759318	0.00198	T	0.414459	0.10821	T	0.039390992	0.05430	0.07526447	0.16551	0.039390992	0.05430	0.07526447	0.16551	-3.372	0.15422	T	.	.	0.071	0.13923	B	.;.;.	.;.;.	0.511930	0.08810	5.586	0.72736977072067344	0.10078	0.08375	0.14312	N	ALL	0.038761	0.05532	N	-1.13066591695033	0.06104	0.2800961	-1.2722219926765	0.04810	0.2277791	0.999999999989454	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.76	-3.11	0.04975	0.046000	0.13919	-0.219000	0.10781	-1.198000	0.01366	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.2997:0.1398:0.4118:0.1488	1.555	0.02427	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	0.003125	0.000000	0.004249	0.003012	0.000000	0.000000	0.000000	0.003876	0.02632	1439.33	33	chr9	15307232	.	G	C	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.057;DP=766;ExcessHet=0;FS=0.642;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.995;SOR=0.627	GT:AD:DP:GQ:PL	0/1:66,68:134:99:1453,0,1574	18	0	1	0
chr9	20986463	20986463	C	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon39:c.C4799T:p.T1600M,FOCAD:NM_001375570:exon39:c.C4799T:p.T1600M,FOCAD:NM_001375567:exon40:c.C4904T:p.T1635M,FOCAD:NM_017794:exon42:c.C4904T:p.T1635M	.	.	.	.	.	.	.	.	0.9988	0.88	.	2761261	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.222	0.0441924157617	.	0.000399361	0.0004	0.0001	0.0003	0.0016	0	8.187e-05	0	0.0014	0.0002911	45	154602	rs545740798	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0009	0.0008	6.05e-05	0.0005	0	0.0006	0	0.0004	9.021e-05	9.994e-05	0.0010	0.0001	0.0001	0.0001	0.0001	0.0017	8.691e-05	7.278e-05	0.0008	0.0006	9.667e-05	0	6.561e-05	0	0.0004	0	0	7.362e-05	0	0.0017	0.005	0.63226	D	0.002	0.79402	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.87	0.24085	T	-2.05	0.47008	N	0.896	0.90363	-0.8268	0.53505	T	0.181	0.52752	T	10	0.18600678	0.34047	T	0.044192	0.61368	D	0.222	0.51872	.	.	0.47558534428	0.47187	0.645385658233276	0.64473	0.0284576509371	0.02927	0.599431633949	0.52824	T	0.128597	0.45636	T	-0.201751	0.20554	T	-0.103111	0.63156	T	0.0764624414285405	0.09528	T	0.942106	0.78341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.270	0.51558	B	.;.;.	.;.;.	5.962123	0.94195	33	0.9990601965653656	0.97651	0.96798	0.70996	D	AEFGBI	0.775934	0.70920	D	0.73760046176212	0.82097	7.678815	0.704892706985487	0.82752	7.845106	0.999999999986452	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	6.065000	0.70812	6.038000	0.52989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:1.0:0.0:0.0	19.563	0.95376	485	0.77085	.;.;.	.	.	.	.	.	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	0.02632	1577.33	41	chr9	20986463	.	C	T	1577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.31;DP=834;ExcessHet=0;FS=3.864;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=-0.181;SOR=1.143	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1591,0,1194	18	0	1	0
chr9	27291022	27291022	T	C	exonic	EQTN	.	nonsynonymous SNV	EQTN:NM_001161585:exon4:c.A331G:p.K111E,EQTN:NM_020641:exon5:c.A418G:p.K140E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.00735319317269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	1.368e-06	1.363e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.92824	D	0.974	0.57829	D	0.747	0.55931	P	0.007802	0.31183	N	0.150354	0.950034	0.26517	N	1.495	0.37439	L	0.82	0.48142	T	-2.54	0.55025	D	0.428	0.46742	-0.9569	0.39753	T	0.152	0.48101	T	10	0.21391657	0.37898	T	0.007353	0.19496	T	0.159	0.41286	0.415	0.45380	0.211220785272	0.20719	0.11178998026693387	0.11107	0.00512548817874	0.00452	0.433302432299	0.29661	T	0.030927	0.21803	T	-0.0798372	0.39741	T	-0.352457	0.38923	T	0.903466880321503	0.55668	D	0.550145	0.18957	T	0.5588338	0.70445	0.5482225	0.73881	0.5588338	0.70446	0.5482225	0.73882	-3.389	0.14909	T	.	.	0.229	0.51891	B	.;.	.;.	2.032984	0.25837	16.91	0.99575970001352232	0.72682	0.20125	0.20924	N	AEFGBI	0.108008	0.21501	N	0.0357144601508952	0.43486	2.640581	-0.0413974606890503	0.37865	2.222877	0.00374687490639904	0.10261	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	3.75	2.56	0.29842	0.471000	0.21811	1.441000	0.26527	0.609000	0.47794	0.777000	0.29437	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.2338:0.7662	7.014	0.24056	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1090.33	58	chr9	27291022	.	T	C	1090.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.966;DP=899;ExcessHet=0;FS=1.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-1.262;SOR=0.797	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1104,0,1185	18	0	1	0
chr9	33548324	33548324	C	G	exonic	ANKRD18B	.	nonsynonymous SNV	ANKRD18B:NM_001353432:exon9:c.C1347G:p.D449E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0047086151746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.275	0.22016	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.9	0.50570	L	2.27	0.17431	T	-2.05	0.47008	N	0.112	0.09914	-1.0277	0.21200	T	0.030	0.12935	T	5	0.1182906	0.22359	T	0.004709	0.11722	T	0.054	0.15330	0.368	0.37687	0.221734844693	0.21761	0.056871728294846	0.05628	0.0172093298867	0.01670	0.797339856625	0.81558	T	0.02433	0.18404	T	-0.341355	0.05294	T	-0.728109	0.04413	T	0.0766162768561712	0.09548	T	0.369163	0.08660	T	0.059591915	0.12130	0.059026353	0.11008	0.059591915	0.12129	0.059026353	0.11008	-2.686	0.07186	T	.	.	0.223	0.45372	B	.	.	0.954526	0.13308	9.810	0.79774029980579675	0.12894	0.16848	0.19576	N	AEFBI	0.061913	0.11870	N	-0.514986205869522	0.21595	1.147206	-0.671432942498338	0.17677	0.9409819	0.376448138056617	0.19920	0.50712	0.20391	0	0.59043	0.45803	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	1.61	1.61	0.22752	0.095000	0.14966	-4.436000	0.02157	0.296000	0.18849	0.471000	0.26730	0.000000	0.08366	0.001000	0.02609	0.3416:0.6584:0.0:0.0	5.221	0.14687	716	0.55970	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	.	.	.	.	.	.	.	.	0.05263	5577.81	36	chr9	33548324	.	C	G	5577.81	.	AC=2;AF=0.053;AN=38;DP=957;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=57.57;QD=33.6;SOR=0.902	GT:AD:DP:GQ:PL	1/1:0,166:166:99:5605,499,0	18	1	0	0
chr9	35353502	35353502	G	T	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001371187:exon2:c.G1976T:p.G659V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.994843	0.42439	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22921902	0.39845	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.564244	0.19889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28406	B	.	.	2.407418	0.30938	18.59	0.78354637818273776	0.12265	0.82666	0.41862	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999149095949448	0.38563	0.062308	0.01283	0	0.063388	0.01293	0	0.063197	0.01477	0	0.089874	0.02613	0	0.273315	0.33811	5.02	3.17	0.35510	2.866000	0.48119	4.538000	0.43752	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0806:0.2734:0.5051:0.1409	4.934	0.13283	128	0.94857	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	82.27	.	chr9	35353502	.	G	T	82.27	.	AC=2;AF=0.167;AN=12;DP=11;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=27.42;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	5	1	0	13
chr9	35809964	35809964	C	T	exonic	SPAG8	.	nonsynonymous SNV	SPAG8:NM_001039592:exon7:c.G1432A:p.G478R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00366597953016	.	0.000599042	4.474e-05	0	0.0003	0	0	1.553e-05	0	0	7.76e-05	12	154602	rs182433601	6.96e-05	6.84e-05	7.875e-05	6.031e-05	0.0005	5.812e-05	5.418e-05	0.0003	0.0003	6.098e-05	0.0005	0	0	0	0	6.269e-05	0.0002	0	0.0002	0.0002	0.0002	0.0002	0.0016	0.0001	0.0001	0.0011	0.0009	0	0	0.0016	0	0	0	0	4.41e-05	0.0009	0	0.898	0.02436	T	0.206	0.27056	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.57	0.29342	T	-0.67	0.21429	N	0.224	0.25989	-0.9807	0.34840	T	0.021	0.08778	T	9	0.008013219	0.00182	T	0.003666	0.08433	T	0.061	0.17616	0.299	0.26522	0.0954503805726	0.09146	.	.	.	.	.	.	.	.	.	.	-0.46949	0.00856	T	-0.596011	0.13148	T	0.0438644103705883	0.04395	T	0.332367	0.07003	T	0.049286924	0.08727	0.053730432	0.09108	0.049286924	0.08727	0.053730432	0.09107	-4.078	0.24965	T	.	.	0.118	0.28721	B	.;.	.;.	0.456877	0.08265	5.011	0.63100990775485244	0.07135	0.01110	0.04061	N	AEFBI	0.078646	0.15873	N	-1.23225749376969	0.04539	0.2050572	-1.2743339723132	0.04780	0.2263057	0.942372352243601	0.27519	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.48	-3.67	0.04187	-0.007000	0.12747	-0.872000	0.07099	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.311000	0.24761	0.2744:0.2705:0.2277:0.2274	0.288	0.00236	124	0.95048	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.05263	2294.81	33	chr9	35809964	.	C	T	2294.81	.	AC=2;AF=0.053;AN=38;DP=705;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.26;SOR=1.576	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2322,207,0	18	1	0	0
chr9	37442136	37442136	C	T	exonic	ZBTB5	.	nonsynonymous SNV	ZBTB5:NM_014872:exon2:c.G416A:p.R139H	.	431	1087	4	0	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.00873069930142	0.0002	0.000798722	0.0007	9.879e-05	0.0003	0	0	0.0003	0.0011	0.0036	0.0006015	93	154602	rs141061010	0.0004	0.0004	0.0002	0.0005	0.0040	0.0003	0.0003	0.0037	0.0035	8.961e-05	0.0002	0.0026	2.519e-05	0	0.0019	6.295e-05	0.0005	0.0040	0.0002	0.0002	0.0002	0.0003	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0.0002	0.0020	0	0	0	0.0001	0	0.0041	0.235	0.18000	T	0.159	0.31527	T	0.001	0.07471	B	0.001	0.04355	B	0.000046	0.53742	D	0.125962	0.999997	0.58761	D	0.695	0.17993	N	3.05	0.08721	T	0.95	0.01509	N	0.319	0.35938	-0.9961	0.31001	T	0.016	0.06616	T	10	0.0057759285	0.00129	T	0.008731	0.23050	T	0.158	0.41098	.	.	0.215239754934	0.21150	0.24412335563864507	0.24326	0.304373407854	0.32745	0.626783251762	0.56688	T	0.019291	0.15396	T	-0.480847	0.00731	T	-0.465269	0.26027	T	0.0271012424795707	0.01559	T	0.842916	0.51943	T	0.10248521	0.24216	0.07335236	0.15931	0.10248521	0.24216	0.07335236	0.15930	-2.747	0.07706	T	.	.	0.358	0.57060	A	.	.	3.029713	0.40581	21.2	0.99773930008033707	0.86174	0.87501	0.47061	D	AEFDBCI	0.526492	0.54882	D	-0.159967311720865	0.34812	1.991852	0.0482508688715663	0.41988	2.531865	0.999999999273547	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.54	4.65	0.57626	2.884000	0.48261	4.915000	0.45989	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9298:0.0:0.0702	14.373	0.66419	509	0.75304	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	3296.83	43	chr9	37442136	.	C	T	3296.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.864;DP=935;ExcessHet=0.119;FS=0.454;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=0.721;SOR=0.748	GT:AD:DP:GQ:PL	0/1:68,68:136:99:1827,0,1741	17	0	2	0
chr9	38424324	38424324	C	T	exonic	IGFBPL1	.	nonsynonymous SNV	IGFBPL1:NM_001007563:exon1:c.G101A:p.R34Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0455263235106	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1017396105	1.037e-06	4.719e-05	0	2.056e-06	1.339e-06	0	0	.	.	0	0	0	0	0	0	1.339e-06	0	0	6.631e-06	6.57e-06	1.295e-05	0	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	0.044	0.41096	D	0.29	0.21011	T	0.678	0.41346	P	0.043	0.24256	B	0.680114	0.10266	U	0.748593	1	0.08975	N	0	0.06538	N	2.75	0.11622	T	-0.05	0.07736	N	0.138	0.13626	-1.0277	0.21200	T	0.015	0.06234	T	10	0.12133154	0.22998	T	0.045526	0.62022	D	0.038	0.09825	0.26	0.20315	0.28297238246	0.27903	0.2599447318811263	0.25907	0.373885453608	0.38847	0.831812441349	0.86839	D	0.001552	0.00995	T	-0.253914	0.13622	T	-0.602506	0.12602	T	0.210676431655884	0.20989	T	0.453055	0.12870	T	0.08581808	0.19923	0.04206032	0.04925	0.08581808	0.19923	0.04206032	0.04925	-4.831	0.34951	T	.	.	0.093	0.13876	B	.	.	2.685035	0.35034	19.79	0.99775897553971349	0.86346	0.01645	0.05289	N	AEFDBHCI	0.029239	0.02722	N	-0.657916524253017	0.17230	0.8848538	-0.754324932856767	0.15616	0.8221912	0.999999964178279	0.74766	0.72623	0.87236	0	0.596491	0.49125	0	0.594344	0.31042	0	0.56751	0.32155	0	.	.	3.14	2.19	0.26890	2.508000	0.45111	1.386000	0.26075	0.431000	0.20936	0.125000	0.23262	0.790000	0.26855	0.009000	0.08673	0.0:0.7288:0.0:0.2711	5.480	0.16010	908	0.22609	Insulin-like growth factor-binding protein, IGFBP	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	979.33	33	chr9	38424324	.	C	T	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.896;DP=698;ExcessHet=0;FS=3.284;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=1.94;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,42:71:99:0|1:38424324_C_T:993,0,552:38424324	18	0	1	0
chr9	65737251	65737262	GAAGACGAGGTG	-	exonic	FOXD4L4	.	nonframeshift deletion	FOXD4L4:NM_199244:exon1:c.106_117del:p.V39_E42del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	1.026e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.661e-05	0	1.313e-05	2.626e-05	1.284e-05	1.344e-05	6.54e-05	2.18e-06	8.2e-07	.	.	0	0	6.54e-05	0	0	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	144.29	113	chr9	65737250	.	TGAAGACGAGGTG	T	144.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=1997;ExcessHet=0;FS=4.713;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.81;MQRankSum=-0.532;QD=0.82;ReadPosRankSum=-0.414;SOR=1.274	GT:AD:DP:GQ:PL	0/1:161,16:180:99:158,0,6969	18	0	1	0
chr9	66986995	66986995	T	C	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.A3503G:p.K1168R	.	429	1077	14	2	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00429452669895	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs565889169	0.0008	0.0008	0.0005	0.0010	0.0083	0.0007	0.0007	0.0078	0.0076	0	0.0005	0	0	0	0.0039	0.0003	0.0008	0.0083	0.0003	0.0004	0.0003	0.0003	0.0072	0.0002	0.0002	0.0052	0.0045	2.665e-05	0	0.0003	0	0	0	0	0.0001	0.0005	0.0072	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.03502	.	.	.	.	.	.	.	0.07321933	0.11035	T	.	.	.	.	.	.	.	.	.	0.0417573156486076	0.04120	.	.	.	.	.	0.001858	0.01270	T	.	.	.	.	.	.	.	.	.	0.548145	0.18826	T	.	.	.	.	.	.	.	.	-3.137	0.11726	T	.	.	0.086	0.10594	B	.	.	-0.155796	0.03325	0.581	.	.	.	.	.	.	0.010708	0.00081	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.145000	0.10248	-15.955000	0.00333	0.232000	0.18153	0.000000	0.06391	0.000000	0.08366	0.087000	0.17632	.	.	.	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	5169.79	37	chr9	66986995	.	T	C	5169.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.594;DP=1328;ExcessHet=0.3672;FS=32.074;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=34.6;MQRankSum=-1.668;QD=9.13;ReadPosRankSum=-0.716;SOR=2.24	GT:AD:DP:GQ:PL	0/1:106,72:178:99:1605,0,2845	16	0	3	0
chr9	66987736	66987736	C	A	exonic	SPATA31A3	.	nonsynonymous SNV	SPATA31A3:NM_001083124:exon4:c.G2762T:p.R921M	.	439	1082	1	0	0	1	0.000461894	.	.	.	3600923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.00151916407336	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1255321210	0.0001	0.0002	8.078e-05	0.0002	0.0021	0.0001	0.0001	0.0018	0.0017	0	0.0001	0	0	0	0.0010	1.889e-05	9.972e-05	0.0021	6.182e-05	7.23e-05	6.67e-05	5.664e-05	0.0018	3.203e-05	2.401e-05	0.0009	0.0007	0	0	0	0	0	0	0	1.508e-05	0	0.0018	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.25253	.	.	.	.	.	.	.	0.11306688	0.21230	T	.	.	.	.	.	.	.	.	.	0.3482892505535887	0.34742	.	.	.	.	.	0.081065	0.36510	T	.	.	.	.	.	.	.	.	.	0.378362	0.09086	T	.	.	.	.	.	.	.	.	-3.968	0.23323	T	.	.	0.166	0.36554	B	.	.	1.794776	0.22813	15.77	.	.	.	.	.	.	0.033353	0.03938	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562000	0.06041	-20.000000	0.00162	0.212000	0.17994	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1385.33	38	chr9	66987736	.	C	A	1385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.767;DP=812;ExcessHet=0;FS=8.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.5;MQRankSum=-0.852;QD=11.64;ReadPosRankSum=-0.231;SOR=0.61	GT:AD:DP:GQ:PL	0/1:51,68:119:99:1399,0,1131	18	0	1	0
chr9	83842257	83842257	C	T	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001271928:exon15:c.G3410A:p.R1137Q,KIF27:NM_001271927:exon16:c.G3503A:p.R1168Q,KIF27:NM_001354069:exon16:c.G3308A:p.R1103Q,KIF27:NM_001354071:exon16:c.G2045A:p.R682Q,KIF27:NM_001354070:exon17:c.G2261A:p.R754Q,KIF27:NM_017576:exon17:c.G3701A:p.R1234Q	.	.	.	.	.	.	.	.	.	.	.	4159243	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.054	0.0261817812059	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761847847	1.559e-05	1.847e-05	1.689e-05	1.427e-05	9.957e-05	1.021e-05	8.72e-06	2.637e-05	1.431e-05	9.957e-05	3.169e-05	0	0	0	0	1.553e-05	1.724e-05	0	2.629e-05	2.627e-05	3.854e-05	1.345e-05	4.409e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0	0	0.41	0.32769	T	0.432	0.13634	T	0.026	0.19406	B	0.001	0.06944	B	0.611956	0.05706	N	1.256500	1	0.08975	N	0	0.06538	N	-0.37	0.68892	T	-0.84	0.22944	N	0.1	0.16447	-0.9874	0.33249	T	0.154	0.48516	T	10	0.059860796	0.07262	T	0.026182	0.49106	D	0.054	0.15330	.	.	0.452640719197	0.44884	0.05664434097378786	0.05605	1.63114432994	0.89223	0.215875700116	0.01085	T	0.004352	0.03758	T	-0.221664	0.17768	T	-0.556182	0.16737	T	0.0469663306809148	0.04958	T	0.713029	0.32487	T	0.02834029	0.02157	0.030226963	0.01453	0.02834029	0.02156	0.030226963	0.01453	-3.428	0.18539	T	.	.	0.071	0.04316	B	.;.;.	.;.;.	0.437829	0.08080	4.806	0.90524672281213481	0.19781	0.01638	0.05273	N	AEFI	0.053073	0.09530	N	-0.919736353381989	0.10381	0.49579	-0.873125560292655	0.12733	0.6566689	5.44862009979663E-4	0.07273	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.24	2.22	0.27116	0.358000	0.19952	-1.172000	0.06122	-1.875000	0.00548	0.187000	0.24151	0.000000	0.08366	0.126000	0.19410	0.0:0.4491:0.2395:0.3114	2.901	0.05357	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	.	.	.	.	.	.	.	.	0.02632	586.33	27	chr9	83842257	.	C	T	586.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=624;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.84;MQRankSum=-2.39;QD=11.28;ReadPosRankSum=0.111;SOR=0.693	GT:AD:DP:GQ:PL	0/1:30,22:52:99:600,0,728	18	0	1	0
chr9	85621235	85621235	A	G	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon14:c.T2222C:p.I741T,AGTPBP1:NM_001286717:exon14:c.T2102C:p.I701T,AGTPBP1:NM_001330701:exon15:c.T2066C:p.I689T,AGTPBP1:NM_015239:exon15:c.T1946C:p.I649T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.0158946789646	7.7e-05	.	8.317e-05	0	0	0	0	0.0001	0	6.103e-05	7.12e-05	11	154602	rs201128102	3.862e-05	4.036e-05	3.294e-05	4.443e-05	0.0019	2.985e-05	2.698e-05	0.0010	0.0008	0	0	0.0014	0	0	0.0019	4.759e-06	5.541e-05	5.179e-05	5.91e-05	5.905e-05	8.996e-05	2.685e-05	2.941e-05	3.075e-05	2.209e-05	4.88e-06	1.83e-06	0	0	0	0.0017	0	0	0.0034	2.941e-05	0	0	0.004	0.65419	D	0.086	0.42614	T	0.203	0.53183	B	0.219	0.47081	B	0.000002	0.62929	D	0.099644	0.999931	0.81001	D	1.745	0.45235	L	2.04	0.20808	T	-3.77	0.71397	D	0.659	0.72567	-0.5718	0.65943	T	0.255	0.62507	T	10	0.13475543	0.25644	T	0.015895	0.36884	T	0.253	0.56294	.	.	0.475272412942	0.47157	0.5537753525088746	0.55303	1.28143259134	0.82544	0.690403461456	0.65765	T	0.455622	0.79470	T	-0.119643	0.33182	T	-0.25633	0.49189	T	0.264012714296674	0.23490	T	0.958004	0.84234	D	0.3755935	0.58995	0.41518283	0.65640	0.3755935	0.58996	0.41518283	0.65640	-7.748	0.59720	D	.	.	0.168	0.41557	B	.;.;.;.	.;.;.;.	4.293304	0.65498	24.8	0.995443967817078	0.70711	0.99749	0.99180	D	AEFBI	0.881921	0.80965	D	0.510005551851246	0.67679	5.114014	0.577987378801632	0.73365	5.958449	0.999999988307782	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	8.375000	0.90028	11.239000	0.90365	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.674	0.77053	757	0.50970	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.02632	555.33	34	chr9	85621235	.	A	G	555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.17;DP=709;ExcessHet=0;FS=3.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=0.175;SOR=1.125	GT:AD:DP:GQ:PL	0/1:49,28:77:99:569,0,1025	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:194,143:354:99:981,0,3135	1	0	18	0
chr9	93471348	93471348	C	G	exonic	FAM120A	.	nonsynonymous SNV	FAM120A:NM_001286722:exon2:c.C682G:p.L228V,FAM120A:NM_001286723:exon2:c.C682G:p.L228V,FAM120A:NM_001286724:exon2:c.C682G:p.L228V,FAM120A:NM_014612:exon2:c.C682G:p.L228V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.0233250208303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.065	0.92824	T	0.875	0.90584	P	0.467	0.86255	P	0.000055	0.53742	D	0.000000	0.999967	0.52935	D	2.32	0.66415	M	0.7	0.51474	T	-2.1	0.47852	N	0.857	0.86511	-0.6205	0.63968	T	0.253	0.62246	T	10	0.7059058	0.72735	D	0.023325	0.46285	T	0.351	0.67234	0.603	0.73466	0.659038424525	0.65618	0.5513577234695306	0.55061	1.82181212601	0.91961	0.742148637772	0.73288	T	0.109827	0.42402	T	0.227444	0.76480	D	0.0889313	0.76173	D	0.8989841827697	0.55120	D	0.880112	0.60417	D	0.27771616	0.50828	0.24600185	0.50100	0.27771616	0.50828	0.24600185	0.50099	-14.123	0.93449	D	.	.	0.391	0.69399	A	.;.;.	.;.;.	4.640608	0.73874	26.1	0.99829109608136868	0.91112	0.98281	0.81223	D	AEFDBIJ	0.944438	0.95153	D	0.438840748009051	0.63574	4.593621	0.439587488238468	0.64051	4.651649	0.999999999986672	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.631177	0.49321	0	.	.	5.14	4.23	0.49319	5.949000	0.69973	4.089000	0.41792	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1402:0.8598:0.0:0.0	15.419	0.74722	952	0.10565	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1985.33	40	chr9	93471348	.	C	G	1985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.606;DP=777;ExcessHet=0;FS=6.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.357;SOR=0.333	GT:AD:DP:GQ:PL	0/1:70,77:147:99:1999,0,2056	18	0	1	0
chr9	97910062	97910062	G	A	exonic	TRMO	.	nonsynonymous SNV	TRMO:NM_001371661:exon3:c.C526T:p.R176C,TRMO:NM_001371657:exon4:c.C964T:p.R322C,TRMO:NM_001371658:exon4:c.C964T:p.R322C,TRMO:NM_001371659:exon4:c.C742T:p.R248C,TRMO:NM_001371660:exon4:c.C526T:p.R176C,TRMO:NM_016481:exon4:c.C964T:p.R322C,TRMO:NM_001330725:exon5:c.C526T:p.R176C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00184945792955	.	.	8.252e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs748977487	1.027e-05	1.026e-05	9.532e-06	1.101e-05	0.0002	6.17e-06	4.89e-06	2.995e-05	2.038e-05	0	0	0	2.52e-05	0	0.0002	6.299e-06	0	6.957e-05	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	0.202	0.21968	T	0.192	0.29540	T	0.0	0.02946	B	0.0	0.01387	B	0.055501	0.02073	N	1.762110	1	0.08975	N	.	.	.	0.93	0.44065	T	0.58	0.04776	N	0.074	0.04790	-1.0063	0.28065	T	0.037	0.15986	T	10	0.062455744	0.07987	T	0.001849	0.03219	T	0.012	0.01476	.	.	0.0762999501168	0.06990	0.22718224281291777	0.22633	0.170774591595	0.19242	.	.	.	0.003473	0.04103	T	-0.444101	0.01223	T	-0.778843	0.02488	T	0.0381384393309724	0.03357	T	0.236176	0.03286	T	0.02521314	0.01434	0.020599617	0.00144	0.02521314	0.01433	0.020599617	0.00144	-4.241	0.27341	T	.	.	0.063	0.02145	B	.;.	.;.	-1.255766	0.00477	0.010	0.49025328435998877	0.04140	0.00617	0.02730	N	AEFBI	0.025161	0.01680	N	-2.10123137172589	0.00127	0.005454469	-2.18567089141788	0.00120	0.005295629	0.999999999999887	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.5	-9.0	0.00641	-1.762000	0.01902	-6.375000	0.01416	-2.842000	0.00175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4611:0.2301:0.2319:0.0769	4.14	0.09657	593	0.68665	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2173.33	47	chr9	97910062	.	G	A	2173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=791;ExcessHet=0;FS=5.247;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.31;ReadPosRankSum=-1.33;SOR=0.325	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,57:107:99:0|1:97910056_C_T:2187,0,1896:97910056	18	0	1	0
chr9	98826819	98826819	C	A	exonic	GALNT12	.	nonsynonymous SNV	GALNT12:NM_024642:exon3:c.C609A:p.N203K	.	415	1102	5	0	0	5	0.00226347	.	.	.	475220	Colorectal_cancer,_susceptibility_to,_1|not_specified|not_provided	MONDO:MONDO:0012132,MedGen:C1837315,OMIM:608812|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.00768321348977	7.7e-05	.	9.214e-05	0	0.0002	0	0	5.476e-05	0.0015	0.0002	6.47e-05	10	154602	rs370024536	3.288e-05	3.489e-05	2.044e-05	4.545e-05	0.0003	2.547e-05	2.252e-05	0.0002	0.0002	0	2.24e-05	0	0	0	0.0002	1.349e-05	3.319e-05	0.0003	2.628e-05	2.627e-05	1.285e-05	4.034e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.75	0.03587	T	1.0	0.01155	T	0.454	0.36182	P	0.138	0.33406	B	0.026203	0.25958	N	0.500926	0.808225	0.29033	N	-0.475	0.02701	N	0.39	0.57419	T	-0.59	0.17624	N	0.323	0.36359	-1.0033	0.28963	T	0.047	0.19998	T	10	0.05025664	0.04731	T	0.007683	0.20378	T	0.096	0.27654	0.535	0.64439	0.489449420884	0.48578	0.27330403995605057	0.27243	0.249740175595	0.27555	0.318578243256	0.13206	T	0.010258	0.09278	T	-0.415403	0.01831	T	-0.570045	0.15446	T	0.0523881878896073	0.05915	T	0.847115	0.52772	T	0.14200556	0.32698	0.05513037	0.09611	0.14200556	0.32698	0.05513037	0.09610	-2.527	0.05969	T	0.10858259562300897	0.08969	0.083	0.09094	B	.	.	1.953689	0.24815	16.54	0.95868045775168487	0.28038	0.16886	0.19593	N	AEFDBI	0.100411	0.20191	N	-0.611876540908084	0.18587	0.9661562	-0.469027072553572	0.23011	1.252795	0.993747890654381	0.33337	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.96	3.91	0.44383	-0.142000	0.10293	1.772000	0.28642	0.599000	0.40250	0.009000	0.18154	0.881000	0.27706	0.328000	0.25156	0.0:0.664:0.0:0.336	5.186	0.14510	850	0.35610	Glycosyltransferase 2-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	0.002018	0.000000	0.002717	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1155.33	35	chr9	98826819	.	C	A	1155.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.158;DP=732;ExcessHet=0;FS=5.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-1.724;SOR=0.512	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1169,0,1036	18	0	1	0
chr9	104526875	104526875	C	T	exonic	OR13C4	.	nonsynonymous SNV	OR13C4:NM_001001919:exon1:c.G335A:p.C112Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00743548367545	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1053644813	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	0.972	0.57405	D	0.852	0.60758	P	0.000096	0.51296	U	0.000000	0.889604	0.27906	N	2.44	0.70756	M	4.44	0.02139	T	-10.51	0.99062	D	0.53	0.55886	-1.1503	0.01016	T	0.031	0.13418	T	10	0.56585586	0.65046	D	0.007435	0.19712	T	0.104	0.29647	0.473	0.54859	0.760176033963	0.75799	0.42507608427685806	0.42424	0.053570767837	0.05910	0.321983456612	0.13722	T	0.033444	0.22914	T	-0.167845	0.25562	T	-0.478874	0.24565	T	0.997622907161713	0.92012	D	0.839416	0.51368	T	0.81768805	0.85065	0.7793302	0.86988	0.81768805	0.85066	0.7793302	0.86989	-7.184	0.55366	T	.	.	0.373	0.58017	A	.	.	3.803364	0.54811	23.5	0.98615176242537306	0.43691	0.33558	0.24857	N	AEFGBI	0.125617	0.24219	N	0.367188230024314	0.59652	4.146511	0.229021963468817	0.51463	3.328712	0.00159563887656747	0.08681	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.44	4.44	0.53164	-0.515000	0.06375	1.502000	0.26963	0.545000	0.25583	0.000000	0.06391	0.759000	0.26609	0.734000	0.35233	0.0:1.0:0.0:0.0	14.943	0.70661	634	0.64659	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2789.33	34	chr9	104526875	.	C	T	2789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.574;DP=798;ExcessHet=0;FS=1.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.41;ReadPosRankSum=-1.349;SOR=0.862	GT:AD:DP:GQ:PL	0/1:68,102:170:99:2803,0,1708	18	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	.	.	.	.	.	.	.	.	0.1765	2677.08	37	chr9	106974250	.	T	C	2677.08	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.688;DP=2043;ExcessHet=2.0135;FS=235.068;InbreedingCoeff=-0.2261;MLEAC=6;MLEAF=0.176;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=1.51;SOR=11.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,42:160:99:0|1:106974250_T_C:460,0,3270:106974250	11	0	6	2
chr9	106974252	106974252	G	A	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.G4216A:p.D1406N,ZNF462:NM_021224:exon9:c.G6811A:p.D2271N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0408367045235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.0	0.92824	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.9	0.50570	L	3.42	0.05507	T	-1.1	0.35991	N	0.785	0.79503	-1.1146	0.02703	T	0.065	0.26772	T	10	0.41275227	0.56336	T	0.040837	0.59597	D	0.240	0.54500	0.441	0.49648	0.138757226776	0.13463	0.7163974984860814	0.71582	1.77884305262	0.91374	0.91669100523	0.98061	D	0.018486	0.14891	T	-0.186331	0.22798	T	-0.505428	0.21785	T	0.864430676400788	0.51459	D	0.975002	0.91107	D	0.1619377	0.36236	0.1629017	0.37816	0.1619377	0.36236	0.1629017	0.37816	-10.165	0.76340	D	.	.	0.990	0.93507	P	.;.;.	.;.;.	5.368506	0.90010	31	0.99920868308788402	0.98721	0.99180	0.92409	D	AEFBI	0.912600	0.87345	D	0.658390178150991	0.76912	6.574868	0.70769665526324	0.82963	7.898997	0.999999999998965	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	9.564000	0.97283	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.759	0.96302	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	861.73	45	chr9	106974252	.	G	A	861.73	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.021;DP=1244;ExcessHet=0.3672;FS=197.718;InbreedingCoeff=-0.09;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=1.32;SOR=9.19	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,42:160:99:0|1:106974250_T_C:460,0,3270:106974250	17	0	2	0
chr9	109013418	109013418	C	T	exonic	CTNNAL1	.	nonsynonymous SNV	CTNNAL1:NM_001286974:exon1:c.G25A:p.G9S,CTNNAL1:NM_003798:exon1:c.G25A:p.G9S	.	.	.	.	.	.	.	.	.	.	.	2291305	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.092	0.723960928053	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs756612898	8.401e-05	8.345e-05	7.985e-05	8.828e-05	0.0003	7.116e-05	6.655e-05	0.0002	0.0001	0	0.0003	0	0	2.113e-05	0.0002	9.348e-05	7.3e-05	0	2.63e-05	2.627e-05	3.856e-05	1.346e-05	4.414e-05	8.15e-06	5.14e-06	1.172e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.414e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.938	0.52538	P	0.152	0.34249	B	0.002247	0.36929	N	0.101002	0.999979	0.18612	N	0.695	0.17993	N	1.43	0.71068	T	0.26	0.05503	N	0.125	0.12341	-0.8863	0.49248	T	0.125	0.42945	T	10	0.19294024	0.35043	T	0.723961	0.97771	D	0.092	0.26621	.	.	0.733027900626	0.73064	0.2693937547201942	0.26852	1.88731367476	0.92685	0.797919511795	0.81646	T	0.009185	0.08381	T	-0.240921	0.15232	T	-0.251778	0.49641	T	0.22998147070892	0.21950	T	0.692631	0.30204	T	0.25050125	0.48052	0.42656165	0.66429	0.25050125	0.48052	0.42656165	0.66429	-4.498	0.30954	T	.	.	0.114	0.29533	B	.;.;.	.;.;.	1.734616	0.22078	15.47	0.98808801993338924	0.46574	0.05198	0.11021	N	AEFBHCIJ	0.078849	0.15917	N	-0.372294120327352	0.26460	1.444288	-0.389377117707037	0.25313	1.39126	0.999999999998767	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.82	3.82	0.43153	0.302000	0.18947	0.710000	0.20927	0.575000	0.29119	0.040000	0.20979	0.001000	0.17328	0.166000	0.20848	0.0:1.0:0.0:0.0	11.086	0.47309	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	.	.	.	.	.	.	.	.	0.02632	796.33	29	chr9	109013418	.	C	T	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.59;DP=690;ExcessHet=0;FS=4.93;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=1.06;SOR=0.23	GT:AD:DP:GQ:PL	0/1:13,34:47:99:810,0,224	18	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	885.98	94	chr9	110137052	.	G	C	885.98	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.727;DP=1351;ExcessHet=1.3;FS=149.897;InbreedingCoeff=-0.3039;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.02;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:54,15:70:99:.:.:128,0,1603:.	7	0	5	7
chr9	111713160	111713160	T	C	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378212:exon13:c.A2014G:p.I672V,SHOC1:NM_001080551:exon14:c.A2119G:p.I707V,SHOC1:NM_173521:exon16:c.A2236G:p.I746V,SHOC1:NM_001378211:exon18:c.A2428G:p.I810V	.	838	646	27	11	0	49	0.0365399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	0.0012	0.00399361	0.0067	0.0001	0.0012	0	0.0002	0.0030	0.0056	0.0327	0.0043919	679	154602	rs77603777	0.0026	0.0026	0.0017	0.0035	0.0273	0.0025	0.0025	0.0264	0.0260	0.0001	0.0008	0.0049	5.142e-05	9.446e-05	0.0120	0.0009	0.0028	0.0273	0.0018	0.0018	0.0012	0.0023	0.0222	0.0016	0.0015	0.0188	0.0175	0.0003	0	0.0017	0.0043	0	0	0.0170	0.0015	0.0014	0.0222	0.112	0.35537	T	0.159	0.31527	T	.	.	.	.	.	.	0.016668	0.27917	N	0.310911	0.960653	0.26138	N	.	.	.	3.58	0.04594	T	0.01	0.06868	N	0.186	0.25006	-0.9908	0.32398	T	0.012	0.04510	T	10	0.005660802	0.00126	T	.	.	.	0.051	0.14325	.	.	0.0297737177859	0.01360	0.12250603467386734	0.12177	0.238885580098	0.26443	.	.	.	.	.	.	-0.575007	0.00207	T	-0.578462	0.14682	T	0.0271089205306504	0.01560	T	0.608739	0.23867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.30211	B	.;.;.;.	.;.;.;.	1.732206	0.22045	15.46	0.9281016935863946	0.22335	0.75720	0.37088	D	AEFGI	0.152045	0.27665	N	-0.20663209233838	0.32861	1.857969	-0.156974835452625	0.33140	1.89268	0.322556305796933	0.19399	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	1.57	0.22490	0.737000	0.25812	0.461000	0.18618	0.587000	0.30956	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.1311:0.0:0.2731:0.5958	7.601	0.27245	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	0.009082	0.000000	0.006793	0.014706	0.000000	0.017241	0.003049	0.011364	0.05263	1842.83	33	chr9	111713160	.	T	C	1842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.29;DP=751;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.147;SOR=0.734	GT:AD:DP:GQ:PL	0/1:55,37:92:99:929,0,1218	17	0	2	0
chr9	113162845	113162845	G	A	exonic	SLC31A2	.	stopgain	SLC31A2:NM_001860:exon4:c.G360A:p.W120X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.283e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs780664346	1.026e-05	1.026e-05	8.169e-06	1.238e-05	0.0005	6.16e-06	4.89e-06	0.0001	7.7e-05	0	0	0	0	0	0.0005	8.095e-06	0	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000020	0.62929	D	0.126220	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.358	0.39962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.540069	0.95463	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.797884	0.99325	43	0.99429475435621995	0.64179	0.97957	0.78421	D	AEFDGBI	0.303658	0.41158	N	0.925155092949936	0.92936	11.71949	0.816822301398221	0.90937	10.64007	0.999994142986414	0.74766	0.562547	0.31514	0	0.577304	0.33150	0	0.608075	0.38828	0	0.635551	0.53088	0	.	.	6.17	5.26	0.73479	8.327000	0.89925	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1574:0.8426:0.0	13.382	0.60215	735	0.53711	.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	880.33	33	chr9	113162845	.	G	A	880.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.501;DP=750;ExcessHet=0;FS=0.908;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-0.647;SOR=0.571	GT:AD:DP:GQ:PL	0/1:31,37:68:99:894,0,777	18	0	1	0
chr9	114406373	114406373	C	T	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1165A:p.A389T,WHRN:NM_001083885:exon9:c.G1069A:p.A357T,WHRN:NM_001173425:exon9:c.G2218A:p.A740T,WHRN:NM_015404:exon9:c.G2218A:p.A740T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.0104043195806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.55530	D	0.06	0.45744	T	0.935	0.52277	P	0.63	0.51761	P	0.000095	0.51296	D	0.131649	0.999892	0.50595	D	2.3	0.65703	M	3.99	0.08547	T	-0.71	0.20145	N	0.07	0.07673	-1.1382	0.01427	T	0.033	0.14377	T	10	0.23528337	0.40585	T	0.010404	0.26893	T	0.069	0.20116	0.137	0.04097	0.42886291518	0.42503	0.25401667336260264	0.25315	0.172866943843	0.19464	0.432506769896	0.29552	T	0.111134	0.42639	T	-0.192809	0.21846	T	-0.514733	0.20829	T	0.731518745422363	0.42289	D	0.846915	0.56692	T	0.0768896	0.17418	0.16126977	0.37520	0.0768896	0.17418	0.16126977	0.37519	-3.886	0.23759	T	.	.	0.116	0.23395	B	.;.;.	.;.;.	4.606593	0.73013	25.9	0.99781838925411637	0.86867	0.81744	0.41087	D	AEFDBI	0.189864	0.31710	N	0.259724711640337	0.54121	3.578562	0.263145628950101	0.53402	3.509227	0.999999513023983	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.33	0.51083	2.145000	0.41830	3.899000	0.40339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.649000	0.32665	0.1259:0.6928:0.1814:0.0	10.526	0.44135	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1045.61	103	chr9	114406373	.	C	T	1045.61	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.404;DP=1914;ExcessHet=0.119;FS=297.34;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=2.8;ReadPosRankSum=0.078;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,34:212:99:.:.:600,0,6065:.	17	0	1	1
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,58:228:99:.:.:689,0,6014:.	4	0	13	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	6730.11	112	chr9	114406375	.	C	G	6730.11	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-6.068;DP=3407;ExcessHet=6.9875;FS=164.626;InbreedingCoeff=-0.3828;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.637;SOR=12.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,37:222:99:.:.:559,0,6003:.	8	0	10	1
chr9	115078190	115078190	G	C	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon7:c.C2427G:p.I809M	Deafness, autosomal dominant 56, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.00878347781604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.052	0.48594	T	0.062	0.43974	B	0.157	0.41466	B	0.031649	0.25138	N	0.455157	0.999371	0.21289	N	1.385	0.34509	L	0.37	0.57729	T	-1.49	0.42957	N	0.174	0.18649	-0.9607	0.39050	T	0.093	0.35363	T	10	0.062754124	0.08071	T	0.008783	0.23172	T	0.167	0.42761	0.523	0.62668	0.214338557667	0.21045	0.4477584377675798	0.44693	0.180758632047	0.20328	0.269158244133	0.06031	T	0.154346	0.49559	T	-0.211229	0.19206	T	-0.541193	0.18179	T	0.219562339362808	0.21442	T	0.683132	0.31835	T	0.22218545	0.44813	0.14378494	0.34159	0.22218545	0.44812	0.14378494	0.34158	-7.503	0.64898	D	0.2211935355224981	0.29828	0.055	0.00693	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.303227	0.00050	0.001	0.76664735961462804	0.11559	0.01490	0.04948	N	AEFBI	0.096934	0.19560	N	-1.85664557184186	0.00421	0.01810092	-2.08429198307386	0.00201	0.008876923	0.999999999991933	0.74766	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.48	-11.0	0.00133	-6.348000	0.00086	-9.012000	0.00880	-2.399000	0.00295	0.000000	0.06391	0.000000	0.08366	0.410000	0.27006	0.2957:0.1899:0.2907:0.2238	0.797	0.01001	551	0.72115	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1345.33	39	chr9	115078190	.	G	C	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.134;DP=775;ExcessHet=0;FS=3.076;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=1.66;SOR=0.423	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1359,0,844	18	0	1	0
chr9	120905208	120905208	G	A	exonic	TRAF1	.	nonsynonymous SNV	TRAF1:NM_001190947:exon6:c.C697T:p.R233C,TRAF1:NM_005658:exon8:c.C1063T:p.R355C,TRAF1:NM_001190945:exon9:c.C1063T:p.R355C	.	.	.	.	.	.	.	.	.	.	.	2394853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.358	0.0598173458593	.	.	4.14e-05	0	0	0	0	5.567e-05	0	7.16e-05	2.59e-05	4	154602	rs201773418	1.164e-05	1.163e-05	8.173e-06	1.514e-05	5.811e-05	7.09e-06	5.8e-06	2.198e-05	1.433e-05	2.989e-05	2.247e-05	0	0	0	0	7.198e-06	3.314e-05	5.811e-05	1.314e-05	1.313e-05	1.284e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	0.9	0.45248	T	-7.51	0.95074	D	0.599	0.62357	-0.4609	0.70037	T	0.277	0.64926	T	10	0.73978853	0.74875	D	0.059817	0.67791	D	0.358	0.67872	0.624	0.75916	0.804015504583	0.80218	0.6868445004809258	0.68624	0.953708688744	0.72737	0.826462864876	0.86020	D	0.52739	0.83582	D	0.0260518	0.55197	T	0.00419562	0.70607	D	0.974294662475586	0.70448	D	0.979842	0.94937	D	0.913	0.92604	0.7882054	0.87534	0.913	0.92605	0.7882054	0.87535	-9.229	0.69965	D	.	.	0.347	0.60334	A	.;.;.	.;.;.	5.781968	0.93528	33	0.99938181921806057	0.99698	0.80625	0.40214	D	AEFDBHCI	0.596427	0.59060	D	0.764489850613137	0.83846	8.125353	0.707295990748446	0.82934	7.891288	0.999999911616106	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	5.41	4.4	0.52402	2.630000	0.46160	9.518000	0.80930	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.7824:0.2176	13.062	0.58421	948	0.11499	.;MATH/TRAF domain|MATH/TRAF domain|TNF receptor-associated factor 1, MATH domain;MATH/TRAF domain|MATH/TRAF domain|TNF receptor-associated factor 1, MATH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1626.33	34	chr9	120905208	.	G	A	1626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=746;ExcessHet=0;FS=1.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.43;ReadPosRankSum=-1.322;SOR=0.893	GT:AD:DP:GQ:PL	0/1:39,60:99:99:1640,0,885	18	0	1	0
chr9	121000045	121000045	C	A	exonic	C5	.	nonsynonymous SNV	C5:NM_001317164:exon21:c.G2569T:p.A857S	C5 deficiency	505	1015	2	0	0	2	0.000984252	.	.	.	2840709	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0	0	0	0	.	0	0	0	0.000207	32	154602	rs139479771	0.0046	0.0020	0.0050	0.0042	0.0066	0.0042	0.0040	0.0060	0.0058	0.0021	0.0058	0.0015	0	0.0022	0.0021	0.0066	0.0047	0.0001	0.0049	0.0047	0.0052	0.0046	0.0079	0.0046	0.0045	0.0073	0.0071	0.0016	0.0011	0.0050	0.0047	0	0.0012	0.0035	0.0079	0.0070	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	82.33	18	chr9	121000045	.	C	A	82.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.68;DP=336;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.33;ReadPosRankSum=-1.014;SOR=1.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,3:13:96:0|1:121000043_G_A:96,0,411:121000043	18	0	1	0
chr9	126693840	126693840	G	A	exonic	LMX1B	.	nonsynonymous SNV	LMX1B:NM_001174146:exon6:c.G914A:p.G305D	Nail-patella syndrome, Autosomal dominant	16	1474	32	0	0	32	0.0107383	.	.	.	1196037	not_specified|not_provided|LMX1B-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.108	.	0.0013	0.00319489	0.0092	0.0101	0.0093	0	0	0.0230	0	0.0040	0.0018628	288	154602	rs150656317	0.0045	0.0042	0.0044	0.0045	0.0245	0.0043	0.0043	0.0202	0.0186	0.0036	0.0039	0.0252	0	0.0004	0.0245	0.0042	0.0059	0.0031	0.0043	0.0043	0.0043	0.0043	0.0078	0.0041	0.0040	0.0066	0.0062	0.0025	0.0121	0.0078	0.0196	0.0002	0.0004	0.0510	0.0046	0.0043	0.0033	0.463	0.08660	T	0.507	0.10930	T	0.017	0.17573	B	0.007	0.12992	B	.	.	.	.	0.999979	0.18612	N	.	.	.	-1.04	0.76561	T	1.02	0.01369	N	0.103	0.09207	-1.0176	0.24495	T	0.093	0.35498	T	8	0.0039789677	0.00077	T	.	.	.	0.108	0.30607	.	.	0.434880891158	0.43107	0.7508548163077582	0.75032	1.33916717862	0.83813	.	.	.	0.097566	0.40051	T	-0.482546	0.00715	T	-0.464692	0.26090	T	0.000464322505933536	0.00004	T	0.379762	0.09155	T	.	.	.	.	.	.	.	.	-5.937	0.45749	T	.	.	0.204	0.46144	B	.;.	.;.	-0.065214	0.03855	0.832	0.30846492148849086	0.01708	0.00801	0.03263	N	AEFBI	0.036664	0.04922	N	-1.15848612729208	0.05641	0.2577192	-1.25131830733616	0.05111	0.24279	0.987308238982138	0.31233	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.02	-0.16	0.12720	-0.172000	0.09858	0.677000	0.20646	-0.939000	0.02101	0.145000	0.23581	0.035000	0.21413	0.002000	0.04165	0.0:0.2631:0.4685:0.2684	4.144	0.09675	845	0.36510	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.026846	0.006410	0.044643	0.039394	0.000000	0.029412	0.020690	0.004132	0.02632	407.33	8	chr9	126693840	.	G	A	407.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.022;DP=516;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.494;SOR=0.793	GT:AD:DP:GQ:PL	0/1:15,16:31:99:421,0,366	18	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3529	3675.71	62	chr9	127707148	.	G	C	3675.71	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-1.183;DP=1556;ExcessHet=20.8569;FS=238.955;InbreedingCoeff=-0.7271;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=2.9;ReadPosRankSum=1.4;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,32:95:99:.:.:565,0,732:.	5	0	12	2
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	1826.47	51	chr9	127707149	.	T	C	1826.47	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-1.879;DP=1323;ExcessHet=2.9153;FS=164.549;InbreedingCoeff=-0.2807;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=3.05;ReadPosRankSum=1.37;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,24:94:99:0|1:127707149_T_C:212,0,1735:127707149	10	0	7	2
chr9	128254046	128254046	C	T	exonic	DNM1	.	unknown	UNKNOWN	Epileptic encephalopathy, early infantile, 31, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs545873603	0.0001	9.166e-05	0.0001	0.0001	0.0003	9.616e-05	9.006e-05	0.0001	9.707e-05	4.349e-05	0	0	0	0.0001	0.0003	0.0001	9.089e-05	0	7.879e-05	7.873e-05	8.994e-05	6.713e-05	0.0001	4.493e-05	3.51e-05	7.91e-05	5.995e-05	2.406e-05	0	0	0	0	9.413e-05	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.757	0.75559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0581027	0.43202	T	-0.321237	0.42439	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.325463	0.17300	13.08	0.83973826120831574	0.15025	0.86984	0.46391	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.99989436901515	0.45129	0.139865	0.03177	0	0.09434	0.02614	0	0.292527	0.05481	0	0.082385	0.02281	0	0.400083	0.37636	5.22	2.36	0.28258	1.911000	0.39567	2.249000	0.31673	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.785:0.0:0.215	10.448	0.43691	327	0.86637	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	660.33	34	chr9	128254046	.	C	T	660.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.478;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-2.134;SOR=0.739	GT:AD:DP:GQ:PL	0/1:40,31:71:99:674,0,997	18	0	1	0
chr9	133208141	133208141	T	A	exonic	OBP2B	.	nonsynonymous SNV	OBP2B:NM_001288987:exon3:c.A269T:p.Y90F,OBP2B:NM_014581:exon3:c.A269T:p.Y90F	.	654	836	30	2	0	34	0.0199297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0079	0.0137	0.0018	0.0039	0.0052	0.0106	0.0048	0.0011	3.84e-05	1	26028	rs1413608059	0.0005	0.0049	0.0004	0.0007	0.0009	0.0005	0.0005	0.0007	0.0007	0.0003	0.0007	0.0004	0.0007	0.0023	0.0002	0.0004	0.0007	0.0009	0.0004	0.0040	0.0004	0.0003	0.0009	0.0003	0.0003	0.0003	0.0003	0.0002	0.0012	0.0002	0	0.0004	0.0004	0	0.0005	0.0010	0.0009	0.297	0.14645	T	0.337	0.18178	T	0.393	0.34680	B	0.257	0.39298	B	0.026576	0.25897	N	0.188123	1	0.19238	N	1.055	0.26876	L	3.25	0.06762	T	-2.4	0.52776	N	0.141	0.20262	-0.9592	0.39330	T	0.012	0.04795	T	10	0.0057539046	0.00128	T	.	.	.	0.069	0.20116	.	.	0.0297737177859	0.01360	0.3454499937520817	0.34458	0.164113916074	0.18517	0.433351457119	0.29667	T	0.033824	0.23072	T	-0.290422	0.09595	T	-0.654947	0.08611	T	0.0220651653645309	0.00916	T	0.417158	0.10968	T	0.052634977	0.09844	0.045453	0.06119	0.052634977	0.09844	0.045453	0.06119	-5.794	0.44522	T	.	.	0.071	0.11124	B	.;.;.	.;.;.	-0.024567	0.04115	0.974	0.14583370763224782	0.00327	0.00218	0.01233	N	AEFDBI	0.012910	0.00155	N	-1.56437998921638	0.01452	0.06336967	-1.64152865485638	0.01420	0.06421677	0.00212614337787241	0.09174	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	1.91	0.679	0.17141	-0.405000	0.07258	-1.122000	0.06265	-1.135000	0.01450	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.2549:0.0:0.0:0.7451	5.651	0.16894	.	.	Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain;Lipocalin/cytosolic fatty-acid binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.051309	0.073864	0.030055	0.074850	0.100000	0.025862	0.051020	0.035714	0.1471	639.25	27	chr9	133208141	.	T	A	639.25	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-0.043;DP=366;ExcessHet=1.3;FS=0.892;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.147;MQ=56.82;MQRankSum=-4.721;QD=5.07;ReadPosRankSum=-0.827;SOR=0.495	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:26,9:35:99:.:.:163,0,754:.	12	0	5	2
chr9	136474351	136474351	C	T	exonic	SEC16A	.	nonsynonymous SNV	SEC16A:NM_001276418:exon2:c.G3265A:p.A1089T,SEC16A:NM_014866:exon3:c.G3265A:p.A1089T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00593721547279	.	0.000199681	9.104e-05	0.0011	0	0	0	0	0	6.428e-05	7.12e-05	11	154602	rs537040519	3.63e-05	3.694e-05	4.224e-05	3.029e-05	0.0010	2.831e-05	2.568e-05	0.0008	0.0007	0.0010	2.241e-05	0	0.0002	0	0	6.297e-06	1.657e-05	3.481e-05	0.0002	0.0002	0.0002	0.0001	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	0	0	0	0.692	0.05881	T	0.475	0.14679	T	0.001	0.07471	B	0.001	0.04355	B	0.106164	0.02594	N	1.736900	1	0.08975	N	.	.	.	1.96	0.22270	T	0.1	0.07590	N	0.086	0.06322	-1.0026	0.29168	T	0.026	0.11309	T	10	0.008818448	0.00200	T	0.005937	0.15490	T	0.016	0.02506	.	.	0.102598925029	0.09809	0.13509928764366666	0.13433	0.0641610620683	0.07151	0.248686224222	0.03630	T	0.005644	0.05090	T	-0.654816	0.00068	T	-0.796406	0.01994	T	0.00408745398943783	0.00043	T	0.574243	0.20591	T	0.019270057	0.00455	0.03725771	0.03340	0.019270057	0.00455	0.03725771	0.03339	-4.707	0.33489	T	.	.	0.073	0.07177	B	.;.;.;.	.;.;.;.	0.545532	0.09141	5.924	0.83987802189400251	0.15033	0.24766	0.22494	N	AEFGBHCI	0.049508	0.08561	N	-1.27655754530581	0.03959	0.1778364	-1.21415060799278	0.05682	0.2714077	0.999998215510043	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	1.14	0.19817	-0.039000	0.12076	0.127000	0.14995	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.053000	0.15439	0.0:0.6951:0.0:0.3049	9.748	0.39626	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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3560.33	33	chr9	136474351	.	C	T	3560.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.519;DP=1029;ExcessHet=0;FS=1.459;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=1.97;SOR=0.584	GT:AD:DP:GQ:PL	0/1:126,145:271:99:3574,0,3192	18	0	1	0
chr9	137245108	137245108	G	C	exonic	FAM166A	.	nonsynonymous SNV	FAM166A:NM_001001710:exon4:c.C633G:p.I211M	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	.	0.0002	0.0147764	0.0059	0.0003	0.0281	0.0339	0.0002	0.0002	0.0023	0.0029	0.0054592	844	154602	rs146192138	0.0023	0.0023	0.0023	0.0023	0.0429	0.0022	0.0022	0.0412	0.0405	0.0003	0.0236	0	0.0429	5.762e-05	0.0003	0.0001	0.0036	0.0029	0.0033	0.0033	0.0031	0.0035	0.0408	0.0031	0.0030	0.0363	0.0345	0.0002	0	0.0146	0	0.0408	0	0	0.0003	0.0080	0.0052	0.061	0.37118	T	0.0	0.92824	D	0.994	0.66517	D	0.831	0.59664	P	0.000322	0.45700	D	0.095743	0.923093	0.36736	D	1.905	0.50856	L	.	.	.	-0.42	0.14193	N	0.516	0.54671	-0.6471	0.62840	T	0.076	0.30366	T	9	0.0077626407	0.00176	T	.	.	.	0.241	0.54641	.	.	0.234412748748	0.23057	0.5634359948345401	0.56270	0.0063778380859	0.00556	0.526628494263	0.42560	T	0.038084	0.24714	T	-0.38946	0.02712	T	-0.304346	0.44263	T	0.0221937040341839	0.00931	T	0.714629	0.32694	T	0.13199797	0.30749	0.10356247	0.24852	0.13199797	0.30749	0.10356247	0.24851	-2.005	0.03200	T	.	.	0.317	0.54257	B	.	.	2.215665	0.28270	17.74	0.96274139751322863	0.29260	0.81360	0.40780	D	ALL	0.298828	0.40804	N	0.440071351426113	0.63642	4.601938	0.391236569369202	0.61023	4.296889	0.999999999997533	0.74766	0.495158	0.18159	0	0.514364	0.08380	0	0.535252	0.11790	0	0.645665	0.59343	0	.	.	5.23	5.23	0.72570	0.642000	0.24426	1.862000	0.29329	0.586000	0.30580	0.081000	0.22364	1.000000	0.68203	0.379000	0.26312	0.0:0.0:1.0:0.0	14.280	0.65756	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.02632	789.33	42	chr9	137245108	.	G	C	789.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=722;ExcessHet=0;FS=2.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=0.736;SOR=1.142	GT:AD:DP:GQ:PL	0/1:37,28:65:99:803,0,1039	18	0	1	0
chr9	137279666	137279666	T	G	exonic	TOR4A	.	nonsynonymous SNV	TOR4A:NM_017723:exon2:c.T977G:p.F326C	.	437	1080	5	0	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	.	0.0211661	0.0082	0.0226	0.0371	0.0392	0	0.0003	0.0065	0.0047	0.0045795	708	154602	rs28516757	0.0025	0.0025	0.0025	0.0024	0.0338	0.0024	0.0024	0.0322	0.0316	0.0170	0.0191	0.0006	0.0338	2.757e-05	0.0025	0.0002	0.0054	0.0039	0.0083	0.0083	0.0084	0.0082	0.0402	0.0079	0.0078	0.0357	0.0340	0.0172	0	0.0176	0.0003	0.0402	0	0.0068	0.0004	0.0099	0.0037	0.176	0.22312	T	0.126	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.59	0.53943	T	-0.11	0.08653	N	0.11	0.09631	-1.0837	0.06646	T	0.011	0.04274	T	9	0.0024200678	0.00036	T	.	.	.	0.034	0.08419	.	.	0.0297737177859	0.01360	0.7652302752446954	0.76472	1.6293561875	0.89194	0.755126357079	0.75204	T	0.034567	0.23374	T	-0.620432	0.00109	T	-0.638222	0.09799	T	0.000142043531616991	0.00001	T	0.147885	0.01227	T	0.03345066	0.03567	0.033385046	0.02224	0.03345066	0.03567	0.033385046	0.02223	-4.361	0.29023	T	.	.	0.137	0.29860	B	.	.	0.370028	0.07422	4.054	0.50929529625452752	0.04471	0.07231	0.13255	N	AEFGBCI	0.040331	0.05986	N	-1.54006810942247	0.01593	0.06962702	-1.58010280436456	0.01777	0.08087423	0.999973011656619	0.50053	0.631515	0.41029	0	0.697927	0.68747	0	0.654045	0.52621	0	0.662433	0.64102	0	.	.	4.23	-3.02	0.05116	-0.336000	0.07908	0.000000	0.13247	-2.361000	0.00305	0.000000	0.06391	0.044000	0.21668	0.000000	0.00833	0.1042:0.4793:0.1288:0.2877	2.737	0.04921	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002041	0.000000	0.002740	0.002959	0.000000	0.008772	0.003067	0.003788	0.02632	2526.33	36	chr9	137279666	.	T	G	2526.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=914;ExcessHet=0;FS=0.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.61;ReadPosRankSum=-0.02;SOR=0.733	GT:AD:DP:GQ:PL	0/1:140,98:238:99:2540,0,3761	18	0	1	0
chr9	137495101	137495101	C	T	exonic	PNPLA7	.	nonsynonymous SNV	PNPLA7:NM_152286:exon18:c.G1984A:p.V662I,PNPLA7:NM_001098537:exon19:c.G2059A:p.V687I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321	0.0163806547082	.	0.000998403	0.0006	0	0	0.0012	0	0	0	0.0036	0.0004981	77	154602	rs534772592	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0	0	0.0005	0	0	5.399e-06	0.0003	0.0027	0.0001	0.0001	0.0001	0.0001	0.0035	9.736e-05	8.251e-05	0.0022	0.0018	4.809e-05	0	0	0	0.0004	0	0	1.47e-05	0	0.0035	0.221	0.18889	T	0.165	0.31730	T	0.734	0.42776	P	0.19	0.36341	B	0.000804	0.41658	N	0.203312	0.633987	0.54805	D	1.33	0.33268	L	-3.15	0.92938	D	-0.66	0.19085	N	0.107	0.13198	-0.3684	0.73010	T	0.534	0.82728	D	10	0.0121332705	0.00262	T	0.016381	0.37609	T	0.321	0.64318	0.362	0.36711	0.166414681773	0.16258	0.46760351748575724	0.46679	0.182014968346	0.20459	0.447243601084	0.31568	T	0.230829	0.59699	T	-0.323156	0.06642	T	-0.240332	0.50766	T	0.0362492740060078	0.03025	T	0.927307	0.73215	D	0.017408766	0.00270	0.051656477	0.08358	0.017408766	0.00270	0.051656477	0.08357	-7.13	0.55366	T	.	.	0.068	0.06159	B	.;.	.;.	1.086971	0.14705	11.25	0.95008459294798353	0.25977	0.62108	0.31682	D	AEFDBI	0.116359	0.22840	N	-0.922663378501381	0.10313	0.4922331	-0.957093102993382	0.10758	0.5439375	0.816841863747361	0.24453	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.65	-0.635	0.10934	3.172000	0.50532	-0.205000	0.10907	-0.961000	0.01979	0.994000	0.38300	0.000000	0.08366	0.011000	0.09372	0.1338:0.5346:0.0:0.3316	5.395	0.15564	994	0.00715	Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-binding domain|Cyclic nucleotide-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	0.000504	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2369.33	37	chr9	137495101	.	C	T	2369.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.788;DP=868;ExcessHet=0;FS=1.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=1.57;SOR=0.866	GT:AD:DP:GQ:PL	0/1:99,99:198:99:2383,0,2486	18	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:93,36:129:34:34,0,1697	2	0	17	0
chr10	4830696	4830696	G	A	exonic	AKR1E2	.	nonsynonymous SNV	AKR1E2:NM_001040177:exon2:c.G61A:p.E21K,AKR1E2:NM_001271021:exon2:c.G61A:p.E21K,AKR1E2:NM_001271025:exon2:c.G61A:p.E21K	.	431	1079	11	1	0	13	0.00598802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	0.0004	0.00219649	0.0020	0.0003	0.0005	0	0.0005	0.0006	0.0011	0.0117	0.0017529	271	154602	rs111857204	0.0011	0.0011	0.0008	0.0014	0.0113	0.0010	0.0010	0.0107	0.0105	0.0004	0.0004	0	0	0.0003	0.0055	0.0004	0.0013	0.0113	0.0007	0.0007	0.0005	0.0009	0.0118	0.0006	0.0005	0.0094	0.0085	7.22e-05	0	0.0001	0	0	0.0002	0.0034	0.0006	0.0005	0.0118	0.044	0.53172	D	0.094	0.49663	T	0.535	0.37805	P	0.229	0.38155	B	0.026722	0.25870	N	0.401767	0.98285	0.24931	N	0.36	0.11994	N	0.7	0.51474	T	-3.04	0.62863	D	0.314	0.41754	-1.0313	0.20034	T	0.063	0.26244	T	10	0.009253293	0.00209	T	.	.	.	0.059	0.16972	.	.	0.410734915765	0.40690	0.6114099410288499	0.61072	0.124813072695	0.14060	0.333933621645	0.15526	T	0.029026	0.23939	T	-0.486097	0.00683	T	-0.460633	0.26530	T	0.0231504563305682	0.01041	T	0.905209	0.66592	D	0.31343952	0.54082	0.19461846	0.43094	0.31343952	0.54082	0.19461846	0.43093	-6.474	0.53946	T	.	.	0.105	0.19114	B	.;.;.;.;.	.;.;.;.;.	1.899211	0.24122	16.28	0.99441545312632951	0.64770	0.62896	0.31921	D	AEFDBI	0.157981	0.28357	N	-0.676103376624	0.16704	0.8533712	-0.753676146922622	0.15632	0.8231046	0.99995716506675	0.48110	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.95	-1.24	0.08948	2.088000	0.41287	0.692000	0.20773	0.588000	0.31329	0.468000	0.26706	0.107000	0.22748	0.511000	0.29267	0.3675:0.1488:0.4838:0.0	5.023	0.13712	982	0.03397	NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;NADP-dependent oxidoreductase domain|NADP-dependent oxidoreductase domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	544.33	41	chr10	4830696	.	G	A	544.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.734;DP=683;ExcessHet=0;FS=1.036;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.23;ReadPosRankSum=2.38;SOR=0.544	GT:AD:DP:GQ:PL	0/1:34,25:59:99:558,0,844	18	0	1	0
chr10	5747062	5747062	C	T	exonic	TASOR2	.	nonsynonymous SNV	TASOR2:NM_001321785:exon15:c.C3398T:p.T1133I,TASOR2:NM_017782:exon15:c.C3641T:p.T1214I,TASOR2:NM_001321783:exon16:c.C3641T:p.T1214I,TASOR2:NM_001321784:exon16:c.C3641T:p.T1214I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00391211651087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.31682	T	0.049	0.48336	D	0.001	0.07471	B	0.001	0.04355	B	0.565113	0.05447	N	1.250720	1	0.08975	N	0.97	0.24054	L	3.58	0.04594	T	-1.36	0.33798	N	0.037	0.01135	-0.9304	0.44080	T	0.015	0.05897	T	10	0.092707425	0.16346	T	0.003912	0.09211	T	0.029	0.06676	0.209	0.12639	0.043077524339	0.03247	0.15548018454177695	0.15469	0.0460939368273	0.05010	0.220497637987	0.01339	T	0.004207	0.03621	T	-0.41646	0.01802	T	-0.835992	0.01161	T	0.0236967041714846	0.01107	T	0.449255	0.12651	T	0.03548702	0.04187	0.033117417	0.02154	0.03548702	0.04187	0.033117417	0.02154	-4.09	0.25142	T	.	.	0.124	0.30945	B	.;.	.;.	0.341142	0.07149	3.729	0.96865607967595047	0.31400	0.09727	0.15418	N	AEFBCI	0.027364	0.02221	N	-0.905147437174654	0.10721	0.513697	-0.982051384858412	0.10188	0.5115682	0.124510122718908	0.16959	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.28	-1.31	0.08749	0.443000	0.21360	0.047000	0.13948	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2809:0.4743:0.0:0.2449	3.9	0.08660	552	0.72024	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1745.33	41	chr10	5747062	.	C	T	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.545;DP=1722;ExcessHet=0;FS=2.119;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=1.26;SOR=0.497	GT:AD:DP:GQ:PL	0/1:71,71:142:99:1759,0,1915	18	0	1	0
chr10	7176091	7176091	C	T	exonic	SFMBT2	.	nonsynonymous SNV	SFMBT2:NM_001018039:exon17:c.G1883A:p.R628Q,SFMBT2:NM_001029880:exon17:c.G1883A:p.R628Q	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00983821609349	.	.	1.647e-05	0	0	0.0001	0	1.498e-05	0	0	1.29e-05	2	154602	rs777488992	9.577e-06	9.577e-06	6.806e-06	1.238e-05	0.0002	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	0	0	2.519e-05	0	0.0002	8.993e-06	0	1.159e-05	1.315e-05	1.314e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.984	0.01991	T	0.626	0.07292	T	0.843	0.46605	P	0.119	0.32162	B	0.000383	0.44960	N	0.212871	1	0.08975	N	-0.145	0.04423	N	0.94	0.43672	T	-0.26	0.11185	N	0.341	0.38438	-1.0180	0.24366	T	0.029	0.12453	T	10	0.1481933	0.28068	T	0.009838	0.25653	T	0.116	0.32463	0.391	0.41443	0.082315109003	0.07666	0.31424925016028793	0.31337	0.225021565053	0.25044	0.370731025934	0.20937	T	0.014531	0.12356	T	-0.393147	0.02566	T	-0.633376	0.10161	T	0.172640356818923	0.18758	T	0.855714	0.54342	D	0.024008572	0.01192	0.03745475	0.03401	0.024008572	0.01191	0.03745475	0.03400	-2.489	0.05707	T	.	.	0.072	0.04119	B	.;.	.;.	3.682938	0.52433	23.2	0.75893161625476957	0.11252	0.54058	0.29522	D	AEFDBI	0.143945	0.26678	N	-0.417558624353333	0.24853	1.344946	-0.304887056059175	0.27942	1.554077	0.970864693798234	0.29241	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.83	3.96	0.45097	2.223000	0.42578	4.053000	0.41524	0.599000	0.40250	0.967000	0.34061	0.999000	0.35428	0.984000	0.60418	0.0:0.7735:0.0:0.2265	8.875	0.34501	966	0.07191	SLED domain;SLED domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2109.33	34	chr10	7176091	.	C	T	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.05;DP=798;ExcessHet=0;FS=1.965;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=2.18;SOR=0.901	GT:AD:DP:GQ:PL	0/1:75,88:163:99:2123,0,1685	18	0	1	0
chr10	15168558	15168558	G	C	exonic	NMT2	.	nonsynonymous SNV	NMT2:NM_004808:exon1:c.C55G:p.Q19E	.	402	1119	1	0	0	1	0.000446628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.854045534267	.	0.000399361	0.0002	0	8.761e-05	0	0	3.11e-05	0.0046	0.0008	0.0001423	22	154602	rs544927506	9.085e-05	9.029e-05	5.108e-05	0.0001	0.0009	7.795e-05	7.333e-05	0.0007	0.0007	0	0	0	0	0	0.0002	4.616e-05	8.375e-05	0.0009	3.29e-05	3.282e-05	2.574e-05	4.038e-05	0.0006	1.262e-05	7.99e-06	0.0002	9.007e-05	0	0	6.538e-05	0	0	0	0	1.473e-05	0	0.0006	0.348	0.12386	T	0.659	0.06533	T	0.062	0.23277	B	0.011	0.15521	B	0.000014	0.62929	U	0.069226	0.992367	0.81001	D	1.39	0.34934	L	1.01	0.41058	T	-0.19	0.09965	N	0.383	0.42443	-1.0969	0.04487	T	0.096	0.36212	T	10	0.034914374	0.01718	T	0.854046	0.98877	D	0.181	0.45247	0.104	0.01698	0.27855597813	0.27464	0.12157808728759177	0.12084	1.30245673373	0.83054	0.894393563271	0.95795	D	0.016398	0.13566	T	-0.452688	0.01089	T	-0.490508	0.23338	T	0.112445257968984	0.13675	T	0.786121	0.42437	T	0.10723298	0.25355	0.13473505	0.32278	0.10723298	0.25355	0.13473505	0.32277	-2.344	0.04801	T	.	.	0.063	0.01470	B	.	.	3.168658	0.42966	21.6	0.6945946642922034	0.08979	0.50309	0.28633	D	ALL	0.354456	0.44653	N	-0.608906826277474	0.18676	0.9715093	-0.650078858176117	0.18215	0.9720505	1.0	0.98316	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.273489	0.05413	2	.	.	2.77	1.82	0.24209	4.694000	0.61446	10.865000	0.83990	0.444000	0.21144	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.1858:0.8142:0.0	11.386	0.49024	823	0.40596	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2496.33	35	chr10	15168558	.	G	C	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.734;DP=918;ExcessHet=0;FS=2.802;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=1.26;SOR=0.892	GT:AD:DP:GQ:PL	0/1:132,118:250:99:2510,0,3143	18	0	1	0
chr10	25412396	25412396	A	G	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon4:c.A1258G:p.I420V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.00580834291211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399001129	2.053e-06	1.026e-05	2.724e-06	1.376e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.8e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.92	0.02309	T	1.0	0.01155	T	0.008	0.14655	B	0.009	0.14300	B	0.000003	0.62929	D	0.000000	0.999426	0.47006	D	0.6	0.15550	N	0.18	0.60361	T	0.44	0.03243	N	0.27	0.30574	-0.9792	0.35186	T	0.087	0.33662	T	10	0.1521804	0.28750	T	0.005808	0.15101	T	0.171	0.43483	0.448	0.50793	0.161926535498	0.15789	0.3829631867473734	0.38211	0.0840598745579	0.09481	0.538012385368	0.44165	T	0.017669	0.14377	T	-0.0274371	0.47788	T	-0.277188	0.47092	T	0.737176895141602	0.42586	D	0.822218	0.48193	T	0.105158724	0.24861	0.12171046	0.29365	0.105158724	0.24861	0.12171046	0.29364	-5.917	0.45579	T	.	.	0.067	0.04932	B	.;.	.;.	2.077376	0.26423	17.11	0.68464587669978927	0.08666	0.88581	0.48576	D	AEFI	0.384824	0.46580	N	-0.305378770948769	0.28943	1.600737	-0.0121809945739852	0.39164	2.317966	0.184655415091531	0.17919	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	4.720000	0.61636	9.251000	0.79490	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.806	0.85530	832	0.38914	.;GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	493.79	37	chr10	25412396	.	A	G	493.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.433;DP=1099;ExcessHet=0.3672;FS=177.802;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=0.806;SOR=9.507	GT:AD:DP:GQ:PL	0/1:96,37:133:99:143,0,1769	16	0	3	0
chr10	27240384	27240384	G	A	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001271512:exon1:c.C110T:p.T37M,ACBD5:NM_001352571:exon1:c.C110T:p.T37M,ACBD5:NM_001352586:exon1:c.C110T:p.T37M,ACBD5:NM_001352587:exon1:c.C110T:p.T37M,ACBD5:NM_001042473:exon2:c.C11T:p.T4M,ACBD5:NM_001352568:exon2:c.C137T:p.T46M,ACBD5:NM_001352569:exon2:c.C116T:p.T39M,ACBD5:NM_001352570:exon2:c.C116T:p.T39M,ACBD5:NM_001352572:exon2:c.C137T:p.T46M,ACBD5:NM_001352573:exon2:c.C116T:p.T39M,ACBD5:NM_001352574:exon2:c.C11T:p.T4M,ACBD5:NM_001352575:exon2:c.C11T:p.T4M,ACBD5:NM_001352576:exon2:c.C11T:p.T4M,ACBD5:NM_001352577:exon2:c.C11T:p.T4M,ACBD5:NM_001352578:exon2:c.C11T:p.T4M,ACBD5:NM_001352579:exon2:c.C11T:p.T4M,ACBD5:NM_001352580:exon2:c.C11T:p.T4M,ACBD5:NM_001352581:exon2:c.C116T:p.T39M,ACBD5:NM_001352582:exon2:c.C11T:p.T4M,ACBD5:NM_001352588:exon2:c.C116T:p.T39M,ACBD5:NM_145698:exon2:c.C116T:p.T39M	.	420	1078	23	1	0	25	0.0114626	.	.	.	737443	not_provided|ACBD5-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.135	.	0.0007	0.00159744	0.0034	0.0003	0.0007	0.0002	0.0060	0.0024	0.0088	0.0114	0.002846	440	154602	rs41282238	0.0019	0.0019	0.0016	0.0023	0.0112	0.0019	0.0018	0.0106	0.0104	0.0002	0.0004	0.0061	7.557e-05	0.0058	0.0066	0.0010	0.0024	0.0112	0.0018	0.0018	0.0014	0.0023	0.0116	0.0016	0.0016	0.0092	0.0083	0.0002	0.0219	0.0002	0.0046	0.0002	0.0063	0.0068	0.0015	0.0029	0.0116	0.005	0.68238	D	0.016	0.60972	D	1.0	0.90584	D	0.927	0.66185	D	0.004502	0.33669	N	0.360028	0.994384	0.81001	D	0.805	0.20218	L	2.4	0.25509	T	-1.48	0.37566	N	0.312	0.35194	-0.9898	0.32652	T	0.108	0.39075	T	10	0.00437513	0.00089	T	.	.	.	0.135	0.36572	.	.	0.532311620844	0.52880	0.24715788570884184	0.24629	2.30488031714	0.96506	0.489432364702	0.37359	T	0.014439	0.15105	T	-0.460292	0.00979	T	-0.423566	0.30667	T	0.0278995960609738	0.01674	T	0.79912	0.73561	T	0.15304875	0.34711	0.31860933	0.57828	0.16137412	0.36141	0.24936178	0.50505	-6.309	0.49314	T	0.5477963200598464	0.61671	0.112	0.34361	B	.;.;.;.;.;.	.;.;.;.;.;.	3.974559	0.58384	24.0	0.99852887865356199	0.93191	0.88082	0.47856	D	AEFDGBHCI	0.672686	0.63900	D	0.492685321266477	0.66661	4.979143	0.506299029287174	0.68412	5.216603	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.87	4.87	0.62877	4.171000	0.58029	5.662000	0.49222	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.989000	0.64315	0.0:0.0:1.0:0.0	18.381	0.90395	693	0.58582	.;.;.;.;.;.	.	.	.	.	.	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	0.005539	0.000000	0.001359	0.008772	0.000000	0.000000	0.009146	0.015152	0.02632	1803.33	36	chr10	27240384	.	G	A	1803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=813;ExcessHet=0;FS=1.223;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.113;SOR=0.804	GT:AD:DP:GQ:PL	0/1:88,74:162:99:1817,0,2007	18	0	1	0
chr10	27862453	27862453	A	C	exonic	ARMC4	.	nonsynonymous SNV	ARMC4:NM_001290021:exon11:c.T1355G:p.L452W,ARMC4:NM_001312689:exon13:c.T1856G:p.L619W,ARMC4:NM_001290020:exon18:c.T2780G:p.L927W,ARMC4:NM_018076:exon18:c.T2780G:p.L927W	Ciliary dyskinesia, primary, 23, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	76951	Primary_ciliary_dyskinesia_23|Kartagener_syndrome	MONDO:MONDO:0014193,MedGen:C3809548,OMIM:615451,Orphanet:244|MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.721	0.11981222982	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs587777047	6.864e-07	6.84e-07	0	1.38e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.661e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000031	0.55875	D	0.081935	0.999995	0.58761	D	3.32	0.90714	M	0.73	0.50721	T	-5.53	0.86073	D	0.971	0.98167	0.443	0.89732	D	0.668	0.88504	D	10	0.8296648	0.82133	D	0.119812	0.80021	D	0.721	0.90146	0.544	0.65731	0.701847727984	0.69926	0.8649776511258799	0.86461	0.724374331737	0.62386	0.722423672676	0.70400	T	0.350579	0.71827	T	0.304935	0.83359	D	0.200241	0.83143	D	0.997721970081329	0.92263	D	0.934707	0.75503	D	0.79622835	0.83666	0.77356124	0.86636	0.79622835	0.83667	0.77356124	0.86637	-15.42	0.96759	D	.	.	0.983	0.91726	P	.	.	4.568674	0.72067	25.8	0.95915171398910948	0.28169	0.97927	0.78187	D	AEFI	0.909168	0.86545	D	0.705382199920102	0.79984	7.195057	0.617257272319801	0.76193	6.446054	0.126770319556987	0.17006	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.9	4.74	0.59717	6.174000	0.71864	7.921000	0.74526	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.9327:0.0:0.0673:0.0	12.125	0.53213	763	0.50172	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1340.33	33	chr10	27862453	.	A	C	1340.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.272;DP=718;ExcessHet=0;FS=1.64;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=1.04;SOR=0.491	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1354,0,1141	18	0	1	0
chr10	37158517	37158517	A	C	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon15:c.A1663C:p.T555P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.000872549996802	.	0.000599042	0.0003	0.0002	0.0005	0	0.0003	0.0003	0	0.0003	0.0002781	43	154602	rs16937417	0.0002	0.0002	0.0002	0.0003	0.0021	0.0002	0.0002	0.0012	0.0009	8.966e-05	0.0004	0.0003	2.524e-05	0.0006	0.0021	0.0002	0.0004	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0.0005	0	0.0003	0.0009	0	0.002	0.78490	D	0.024	0.92824	D	0.932	0.51990	P	0.84	0.60170	P	.	.	.	.	1	0.08975	P	0.345	0.11182	N	3.49	0.05071	T	-1.31	0.32791	N	0.071	0.06720	-1.0409	0.17041	T	0.023	0.09650	T	8	0.020966232	0.00493	T	8.73E-4	0.00777	T	0.081	0.23632	.	.	0.268211541103	0.26431	0.002444771748271109	0.00226	0.0116011215857	0.01090	0.653544783592	0.60490	T	0.005515	0.15785	T	-0.561899	0.00247	T	-0.704357	0.05590	T	0.0353854244334517	0.02873	T	0.250275	0.05441	T	0.06202799	0.12910	0.06292288	0.12385	0.06202799	0.12909	0.06292288	0.12385	0.348	0.00247	T	.	.	0.118	0.24123	B	.;.;.;.	.;.;.;.	1.075143	0.14579	11.14	0.69432028000272461	0.08970	0.00536	0.02476	N	AEFI	0.058414	0.10958	N	-0.985435650724091	0.08914	0.4198208	-1.27998923750798	0.04701	0.2223762	1.12769346228975E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.59	-3.17	0.04882	-0.538000	0.06209	-4.478000	0.02136	-0.751000	0.03586	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.271:0.2262:0.5027:0.0	4.203	0.09934	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1131.33	33	chr10	37158517	.	A	C	1131.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.851;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.09;MQRankSum=-4.916;QD=21.35;ReadPosRankSum=-0.089;SOR=0.829	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,29:53:99:0|1:37158517_A_C:1145,0,920:37158517	18	0	1	0
chr10	37158523	37158523	G	A	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon15:c.G1669A:p.G557R	.	732	789	1	0	0	1	0.000633312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00140731664079	0.0003	0.00199681	0.0004	0.0008	0.0006	0	0.0003	0.0004	0	0.0004	0.0005763	15	26028	rs113525905	0.0003	0.0003	0.0003	0.0003	0.0024	0.0003	0.0003	0.0015	0.0014	0.0019	0.0006	0.0004	7.571e-05	0.0006	0.0024	0.0002	0.0008	0.0005	0.0005	0.0005	0.0006	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0.0002	0.0005	0	0.0003	0.0009	0	0.013	0.53900	D	0.135	0.57587	T	0.998	0.73220	D	0.777	0.57175	P	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.4	0.05642	T	-1.25	0.31576	N	0.099	0.12484	-1.0005	0.29774	T	0.012	0.04795	T	9	0.010056257	0.00225	T	0.001407	0.02088	T	0.086	0.25016	0.233	0.16155	0.415690173769	0.41181	5.108502944508818E-4	0.00047	0.0113484043938	0.01063	0.646541714668	0.59494	T	0.004732	0.17413	T	-0.617982	0.00113	T	-0.710905	0.05248	T	0.0122985383477414	0.00199	T	0.415458	0.10884	T	0.04485973	0.07242	0.06319149	0.12479	0.04485973	0.07242	0.06319149	0.12479	-3.378	0.14762	T	.	.	0.243	0.47752	B	.;.;.;.	.;.;.;.	1.633973	0.20861	14.94	0.96579987312734206	0.30329	0.01433	0.04820	N	AEFI	0.033906	0.04106	N	-0.770856783142215	0.14074	0.6981461	-1.01223342105809	0.09516	0.4738656	1.17574922096506E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.59	-0.61	0.11023	0.979000	0.29098	-1.341000	0.05672	-0.675000	0.04277	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	0.2085:0.0:0.4852:0.3063	2.108	0.03471	934	0.15400	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003071	0.000000	0.004121	0.000000	0.000000	0.000000	0.003906	0.004274	0.02632	1128.33	33	chr10	37158523	.	G	A	1128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.902;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=54.2;MQRankSum=-4.999;QD=20.9;ReadPosRankSum=0.113;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,29:54:99:0|1:37158517_A_C:1142,0,942:37158517	18	0	1	0
chr10	48459790	48459790	C	G	exonic	ARHGAP22	.	nonsynonymous SNV	ARHGAP22:NM_001256026:exon3:c.G283C:p.E95Q,ARHGAP22:NM_001347735:exon4:c.G424C:p.E142Q,ARHGAP22:NM_001256024:exon5:c.G601C:p.E201Q,ARHGAP22:NM_001256025:exon5:c.G571C:p.E191Q,ARHGAP22:NM_021226:exon5:c.G553C:p.E185Q,ARHGAP22:NM_001347738:exon6:c.G571C:p.E191Q	.	427	1086	9	0	0	9	0.00412655	.	.	.	752111	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.142	0.00842980633544	0.0006	0.000998403	0.0015	9.639e-05	0.0003	0	0	0.0010	0	0.0062	0.0012678	196	154602	rs141575110	0.0009	0.0009	0.0007	0.0011	0.0060	0.0009	0.0008	0.0056	0.0054	8.961e-05	0.0003	0.0107	2.519e-05	0	0.0009	0.0004	0.0013	0.0060	0.0007	0.0007	0.0006	0.0009	0.0066	0.0006	0.0006	0.0048	0.0042	7.214e-05	0	0.0004	0.0110	0	0	0.0102	0.0004	0.0024	0.0066	0.411	0.28646	T	0.324	0.19480	T	0.592	0.73220	P	0.349	0.67262	B	0.000001	0.62929	D	0.056233	1	0.81001	D	1.435	0.35949	L	2.2	0.18570	T	-1.73	0.41046	N	0.285	0.32591	-1.1231	0.02144	T	0.084	0.32986	T	10	0.0058410764	0.00130	T	0.00843	0.22307	T	0.142	0.37995	.	.	0.238705975628	0.23479	0.45996758904412854	0.45914	0.351601627077	0.36998	0.567807674408	0.48367	T	0.056836	0.30398	T	-0.439707	0.01298	T	-0.402604	0.33081	T	0.0490215323719967	0.05328	T	0.878312	0.59309	D	0.3977095	0.60573	0.15204486	0.35789	0.3977095	0.60574	0.15204486	0.35789	-3.51	0.16572	T	.	.	0.078	0.28835	B	.;.;.;.;.;.	.;.;.;.;.;.	3.560714	0.50099	22.9	0.99586095798452834	0.73336	0.89500	0.50004	D	AEFDBHCIJ	0.709495	0.66356	D	0.105659509635348	0.46726	2.908665	0.195989930216317	0.49625	3.163599	1.0	0.98316	0.743674	0.98306	0	0.615948	0.52940	0	0.659943	0.59835	0	0.584449	0.35598	0	.	.	4.9	4.9	0.63643	2.008000	0.40513	5.846000	0.50293	0.549000	0.26987	0.962000	0.33725	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.242	0.86899	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.;.;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.005051	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.05263	1759.83	40	chr10	48459790	.	C	G	1759.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.704;DP=845;ExcessHet=0.119;FS=1.908;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.039;SOR=0.536	GT:AD:DP:GQ:PL	0/1:62,30:92:99:665,0,1655	17	0	2	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2333	1477.75	133	chr10	50104143	.	G	C	1477.75	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-1.885;DP=1275;ExcessHet=5.3738;FS=165.811;InbreedingCoeff=-0.429;MLEAC=8;MLEAF=0.267;MQ=56.17;MQRankSum=0.546;QD=2.07;ReadPosRankSum=1.01;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,11:72:99:.:.:147,0,2072:.	8	0	7	4
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1765	1433.55	133	chr10	50104144	.	G	C	1433.55	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=6;MLEAF=0.176;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:57,11:72:99:.:.:147,0,2072:.	11	0	6	2
chr10	50189499	50189499	C	T	exonic	ASAH2	.	nonsynonymous SNV	ASAH2:NM_001143974:exon19:c.G2048A:p.R683H,ASAH2:NM_019893:exon20:c.G2153A:p.R718H	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.00403142193537	.	.	0.0004	0	0	0	0	0.0001	0.0012	0.0025	0.0002975	46	154602	rs1427606029	0.0003	0.0001	0.0002	0.0003	0.0018	0.0002	0.0002	0.0015	0.0013	0	0	0	0	0	0	3.833e-05	7e-05	0.0018	3.684e-05	8.395e-05	0	8.101e-05	0.0009	6.11e-06	2.29e-06	.	.	0	0	0	0	0	0	0	3.369e-05	0	0.0009	0.005	0.63226	D	0.009	0.67890	D	1.0	0.90584	D	0.997	0.92359	D	0.000000	0.84330	U	0.000000	0.999996	0.58761	D	.	.	.	0.86	0.46777	T	-3.45	0.68999	D	0.459	0.53269	-0.1020	0.80052	T	0.373	0.73144	T	9	0.7134393	0.73192	D	0.039698	0.58957	D	0.482	0.77206	0.743	0.87486	0.381916209588	0.37799	0.5955396225298861	0.59483	4.14057088863	0.99898	0.532687306404	0.43413	T	0.786584	0.94414	D	0.0952141	0.63771	D	-0.101008	0.63320	T	0.995632112026215	0.87784	D	0.964104	0.86689	D	0.5446292	0.69656	0.23271406	0.48440	0.5446292	0.69657	0.23271406	0.48439	-7.578	0.58157	D	.	.	0.137	0.46061	B	.;.;.;.;.	.;.;.;.;.	6.384396	0.95122	34	0.99942976389356286	0.99848	0.81135	0.40604	D	AEFI	0.410129	0.48113	N	0.595040141630803	0.72865	5.873352	0.497366578205415	0.67815	5.134824	0.913393405350978	0.26422	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.69	4.69	0.58546	3.172000	0.50532	3.842000	0.40046	0.429000	0.20894	1.000000	0.71638	1.000000	0.68203	0.864000	0.41028	0.0:1.0:0.0:0.0	15.090	0.71852	733	0.53988	Neutral/alkaline non-lysosomal ceramidase, C-terminal;Neutral/alkaline non-lysosomal ceramidase, C-terminal;Neutral/alkaline non-lysosomal ceramidase, C-terminal;.;Neutral/alkaline non-lysosomal ceramidase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	43.64	1	chr10	50189499	.	C	T	43.64	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.967;DP=52;ExcessHet=0;FS=0;InbreedingCoeff=-0.1187;MLEAC=1;MLEAF=0.028;MQ=27;MQRankSum=0;QD=14.55;ReadPosRankSum=-0.431;SOR=1.179	GT:AD:DP:GQ:PL	0/1:1,2:3:23:55,0,23	17	0	1	1
chr10	71751847	71751847	A	G	exonic	VSIR	.	nonsynonymous SNV	VSIR:NM_022153:exon6:c.T719C:p.I240T	.	412	1085	24	1	0	26	0.0118397	.	.	.	3409321	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.158	.	0.0002	0.00239617	0.0014	0	0.0014	0	0	0.0004	0.0039	0.0113	0.0014359	222	154602	rs151170391	0.0008	0.0009	0.0006	0.0010	0.0097	0.0008	0.0008	0.0091	0.0089	3.183e-05	0.0006	0.0034	0	0	0.0051	0.0002	0.0011	0.0097	0.0006	0.0006	0.0004	0.0007	0.0108	0.0005	0.0004	0.0084	0.0076	7.223e-05	0	0.0004	0.0023	0	0	0.0034	0.0002	0.0009	0.0108	0.07	0.35349	T	0.22	0.25907	T	0.808	0.45299	P	0.422	0.45143	B	0.000418	0.44736	D	0.257076	1	0.81001	D	.	.	.	0.66	0.52416	T	-2.2	0.49519	N	0.679	0.68603	-0.8592	0.51320	T	0.168	0.50697	T	10	0.010266542	0.00229	T	.	.	.	0.158	0.41098	.	.	0.396645960531	0.39282	0.11599831200167962	0.11527	0.531866609832	0.50666	.	.	.	0.092873	0.39095	T	-0.349859	0.04736	T	-0.267363	0.48085	T	0.031107798496653	0.02162	T	0.845215	0.52386	T	0.09921461	0.23412	0.11632411	0.28083	0.09921461	0.23412	0.11632411	0.28082	-5.64	0.43156	T	.	.	0.275	0.50862	B	.	.	3.914739	0.57112	23.8	0.99007520900926638	0.50293	0.96049	0.67302	D	AEFBCI	0.768422	0.70399	D	0.31749123875265	0.57046	3.870607	0.391570939865906	0.61043	4.299221	0.99999997111564	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.82	5.82	0.92740	5.685000	0.67865	11.198000	0.88920	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.955000	0.50612	1.0:0.0:0.0:0.0	16.173	0.81642	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	0.005539	0.000000	0.001359	0.005848	0.000000	0.000000	0.012195	0.015152	0.02632	2775.33	34	chr10	71751847	.	A	G	2775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.337;DP=830;ExcessHet=0;FS=1.178;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.33;ReadPosRankSum=1.17;SOR=0.795	GT:AD:DP:GQ:PL	0/1:71,110:181:99:2789,0,1564	18	0	1	0
chr10	71814971	71814971	A	C	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171936:exon4:c.A344C:p.D115A,CDH23:NM_001171935:exon5:c.A449C:p.D150A,CDH23:NM_001171934:exon22:c.A2933C:p.D978A,CDH23:NM_001171933:exon23:c.A3038C:p.D1013A,CDH23:NM_022124:exon68:c.A9758C:p.D3253A	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	1488	34	0	0	34	0.0112957	.	.	.	55244	Combined_PSAP_deficiency|Usher_syndrome_type_1D|Metachromatic_leukodystrophy|not_specified|Galactosylceramide_beta-galactosidase_deficiency|Atypical_Gaucher_Disease|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|not_provided	MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orphanet:139406|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphanet:512|MedGen:CN169374|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487|MedGen:CN239218|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.269	.	0.0027	0.0071885	0.0034	0.0158	0.0019	0	0	0.0008	0.0068	0.0117	0.0027943	432	154602	rs140463385	0.0015	0.0015	0.0012	0.0017	0.0141	0.0014	0.0014	0.0130	0.0126	0.0141	0.0017	0.0046	5.041e-05	0	0.0076	0.0003	0.0029	0.0102	0.0046	0.0046	0.0045	0.0046	0.0134	0.0043	0.0042	0.0125	0.0121	0.0134	0	0.0029	0.0035	0.0004	0	0.0068	0.0003	0.0038	0.0106	0.016	0.51853	D	0.007	0.69154	D	0.03	0.20002	B	0.022	0.19653	B	0.005483	0.32753	N	0.282649	0.813289	0.35703	D	0.805	0.20218	L	-1.27	0.79277	T	-1.14	0.29323	N	0.146	0.16308	-0.6071	0.64523	T	0.099	0.36907	T	10	0.008310497	0.00189	T	.	.	.	0.269	0.58381	.	.	0.882921449578	0.88177	0.40577768708480505	0.40493	0.179719734913	0.20215	0.346304118633	0.17376	T	0.024742	0.58764	T	-0.410882	0.01961	T	-0.351304	0.39055	T	0.0259886223339784	0.01405	T	0.823018	0.50622	T	0.13823578	0.31977	0.19175486	0.42652	0.16637209	0.36968	0.19290687	0.42829	-3.983	0.28678	T	.	.	0.098	0.18580	B	.;.;.;.	.;.;.;.	3.925396	0.57339	23.8	0.9891917616852629	0.48527	0.94266	0.60621	D	AEFDGBHCI	0.710844	0.66447	D	0.0308156560726651	0.43262	2.622502	0.194889263447921	0.49566	3.158281	0.99999999998484	0.74766	0.498214	0.20090	0	0.572659	0.20510	0	0.440796	0.06475	0	0.711	0.71501	0	.	.	5.28	4.15	0.47978	6.294000	0.72722	8.697000	0.78095	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.9239:0.0:0.0761:0.0	10.470	0.43817	782	0.47442	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.008577	0.010204	0.009511	0.014706	0.000000	0.000000	0.006135	0.015152	0.02632	1305.33	34	chr10	71814971	.	A	C	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.06;DP=700;ExcessHet=0;FS=5.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.13;ReadPosRankSum=0.098;SOR=1.549	GT:AD:DP:GQ:PL	0/1:29,43:72:99:1319,0,762	18	0	1	0
chr10	77819937	77819937	G	A	exonic	DLG5	.	nonsynonymous SNV	DLG5:NM_004747:exon16:c.C3484T:p.R1162W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.0525236917247	.	0.000399361	0.0001	0	0	0.0014	0	1.568e-05	0	8.249e-05	0.0001035	16	154602	rs200091104	3.986e-05	3.967e-05	4.511e-05	3.455e-05	0.0005	3.127e-05	2.86e-05	0.0003	0.0003	0	2.271e-05	0	0.0005	0	0	3.337e-05	0	0	7.881e-05	7.875e-05	6.425e-05	9.403e-05	0.0010	4.495e-05	3.511e-05	0.0004	0.0002	0	0.0022	0	0	0.0010	0	0	5.881e-05	0	0.0002	0.001	0.78490	D	0.016	0.83351	D	1.0	0.90584	D	0.991	0.79672	D	0.003182	0.35300	N	0.000000	0.604666	0.30911	N	2.125	0.59049	M	3.38	0.05847	T	-3.83	0.74504	D	0.745	0.74462	-1.1317	0.01703	T	0.040	0.17191	T	10	0.06039402	0.07412	T	0.052524	0.65105	D	0.211	0.50185	.	.	0.678051791944	0.67531	0.4794096181256339	0.47860	0.892515841933	0.70279	0.505038380623	0.39529	T	0.62056	0.88100	D	-0.140181	0.29863	T	-0.0196886	0.69049	D	0.431790052780611	0.30127	T	.	.	.	0.11986219	0.28215	0.13786541	0.32941	0.11986219	0.28215	0.13786541	0.32941	-5.123	0.38148	T	.	.	0.147	0.32445	B	.;.	.;.	3.937364	0.57590	23.9	0.99837272945628719	0.91800	0.91633	0.53936	D	AEFDBI	0.467066	0.51445	N	0.0753359716534703	0.45313	2.790006	-0.0338025239477586	0.38197	2.247129	0.999946873242603	0.47345	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.73	-0.102	0.12951	2.913000	0.48487	1.807000	0.28930	-0.154000	0.11915	1.000000	0.71638	0.964000	0.29435	0.719000	0.34739	0.0776:0.0:0.2493:0.6732	9.479	0.38053	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	.	.	.	.	.	.	.	.	0.05263	3047.81	35	chr10	77819937	.	G	A	3047.81	.	AC=2;AF=0.053;AN=38;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.1;SOR=0.963	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3075,294,0	18	1	0	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	0.05263	231.46	61	chr10	87232948	.	C	T	231.46	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.74;DP=821;ExcessHet=0.119;FS=58.684;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.053;MQ=32.07;MQRankSum=-2.052;QD=2.36;ReadPosRankSum=0;SOR=5.983	GT:AD:DP:GQ:PL	0/1:26,11:37:99:205,0,627	17	0	2	0
chr10	101010558	101010558	-	CGGCTG	exonic	PDZD7	.	nonframeshift insertion	PDZD7:NM_001195263:exon15:c.2330_2331insCAGCCG:p.S784_S785insRS	Usher syndrome, type IIC, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	7	1461	48	2	4	56	0.0174849	.	.	.	934914	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1491136099	6.957e-05	6.873e-05	6.044e-05	7.898e-05	0.0007	5.79e-05	5.37e-05	0.0005	0.0004	0.0007	0.0001	0	0.0003	5.998e-05	0.0002	3.754e-05	0.0001	6.459e-05	0.0004	0.0003	0.0003	0.0004	0.0007	0.0003	0.0002	0.0005	0.0005	0.0007	0	9.968e-05	0	0.0002	0.0003	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1885.48	66	chr10	101010558	.	A	ACGGCTG	1885.48	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.261;DP=1633;ExcessHet=0.3672;FS=0.921;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=-0.049;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,50:109:99:0|1:101010558_A_ACGGCTG:1899,0,2260:101010558	18	0	1	0
chr10	104002896	104002896	A	G	exonic	SLK	.	nonsynonymous SNV	SLK:NM_001304743:exon9:c.A1718G:p.D573G,SLK:NM_014720:exon9:c.A1718G:p.D573G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0150998391629	0.0005	.	0.0006	0	8.652e-05	0	0	0.0009	0	0.0005	0.0004851	75	154602	rs138561931	0.0004	0.0004	0.0004	0.0004	0.0026	0.0004	0.0003	0.0016	0.0013	2.987e-05	8.945e-05	0.0105	0	0	0.0026	0.0001	0.0010	0.0006	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0001	0.0001	2.412e-05	0	0.0003	0.0081	0	0	0	0.0002	0.0010	0.0002	0.145	0.25154	T	0.434	0.14200	T	0.0	0.02946	B	0.0	0.01387	B	0.457066	0.12436	N	0.783353	1	0.08975	N	0.55	0.14455	N	-0.45	0.69896	T	-0.17	0.09627	N	0.105	0.08925	-1.0181	0.24334	T	0.134	0.44739	T	10	0.003817588	0.00072	T	0.015	0.35634	T	0.072	0.21020	.	.	0.554558929491	0.55114	0.07498774446787938	0.07434	0.0526948635946	0.05807	0.243887513876	0.03151	T	0.006478	0.05912	T	-0.395844	0.02465	T	-0.478418	0.24613	T	0.00521661993563268	0.00056	T	0.659934	0.27348	T	0.07002385	0.15388	0.07592888	0.16767	0.07002385	0.15388	0.07592888	0.16766	-3.993	0.23699	T	.	.	0.080	0.07889	B	.;.	.;.	1.783382	0.22673	15.72	0.90110825285220153	0.19393	0.11505	0.16678	N	AEFBI	0.121648	0.23641	N	-0.901252689901276	0.10813	0.5185893	-0.85150158646679	0.13251	0.6864068	0.773060382927057	0.23705	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.03	0.779	0.17694	0.693000	0.25176	1.245000	0.25132	0.658000	0.54486	0.160000	0.23797	0.057000	0.21958	0.696000	0.34018	0.514:0.3593:0.1267:0.0	6.909	0.23507	66	0.97223	.;.	.	.	.	.	.	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	0.002016	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	769.33	38	chr10	104002896	.	A	G	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=762;ExcessHet=0;FS=0.888;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=1.82;SOR=0.879	GT:AD:DP:GQ:PL	0/1:50,29:79:99:783,0,1405	18	0	1	0
chr10	112410608	112410608	G	A	exonic	ACSL5	.	nonsynonymous SNV	ACSL5:NM_016234:exon9:c.G937A:p.V313I,ACSL5:NM_203379:exon9:c.G769A:p.V257I,ACSL5:NM_203380:exon9:c.G769A:p.V257I	.	418	1103	1	0	0	1	0.000453104	.	.	.	4109879	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00284787274729	.	.	0.0001	0	9.04e-05	0	0.0002	9.289e-05	0	0.0004	9.06e-05	14	154602	rs186230656	8.689e-05	8.687e-05	7.079e-05	0.0001	0.0003	7.421e-05	6.97e-05	0.0002	0.0002	5.975e-05	4.474e-05	3.827e-05	0	0.0002	0.0002	6.925e-05	0.0001	0.0003	5.912e-05	5.906e-05	5.142e-05	6.716e-05	8.821e-05	3.077e-05	2.21e-05	3.762e-05	2.575e-05	0	0	6.542e-05	0.0003	0	9.425e-05	0	8.821e-05	0	0	0.871	0.02600	T	0.745	0.05256	T	0.002	0.09854	B	0.002	0.11217	B	0.007173	0.31557	N	0.362185	0.93764	0.26885	N	0.585	0.15399	N	0.97	0.42502	T	-0.31	0.12099	N	0.087	0.16028	-1.0496	0.14509	T	0.043	0.18451	T	10	0.032535523	0.01408	T	0.002848	0.05986	T	0.036	0.09122	.	.	0.141422826196	0.13715	0.13778527283159708	0.13702	0.127649343088	0.14390	0.275376141071	0.06857	T	0.019578	0.15574	T	-0.507865	0.00516	T	-0.661312	0.08178	T	0.00664574187248945	0.00074	T	0.668933	0.27772	T	0.016169734	0.00180	0.024748981	0.00500	0.016169734	0.00180	0.024748981	0.00500	-1.879	0.03019	T	.	.	0.058	0.00979	B	.;.;.;.;.	.;.;.;.;.	-0.647217	0.01448	0.088	0.65643957175319922	0.07831	0.02018	0.06063	N	AEFBI	0.197156	0.32410	N	-1.03646008006026	0.07855	0.3663587	-0.942222928214016	0.11105	0.5636639	9.26630624063106E-5	0.04910	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.39	0.090	0.13773	0.194000	0.16941	-0.140000	0.11527	-0.554000	0.04884	0.003000	0.16062	0.000000	0.08366	0.503000	0.29084	0.4324:0.2358:0.3318:0.0	5.313	0.15149	829	0.39537	AMP-dependent synthetase/ligase;AMP-dependent synthetase/ligase;.;.;AMP-dependent synthetase/ligase	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	724.33	33	chr10	112410608	.	G	A	724.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.112;DP=706;ExcessHet=0;FS=1.974;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.482;SOR=0.475	GT:AD:DP:GQ:PL	0/1:40,32:72:99:738,0,1002	18	0	1	0
chr10	117341050	117341050	C	T	exonic	PDZD8	.	nonsynonymous SNV	PDZD8:NM_173791:exon2:c.G925A:p.E309K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.111422988151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.33585	T	0.284	0.21411	T	0.104	0.25941	B	0.024	0.20255	B	0.100580	0.19880	N	0.530412	0.918501	0.36608	D	1.04	0.26193	L	-1.98	0.85247	D	-0.39	0.13611	N	0.56	0.58458	-0.3391	0.73870	T	0.434	0.77478	T	10	0.2526929	0.42627	T	0.111423	0.78920	D	0.304	0.62510	0.426	0.47185	0.406687239423	0.40287	0.3484412965450981	0.34758	0.878990842918	0.69697	0.551437139511	0.46060	T	0.004486	0.03887	T	0.0534098	0.58780	T	-0.161057	0.58257	T	0.401935211681401	0.29015	T	0.631737	0.24648	T	0.12929	0.30201	0.1091909	0.26311	0.12929	0.30201	0.1091909	0.26311	-4.196	0.26694	T	.	.	0.138	0.30103	B	.	.	2.876239	0.38048	20.6	0.99707916019332055	0.81143	0.81768	0.41106	D	AEFBI	0.402723	0.47670	N	-0.00176634886459942	0.41776	2.504867	0.196643706894966	0.49661	3.166775	0.999999995606444	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.759000	0.47253	7.612000	0.61951	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	15.630	0.76655	723	0.55174	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	1457.48	127	chr10	117341050	.	C	T	1457.48	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-4.099;DP=1718;ExcessHet=4.0268;FS=278.265;InbreedingCoeff=-0.3117;MLEAC=4;MLEAF=0.118;MQ=60;MQRankSum=0;QD=1.56;ReadPosRankSum=1.31;SOR=9.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,31:109:31:.:.:31,0,1303:.	13	0	4	2
chr10	122678954	122678955	CC	-	exonic	LOC112577516	.	stopgain	LOC112577516:NM_001364461:exon4:c.320_321del:p.S107*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	65.51	.	chr10	122678953	.	TCC	T	65.51	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0;DP=18;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.967;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,2:7:69:69,0,197	7	0	1	11
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,37:117:99:0|1:124989533_G_A:1293,0,3027:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:99,26:125:99:571,0,3321	2	0	17	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3571	1989.41	182	chr10	124989579	.	G	C	1989.41	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-0.436;DP=2864;ExcessHet=6.9875;FS=14.618;InbreedingCoeff=-0.4859;MLEAC=12;MLEAF=0.429;MQ=53.46;MQRankSum=-7.748;QD=1.37;ReadPosRankSum=-3.038;SOR=0.509	GT:AD:DP:GQ:PL	0/1:107,21:128:99:225,0,2932	4	0	10	5
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V,CTBP2:NM_022802:exon9:c.C2882T:p.A961V,CTBP2:NM_001321013:exon10:c.C1262T:p.A421V,CTBP2:NM_001083914:exon11:c.C1262T:p.A421V,CTBP2:NM_001290214:exon11:c.C1262T:p.A421V,CTBP2:NM_001290215:exon11:c.C1262T:p.A421V,CTBP2:NM_001321012:exon11:c.C1262T:p.A421V,CTBP2:NM_001321014:exon11:c.C1262T:p.A421V,CTBP2:NM_001329:exon11:c.C1262T:p.A421V	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	720.63	43	chr10	124989594	.	G	A	720.63	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-2.445;DP=2053;ExcessHet=2.0135;FS=10.856;InbreedingCoeff=-0.2058;MLEAC=6;MLEAF=0.167;MQ=55.3;MQRankSum=-7.601;QD=0.79;ReadPosRankSum=-3.679;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,11:131:19:0|1:124989594_G_A:19,0,4940:124989594	12	0	6	1
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,22:155:99:0|1:124994489_T_G:523,0,5489:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,26:157:99:0|1:124994489_T_G:697,0,5417:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,28:158:99:0|1:124994489_T_G:756,0,5341:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,36:182:99:0|1:124994523_G_A:1040,0,5861:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:144,40:184:99:591,0,3923	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:144,46:190:99:613,0,3949	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,48:193:99:0|1:124994577_C_A:1579,0,5865:124994577	0	0	19	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S,CTBP2:NM_022802:exon4:c.G2072C:p.W691S,CTBP2:NM_001321013:exon5:c.G452C:p.W151S,CTBP2:NM_001083914:exon6:c.G452C:p.W151S,CTBP2:NM_001290214:exon6:c.G452C:p.W151S,CTBP2:NM_001290215:exon6:c.G452C:p.W151S,CTBP2:NM_001321012:exon6:c.G452C:p.W151S,CTBP2:NM_001321014:exon6:c.G452C:p.W151S,CTBP2:NM_001329:exon6:c.G452C:p.W151S	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1771.33	259	chr10	124998077	.	C	G	1771.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.647;DP=3498;ExcessHet=0.7564;FS=15.58;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.756;QD=2.49;ReadPosRankSum=1.42;SOR=2.216	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,21:174:99:0|1:124998077_C_G:421,0,6282:124998077	3	0	4	12
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R,CTBP2:NM_022802:exon4:c.C2069G:p.T690R,CTBP2:NM_001321013:exon5:c.C449G:p.T150R,CTBP2:NM_001083914:exon6:c.C449G:p.T150R,CTBP2:NM_001290214:exon6:c.C449G:p.T150R,CTBP2:NM_001290215:exon6:c.C449G:p.T150R,CTBP2:NM_001321012:exon6:c.C449G:p.T150R,CTBP2:NM_001321014:exon6:c.C449G:p.T150R,CTBP2:NM_001329:exon6:c.C449G:p.T150R	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1753.33	256	chr10	124998080	.	G	C	1753.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.292;DP=3518;ExcessHet=0.7564;FS=15.576;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.22;MQRankSum=-8.729;QD=2.45;ReadPosRankSum=1.75;SOR=2.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,21:173:99:0|1:124998077_C_G:424,0,6292:124998077	3	0	4	12
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G,CTBP2:NM_022802:exon4:c.A2062G:p.R688G,CTBP2:NM_001321013:exon5:c.A442G:p.R148G,CTBP2:NM_001083914:exon6:c.A442G:p.R148G,CTBP2:NM_001290214:exon6:c.A442G:p.R148G,CTBP2:NM_001290215:exon6:c.A442G:p.R148G,CTBP2:NM_001321012:exon6:c.A442G:p.R148G,CTBP2:NM_001321014:exon6:c.A442G:p.R148G,CTBP2:NM_001329:exon6:c.A442G:p.R148G	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	1799.33	255	chr10	124998087	.	T	C	1799.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.812;DP=3535;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.2;MQRankSum=-8.764;QD=2.51;ReadPosRankSum=3.16;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,21:164:99:0|1:124998077_C_G:451,0,5941:124998077	3	0	4	12
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W,CTBP2:NM_022802:exon4:c.C2059T:p.R687W,CTBP2:NM_001321013:exon5:c.C439T:p.R147W,CTBP2:NM_001083914:exon6:c.C439T:p.R147W,CTBP2:NM_001290214:exon6:c.C439T:p.R147W,CTBP2:NM_001290215:exon6:c.C439T:p.R147W,CTBP2:NM_001321012:exon6:c.C439T:p.R147W,CTBP2:NM_001321014:exon6:c.C439T:p.R147W,CTBP2:NM_001329:exon6:c.C439T:p.R147W	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1757.33	259	chr10	124998090	.	G	A	1757.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.557;DP=3577;ExcessHet=0.7564;FS=15.501;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.835;QD=2.41;ReadPosRankSum=3.64;SOR=2.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,21:166:99:0|1:124998077_C_G:445,0,6019:124998077	3	0	4	12
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G,CTBP2:NM_022802:exon4:c.T2038G:p.C680G,CTBP2:NM_001321013:exon5:c.T418G:p.C140G,CTBP2:NM_001083914:exon6:c.T418G:p.C140G,CTBP2:NM_001290214:exon6:c.T418G:p.C140G,CTBP2:NM_001290215:exon6:c.T418G:p.C140G,CTBP2:NM_001321012:exon6:c.T418G:p.C140G,CTBP2:NM_001321014:exon6:c.T418G:p.C140G,CTBP2:NM_001329:exon6:c.T418G:p.C140G	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1780.33	276	chr10	124998111	.	A	C	1780.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.781;DP=3589;ExcessHet=0.7564;FS=15.168;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.882;QD=2.46;ReadPosRankSum=4.79;SOR=2.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,21:168:99:0|1:124998111_A_C:439,0,6095:124998111	3	0	4	12
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T,CTBP2:NM_022802:exon4:c.T2036C:p.I679T,CTBP2:NM_001321013:exon5:c.T416C:p.I139T,CTBP2:NM_001083914:exon6:c.T416C:p.I139T,CTBP2:NM_001290214:exon6:c.T416C:p.I139T,CTBP2:NM_001290215:exon6:c.T416C:p.I139T,CTBP2:NM_001321012:exon6:c.T416C:p.I139T,CTBP2:NM_001321014:exon6:c.T416C:p.I139T,CTBP2:NM_001329:exon6:c.T416C:p.I139T	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2857	1759.33	274	chr10	124998113	.	A	G	1759.33	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.006;DP=3601;ExcessHet=0.7564;FS=15.272;InbreedingCoeff=-0.3571;MLEAC=7;MLEAF=0.5;MQ=58.23;MQRankSum=-8.929;QD=2.41;ReadPosRankSum=4.27;SOR=2.194	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,21:170:99:0|1:124998111_A_C:433,0,6179:124998111	3	0	4	12
chr10	127032219	127032219	C	T	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377560:exon10:c.C956T:p.S319L,DOCK1:NM_001377554:exon16:c.C1595T:p.S532L,DOCK1:NM_001377558:exon16:c.C1595T:p.S532L,DOCK1:NM_001377547:exon17:c.C1685T:p.S562L,DOCK1:NM_001377548:exon17:c.C1664T:p.S555L,DOCK1:NM_001377550:exon17:c.C1649T:p.S550L,DOCK1:NM_001290223:exon18:c.C1811T:p.S604L,DOCK1:NM_001377543:exon18:c.C1748T:p.S583L,DOCK1:NM_001377546:exon18:c.C1811T:p.S604L,DOCK1:NM_001377553:exon18:c.C1748T:p.S583L,DOCK1:NM_001377556:exon18:c.C1748T:p.S583L,DOCK1:NM_001377561:exon18:c.C1811T:p.S604L,DOCK1:NM_001380:exon18:c.C1748T:p.S583L,DOCK1:NM_001377544:exon19:c.C1784T:p.S595L	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0023524141887	7.8e-05	.	6.772e-05	0	0.0003	0	0	6.005e-05	0	0.0001	2.59e-05	4	154602	rs368083273	4.419e-05	4.788e-05	3.291e-05	5.564e-05	0.0005	3.542e-05	3.223e-05	0.0002	0.0002	6.018e-05	0.0001	0	0	0	0.0005	2.442e-05	3.337e-05	0.0003	4.596e-05	4.593e-05	7.707e-05	1.343e-05	0.0001	2.108e-05	1.526e-05	2.258e-05	1.124e-05	0	0	0.0001	0	0	0	0	5.879e-05	0.0005	0	0.059	0.37536	T	0.147	0.32783	T	0.006	0.13644	B	0.009	0.14300	B	0.000977	0.40836	D	0.213348	0.999849	0.49770	D	1.125	0.28843	L	3.69	0.04114	T	-1.54	0.37375	N	0.22	0.24634	-0.9563	0.39861	T	0.012	0.04700	T	10	0.0983769	0.17783	T	0.002352	0.04562	T	0.021	0.04004	.	.	0.643518659296	0.64057	0.27875438128904206	0.27788	0.214176988363	0.23954	0.587836384773	0.51188	T	0.098867	0.40311	T	-0.365876	0.03808	T	-0.508286	0.21492	T	0.0729968100786209	0.09065	T	0.952605	0.81930	D	0.08722753	0.20304	0.096429735	0.22912	0.08722753	0.20304	0.096429735	0.22912	-6.325	0.48920	T	.	.	0.057	0.00604	B	.;.	.;.	3.502878	0.49019	22.7	0.99774970745138225	0.86260	0.95434	0.64705	D	AEFDBI	0.341989	0.43829	N	-0.119105570741231	0.36561	2.114987	0.0363129790764668	0.41414	2.48774	0.999994681867171	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.85	3.85	0.43556	2.561000	0.45567	3.824000	0.39965	0.599000	0.40250	0.945000	0.32849	0.997000	0.33255	0.996000	0.76049	0.1701:0.8299:0.0:0.0	12.254	0.53931	947	0.11584	DHR-1 domain|DHR-1 domain;DHR-1 domain|DHR-1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1106.33	34	chr10	127032219	.	C	T	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.121;DP=798;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.75;SOR=0.733	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1120,0,1629	18	0	1	0
chr10	133240280	133240280	A	G	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon3:c.A751G:p.M251V	.	421	1040	61	0	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	0.0027	0.00559105	0.0065	0.0011	0.0042	0	0.0002	0.0053	0.0040	0.0235	0.0053298	824	154602	rs148086757	0.0049	0.0049	0.0043	0.0056	0.0441	0.0048	0.0048	0.0395	0.0378	0.0017	0.0062	0.0122	5.087e-05	0.0002	0.0441	0.0037	0.0069	0.0211	0.0049	0.0049	0.0046	0.0052	0.0150	0.0046	0.0045	0.0122	0.0112	0.0008	0.0650	0.0130	0.0161	0.0002	9.445e-05	0.0514	0.0043	0.0066	0.0150	0.006	0.61437	D	0.122	0.35710	T	0.0	0.02946	B	0.001	0.04355	B	0.176135	0.17233	U	0.369811	1	0.08975	N	0	0.06538	N	-2.59	0.89822	D	-0.17	0.09627	N	0.122	0.11340	-0.6701	0.61824	T	0.301	0.67232	T	10	0.0030415654	0.00050	T	.	.	.	0.141	0.37795	.	.	0.460085558651	0.45632	0.09206645746996407	0.09139	0.0854921300487	0.09661	0.353580713272	0.18448	T	0.001414	0.00874	T	-0.475129	0.00790	T	-0.43901	0.28920	T	0.00320643787163532	0.00034	T	0.207379	0.02472	T	0.23485649	0.46313	0.116778955	0.28192	0.23485649	0.46313	0.116778955	0.28191	-2.023	0.03269	T	.	.	0.070	0.03515	B	.	.	-0.060916	0.03882	0.846	0.44043438297786625	0.03358	0.00875	0.03461	N	AEFBI	0.026237	0.01933	N	-1.29613371137322	0.03722	0.1667575	-1.32367044325818	0.04126	0.1939608	0.315819230129744	0.19334	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	2.96	0.867	0.18222	-0.336000	0.07908	-0.342000	0.09808	-0.187000	0.09635	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4764:0.5236:0.0:0.0	7.658	0.27555	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.039859	0.071429	0.047684	0.055556	0.000000	0.017241	0.015337	0.015152	0.07895	2021.79	40	chr10	133240280	.	A	G	2021.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.584;DP=742;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.655;SOR=0.739	GT:AD:DP:GQ:PL	0/1:26,19:45:99:446,0,627	16	0	3	0
chr10	133312864	133312864	T	C	exonic	ZNF511	.	stoploss	ZNF511:NM_145806:exon6:c.T757C:p.X253R	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	1.648e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs367741436	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19238	N	.	.	.	.	.	.	.	.	.	0	0.00001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.215789	0.18571	T	-0.532256	0.19062	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.483565	0.19096	14.09	0.77978945852916082	0.12104	0.76018	0.37252	D	AEFBI	.	.	.	0.445605792428795	0.63954	4.639	0.11610572345112	0.45372	2.801547	0.0700980009188261	0.15514	0.322412	0.05557	0	0.31918	0.05746	0	0.343423	0.05949	0	0.322829	0.05601	0	0.280121	0.34055	4.42	1.76	0.23776	1.768000	0.38141	3.434000	0.38335	0.665000	0.62972	0.916000	0.31843	0.999000	0.35428	0.009000	0.08673	0.1985:0.0:0.2059:0.5956	4.484	0.11194	994	0.00715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	950.33	33	chr10	133312864	.	T	C	950.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.501;DP=708;ExcessHet=0;FS=0.81;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-0.549;SOR=0.582	GT:AD:DP:GQ:PL	0/1:48,40:88:99:964,0,1188	18	0	1	0
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	770.04	569	chr11	1017465	.	C	*	770.04	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-1.694;DP=12563;ExcessHet=2.0135;FS=1.992;InbreedingCoeff=-0.2282;MLEAC=3;MLEAF=0.088;MQ=55.61;MQRankSum=-9.847;QD=0.19;ReadPosRankSum=-1.563;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:522,65:611:99:0|1:1017465_C_*:1139,0,21697:1017465	14	0	3	2
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	13719.0	569	chr11	1017471	.	C	*	13719.0	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.309;DP=12666;ExcessHet=8.9063;FS=0.799;InbreedingCoeff=-0.4615;MLEAC=3;MLEAF=0.088;MQ=55.33;MQRankSum=-10.02;QD=1.77;ReadPosRankSum=2.61;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:521,65:616:99:0|1:1017465_C_*:1145,0,21690:1017465	14	0	3	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08824	383.39	586	chr11	1017475	.	T	*	383.39	.	AC=3;AF=0.088;AN=34;BaseQRankSum=6.05;DP=12510;ExcessHet=0.7564;FS=1.906;InbreedingCoeff=-0.1522;MLEAC=3;MLEAF=0.088;MQ=56.56;MQRankSum=-5.845;QD=0.16;ReadPosRankSum=-1.538;SOR=0.961	GT:AD:DP:GQ:PL	0/1:547,65:632:99:1053,0,22991	14	0	3	2
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	18376.8	571	chr11	1017498	.	C	*	18376.8	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.973;DP=12851;ExcessHet=31.086;FS=1.119;InbreedingCoeff=-0.8537;MLEAC=8;MLEAF=0.222;MQ=55.62;MQRankSum=-18.61;QD=1.81;ReadPosRankSum=5.2;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:433,142:643:99:0|1:1017461_G_T:4600,0,17610:1017461	9	0	9	1
chr11	1096374	1096374	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	573	938	11	0	0	11	0.00582936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486501087	0.0007	0.0036	0.0006	0.0008	0.0011	0.0007	0.0006	0.0008	0.0008	0.0001	0.0004	0.0005	0.0001	0.0024	0.0011	0.0007	0.0009	0.0010	0.0008	0.0014	0.0006	0.0009	0.0013	0.0006	0.0006	0.0009	0.0008	0.0002	0	0.0009	0.0003	0	0.0011	0	0.0011	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2005.33	521	chr11	1096374	.	C	T	2005.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.118;DP=5438;ExcessHet=0;FS=5.364;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.47;MQRankSum=-4.673;QD=6.64;ReadPosRankSum=-0.22;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,75:302:99:0|1:1096305_T_C:2019,0,8936:1096305	18	0	1	0
chr11	1097836	1097836	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	689	813	20	0	0	20	0.0121507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1381655864	0.0037	0.0059	0.0036	0.0039	0.0058	0.0036	0.0036	0.0037	0.0036	0.0011	0.0028	0.0031	0.0002	0.0123	0.0058	0.0038	0.0035	0.0039	0.0072	0.0056	0.0067	0.0078	0.0117	0.0064	0.0061	0.0102	0.0096	0.0017	0	0.0056	0	0.0010	0.0117	0	0.0117	0.0082	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	.	.	.	.	.	.	.	.	0.2308	583.2	75	chr11	1097836	.	A	C	583.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-2.723;DP=1901;ExcessHet=2.0135;FS=28.862;InbreedingCoeff=-0.31;MLEAC=8;MLEAF=0.308;MQ=35.49;MQRankSum=-1.272;QD=1.2;ReadPosRankSum=-1.828;SOR=2.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,16:78:99:.:.:191,0,1959:.	7	0	6	6
chr11	1098628	1098628	C	G	exonic	MUC2	.	unknown	UNKNOWN	.	567	933	22	0	0	22	0.0116525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356651919	0.0006	0.0088	0.0006	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0.0003	0.0003	0.0007	0.0002	0.0028	0	0.0006	0.0007	0.0002	0.0023	0.0060	0.0021	0.0026	0.0035	0.0021	0.0020	0.0030	0.0028	0.0006	0.0051	0.0018	0.0018	0.0003	0.0067	0.0088	0.0035	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	301.13	461	chr11	1098628	.	C	G	301.13	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-0.4;DP=4936;ExcessHet=0.3672;FS=5.27;InbreedingCoeff=-0.1157;MLEAC=3;MLEAF=0.088;MQ=49.5;MQRankSum=-3.884;QD=0.32;ReadPosRankSum=0.566;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:240,20:260:12:0|1:1098609_A_G:12,0,9073:1098609	14	0	3	2
chr11	1099046	1099046	G	0	exonic	MUC2	.	.	.	.	714	672	60	2	74	138	0.0454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	4081.72	134	chr11	1099046	.	G	*	4081.72	.	AC=2;AF=0.071;AN=28;BaseQRankSum=2.15;DP=1672;ExcessHet=2.9153;FS=8.54;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.071;MQ=39.03;MQRankSum=1.89;QD=7.07;ReadPosRankSum=0.028;SOR=1.24	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,36:90:99:0|1:1099046_G_*:682,0,1553:1099046	12	0	2	5
chr11	1248903	1248903	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C12023T:p.T4008M	.	632	886	3	1	0	5	0.00281373	.	.	.	2438393	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.00321089615043	.	.	0.0007	0.0027	0.0027	0	0	0.0007	0	0.0002	6.5e-06	1	154602	rs767648185	0.0005	0.0005	0.0005	0.0005	0.0015	0.0005	0.0005	0.0007	0.0007	6.27e-05	0.0010	0	0	5.982e-05	0.0015	0.0006	0.0004	0.0002	0.0004	0.0005	0.0004	0.0004	0.0014	0.0003	0.0003	0.0009	0.0008	0.0001	0.0088	0.0014	0	0	0	0	0.0004	0.0015	0	0.054	0.38633	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.08	0.20255	T	-0.93	0.24898	N	0.042	0.01498	-1.0524	0.13736	T	0.031	0.13461	T	9	0.010128796	0.00227	T	0.003211	0.07057	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.38704277308092166	0.38619	.	.	0.217673510313	0.01180	T	0.032386	0.22461	T	-0.663544	0.00060	T	-0.732388	0.04221	T	0.000755852060251669	0.00007	T	0.323368	0.06588	T	0.0146855945	0.00103	0.03652635	0.03116	0.0146855945	0.00103	0.03652635	0.03116	-8.746	0.66047	D	.	.	0.126	0.26576	B	.	.	0.898715	0.12724	9.246	0.74712460906929012	0.10798	0.00223	0.01258	N	AEFI	0.032051	0.03545	N	-1.37164144024145	0.02907	0.1290686	-1.51768257756784	0.02208	0.1012032	9.35793791966632E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.47	-1.12	0.09306	0.464000	0.21700	-6.072000	0.01505	-0.685000	0.04181	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4421:0.3355:0.2224	5.067	0.13923	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	0.002714	0.000000	0.006231	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	548.33	49	chr11	1248903	.	C	T	548.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.06;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=29.4;MQRankSum=-1.29;QD=15.23;ReadPosRankSum=0.867;SOR=0.938	GT:AD:DP:GQ:PL	0/1:15,21:36:99:562,0,375	18	0	1	0
chr11	1608248	1608248	G	C	exonic	KRTAP5-3	.	nonsynonymous SNV	KRTAP5-3:NM_001012708:exon1:c.C138G:p.C46W	.	427	1080	15	0	0	15	0.00689655	.	.	.	2344382	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.0071208537716	.	0.000199681	6.691e-05	0	8.639e-05	0	0.0006	3.041e-05	0	6.056e-05	5.82e-05	9	154602	rs531596632	6.573e-05	6.704e-05	6.403e-05	6.744e-05	0.0015	5.499e-05	5.111e-05	0.0007	0.0005	0	2.236e-05	0	0	0.0003	0.0015	3.687e-05	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0005	0.0004	2.447e-05	0	0.0009	0	0	0.0007	0	7.392e-05	0.0005	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.988788	0.40828	D	4.19	0.97772	H	4.37	0.02277	T	-4.12	0.75058	D	0.418	0.45803	-1.0772	0.07901	T	0.041	0.17827	T	9	0.12293714	0.23329	T	0.007121	0.18869	T	0.172	0.43662	0.474	0.55020	0.359763055319	0.35592	0.13920728362131274	0.13843	0.0228964277873	0.02319	.	.	.	0.129217	0.45737	T	-0.295165	0.09124	T	-0.402081	0.33143	T	0.894842207431793	0.54630	D	.	.	.	0.7917143	0.83381	0.78520703	0.87348	0.7917143	0.83382	0.78520703	0.87349	-11.853	0.84127	D	.	.	0.539	0.66295	A	.	.	2.695339	0.35192	19.83	0.98621085067295522	0.43771	0.81673	0.41030	D	AEFBI	0.325683	0.42719	N	0.524279190115123	0.68531	5.229853	0.345131660373371	0.58216	3.990751	0.00283388642364325	0.09739	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	2.81	2.81	0.31971	1.288000	0.32901	.	.	0.467000	0.21759	0.148000	0.23625	.	.	0.991000	0.66497	0.0:0.0:1.0:0.0	11.417	0.49200	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000529	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1168.33	53	chr11	1608248	.	G	C	1168.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.058;DP=1393;ExcessHet=0;FS=1.448;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.88;MQRankSum=-1.757;QD=9.35;ReadPosRankSum=-0.868;SOR=0.849	GT:AD:DP:GQ:PL	0/1:76,49:125:99:1182,0,1982	18	0	1	0
chr11	1754122	1754122	C	T	exonic	CTSD	.	nonsynonymous SNV	CTSD:NM_001909:exon7:c.G844A:p.G282R	Ceroid lipofuscinosis, neuronal, 10, Autosomal recessive	0	1426	88	8	0	104	0.0351827	.	.	.	134325	Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_provided|Neuronal_ceroid_lipofuscinosis_10|not_specified	MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0012414,MedGen:C1864669,OMIM:610127,Orphanet:228337|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.033	.	0.0045	0.0061901	0.0101	0.0008	0.0024	0.0003	0.0377	0.0087	0.0142	0.0224	0.0080594	1246	154602	rs147278302	0.0068	0.0068	0.0060	0.0076	0.0229	0.0067	0.0066	0.0211	0.0207	0.0006	0.0028	0.0135	0.0001	0.0320	0.0229	0.0048	0.0068	0.0219	0.0070	0.0070	0.0057	0.0084	0.0209	0.0066	0.0065	0.0176	0.0164	0.0008	0	0.0022	0.0136	0.0002	0.0360	0.0204	0.0066	0.0057	0.0209	0.232	0.18626	T	0.43	0.13713	T	0.011	0.15914	B	0.014	0.16862	B	0.432569	0.12729	N	0.767787	0.946974	0.26614	N	1.1	0.28011	L	0.42	0.56937	T	-0.76	0.25986	N	0.291	0.32921	-1.0254	0.21952	T	0.079	0.31405	T	10	0.0025467277	0.00039	T	.	.	.	0.033	0.08068	0.166	0.07071	0.511220899679	0.50763	0.4915701163374237	0.49078	0.63775699092	0.57515	0.327924966812	0.14620	T	0.242323	0.61104	T	-0.454566	0.01061	T	-0.409472	0.32285	T	0.0055011973655921	0.00060	T	0.933807	0.75196	D	0.17140512	0.37772	0.091029905	0.21379	0.17140512	0.37771	0.091029905	0.21379	-10.109	0.74562	D	0.14159384124689586	0.15943	0.272	0.55774	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.713385	0.21816	15.36	0.96623031341708565	0.30488	0.12184	0.17112	N	AEFDBCI	0.269038	0.38540	N	-0.777187391856778	0.13905	0.6885494	-0.763047824866904	0.15402	0.8098793	0.999408125914284	0.39524	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.25	2.13	0.26445	0.777000	0.26379	-0.030000	0.12807	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.770000	0.36519	0.0:0.754:0.149:0.097	8.659	0.33241	982	0.03397	.;.;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain;Peptidase family A1 domain|Peptidase family A1 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014691	0.005208	0.004076	0.026316	0.000000	0.017241	0.027607	0.018939	0.02632	1284.33	35	chr11	1754122	.	C	T	1284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.28;DP=795;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.47;ReadPosRankSum=2.24;SOR=0.66	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1298,0,1075	18	0	1	0
chr11	1956322	1956322	G	A	exonic	MRPL23	.	nonsynonymous SNV	MRPL23:NM_021134:exon5:c.G364A:p.A122T	.	428	679	340	75	0	490	0.265152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	.	0.1153	0.142772	0.1731	0.0428	0.2377	0.1502	0.1645	0.1581	0.1944	0.2832	0.166764	25782	154602	rs12812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	0.06086	T	0.592	0.08161	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.19781	P	0	0.06538	N	2.52	0.14160	T	-0.23	0.10656	N	0.018	0.00279	-0.9925	0.31959	T	0.000	0.00011	T	8	0.0044080913	0.00090	T	.	.	.	0.008	0.00669	.	.	.	.	0.3396820372802284	0.33881	0.158737186331	0.17918	0.323130786419	0.13895	T	3.62E-4	0.00107	T	-0.856647	0.00002	T	-0.85947	0.00848	T	0.000831064513770241	0.00008	T	0.40486	0.10377	T	0.021729477	0.00791	0.044156004	0.05659	0.021729477	0.00791	0.044156004	0.05658	-3.8	0.20805	T	.	.	0.067	0.02428	B	.;.	.;.	-0.790885	0.01125	0.052	0.76585184520990723	0.11527	0.04910	0.10661	N	AEFDBCI	0.224046	0.34832	N	-2.24886597635347	0.00060	0.002550947	-2.33368636121022	0.00056	0.002449201	0.999997702142817	0.74766	0.67177	0.52595	0	0.606735	0.50208	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	3.24	-6.48	0.01726	-1.253000	0.02987	-3.952000	0.02431	-1.233000	0.01324	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2037:0.1638:0.4707:0.1619	3.030	0.05732	964	0.07719	.;.	.	.	.	.	rs12812	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.184290	0.131313	0.144022	0.184211	0.150000	0.232759	0.243902	0.219697	0.2105	23862.2	50	chr11	1956322	.	G	A	23862.2	.	AC=8;AF=0.211;AN=38;BaseQRankSum=0.91;DP=1732;ExcessHet=0.0419;FS=0;InbreedingCoeff=0.3667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=19.21;ReadPosRankSum=1.84;SOR=0.676	GT:AD:DP:GQ:PL	0/1:112,127:239:99:3019,0,2634	13	2	4	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.1316	10144.4	168	chr11	4653052	.	A	G	10144.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.83;DP=2413;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.444;SOR=0.745	GT:AD:DP:GQ:PL	0/1:69,62:131:99:1602,0,1933	14	0	5	0
chr11	5132456	5132456	T	C	exonic	OR52A5	.	nonsynonymous SNV	OR52A5:NM_001005160:exon2:c.A187G:p.I63V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00140927227268	.	.	8.252e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs759759899	3.42e-06	3.42e-06	4.084e-06	2.75e-06	4.496e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.496e-06	0	0	6.574e-06	6.568e-06	0	1.346e-05	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.129	0.26852	T	0.061	0.45530	T	0.006	0.13644	B	0.023	0.19966	B	0.009136	0.30503	N	0.150048	1	0.08975	N	1.045	0.26769	L	7.21	0.00433	T	-0.66	0.19085	N	0.011	0.00110	-0.8952	0.48465	T	0.001	0.00318	T	10	0.04522434	0.03569	T	0.001409	0.02088	T	0.052	0.14661	0.559	0.67821	0.21279746466	0.20884	0.059204541532930414	0.05860	0.00769243951038	0.00681	0.202396050096	0.00529	T	0.003877	0.03282	T	-0.321909	0.06742	T	-0.68469	0.06702	T	0.0571766118894507	0.06717	T	0.594241	0.21993	T	0.049722224	0.08872	0.039622877	0.04098	0.049722224	0.08871	0.039622877	0.04098	-5.063	0.37516	T	.	.	0.083	0.09336	B	.;.	.;.	0.394711	0.07661	4.331	0.87058968326608577	0.16959	0.10521	0.16005	N	AEFBCI	0.092105	0.18650	N	-0.724733840939222	0.15328	0.7715163	-0.698533215589404	0.16997	0.9017927	0.997842150518811	0.36100	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	1.6	0.22686	-2.654000	0.00928	.	.	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.1326:0.0897:0.3231:0.4546	2.324	0.03960	861	0.33516	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1895.33	33	chr11	5132456	.	T	C	1895.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.566;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.534;SOR=0.686	GT:AD:DP:GQ:PL	0/1:59,77:136:99:1909,0,1594	18	0	1	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	.	.	.	.	.	.	.	.	0.3214	1427.75	152	chr11	5351792	.	C	G	1427.75	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-4.584;DP=3027;ExcessHet=5.3738;FS=255.187;InbreedingCoeff=-0.44;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=-0.039;SOR=11.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,22:147:40:.:.:40,0,4268:.	5	0	9	5
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	690.21	161	chr11	6200107	.	C	G	690.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-6.451;DP=2311;ExcessHet=4.0268;FS=110.401;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.63;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,19:161:51:0|1:6200107_C_G:51,0,5520:6200107	11	0	8	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	1154.82	35	chr11	6200109	.	C	G	1154.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-6.448;DP=2227;ExcessHet=5.3738;FS=120.687;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.45;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,19:161:51:0|1:6200107_C_G:51,0,5520:6200107	10	0	9	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	563.21	93	chr11	6564079	.	G	C	563.21	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-2.147;DP=1498;ExcessHet=2.0135;FS=208.676;InbreedingCoeff=-0.265;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.38;SOR=11.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,25:82:35:.:.:35,0,751:.	9	0	6	4
chr11	7062467	7062467	C	G	exonic	NLRP14	.	nonsynonymous SNV	NLRP14:NM_176822:exon10:c.C2939G:p.A980G	.	416	1105	1	0	0	1	0.000452284	.	.	.	3358980	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.114	0.00881367210708	.	0.000199681	0.0001	0	8.711e-05	0	0	0.0002	0	0	0.00011	17	154602	rs188314879	9.993e-05	9.987e-05	9.535e-05	0.0001	0.0005	8.651e-05	8.139e-05	0.0001	9.607e-05	0	0	0	0	0	0.0005	0.0001	0.0001	3.478e-05	9.207e-05	9.189e-05	7.721e-05	0.0001	0.0002	5.532e-05	4.368e-05	9.056e-05	7.018e-05	2.411e-05	0	6.556e-05	0	0	0	0	0.0002	0	0.0002	0.589	0.05826	T	0.148	0.32675	T	0.849	0.46879	P	0.46	0.46423	P	0.000834	0.41547	D	0.000000	0.874484	0.35627	D	0.965	0.23975	L	1.14	0.38397	T	-1.7	0.40468	N	0.374	0.41557	-1.0628	0.11069	T	0.067	0.27606	T	10	0.10906649	0.20331	T	0.008814	0.23245	T	0.114	0.32008	.	.	0.391313282164	0.38746	0.1417588497418468	0.14098	0.149086381227	0.16810	0.332425475121	0.15301	T	0.014591	0.12395	T	-0.317166	0.07132	T	-0.424063	0.30610	T	0.0660770578131878	0.08089	T	0.626737	0.24270	T	0.13448381	0.31243	0.14333488	0.34069	0.13448381	0.31243	0.14333488	0.34068	-5.399	0.40910	T	.	.	0.155	0.34272	B	.	.	3.078290	0.41403	21.3	0.98318212690532725	0.40212	0.47979	0.28104	N	AEFCI	0.104322	0.20876	N	0.0296451913063056	0.43206	2.618177	0.0751806091687704	0.43305	2.634978	0.00979519753529985	0.11915	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	4.84	4.84	0.62125	1.758000	0.38039	7.175000	0.57735	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.178000	0.21234	0.0:1.0:0.0:0.0	13.625	0.61629	686	0.59327	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1043.33	34	chr11	7062467	.	C	G	1043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.1;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.58;SOR=0.728	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1057,0,1064	18	0	1	0
chr11	8932248	8932248	G	T	exonic	C11orf16	.	nonsynonymous SNV	C11orf16:NM_020643:exon2:c.C61A:p.L21M	.	433	1075	14	0	0	14	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	.	0.0038	0.00339457	0.0065	0.0013	0.0030	0.0003	0.0155	0.0082	0.0069	0.0058	0.0045019	696	154602	rs147009902	0.0050	0.0050	0.0050	0.0051	0.0055	0.0049	0.0049	0.0054	0.0053	0.0010	0.0028	0.0012	0.0002	0.0080	0.0037	0.0055	0.0038	0.0044	0.0038	0.0038	0.0037	0.0039	0.0055	0.0035	0.0034	0.0051	0.0049	0.0010	0.0077	0.0028	0.0009	0	0.0076	0.0068	0.0055	0.0047	0.0023	0.033	0.45039	D	0.089	0.44302	T	0.996	0.77913	D	0.964	0.73562	D	0.078308	0.21051	N	0.347140	0.998944	0.21775	N	2.39	0.68882	M	1.32	0.35405	T	-0.84	0.23808	N	0.251	0.34981	-0.9698	0.37242	T	0.132	0.44347	T	10	0.0074902773	0.00170	T	.	.	.	0.106	0.30130	.	.	0.190952846119	0.18690	0.27289446184904287	0.27202	0.11670823845	0.13163	.	.	.	0.011669	0.10375	T	-0.456547	0.01032	T	-0.420613	0.31006	T	0.0143281226341598	0.00286	T	0.59564	0.22108	T	0.11766364	0.27736	0.09523284	0.22578	0.11766364	0.27736	0.09523284	0.22577	-5.729	0.43950	T	.	.	0.123	0.25689	B	.;.	.;.	2.465993	0.31778	18.84	0.99488971633795142	0.67347	0.51971	0.29021	D	AEFGBI	0.121485	0.23617	N	0.28911416094338	0.55596	3.723652	0.217155897170878	0.50797	3.268212	0.999957727734356	0.48110	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.19	4.26	0.49832	0.326000	0.19391	2.067000	0.30424	0.676000	0.76740	0.843000	0.30332	0.998000	0.33993	0.161000	0.20682	0.0:0.1744:0.8256:0.0	12.576	0.55717	434	0.80536	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004053	0.000000	0.005450	0.005848	0.050000	0.000000	0.006211	0.000000	0.02632	2055.33	40	chr11	8932248	.	G	T	2055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.598;DP=873;ExcessHet=0;FS=1.191;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=0.968;SOR=0.792	GT:AD:DP:GQ:PL	0/1:85,83:168:99:2069,0,2046	18	0	1	0
chr11	12249217	12249217	C	T	exonic	MICAL2	.	nonsynonymous SNV	MICAL2:NM_001282666:exon16:c.C2248T:p.P750S,MICAL2:NM_001282665:exon17:c.C2248T:p.P750S,MICAL2:NM_001346292:exon21:c.C2818T:p.P940S,MICAL2:NM_001282663:exon22:c.C2818T:p.P940S,MICAL2:NM_014632:exon22:c.C2818T:p.P940S	.	433	1083	6	0	0	6	0.00276243	.	.	.	3289372	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00575812016563	.	0.000199681	0.0001	0	8.72e-05	0	0	3.031e-05	0.0011	0.0007	0.00011	17	154602	rs542038120	5.554e-05	5.61e-05	3.003e-05	8.13e-05	0.0007	4.554e-05	4.165e-05	0.0006	0.0005	0	0.0002	0	0	0	0.0002	7.214e-06	6.637e-05	0.0007	4.596e-05	4.593e-05	2.569e-05	6.714e-05	0.0006	2.108e-05	1.526e-05	0.0002	8.989e-05	0	0	0	0	0	0	0	4.41e-05	0.0005	0.0006	0.85	0.02739	T	0.631	0.25438	T	0.0	0.02946	B	0.001	0.04355	B	0.001470	0.00788	N	3.997070	1	0.08975	N	0.345	0.11182	N	0.28	0.59037	T	-0.19	0.19933	N	0.221	0.31925	-0.9943	0.31485	T	0.083	0.32642	T	10	0.011966616	0.00259	T	0.005758	0.14952	T	0.082	0.23913	0.146	0.04941	0.368183359018	0.36430	0.35957286437489294	0.35871	0.107422005202	0.12120	0.252389550209	0.04023	T	0.002637	0.02024	T	-0.429952	0.01483	T	-0.525371	0.19752	T	0.0295546285197988	0.01921	T	0.578742	0.28770	T	0.04865516	0.08516	0.036550716	0.03125	0.04865516	0.08515	0.036550716	0.03125	-2.924	0.09386	T	.	.	0.075	0.10304	B	.;.;.	.;.;.	1.265843	0.16643	12.67	0.99495210195415384	0.67687	0.01861	0.05745	N	AEFDBI	0.037105	0.05050	N	-1.18309309260597	0.05256	0.2391493	-1.14948584043174	0.06777	0.3273758	0.998812127571729	0.37733	0.645754	0.44609	0	0.610034	0.51514	0	0.491513	0.07944	0	0.723	0.93126	0	.	.	4.77	-1.63	0.07900	-0.154000	0.10116	-2.001000	0.04364	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.987000	0.62547	0.0:0.3582:0.1637:0.4781	4.76	0.12476	883	0.28872	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1433.33	34	chr11	12249217	.	C	T	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.983;DP=778;ExcessHet=0;FS=0.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=1.06;SOR=0.71	GT:AD:DP:GQ:PL	0/1:78,64:142:99:1447,0,1914	18	0	1	0
chr11	28082873	28082873	C	G	exonic	KIF18A	.	nonsynonymous SNV	KIF18A:NM_031217:exon9:c.G1245C:p.Q415H	.	628	893	1	0	0	1	0.000559597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.0397663914956	.	0.000199681	8.536e-06	0	0	0	0	0	0	6.19e-05	1.29e-05	2	154602	rs142068059	3.476e-06	3.421e-06	2.769e-06	4.189e-06	2.404e-05	1.02e-06	7.4e-07	3.99e-06	1.49e-06	0	0	0	0	0	0	2.737e-06	0	2.404e-05	1.316e-05	1.313e-05	1.287e-05	1.347e-05	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	0.005	0.63226	D	0.018	0.59732	D	0.836	0.46303	P	0.572	0.49931	P	0.002256	0.36929	N	0.323825	0.716956	0.29959	N	2.28	0.64929	M	-0.81	0.73949	T	-1.96	0.45404	N	0.191	0.20925	-0.5990	0.64858	T	0.295	0.66678	T	10	0.17896166	0.33006	T	0.039766	0.58997	D	0.188	0.46444	0.215	0.13498	0.798520509768	0.79664	0.3569681145192616	0.35610	0.117908866914	0.13276	0.305577635765	0.11238	T	0.024009	0.18222	T	-0.161481	0.26531	T	-0.366789	0.37263	T	0.707383632659912	0.41072	D	0.49835	0.15517	T	0.12538162	0.29394	0.10173625	0.24364	0.12538162	0.29394	0.10173625	0.24363	-4.128	0.25701	T	.	.	0.151	0.33389	B	.	.	2.390065	0.30693	18.51	0.99630125111544843	0.75959	0.85515	0.44655	D	AEFBI	0.240014	0.36187	N	-0.0491689494215028	0.39639	2.340873	-0.0874943816991769	0.35907	2.082967	0.0838045246520611	0.15938	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.43	0.226	0.14625	-0.164000	0.09972	-1.124000	0.06259	0.599000	0.40250	0.607000	0.27805	0.000000	0.08366	0.973000	0.55318	0.115:0.5687:0.0:0.3163	6.163	0.19590	560	0.71333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	864.33	33	chr11	28082873	.	C	G	864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.364;DP=709;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.91;ReadPosRankSum=2.09;SOR=0.667	GT:AD:DP:GQ:PL	0/1:54,43:97:99:878,0,1177	18	0	1	0
chr11	28097762	28097762	T	G	exonic	KIF18A	.	nonsynonymous SNV	KIF18A:NM_031217:exon2:c.A186C:p.Q62H	.	433	1085	3	1	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	.	0.0089	0.00359425	0.0088	0.0016	0.0023	0.0001	0.0135	0.0137	0.0056	0.0005	0.0086804	1342	154602	rs144868444	0.0089	0.0089	0.0090	0.0088	0.0105	0.0088	0.0087	0.0103	0.0102	0.0013	0.0028	0.0011	0	0.0134	0.0036	0.0105	0.0065	0.0005	0.0070	0.0070	0.0072	0.0068	0.0109	0.0067	0.0065	0.0103	0.0100	0.0013	0.0603	0.0036	0.0020	0	0.0132	0	0.0109	0.0047	0.0010	0.162	0.23541	T	0.563	0.09022	T	0.001	0.07471	B	0.012	0.16012	B	0.000532	0.43581	D	0.224740	0.905555	0.27614	N	-0.13	0.04535	N	-0.91	0.75001	T	0.16	0.05217	N	0.201	0.22228	-1.0450	0.15825	T	0.088	0.33968	T	10	0.0032369792	0.00055	T	.	.	.	0.094	0.27141	0.432	0.48171	0.675292279496	0.67254	0.512515129891289	0.51173	0.257212335181	0.28292	0.203831732273	0.00576	T	0.128632	0.45641	T	-0.557232	0.00264	T	-0.56217	0.16173	T	0.010535688518482	0.00146	T	0.360464	0.08297	T	0.033936087	0.03710	0.049830355	0.07696	0.033936087	0.03710	0.049830355	0.07695	-4.178	0.26432	T	.	.	0.088	0.11654	B	.	.	2.263031	0.28918	17.95	0.9563157444125342	0.27416	0.85750	0.44918	D	AEGBI	0.279126	0.39325	N	-0.550518903999067	0.20467	1.079162	-0.383804192565878	0.25480	1.401466	0.999079218962132	0.38370	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	3.16	0.35406	0.521000	0.22601	0.619000	0.20111	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.904000	0.43992	0.3473:0.0844:0.1162:0.4521	1.892	0.03052	561	0.71236	Kinesin motor domain|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	0.002518	0.005051	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1756.33	41	chr11	28097762	.	T	G	1756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=807;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.651;SOR=0.665	GT:AD:DP:GQ:PL	0/1:98,73:171:99:1770,0,2491	18	0	1	0
chr11	31539740	31539740	T	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_001288725:exon3:c.T338C:p.L113S,ELP4:NM_001288726:exon3:c.T338C:p.L113S,ELP4:NM_019040:exon3:c.T338C:p.L113S	.	431	1063	27	1	0	29	0.0134571	.	.	.	701730	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.327	.	0.0029	0.00399361	0.0050	0.0005	0.0020	0	0.0017	0.0046	0.0033	0.0153	0.0044825	693	154602	rs201333718	0.0047	0.0047	0.0043	0.0051	0.0146	0.0046	0.0046	0.0139	0.0136	0.0007	0.0022	0.0046	0	0.0021	0.0078	0.0044	0.0057	0.0146	0.0035	0.0035	0.0035	0.0036	0.0143	0.0033	0.0032	0.0116	0.0106	0.0006	0	0.0022	0.0072	0	0.0020	0	0.0052	0.0038	0.0143	0.001	0.78490	D	0.002	0.92824	D	0.793	0.49745	P	0.48	0.47081	P	0.000219	0.47681	N	0.141600	0.999374	0.46831	D	2.33	0.66821	M	0.69	0.51714	T	-4.05	0.74504	D	0.717	0.71942	-0.6524	0.62609	T	0.226	0.59083	T	10	0.011266887	0.00247	T	.	.	.	0.327	0.64926	.	.	0.757842185581	0.75564	0.893030983477981	0.89273	0.150935704758	0.17036	0.357488334179	0.19020	T	0.124407	0.44941	T	-0.0941433	0.37391	T	0.104967	0.77237	D	0.0459769926850734	0.04779	T	0.759324	0.38363	T	0.54611576	0.69739	0.5094322	0.71650	0.5717868	0.71160	0.6096003	0.77294	-11.428	0.81953	D	.	.	0.339	0.64320	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	3.879300	0.56368	23.7	0.99659333267524086	0.77820	0.90763	0.52215	D	AEFDBI	0.493549	0.52972	N	0.38074612581872	0.60379	4.226205	0.371876799930466	0.59835	4.165029	0.177405396842463	0.17823	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.32	4.19	0.48645	4.345000	0.59140	3.471000	0.38581	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0754:0.0:0.9246	10.875	0.46112	412	0.82007	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005539	0.000000	0.004076	0.000000	0.000000	0.000000	0.009146	0.015152	0.02632	487.33	33	chr11	31539740	.	T	C	487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.988;DP=679;ExcessHet=0;FS=2.296;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=-0.813;SOR=0.368	GT:AD:DP:GQ:PL	0/1:34,26:60:99:501,0,914	18	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	.	.	.	.	.	.	.	.	0.2778	1687.47	64	chr11	33085953	.	G	A	1687.47	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-1.54;DP=1238;ExcessHet=2.1469;FS=207.137;InbreedingCoeff=-0.4074;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=1.53;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,13:72:99:0|1:33085952_T_C:115,0,1672:33085952	4	0	5	10
chr11	36592939	36592939	C	G	exonic	RAG2	.	nonsynonymous SNV	RAG2:NM_000536:exon2:c.G1230C:p.E410D,RAG2:NM_001243785:exon3:c.G1230C:p.E410D,RAG2:NM_001243786:exon3:c.G1230C:p.E410D	Combined cellular and humoral immune defects with granulomas, Autosomal recessive;Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, B cell-negative, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.184111845529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.989	0.62824	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.997921	0.44325	D	3.045	0.86684	M	-4.39	0.97394	D	-1.34	0.33401	N	0.61	0.62696	0.981	0.96875	D	0.932	0.97744	D	10	0.74751085	0.75395	D	0.184112	0.85729	D	0.724	0.90280	0.655	0.79276	0.949606292796	0.94907	0.5783541702396763	0.57764	0.416349650705	0.42283	0.691780388355	0.65962	T	0.535211	0.83987	D	0.262356	0.79746	D	0.13908	0.79483	D	0.982266187667847	0.74389	D	0.935806	0.75965	D	0.4970505	0.66921	0.42633614	0.66414	0.4970505	0.66922	0.42633614	0.66414	-3.527	0.16812	T	0.4996836790850691	0.57511	0.344	0.59611	A	.;.	.;.	2.759110	0.36189	20.2	0.99754016305850435	0.84460	0.84979	0.44077	D	AEFBI	0.598256	0.59172	D	0.347464662238875	0.58605	4.033851	0.215856993075376	0.50725	3.261712	0.99959847292894	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.408882	0.06424	0	0.530356	0.10902	0	.	.	5.23	-0.634	0.10937	0.385000	0.20413	-0.476000	0.08948	0.599000	0.40250	0.997000	0.40164	0.036000	0.21445	1.000000	0.97212	0.0:0.5159:0.0:0.4841	10.518	0.44088	374	0.84073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1538	162.23	33	chr11	36592939	.	C	G	162.23	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-4.758;DP=2093;ExcessHet=0.7564;FS=197.593;InbreedingCoeff=-0.2301;MLEAC=5;MLEAF=0.192;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.28;SOR=10.175	GT:AD:DP:GQ:PL	0/1:84,14:112:28:28,0,2099	9	0	4	6
chr11	47290759	47290759	G	C	exonic	MADD	.	nonsynonymous SNV	MADD:NM_001376662:exon16:c.G2674C:p.G892R,MADD:NM_001376663:exon17:c.G2578C:p.G860R,MADD:NM_001376583:exon18:c.G3142C:p.G1048R,MADD:NM_001376611:exon18:c.G3142C:p.G1048R,MADD:NM_001376613:exon18:c.G3142C:p.G1048R,MADD:NM_001376614:exon18:c.G3142C:p.G1048R,MADD:NM_001376620:exon18:c.G3040C:p.G1014R,MADD:NM_001376644:exon18:c.G2911C:p.G971R,MADD:NM_001376647:exon18:c.G2911C:p.G971R,MADD:NM_001376650:exon18:c.G3013C:p.G1005R,MADD:NM_001376657:exon18:c.G3040C:p.G1014R,MADD:NM_001376658:exon18:c.G3013C:p.G1005R,MADD:NM_001376660:exon18:c.G2911C:p.G971R,MADD:NM_001135943:exon19:c.G3115C:p.G1039R,MADD:NM_001135944:exon19:c.G3115C:p.G1039R,MADD:NM_001376575:exon19:c.G3244C:p.G1082R,MADD:NM_001376576:exon19:c.G3244C:p.G1082R,MADD:NM_001376577:exon19:c.G3244C:p.G1082R,MADD:NM_001376578:exon19:c.G3217C:p.G1073R,MADD:NM_001376579:exon19:c.G3244C:p.G1082R,MADD:NM_001376580:exon19:c.G3244C:p.G1082R,MADD:NM_001376584:exon19:c.G3244C:p.G1082R,MADD:NM_001376585:exon19:c.G3115C:p.G1039R,MADD:NM_001376593:exon19:c.G3244C:p.G1082R,MADD:NM_001376594:exon19:c.G3244C:p.G1082R,MADD:NM_001376595:exon19:c.G3115C:p.G1039R,MADD:NM_001376596:exon19:c.G3322C:p.G1108R,MADD:NM_001376597:exon19:c.G3115C:p.G1039R,MADD:NM_001376598:exon19:c.G3115C:p.G1039R,MADD:NM_001376603:exon19:c.G3115C:p.G1039R,MADD:NM_001376604:exon19:c.G3115C:p.G1039R,MADD:NM_001376608:exon19:c.G3244C:p.G1082R,MADD:NM_001376610:exon19:c.G3244C:p.G1082R,MADD:NM_001376612:exon19:c.G3244C:p.G1082R,MADD:NM_001376615:exon19:c.G3115C:p.G1039R,MADD:NM_001376616:exon19:c.G3115C:p.G1039R,MADD:NM_001376618:exon19:c.G3115C:p.G1039R,MADD:NM_001376619:exon19:c.G3115C:p.G1039R,MADD:NM_001376621:exon19:c.G3115C:p.G1039R,MADD:NM_001376622:exon19:c.G3244C:p.G1082R,MADD:NM_001376623:exon19:c.G3244C:p.G1082R,MADD:NM_001376626:exon19:c.G3100C:p.G1034R,MADD:NM_001376627:exon19:c.G2971C:p.G991R,MADD:NM_001376631:exon19:c.G3217C:p.G1073R,MADD:NM_001376635:exon19:c.G2971C:p.G991R,MADD:NM_001376640:exon19:c.G3115C:p.G1039R,MADD:NM_001376641:exon19:c.G3115C:p.G1039R,MADD:NM_001376645:exon19:c.G3115C:p.G1039R,MADD:NM_001376646:exon19:c.G2971C:p.G991R,MADD:NM_001376648:exon19:c.G3100C:p.G1034R,MADD:NM_001376649:exon19:c.G3088C:p.G1030R,MADD:NM_001376651:exon19:c.G3115C:p.G1039R,MADD:NM_001376652:exon19:c.G3115C:p.G1039R,MADD:NM_001376653:exon19:c.G3115C:p.G1039R,MADD:NM_001376654:exon19:c.G2971C:p.G991R,MADD:NM_001376656:exon19:c.G3115C:p.G1039R,MADD:NM_001376659:exon19:c.G2971C:p.G991R,MADD:NM_001376661:exon19:c.G3115C:p.G1039R,MADD:NM_130470:exon19:c.G3244C:p.G1082R,MADD:NM_130472:exon19:c.G3115C:p.G1039R,MADD:NM_130474:exon19:c.G3115C:p.G1039R,MADD:NM_130476:exon19:c.G3244C:p.G1082R,MADD:NM_001376571:exon20:c.G3304C:p.G1102R,MADD:NM_001376572:exon20:c.G3304C:p.G1102R,MADD:NM_001376573:exon20:c.G3304C:p.G1102R,MADD:NM_001376574:exon20:c.G3304C:p.G1102R,MADD:NM_001376581:exon20:c.G3175C:p.G1059R,MADD:NM_001376582:exon20:c.G3175C:p.G1059R,MADD:NM_001376586:exon20:c.G3175C:p.G1059R,MADD:NM_001376599:exon20:c.G3304C:p.G1102R,MADD:NM_001376600:exon20:c.G3304C:p.G1102R,MADD:NM_001376601:exon20:c.G3304C:p.G1102R,MADD:NM_001376602:exon20:c.G3151C:p.G1051R,MADD:NM_001376605:exon20:c.G3304C:p.G1102R,MADD:NM_001376606:exon20:c.G3304C:p.G1102R,MADD:NM_001376607:exon20:c.G3175C:p.G1059R,MADD:NM_001376609:exon20:c.G3304C:p.G1102R,MADD:NM_001376617:exon20:c.G3175C:p.G1059R,MADD:NM_001376624:exon20:c.G3175C:p.G1059R,MADD:NM_001376625:exon20:c.G3175C:p.G1059R,MADD:NM_001376628:exon20:c.G3175C:p.G1059R,MADD:NM_001376629:exon20:c.G3175C:p.G1059R,MADD:NM_001376630:exon20:c.G3175C:p.G1059R,MADD:NM_001376632:exon20:c.G3148C:p.G1050R,MADD:NM_001376633:exon20:c.G3304C:p.G1102R,MADD:NM_001376634:exon20:c.G3304C:p.G1102R,MADD:NM_001376636:exon20:c.G3175C:p.G1059R,MADD:NM_001376637:exon20:c.G3175C:p.G1059R,MADD:NM_001376638:exon20:c.G3175C:p.G1059R,MADD:NM_001376639:exon20:c.G3175C:p.G1059R,MADD:NM_001376642:exon20:c.G3175C:p.G1059R,MADD:NM_001376643:exon20:c.G3175C:p.G1059R,MADD:NM_001376655:exon20:c.G3115C:p.G1039R,MADD:NM_003682:exon20:c.G3304C:p.G1102R,MADD:NM_130471:exon20:c.G3175C:p.G1059R,MADD:NM_130473:exon20:c.G3304C:p.G1102R,MADD:NM_130475:exon20:c.G3304C:p.G1102R	.	413	1107	2	0	0	2	0.000902527	.	.	.	2365785	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.0102770697233	0.0002	.	0.0004	9.645e-05	0.0003	0	0	0.0006	0	0.0001	0.0004398	68	154602	rs146167487	0.0007	0.0007	0.0007	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	5.974e-05	0.0003	0	0	0.0001	0.0003	0.0009	0.0006	0.0004	0.0006	0.0006	0.0007	0.0005	0.0010	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0007	0	0	0	0	0.0010	0.0005	0.0006	0.019	0.65419	D	0.09	0.43159	T	0.997	0.70673	D	0.951	0.68939	D	0.005532	0.32720	N	0.322809	0.999881	0.52396	D	1.355	0.33814	L	3.39	0.07125	T	-3.4	0.67014	D	0.479	0.51405	-1.1705	0.00530	T	0.038	0.16548	T	10	0.08526948	0.14379	T	0.010277	0.26632	T	0.122	0.33800	.	.	0.298056030225	0.29408	0.3821748914215902	0.38132	0.349277998776	0.36782	0.503858923912	0.39365	T	0.062031	0.72288	T	-0.392087	0.02608	T	-0.429897	0.29947	T	0.0629482537156686	0.07625	T	0.981369	0.93662	D	0.13773465	0.31880	0.24098791	0.49485	0.1455753	0.33363	0.22639284	0.47615	-4.306	0.28330	T	.	.	0.284	0.54947	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.409466	0.47284	22.4	0.99872073491849123	0.94989	0.96389	0.68899	D	AEFGBI	0.527355	0.54933	D	0.278906384348696	0.55079	3.672422	0.263173531806628	0.53402	3.50939	0.0745511489212553	0.15669	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.41	2.48	0.29194	3.495000	0.53043	4.540000	0.43760	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2218:0.0:0.7782:0.0	10.155	0.41989	16	0.98727	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2423.33	34	chr11	47290759	.	G	C	2423.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=0.535;SOR=0.68	GT:AD:DP:GQ:PL	0/1:150,107:257:99:2437,0,3678	18	0	1	0
chr11	47572989	47572989	C	T	exonic	KBTBD4	.	nonsynonymous SNV	KBTBD4:NM_001318716:exon4:c.G1645A:p.V549I,KBTBD4:NM_001318717:exon4:c.G1615A:p.V539I,KBTBD4:NM_001318718:exon4:c.G1573A:p.V525I,KBTBD4:NM_001318719:exon4:c.G1573A:p.V525I,KBTBD4:NM_001318720:exon4:c.G1567A:p.V523I,KBTBD4:NM_001318721:exon4:c.G1498A:p.V500I,KBTBD4:NM_001318722:exon4:c.G1498A:p.V500I,KBTBD4:NM_001318723:exon4:c.G1498A:p.V500I,KBTBD4:NM_001318724:exon4:c.G1498A:p.V500I,KBTBD4:NM_001318725:exon4:c.G1498A:p.V500I,KBTBD4:NM_016506:exon4:c.G1498A:p.V500I,KBTBD4:NM_018095:exon4:c.G1546A:p.V516I	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0161146445525	0.0006	.	0.0006	9.615e-05	0.0003	0	0	0.0009	0	0.0002	0.0006533	101	154602	rs3207211	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	0.0001	0.0003	3.826e-05	5.038e-05	0.0002	0.0003	0.0011	0.0006	0.0004	0.0008	0.0008	0.0008	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	0.0001	0	0.0007	0	0.0002	0.0002	0	0.0014	0	0.0006	0.626	0.06564	T	0.077	0.42794	T	0.001	0.07471	B	0.001	0.06944	B	0.000650	0.42656	N	0.234830	0.998222	0.44650	D	0.695	0.17993	N	-0.57	0.72237	T	-0.08	0.08653	N	0.099	0.10626	-1.0156	0.25143	T	0.115	0.40695	T	10	0.017309755	0.00369	T	0.016115	0.37217	T	0.123	0.34020	.	.	0.433379234345	0.42955	0.26117693650283424	0.26030	0.254023765242	0.27974	0.339329302311	0.16338	T	0.029034	0.20895	T	-0.460601	0.00975	T	-0.479949	0.24452	T	0.00650259433548907	0.00073	T	.	.	.	0.030994564	0.02859	0.026088694	0.00681	0.030994564	0.02859	0.026088694	0.00681	-4.371	0.29489	T	.	.	0.087	0.13362	B	.;.;.;.	.;.;.;.	1.092140	0.14757	11.30	0.84028491209954415	0.15056	0.81911	0.41223	D	AEFDGBCI	0.110278	0.21874	N	-0.790601789048639	0.13553	0.668546	-0.681853126183911	0.17414	0.9258855	0.999999839817492	0.74766	0.722319	0.85440	0	0.697927	0.68747	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	6.04	-2.09	0.06831	2.064000	0.41059	-0.442000	0.09154	0.599000	0.40250	0.956000	0.33378	0.000000	0.08366	0.990000	0.65344	0.0968:0.498:0.1052:0.3	3.746	0.08073	10	0.99061	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	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	0.02632	1671.33	36	chr11	47572989	.	C	T	1671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=794;ExcessHet=0;FS=2.946;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.11;SOR=0.976	GT:AD:DP:GQ:PL	0/1:88,67:155:99:1685,0,2247	18	0	1	0
chr11	48121137	48121137	A	G	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_001098503:exon4:c.A487G:p.I163V,PTPRJ:NM_002843:exon4:c.A487G:p.I163V	Colon cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00350894911407	.	.	3.302e-05	9.653e-05	0.0003	0	0	0	0	0	2.59e-05	4	154602	rs759473798	1.095e-05	1.094e-05	1.497e-05	6.875e-06	0.0001	6.48e-06	5.24e-06	5.804e-05	3.952e-05	2.987e-05	0.0001	0	0	0	0	7.194e-06	1.656e-05	0	6.57e-06	6.566e-06	1.284e-05	0	6.542e-05	0	0	.	.	0	0	6.542e-05	0	0	0	0	0	0	0	0.526	0.07116	T	0.543	0.09690	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	0.65	0.56446	T	0.03	0.10308	N	0.036	0.01068	-1.0467	0.15332	T	0.036	0.15334	T	9	0.029842824	0.01111	T	0.003509	0.07969	T	0.027	0.05988	.	.	0.0762999501168	0.06990	0.10018350454263737	0.09949	0.191156484107	0.21440	0.239668056369	0.02761	T	0.039825	0.35035	T	-0.542616	0.00323	T	-0.747907	0.03568	T	0.012518315905784	0.00207	T	0.310469	0.06031	T	0.029641164	0.02492	0.031685807	0.01792	0.029641164	0.02492	0.031685807	0.01792	-2.559	0.06198	T	.	.	0.102	0.17869	B	.;.;.;.;.	.;.;.;.;.	-1.785251	0.00162	0.002	0.16071361227848457	0.00417	0.00971	0.03712	N	AEFGBI	0.043922	0.07004	N	-2.28452480040223	0.00049	0.002117381	-2.31967981204565	0.00060	0.002633468	0.999999868325085	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.6	-9.21	0.00578	-1.462000	0.02470	.	.	-3.438000	0.00085	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2901:0.0983:0.4089:0.2026	2.941	0.05472	138	0.94518	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2150.33	37	chr11	48121137	.	A	G	2150.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.084;DP=902;ExcessHet=0;FS=2.577;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.474;SOR=0.52	GT:AD:DP:GQ:PL	0/1:92,89:181:99:2164,0,2277	18	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	775.27	278	chr11	56375950	.	A	*	775.27	.	AC=16;AF=0.421;AN=38;BaseQRankSum=5.68;DP=4836;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9009;MLEAC=16;MLEAF=0.421;MQ=59.99;MQRankSum=0;QD=0.17;ReadPosRankSum=0.109;SOR=1.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,51:260:99:0|1:56375918_A_G:1502,0,8614:56375918	3	0	16	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	490.26	278	chr11	56375951	.	T	*	490.26	.	AC=16;AF=0.444;AN=36;BaseQRankSum=4.1;DP=4828;ExcessHet=38.2876;FS=6.951;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.11;ReadPosRankSum=0.061;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,51:260:99:0|1:56375918_A_G:1502,0,8614:56375918	2	0	16	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	797.75	278	chr11	56375953	.	A	*	797.75	.	AC=16;AF=0.444;AN=36;BaseQRankSum=3.15;DP=4825;ExcessHet=38.2876;FS=6.913;InbreedingCoeff=-0.9487;MLEAC=16;MLEAF=0.444;MQ=59.99;MQRankSum=0;QD=0.18;ReadPosRankSum=0.371;SOR=1.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,51:260:99:0|1:56375918_A_G:1502,0,8614:56375918	2	0	16	1
chr11	58423094	58423094	G	-	exonic	OR5B2	.	frameshift deletion	OR5B2:NM_001005566:exon1:c.168delC:p.M57Cfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.25e-06	9.612e-05	0	0	0	0	0	0	3.84e-05	1	26028	rs762686526	6.842e-06	6.84e-06	5.446e-06	8.252e-06	0.0002	3.46e-06	2.52e-06	3.85e-06	1.44e-06	2.99e-05	0	0	0	0	0.0002	0	9.936e-05	2.319e-05	6.584e-06	6.57e-06	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2628.29	76	chr11	58423093	.	TG	T	2628.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.79;DP=1208;ExcessHet=0;FS=1.163;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=1.64;SOR=0.797	GT:AD:DP:GQ:PL	0/1:83,97:180:99:2642,0,2169	18	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,28:96:99:0|1:61740527_G_C:324,0,1953:61740527	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,26:96:99:0|1:61740527_G_C:249,0,2001:61740527	2	0	17	0
chr11	62576195	62576195	A	T	exonic	TUT1	.	nonsynonymous SNV	TUT1:NM_001367906:exon9:c.T1465A:p.W489R	.	407	1085	30	0	0	30	0.0136364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0066	0.00179712	0.0091	0.0019	0.0051	0	0.0048	0.0138	0.0097	0.0026	0.0071797	1110	154602	rs118073625	0.0083	0.0083	0.0084	0.0082	0.0180	0.0082	0.0081	0.0152	0.0141	0.0012	0.0035	0.0068	0	0.0042	0.0180	0.0097	0.0084	0.0019	0.0053	0.0053	0.0059	0.0046	0.0089	0.0050	0.0049	0.0083	0.0081	0.0015	0.0011	0.0033	0.0081	0	0.0024	0.0170	0.0089	0.0085	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.014099	0.005051	0.014946	0.029240	0.000000	0.008621	0.009146	0.003788	0.02632	976.33	36	chr11	62576195	.	A	T	976.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.054;DP=736;ExcessHet=0;FS=2.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.39;ReadPosRankSum=0.426;SOR=0.449	GT:AD:DP:GQ:PL	0/1:52,42:94:99:990,0,1366	18	0	1	0
chr11	62632636	62632636	G	A	exonic	GANAB	.	nonsynonymous SNV	GANAB:NM_001278193:exon6:c.C583T:p.R195C,GANAB:NM_001278192:exon7:c.C649T:p.R217C,GANAB:NM_001278194:exon8:c.C634T:p.R212C,GANAB:NM_001329222:exon9:c.C634T:p.R212C,GANAB:NM_001329223:exon9:c.C634T:p.R212C,GANAB:NM_001329224:exon9:c.C202T:p.R68C,GANAB:NM_001329225:exon9:c.C202T:p.R68C,GANAB:NM_198334:exon9:c.C925T:p.R309C,GANAB:NM_198335:exon10:c.C991T:p.R331C	Polycyctic kidney disease 3, Autosomal dominant	430	1067	25	0	0	25	0.0115794	.	.	.	724534	not_provided|Autosomal_dominant_polycystic_liver_disease|Chronic_kidney_disease	MedGen:C3661900|Human_Phenotype_Ontology:HP:0006557,MONDO:MONDO:0000447,MedGen:C0158683,OMIM:PS174050,Orphanet:2924|Human_Phenotype_Ontology:HP:0000106,Human_Phenotype_Ontology:HP:0001918,Human_Phenotype_Ontology:HP:0008671,Human_Phenotype_Ontology:HP:0012622,MONDO:MONDO:0005300,MedGen:C1561643	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.717	.	0.0095	0.0103834	0.0083	0.0150	0.0067	0.0088	0.0020	0.0078	0.0088	0.0098	0.0080271	1241	154602	rs1063445	0.0067	0.0067	0.0066	0.0068	0.0186	0.0066	0.0065	0.0157	0.0146	0.0151	0.0043	0.0070	0.0082	0.0016	0.0186	0.0064	0.0079	0.0088	0.0075	0.0076	0.0077	0.0074	0.0133	0.0072	0.0070	0.0124	0.0120	0.0133	0.0011	0.0034	0.0081	0.0060	0.0008	0.0170	0.0056	0.0161	0.0108	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.94	0.76457	D	0.000312	0.45977	D	0.158034	1	0.81001	D	2.88	0.83451	M	-3.01	0.92208	D	-5.42	0.87835	D	0.654	0.69562	0.645	0.92482	D	0.789	0.92836	D	10	0.008801788	0.00199	T	.	.	.	0.717	0.89966	.	.	0.939732145296	0.93910	0.9146277663219602	0.91437	2.38724322197	0.97073	0.721068382263	0.70203	T	0.702843	0.91459	D	0.074549	0.61396	D	0.346632	0.90183	D	0.0281658785744699	0.01712	T	0.978677	0.92705	D	0.4566357	0.64461	0.35273233	0.60846	0.4085814	0.61323	0.35273233	0.60845	-7.504	0.57638	D	0.6457925916148197	0.71718	0.231	0.46424	B	.;.;.;.;.	.;.;.;.;.	5.172422	0.86702	29.0	0.99940139942126072	0.99767	0.94032	0.59908	D	AEFGBIJ	0.703360	0.65943	D	0.706471479556146	0.80056	7.210595	0.650084857993844	0.78616	6.912401	0.983753630049269	0.30609	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.19	5.19	0.71428	1.966000	0.40105	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:1.0:0.0	16.255	0.82330	250	0.90192	.;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain;Glycoside hydrolase family 31, N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.018127	0.005051	0.019022	0.035088	0.000000	0.008621	0.009146	0.015152	0.02632	1813.33	35	chr11	62632636	.	G	A	1813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.219;DP=818;ExcessHet=0;FS=4.161;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.712;SOR=1.047	GT:AD:DP:GQ:PL	0/1:59,73:132:99:1827,0,1382	18	0	1	0
chr11	64207420	64207420	G	A	exonic	FERMT3	.	nonsynonymous SNV	FERMT3:NM_001382361:exon2:c.G56A:p.R19Q,FERMT3:NM_001382362:exon2:c.G56A:p.R19Q,FERMT3:NM_031471:exon2:c.G56A:p.R19Q,FERMT3:NM_178443:exon2:c.G56A:p.R19Q,FERMT3:NM_001382448:exon3:c.G56A:p.R19Q	Leukocyte adhesion deficiency, type III, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	565944	Leukocyte_adhesion_deficiency_3|Inborn_genetic_diseases	MONDO:MONDO:0013016,MedGen:C2748536,OMIM:612840,Orphanet:2968,Orphanet:99844|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.025	0.00685528355893	0.0006	.	0.0001	0.0014	0	0.0001	0	3.007e-05	0	6.057e-05	0.0001229	19	154602	rs150500299	5.609e-05	5.609e-05	5.037e-05	6.188e-05	0.0010	4.61e-05	4.236e-05	0.0007	0.0007	0.0010	8.945e-05	0	0.0001	1.872e-05	0	2.158e-05	0.0001	8.115e-05	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0002	0	0	0	0	1.47e-05	0	0.0002	0.537	0.06869	T	0.595	0.08079	T	0.0	0.12996	B	0.001	0.04355	B	0.470303	0.12286	N	0.735454	0.995411	0.23296	N	1.445	0.36358	L	0.91	0.44856	T	-0.07	0.11913	N	0.3	0.33904	-1.0283	0.21005	T	0.052	0.22192	T	10	0.017477065	0.00373	T	0.006855	0.18121	T	0.025	0.05312	.	.	0.334659703779	0.33074	0.21884578184814057	0.21800	0.431909252682	0.43380	0.605880439281	0.53734	T	0.015196	0.43008	T	-0.579085	0.00195	T	-0.63997	0.09670	T	0.0186253928711827	0.00576	T	0.165683	0.03106	T	0.1482509	0.33854	0.06087755	0.11664	0.1482509	0.33853	0.06087755	0.11664	-6.082	0.46960	T	0.0919056872459454	0.05881	0.070	0.03336	B	.;.;.	.;.;.	2.586864	0.33551	19.37	0.99578991826829277	0.72861	0.28970	0.23697	N	ALL	0.097416	0.19649	N	-0.663277983981279	0.17074	0.8755355	-0.54375564833644	0.20971	1.132331	0.999999999998507	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.600373	0.31884	2	0.56214	0.19341	0	.	.	4.48	2.6	0.30173	0.371000	0.20182	1.007000	0.23304	-0.123000	0.13640	0.002000	0.15269	0.342000	0.24428	0.689000	0.33808	0.3722:0.0:0.6278:0.0	5.198	0.14573	600	0.68026	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1367.33	34	chr11	64207420	.	G	A	1367.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=750;ExcessHet=0;FS=4.533;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.437;SOR=0.88	GT:AD:DP:GQ:PL	0/1:60,55:115:99:1381,0,1368	18	0	1	0
chr11	65860785	65860785	G	A	exonic	MUS81	.	nonsynonymous SNV	MUS81:NM_001350283:exon1:c.G32A:p.R11H,MUS81:NM_025128:exon1:c.G32A:p.R11H	.	395	1125	1	1	0	3	0.00133156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.130855055424	.	.	0.0005	0	0	0	0	0	0	0.0008	6.47e-05	10	154602	rs768885045	4.547e-05	5.13e-05	1.567e-05	7.606e-05	0.0008	3.632e-05	3.301e-05	0.0006	0.0005	0	0	0	0	0	0	2.782e-06	0	0.0008	1.969e-05	1.968e-05	0	4.027e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	0	0	0.0006	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.695	0.78878	M	0.84	0.47477	T	-3.16	0.64246	D	0.305	0.34444	-0.5240	0.67767	T	0.283	0.65518	T	10	0.19619048	0.35501	T	0.130855	0.81305	D	0.112	0.31546	0.297	0.26202	0.701989571725	0.69940	0.6122176122001229	0.61153	2.17994158053	0.95564	0.793460190296	0.80969	T	0.103102	0.54426	T	-0.274698	0.11238	T	-0.251634	0.49656	T	0.725232601165771	0.41965	D	0.940606	0.77652	D	0.3777465	0.59153	0.5044754	0.71357	0.3777465	0.59153	0.5044754	0.71358	-8.759	0.66132	D	.	.	0.400	0.59555	A	.;.	.;.	5.383271	0.90209	31	0.99932189753617684	0.99439	0.79290	0.39262	D	ALL	0.723694	0.67323	D	0.659942392492967	0.77015	6.593833	0.625748971799916	0.76816	6.561143	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.48	5.48	0.80675	5.084000	0.64294	11.585000	0.93367	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.329000	0.25179	0.0:0.0:1.0:0.0	14.845	0.69884	237	0.90758	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1167.33	38	chr11	65860785	.	G	A	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.29;DP=747;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.33;SOR=0.665	GT:AD:DP:GQ:PL	0/1:49,41:90:99:1181,0,1297	18	0	1	0
chr11	66515549	66515549	G	A	exonic	BBS1	.	nonsynonymous SNV	BBS1:NM_024649:exon5:c.G442A:p.D148N	Bardet-Biedl syndrome 1, Autosomal recessive, Digenic recessive	4	1517	1	0	0	1	0.000329489	.	.	YES	640363	not_provided|BBS1-related_disorder|Bardet-Biedl_syndrome_1|Bardet-Biedl_syndrome	MedGen:C3661900|.|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900,Orphanet:110	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.520	0.188629795649	.	0.00119808	0.0003	0	0	0	0	1.499e-05	0.0011	0.0022	0.0002846	44	154602	rs200688985	0.0002	0.0002	8.984e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	2.987e-05	0	0	5.038e-05	0	0	2.158e-05	9.935e-05	0.0023	0.0001	0.0001	3.857e-05	0.0002	0.0027	6.511e-05	5.322e-05	0.0016	0.0013	2.408e-05	0	0	0	0.0002	0	0	1.47e-05	0	0.0027	0.059	0.37536	T	0.074	0.92824	T	1.0	0.90584	D	0.988	0.77976	D	.	.	.	.	0.999999	0.81001	D	2.125	0.59049	M	-2.63	0.90083	D	-2.57	0.57110	D	0.328	0.38232	0.535	0.91031	D	0.775	0.92363	D	9	0.019747227	0.00445	T	0.18863	0.86013	D	0.520	0.79583	.	.	0.940085781844	0.93946	0.39826861741265235	0.39741	0.598451192957	0.56487	0.558984160423	0.47125	T	0.776773	0.94071	D	-0.332064	0.05956	T	-0.255621	0.49260	T	0.143794432760841	0.16597	T	0.884712	0.60854	D	0.09663092	0.22764	0.08473048	0.19514	0.09663092	0.22764	0.08473048	0.19513	-4.094	0.27994	T	0.21063055517451096	0.28224	0.147	0.40295	B	.;.;.;.;.	.;.;.;.;.	3.948492	0.57831	23.9	0.99622164983078232	0.75473	0.97183	0.73178	D	AEFDBI	0.551153	0.56334	D	0.219464113040687	0.52143	3.390407	0.145581991900104	0.46910	2.929273	0.744591249279758	0.23265	0.706548	0.73137	0	0.577304	0.33150	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.25	4.34	0.51267	6.325000	0.72861	9.755000	0.81488	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.290000	0.24260	0.0865:0.0:0.9135:0.0	11.670	0.50655	56	0.97520	.;Bardet-Biedl syndrome 1, N-terminal;Bardet-Biedl syndrome 1, N-terminal;.;Bardet-Biedl syndrome 1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2578.33	43	chr11	66515549	.	G	A	2578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.225;DP=953;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=0.69;SOR=0.695	GT:AD:DP:GQ:PL	0/1:127,113:240:99:2592,0,2978	18	0	1	0
chr11	66555362	66555362	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon7:c.C713T:p.A238V,ACTN3:NM_001258371:exon7:c.C842T:p.A281V	.	296	1199	25	2	0	29	0.0119489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0065	0.00359425	0.0068	0.0025	0.0043	0	0.0009	0.0099	0.0066	0.0046	0.0069404	1073	154602	rs144340728	0.0084	0.0084	0.0084	0.0083	0.0163	0.0083	0.0082	0.0136	0.0126	0.0016	0.0050	0.0205	0	0.0016	0.0163	0.0094	0.0086	0.0040	0.0064	0.0064	0.0068	0.0060	0.0097	0.0061	0.0060	0.0091	0.0089	0.0019	0.0033	0.0074	0.0222	0	0.0007	0.0102	0.0097	0.0066	0.0037	.	.	.	0.859	0.10429	T	0.416	0.35222	B	0.312	0.41466	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.872	0.86941	.	.	.	.	.	.	.	0.013723195	0.00290	T	.	.	.	.	.	.	.	0.618057396677	0.61496	0.6843920444954242	0.68378	.	.	0.745128154755	0.73728	T	0.384957	0.93084	T	0.0370574	0.56659	T	0.294734	0.87949	D	.	.	.	0.975469	0.91344	D	0.26528773	0.49597	0.43358165	0.66906	0.26528773	0.49597	0.43358165	0.66906	-9.369	0.70041	D	.	.	0.252	0.56959	B	.;.	.;.	4.469163	0.69627	25.4	0.99661219910328513	0.77947	0.98007	0.78823	D	AEFDBI	0.924860	0.90353	D	.	.	.	.	.	.	0.999999002257923	0.74766	0.252514	0.04256	0	0.097471	0.02872	0	0.295636	0.05589	0	0.058706	0.01089	0	.	.	4.69	4.69	0.58546	7.844000	0.85149	4.893000	0.45784	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:1.0:0.0:0.0	15.190	0.72721	59	0.97452	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain;Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	rs144340728	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	0.016616	0.005051	0.028533	0.020468	0.000000	0.017241	0.012195	0.003788	0.02632	2180.33	40	chr11	66555362	.	C	T	2180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.174;DP=845;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.349;SOR=0.688	GT:AD:DP:GQ:PL	0/1:104,85:189:99:2194,0,2961	18	0	1	0
chr11	67608412	67608412	C	G	exonic	NDUFV1	.	nonsynonymous SNV	NDUFV1:NM_001166102:exon2:c.C62G:p.T21S,NDUFV1:NM_007103:exon2:c.C89G:p.T30S	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0237339634623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.21634	T	0.231	0.25438	T	0.005	0.12996	B	0.007	0.16460	B	0.000081	0.52346	D	0.167753	0.999951	0.81001	D	1.735	0.44892	L	-1.19	0.78427	T	-1.01	0.48850	N	0.342	0.40465	-0.4870	0.69115	T	0.348	0.71289	T	10	0.3319496	0.50409	T	0.023734	0.46713	T	0.249	0.55752	0.257	0.19845	0.822129434029	0.82045	0.6979377297507748	0.69734	0.238803893762	0.26431	0.763441562653	0.76443	T	0.245562	0.61488	T	-0.078465	0.39963	T	-0.350486	0.39149	T	0.744090855121613	0.42959	D	0.776122	0.40827	T	0.107709534	0.25468	0.062265858	0.12156	0.107709534	0.25468	0.062265858	0.12155	-6.651	0.51440	T	.	.	0.082	0.26576	B	.;.;.;.;.;.	.;.;.;.;.;.	3.411859	0.47334	22.4	0.98490803181232456	0.42096	0.97411	0.74579	D	AEFBI	0.809988	0.73335	D	0.0583570156422493	0.44526	2.725182	0.196330027643671	0.49646	3.165261	0.999999985050494	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.77	3.84	0.43422	5.647000	0.67597	4.850000	0.45366	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9063:0.0:0.0937	11.086	0.47306	774	0.48577	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	556.75	153	chr11	67608412	.	C	G	556.75	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-4.434;DP=2846;ExcessHet=2.0135;FS=131.701;InbreedingCoeff=-0.3119;MLEAC=8;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.15;SOR=11.518	GT:AD:DP:GQ:PL	0/1:160,41:213:99:161,0,3403	8	0	6	5
chr11	68363773	68363773	C	T	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_002335:exon4:c.C713T:p.T238M	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	194366	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.701	0.495901038029	7.7e-05	0.000599042	0.0001	0.0001	8.954e-05	0	0	6.462e-05	0	0.0007	0.0001358	21	154602	rs375404890	0.0001	0.0001	0.0001	0.0001	0.0008	0.0001	0.0001	0.0006	0.0006	2.987e-05	0.0001	3.827e-05	7.558e-05	0	0.0003	8.724e-05	0.0001	0.0008	0.0001	0.0001	0.0002	0.0001	0.0012	9.161e-05	7.715e-05	0.0005	0.0004	2.414e-05	0	0.0002	0	0.0002	0	0	0.0001	0	0.0012	0.017	0.51248	D	0.041	0.50514	D	0.997	0.70673	D	0.909	0.64565	D	0.000129	0.49741	U	0.000000	0.999994	0.58761	D	0.55	0.14455	N	-3.86	0.95891	D	-1.54	0.37375	N	0.355	0.39659	0.909	0.95795	D	0.848	0.94943	D	10	0.14121306	0.26835	T	0.495901	0.95074	D	0.701	0.89238	.	.	0.684902298874	0.68221	0.7340027607619051	0.73345	0.49715111449	0.48212	0.760690152645	0.76032	T	0.648199	0.89292	D	-0.0544524	0.43768	T	0.051599	0.73689	D	0.0940607594486104	0.11691	T	0.781022	0.41604	T	0.092075124	0.21592	0.11386681	0.27483	0.092075124	0.21591	0.11386681	0.27483	-2.864	0.08788	T	0.17786304870278433	0.22767	0.072	0.04198	B	.	.	4.441685	0.68969	25.3	0.99926612009954752	0.99103	0.95701	0.65788	D	AEFDBHI	0.747342	0.68943	D	0.466005514492029	0.65118	4.782299	0.448996494294704	0.64652	4.725376	0.999999999238507	0.74766	0.732398	0.92422	0	0.644132	0.57912	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	3.78	3.78	0.42629	6.019000	0.70471	4.761000	0.44715	0.541000	0.25215	0.652000	0.28189	1.000000	0.68203	0.974000	0.55675	0.0:1.0:0.0:0.0	16.169	0.81604	526	0.73951	.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	919.33	37	chr11	68363773	.	C	T	919.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.427;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=2.6;SOR=0.589	GT:AD:DP:GQ:PL	0/1:37,37:74:99:933,0,938	18	0	1	0
chr11	68413880	68413880	C	T	exonic	LRP5	.	nonsynonymous SNV	LRP5:NM_001291902:exon12:c.C952T:p.R318C,LRP5:NM_002335:exon12:c.C2695T:p.R899C	Exudative vitreoretinopathy 4, Autosomal recessive, Autosomal dominant;Hyperostosis, endosteal, Autosomal dominant;Osteopetrosis, autosomal dominant 1, Autosomal dominant;Osteoporosis-pseudoglioma syndrome, Autosomal recessive;Osteosclerosis, Autosomal dominant;van Buchem disease, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1437803	Polycystic_liver_disease_4_with_or_without_kidney_cysts|Worth_disease|Osteoporosis|Exudative_vitreoretinopathy_1|Autosomal_dominant_osteopetrosis_1|Osteoporosis_with_pseudoglioma|Bone_mineral_density_quantitative_trait_locus_1|Exudative_vitreoretinopathy_4|not_provided	MONDO:MONDO:0044327,MedGen:C4693479,OMIM:617875|MONDO:MONDO:0007764,MedGen:C0432273,OMIM:144750,Orphanet:2790|Human_Phenotype_Ontology:HP:0000939,Human_Phenotype_Ontology:HP:0002774,MONDO:MONDO:0005298,MedGen:C0029456,OMIM:166710|MONDO:MONDO:0007589,MedGen:C1851402,OMIM:133780,Orphanet:891,Orphanet:90050|MONDO:MONDO:0011877,MedGen:C1843330,OMIM:607634,Orphanet:2783|MONDO:MONDO:0009820,MedGen:C0432252,OMIM:259770,Orphanet:2788|MedGen:C1866079,OMIM:601884|MONDO:MONDO:0011151,MedGen:C1866176,OMIM:601813,Orphanet:891|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.830	0.815542584512	.	.	8.293e-06	0	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs760734426	4.792e-06	5.472e-06	5.449e-06	4.128e-06	0.0002	1.99e-06	1.28e-06	2.194e-05	1.43e-05	0	2.236e-05	0	0	0	0.0002	0	0	5.797e-05	6.568e-06	1.313e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	0.000371	0.45194	U	0.000000	1	0.81001	D	3.84	0.95699	H	-2.96	0.91956	D	-6.09	0.89947	D	0.924	0.92784	0.960	0.96544	D	0.883	0.96132	D	10	0.9259753	0.91945	D	0.815543	0.98564	D	0.830	0.94616	0.626	0.76141	0.969059605449	0.96872	0.6518063755097245	0.65116	1.47296230253	0.86566	0.754757523537	0.75149	T	0.762661	0.93583	D	0.34337	0.86062	D	0.436978	0.93240	D	0.994048833847046	0.85117	D	0.981302	0.93576	D	0.63907295	0.74782	0.52449435	0.72528	0.63907295	0.74783	0.52449435	0.72528	-12.128	0.85469	D	0.6455737944364326	0.71693	0.749	0.75012	P	.	.	5.520814	0.91775	32	0.99939484262041145	0.99734	0.92272	0.55331	D	AEFDGBCI	0.753707	0.69381	D	0.749486088953612	0.82872	7.871181	0.676396764239117	0.80591	7.332837	0.999999996484303	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	1.432000	0.34545	7.605000	0.61698	0.599000	0.40250	0.776000	0.29426	1.000000	0.68203	0.997000	0.79791	0.1561:0.8438:0.0:0.0	13.495	0.60876	680	0.59965	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2751.33	34	chr11	68413880	.	C	T	2751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.28;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.813;SOR=0.7	GT:AD:DP:GQ:PL	0/1:79,108:187:99:2765,0,1737	18	0	1	0
chr11	71527509	71527509	G	C	exonic	KRTAP5-7	.	nonsynonymous SNV	KRTAP5-7:NM_001012503:exon1:c.G209C:p.C70S	.	425	1080	14	3	0	20	0.00917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00160004821466	0.0009	0.000998403	0.0015	0.0003	0.0008	0	0	0.0018	0	0.0031	0.0013519	209	154602	rs199516478	0.0009	0.0009	0.0008	0.0010	0.0077	0.0008	0.0008	0.0058	0.0051	0.0002	0.0006	0.0091	0	0.0001	0.0077	0.0006	0.0014	0.0027	0.0010	0.0010	0.0011	0.0008	0.0021	0.0009	0.0008	0.0011	0.0009	9.695e-05	0	0.0013	0.0127	0	9.477e-05	0.0034	0.0009	0.0024	0.0021	0.0	0.91255	D	0.083	0.41405	T	0.871	0.47859	P	0.135	0.33210	B	.	.	.	.	0.991795	0.23982	N	2.875	0.83380	M	4.64	0.01799	T	-1.21	0.30762	N	0.214	0.23884	-0.9648	0.38250	T	0.006	0.01870	T	9	0.0050088167	0.00108	T	0.002	0.02574	T	0.069	0.20116	0.249	0.18602	0.043077524339	0.03247	0.024086599645979756	0.02359	0.0114129139534	0.01068	.	.	.	0.005037	0.04473	T	-0.479888	0.00740	T	-0.465153	0.26041	T	0.0765461762820738	0.09539	T	0.207979	0.02486	T	0.7362873	0.80080	0.5179825	0.72150	0.7362873	0.80082	0.5179825	0.72151	-11.531	0.82492	D	.	.	0.27	0.50417	B	.	.	1.657634	0.21145	15.07	0.75624857324298111	0.11147	0.37596	0.25797	N	AEFDBCI	0.146731	0.27024	N	-0.20482667406607	0.32935	1.862953	-0.256948208885445	0.29533	1.655342	0.639059402723984	0.22036	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.46	2.46	0.29032	2.662000	0.46431	.	.	0.327000	0.19478	0.324000	0.25538	0.749000	0.26537	0.025000	0.12405	0.1709:0.0:0.8291:0.0	5.810	0.17722	603	0.67726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005808	0.005051	0.008152	0.016000	0.050000	0.000000	0.000000	0.000000	0.02632	1701.33	174	chr11	71527509	.	G	C	1701.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.637;DP=2362;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=0;QD=10.98;ReadPosRankSum=-0.634;SOR=0.726	GT:AD:DP:GQ:PL	0/1:79,76:155:99:1715,0,2118	18	0	1	0
chr11	71527700	71527700	-	C	exonic	KRTAP5-7	.	frameshift insertion	KRTAP5-7:NM_001012503:exon1:c.401dupC:p.G135Rfs*20	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1320172769	3.165e-05	0.0011	3.832e-05	2.511e-05	0.0005	2.298e-05	2.034e-05	0.0003	0.0002	0.0005	4.651e-05	0	0	6.246e-05	0	1.511e-05	0.0001	0	0.0004	0.0056	0.0003	0.0004	0.0008	0.0003	0.0002	0.0004	0.0003	0.0003	0	0.0008	0	0.0004	0.0001	0	0.0003	0.0016	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	99.29	45	chr11	71527700	.	T	TC	99.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.921;DP=2160;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.67;MQRankSum=-10.23;QD=0.45;ReadPosRankSum=0.251;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,18:220:99:1|0:71527629_C_CCTGCTGCCAGTCCAGCTGCTGTAAGCCCTG:113,0,8428:71527629	18	0	1	0
chr11	71527710	71527710	G	A	exonic	KRTAP5-7	.	nonsynonymous SNV	KRTAP5-7:NM_001012503:exon1:c.G410A:p.G137E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00120614921592	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1483222073	2.92e-05	0.0010	3.508e-05	2.333e-05	0.0004	2.12e-05	1.876e-05	0.0002	0.0002	0.0004	2.322e-05	4.132e-05	2.634e-05	6.302e-05	0	1.361e-05	9.668e-05	0	0.0003	0.0054	0.0002	0.0004	0.0007	0.0002	0.0002	0.0004	0.0003	0.0003	0.0012	0.0007	0	0.0002	0.0002	0	0.0002	0.0016	0.0005	0.431	0.09514	T	0.602	0.07894	T	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	2.43	0.70455	M	5.08	0.01245	T	0.89	0.01641	N	0.163	0.17140	-0.8690	0.50604	T	0.004	0.01470	T	9	0.020117402	0.00458	T	0.001206	0.01558	T	0.048	0.13305	0.196	0.10839	0.043077524339	0.03247	0.005164826475463748	0.00487	0.0114075377908	0.01068	.	.	.	0.045091	0.27016	T	-0.305003	0.08196	T	-0.675892	0.07236	T	0.0731619946187774	0.09088	T	0.0472953	0.00339	T	0.049296666	0.08730	0.074916676	0.16438	0.049296666	0.08730	0.074916676	0.16438	-8.963	0.67458	D	.	.	0.251	0.48551	B	.	.	1.576272	0.20177	14.62	0.26484491711072344	0.01271	0.02044	0.06116	N	AEFDGBHCI	0.027397	0.02231	N	-1.48686881969918	0.01942	0.08526225	-1.59391760537267	0.01692	0.07686525	0.999992696652889	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	1.53	-3.06	0.05053	0.957000	0.28812	.	.	0.323000	0.19410	0.007000	0.17678	0.006000	0.19429	0.409000	0.26983	0.4277:0.0:0.5723:0.0	8.142	0.30252	603	0.67726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	57.33	45	chr11	71527710	.	G	A	57.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.638;DP=2218;ExcessHet=0;FS=0.913;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.27;MQRankSum=-12.01;QD=0.25;ReadPosRankSum=-1.755;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,18:234:71:1|0:71527629_C_CCTGCTGCCAGTCCAGCTGCTGTAAGCCCTG:71,0,9016:71527629	18	0	1	0
chr11	77199663	77199663	C	T	exonic	MYO7A	.	nonsynonymous SNV	MYO7A:NM_000260:exon35:c.C4697T:p.T1566M,MYO7A:NM_001127180:exon35:c.C4583T:p.T1528M,MYO7A:NM_001369365:exon36:c.C4550T:p.T1517M	Deafness, autosomal dominant 11, Autosomal dominant;Deafness, autosomal recessive 2, Autosomal recessive;Usher syndrome, type 1B, Autosomal recessive	0	1504	18	0	0	18	0.00594845	.	.	.	52424	Autosomal_dominant_nonsyndromic_hearing_loss_11|Usher_syndrome_type_1B|Usher_syndrome_type_1|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_2|not_specified	MONDO:MONDO:0011032,MedGen:C1832475,OMIM:601317,Orphanet:90635|MONDO:MONDO:0700087,MedGen:C2931206|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MONDO:MONDO:0010807,MedGen:C1838701,OMIM:600060,Orphanet:90636|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.073	.	0.0050	0.00279553	0.0050	0.0005	0.0020	0.0001	0.0060	0.0076	0.0027	0.0012	0.004366	675	154602	rs41298747	0.0054	0.0054	0.0054	0.0054	0.0092	0.0053	0.0053	0.0072	0.0065	0.0007	0.0027	0.0125	0.0003	0.0060	0.0092	0.0060	0.0052	0.0013	0.0050	0.0050	0.0052	0.0048	0.0077	0.0047	0.0046	0.0072	0.0070	0.0009	0.0066	0.0030	0.0127	0.0004	0.0073	0.0102	0.0077	0.0076	0.0012	0.154	0.24277	T	0.122	0.35840	T	0.664	0.41009	P	0.223	0.37929	B	0.017530	0.27701	N	0.423150	0.999988	0.18198	N	0.69	0.16971	N	-0.31	0.68030	T	-0.41	0.14000	N	0.104	0.08786	-0.9604	0.39106	T	0.115	0.40853	T	10	0.006384641	0.00145	T	.	.	.	0.073	0.21317	.	.	0.75200497543	0.74976	0.12923958854021883	0.12848	0.0885891732635	0.10020	0.385310351849	0.23006	T	0.220086	0.58327	T	-0.530895	0.00379	T	-0.527837	0.19504	T	0.00512302667756455	0.00055	T	0.852615	0.55989	D	0.017381454	0.00268	0.03445328	0.02516	0.015166526	0.00125	0.038304687	0.03668	-5.351	0.40445	T	0.08136078004103159	0.04195	0.090	0.12560	B	.;.;.;.	.;.;.;.	1.337338	0.17432	13.16	0.94310586658179629	0.24628	0.18043	0.20095	N	AEFDGI	0.117925	0.23080	N	-0.640566103457634	0.17735	0.9151354	-0.736179593146757	0.16063	0.8479552	0.736891995289645	0.23146	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.97	-1.95	0.07135	0.446000	0.21410	-1.362000	0.05620	0.599000	0.40250	0.015000	0.19116	0.000000	0.08366	0.870000	0.41412	0.2613:0.2701:0.0:0.4686	4.751	0.12435	670	0.60992	FERM domain;.;.;FERM domain	.	.	.	.	rs41298747	Likely benign	0	0	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	0.009567	0.040404	0.008152	0.005848	0.000000	0.000000	0.006098	0.003788	0.02632	1266.33	33	chr11	77199663	.	C	T	1266.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.93;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.05;ReadPosRankSum=-0.979;SOR=0.649	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1280,0,1070	18	0	1	0
chr11	89875070	89875070	T	A	exonic	TRIM64B	.	stopgain	TRIM64B:NM_001164397:exon2:c.A412T:p.K138X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1302025115	7.883e-06	1.231e-05	5.657e-06	1.017e-05	9.293e-06	4.23e-06	3.09e-06	4.7e-06	3.43e-06	0	0	0	0	0	0	9.293e-06	1.73e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15311	0.69559	D	-0.00702572	0.69879	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.214960	0.63706	24.6	0.98994139066150977	0.50003	0.01843	0.05707	N	AEFI	0.022088	0.01060	N	0.165294046581012	0.49538	3.153097	-0.255115497087078	0.29594	1.659349	2.09323605919627E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.73	1.73	0.23565	1.372000	0.33866	-2.450000	0.03739	0.321000	0.19380	0.011000	0.18532	0.000000	0.08366	0.030000	0.13115	0.0:0.0:0.0:1.0	5.595	0.16605	725	0.54935	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1257.33	36	chr11	89875070	.	T	A	1257.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.337;DP=1005;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.3;MQRankSum=-3.091;QD=3.63;ReadPosRankSum=-0.894;SOR=0.691	GT:AD:DP:GQ:PL	0/1:266,80:346:99:1271,0,6968	18	0	1	0
chr11	102772873	102772873	G	T	exonic	MMP10	.	stopgain	MMP10:NM_002425:exon8:c.C1200A:p.Y400X	.	420	1099	3	0	0	3	0.00136302	.	.	.	1306586	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0024	0.00139776	0.0024	0.0006	0.0008	0	0.0006	0.0041	0	0.0003	0.0024709	382	154602	rs147267769	0.0039	0.0039	0.0040	0.0038	0.0048	0.0038	0.0038	0.0047	0.0046	0.0006	0.0008	0.0001	0	0.0008	0.0038	0.0048	0.0033	0.0002	0.0024	0.0024	0.0024	0.0025	0.0046	0.0022	0.0022	0.0042	0.0040	0.0007	0	0.0012	0	0	0.0004	0	0.0046	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	0.010946	0.29719	N	0.158589	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.709	0.71232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234596	0.77153	D	0.566539	0.96104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	High|High	7.896029	0.96968	36	0.99371853889774431	0.61498	0.92195	0.55157	D	AEFBI	0.396335	0.47285	N	0.30913873109418	0.56615	3.826648	0.0581865038687064	0.42468	2.569272	9.18596192498251E-5	0.04910	0.706298	0.61202	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.46	0.46	0.15895	0.030000	0.13576	0.981000	0.23125	0.672000	0.70159	0.136000	0.23442	0.325000	0.24344	0.901000	0.43729	0.3586:0.0:0.6414:0.0	10.683	0.45024	768	0.49510	Hemopexin-like 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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	966.33	34	chr11	102772873	.	G	T	966.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.484;DP=767;ExcessHet=0;FS=2.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=1.04;SOR=0.858	GT:AD:DP:GQ:PL	0/1:48,47:95:99:980,0,1201	18	0	1	0
chr11	108271261	108271261	T	C	exonic	ATM	.	nonsynonymous SNV	ATM:NM_000051:exon20:c.T2932C:p.S978P,ATM:NM_001351834:exon21:c.T2932C:p.S978P	Ataxia-telangiectasia, Autosomal recessive;Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3)	2	1502	18	0	0	18	0.00595632	.	.	YES	132819	Breast_and/or_ovarian_cancer|Malignant_tumor_of_breast|ATM-related_cancer_predisposition|Ataxia-telangiectasia_syndrome|not_provided|Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:CN221562|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0700270,MedGen:CN377759|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,Orphanet:100|MedGen:C3661900|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.874	0.439558008784	0.0003	0.000599042	0.0012	0.0002	0.0003	0	0	0.0007	0.0022	0.0057	0.0011125	172	154602	rs139552233	0.0008	0.0008	0.0007	0.0009	0.0050	0.0008	0.0008	0.0046	0.0044	0.0002	0.0002	7.654e-05	0	0	0.0017	0.0006	0.0012	0.0050	0.0004	0.0004	0.0004	0.0005	0.0035	0.0004	0.0003	0.0022	0.0018	7.221e-05	0	0.0003	0	0	0	0	0.0006	0.0019	0.0035	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.000001	0.62929	D	0.102849	0.998516	0.45021	D	2.83	0.82355	M	-0.81	0.73949	T	-2.69	0.58248	D	0.943	0.95021	0.201	0.85916	D	0.569	0.84368	D	10	0.03129506	0.01263	T	0.439558	0.94138	D	0.874	0.96243	.	.	0.948311976186	0.94776	0.6075241820053727	0.60684	0.523745419462	0.50081	0.40658468008	0.25985	T	0.158256	0.50120	T	0.0625134	0.59927	T	0.317973	0.89005	D	0.120116724385006	0.14441	T	0.79772	0.55771	T	0.7786302	0.82570	0.6004758	0.76789	0.81016994	0.84566	0.6295642	0.78395	-5.935	0.45733	T	0.3684974576213956	0.46427	0.650	0.70913	P	.;.;.	.;.;.	4.471605	0.69679	25.4	0.99890320250132414	0.96436	0.98765	0.86563	D	AEFBI	0.805720	0.73023	D	0.739625117531926	0.82229	7.711089	0.719132624524002	0.83831	8.126331	0.990771903259458	0.32265	0.732398	0.92422	0	0.743671	0.97443	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.5	5.5	0.81386	6.399000	0.73172	6.095000	0.53488	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.892	0.79091	144	0.94257	.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.011364	0.05263	4018.83	48	chr11	108271261	.	T	C	4018.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.96;DP=1009;ExcessHet=0.119;FS=1.857;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.59;SOR=0.812	GT:AD:DP:GQ:PL	0/1:80,68:148:99:1965,0,2075	17	0	2	0
chr11	117395553	117395553	A	G	exonic	CEP164	.	nonsynonymous SNV	CEP164:NM_001271933:exon23:c.A2929G:p.T977A,CEP164:NM_014956:exon24:c.A2920G:p.T974A	Nephronophthisis 15, Autosomal recessive	9	1508	4	1	0	6	0.00198544	.	.	.	692932	Inborn_genetic_diseases|Nephronophthisis_15|CEP164-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013917,MedGen:C3541853,OMIM:614845,Orphanet:3156|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.041	0.00498841053456	7.7e-05	0.000199681	0.0006	9.923e-05	0.0011	0	0	0.0006	0.0012	0.0014	0.0004916	76	154602	rs56699807	0.0003	0.0003	0.0003	0.0003	0.0020	0.0003	0.0003	0.0011	0.0010	0	0.0005	0.0051	0	0	0.0020	0.0001	0.0008	0.0013	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0001	0.0007	0.0005	0	0.0033	0	0.0035	0	0	0	0.0002	0.0005	0.0015	0.251	0.17069	T	0.726	0.05238	T	0.006	0.13644	B	0.007	0.12992	B	0.074262	0.21295	N	0.401465	0.975441	0.25433	N	1.445	0.36358	L	1.58	0.29085	T	-1.83	0.42957	N	0.115	0.10340	-0.9818	0.34585	T	0.039	0.16763	T	10	0.003809005	0.00071	T	0.004988	0.12598	T	0.041	0.10877	.	.	0.215109475489	0.21095	0.0549747269844219	0.05438	0.109687935523	0.12372	0.266483128071	0.05687	T	0.017784	0.14448	T	-0.51244	0.00486	T	-0.549394	0.17385	T	0.0127579495750176	0.00216	T	0.505249	0.15946	T	0.035905503	0.04316	0.050819375	0.08053	0.035905503	0.04316	0.050819375	0.08052	-4.332	0.28623	T	0.1247343933027776	0.12288	0.074	0.05188	B	.	.	0.901971	0.12757	9.278	0.92089860702772075	0.21439	0.09356	0.15128	N	AEFDBI	0.029851	0.02894	N	-0.88038738340894	0.11310	0.5451213	-0.810588600920957	0.14239	0.7429851	0.592623135732885	0.21659	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.02	-2.3	0.06399	0.159000	0.16258	0.088000	0.14478	0.691000	0.84096	0.088000	0.22533	0.000000	0.08366	0.892000	0.42986	0.3931:0.0:0.6069:0.0	11.116	0.47484	788	0.46569	.	.	.	.	.	.	Likely benign	0	0	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	0.001512	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1585.33	36	chr11	117395553	.	A	G	1585.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.159;DP=806;ExcessHet=0;FS=2.847;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=0.713;SOR=0.951	GT:AD:DP:GQ:PL	0/1:89,71:160:99:1599,0,2278	18	0	1	0
chr11	117428539	117428539	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_020693:exon33:c.C5951T:p.A1984V	.	467	1051	4	0	0	4	0.00189934	.	.	.	1870606	DSCAML1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.466210098701	.	.	0.0006	0	0	0	0	0.0006	0	0.0008	0.0001358	21	154602	rs760492346	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.258e-05	0.0002	0	0	4.263e-05	0.0025	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	8.076e-05	0.0004	9.16e-05	7.713e-05	0.0001	7.908e-05	2.412e-05	0	0.0001	0	0	0	0.0068	0.0002	0.0009	0.0004	0.177	0.22746	T	0.181	0.31026	T	.	.	.	.	.	.	.	.	.	.	0.975909	0.39229	D	.	.	.	-0.01	0.63403	T	-1.05	0.29525	N	0.246	0.32148	-0.9537	0.40327	T	0.124	0.42673	T	9	0.09348783	0.16549	T	0.46621	0.94600	D	0.158	0.41098	.	.	0.619695279946	0.61661	0.27005283642960815	0.26918	0.00832187510535	0.00754	0.86537539959	0.91901	D	.	.	.	-0.0113619	0.50076	T	-0.254097	0.49413	T	0.0852401710544109	0.10644	T	0.814619	0.46840	T	.	.	.	.	.	.	.	.	-5.406	0.40977	T	.	.	0.147	0.32469	B	.;.	.;.	3.530975	0.49542	22.8	0.99579486933977424	0.72921	0.98155	0.80075	D	AEFBI	0.758398	0.69705	D	-0.202927074104933	0.33014	1.868289	-0.0723673569025499	0.36538	2.127603	0.889404668155575	0.25812	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.8	3.85	0.43556	6.360000	0.73005	9.516000	0.80927	0.484000	0.22197	0.981000	0.35396	1.000000	0.68203	0.970000	0.54328	0.0:0.1501:0.8499:0.0	14.321	0.66044	848	0.35897	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002309	0.000000	0.001524	0.006452	0.000000	0.000000	0.000000	0.000000	0.07895	706.98	18	chr11	117428539	.	G	A	706.98	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.545;DP=266;ExcessHet=0;FS=1.342;InbreedingCoeff=0.5996;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.372;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,12:28:99:.:.:291,0,482:.	17	1	1	0
chr11	124265668	124265668	C	T	exonic	OR8G5	.	nonsynonymous SNV	OR8G5:NM_001005198:exon2:c.C737T:p.S246L	.	426	1011	84	1	0	86	0.040797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026877241706	.	.	2.483e-05	0	0	0	0	4.495e-05	0	0	3.84e-05	1	26028	rs781035719	3.119e-05	0.0042	2.482e-05	3.764e-05	0.0002	2.378e-05	2.123e-05	0.0001	7.347e-05	3.014e-05	4.633e-05	0	0.0002	1.904e-05	0.0002	2.638e-05	3.354e-05	1.18e-05	2.631e-05	0.0001	0	5.386e-05	0.0004	8.15e-06	5.14e-06	6.842e-05	2.863e-05	2.415e-05	0	0	0	0.0004	9.432e-05	0	0	0	0	.	.	.	0.338	0.18125	T	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.835	0.01514	N	.	.	.	.	.	.	0.072	0.04547	.	.	.	.	.	.	.	0.03151378	0.01287	T	0.002688	0.05521	T	.	.	.	.	0.043077524339	0.03247	0.09648603687337697	0.09580	0.10428141844	0.11793	.	.	.	0.001883	0.01299	T	-0.352944	0.04545	T	-0.519055	0.20390	T	.	.	.	0.581942	0.21082	T	0.07538201	0.16979	0.19969355	0.43863	0.07538201	0.16979	0.19969355	0.43862	-1.584	0.01945	T	.	.	0.059	0.00742	B	.;.;.	.;.;.	-0.217402	0.03003	0.454	0.81041737269415304	0.13491	0.01391	0.04726	N	AEFI	0.033296	0.03920	N	.	.	.	.	.	.	0.00400774281811979	0.10376	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.22	-7.67	0.01133	-1.073000	0.03541	.	.	-1.080000	0.01570	0.000000	0.06391	0.000000	0.08366	0.406000	0.26916	0.0:0.2669:0.1005:0.6326	10.388	0.43335	745	0.52414	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2646.33	188	chr11	124265668	.	C	T	2646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.901;DP=2057;ExcessHet=0;FS=6.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.48;MQRankSum=-3.435;QD=13.86;ReadPosRankSum=0.626;SOR=0.516	GT:AD:DP:GQ:PL	0/1:92,99:191:99:2660,0,2332	18	0	1	0
chr11	124880557	124880557	T	0	exonic	ROBO3	.	.	.	Gaze palsy, horizontal, with progressive scoliosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	617.37	33	chr11	124880557	.	T	*	617.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=0.477;DP=833;ExcessHet=0.5777;FS=0.528;InbreedingCoeff=0.1044;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.37;ReadPosRankSum=-1.898;SOR=0.749	GT:AD:DP:GQ:PL	0/1:31,19:50:99:704,0,1239	11	2	6	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	0.02632	863.33	34	chr11	124887133	.	G	A	863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=726;ExcessHet=0;FS=1.898;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=-0.869;SOR=0.446	GT:AD:DP:GQ:PL	0/1:47,32:79:99:877,0,1278	18	0	1	0
chr11	129854610	129854610	G	A	exonic	TMEM45B	.	nonsynonymous SNV	TMEM45B:NM_138788:exon3:c.G179A:p.G60E,TMEM45B:NM_001331210:exon4:c.G179A:p.G60E,TMEM45B:NM_001331211:exon4:c.G179A:p.G60E,TMEM45B:NM_001331212:exon4:c.G179A:p.G60E	.	.	.	.	.	.	.	.	0.9991	0.846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.702	0.124337635202	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1232861181	2.736e-06	2.736e-06	4.084e-06	1.375e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	1.656e-05	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046717	1	0.81001	D	3.47	0.92451	M	1.32	0.35219	T	-7.62	0.95394	D	0.992	0.99822	-0.3860	0.72466	T	0.305	0.67556	T	9	0.97791636	0.97644	D	0.124338	0.80566	D	0.702	0.89284	0.815	0.92992	0.543342094247	0.53989	0.961158136286585	0.96101	0.608687669881	0.55635	0.652977108955	0.60409	T	0.233814	0.60070	T	0.304493	0.83321	D	0.199606	0.83105	D	0.997770428657532	0.92389	D	0.842016	0.51794	T	0.93754303	0.94997	0.9509813	0.98458	0.93754303	0.94997	0.9509813	0.98459	-10.484	0.76755	D	.	.	0.969	0.89285	P	.;.	.;.	5.678672	0.92983	33	0.9967464453149254	0.78846	0.97365	0.74289	D	AEFDGBHCI	0.975090	0.99598	D	0.877138078766484	0.90594	10.47614	0.784118498345224	0.88668	9.669242	1.0	0.98316	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.8	5.8	0.92081	9.602000	0.97623	11.829000	0.97466	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	18.623	0.91283	835	0.38313	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1147.33	37	chr11	129854610	.	G	A	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.987;DP=761;ExcessHet=0;FS=2.151;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.72;ReadPosRankSum=-0.897;SOR=0.407	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1161,0,787	18	0	1	0
chr11	134157939	134157939	G	A	exonic	NCAPD3	.	nonsynonymous SNV	NCAPD3:NM_001372069:exon30:c.C3749T:p.T1250M,NCAPD3:NM_001372065:exon31:c.C4163T:p.T1388M,NCAPD3:NM_001372068:exon31:c.C4163T:p.T1388M,NCAPD3:NM_015261:exon31:c.C4163T:p.T1388M,NCAPD3:NM_001372070:exon33:c.C3749T:p.T1250M	.	429	1091	2	0	0	2	0.000915751	.	.	.	701670	Intellectual_disability|not_provided	Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.058	.	0.0038	0.00419329	0.0013	0.0125	0.0012	0	0	0.0002	0.0033	0	0.001326	205	154602	rs116394634	0.0006	0.0006	0.0006	0.0005	0.0138	0.0005	0.0005	0.0127	0.0123	0.0138	0.0017	0	2.519e-05	0	0.0021	0.0002	0.0014	2.319e-05	0.0043	0.0043	0.0045	0.0041	0.0145	0.0040	0.0039	0.0136	0.0132	0.0145	0	0.0021	0	0	0	0.0034	0.0001	0.0024	0	0.091	0.31834	T	0.151	0.32355	T	0.032	0.20242	B	0.009	0.14300	B	0.090091	0.02445	N	1.841410	1	0.08975	N	0.84	0.21119	L	1.53	0.30401	T	-1.32	0.32991	N	0.085	0.06190	-1.0532	0.13520	T	0.030	0.12848	T	10	0.0038155615	0.00072	T	.	.	.	0.058	0.16647	.	.	0.16115917748	0.15686	0.3398109754759084	0.33894	0.0785156412576	0.08831	0.230115830898	0.01976	T	0.011595	0.10324	T	-0.673952	0.00052	T	-0.729186	0.04364	T	0.00297329997948987	0.00031	T	0.469153	0.13854	T	0.011384243	0.00016	0.020727858	0.00152	0.017402967	0.00270	0.023494909	0.00362	-4.511	0.31032	T	.	.	0.084	0.09578	B	.	.	0.624142	0.09926	6.684	0.90880582406056376	0.20129	0.05551	0.11447	N	AEFBI	0.046851	0.07824	N	-1.20133559881908	0.04981	0.2260248	-1.31744509742699	0.04205	0.1978335	0.717583744177064	0.22893	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.645665	0.59343	0	.	.	3.99	-5.24	0.02576	0.084000	0.14738	0.325000	0.17225	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2792:0.3818:0.2094:0.1296	1.860	0.02994	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	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	0.004028	0.005051	0.009511	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1129.33	35	chr11	134157939	.	G	A	1129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.963;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.12;ReadPosRankSum=-1.801;SOR=0.683	GT:AD:DP:GQ:PL	0/1:84,55:139:99:1143,0,2012	18	0	1	0
chr12	309870	309870	T	C	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon22:c.A3311G:p.D1104G	.	5	1503	14	0	0	14	0.00463576	.	.	.	753324	KDM5A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.334	.	0.0002	0.00259585	0.0017	0	0.0011	0	0	0.0003	0.0011	0.0107	0.0014489	224	154602	rs201344078	0.0009	0.0009	0.0006	0.0012	0.0112	0.0009	0.0008	0.0106	0.0103	2.99e-05	0.0008	3.827e-05	0	0	0.0012	0.0002	0.0010	0.0112	0.0006	0.0006	0.0004	0.0007	0.0118	0.0005	0.0004	0.0094	0.0085	7.215e-05	0	0.0010	0	0	0	0	0.0002	0	0.0118	0.192	0.20988	T	0.447	0.13066	T	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.047953	0.999981	0.54805	D	0.255	0.09829	N	-1.92	0.84773	D	0.02	0.06739	N	0.339	0.38027	-0.3782	0.72708	T	0.444	0.78124	T	10	0.007944077	0.00180	T	.	.	.	0.334	0.65620	.	.	0.206203607746	0.20212	0.5532631801951152	0.55252	0.239666914259	0.26511	0.492004603148	0.37716	T	0.140279	0.47474	T	-0.351601	0.04627	T	-0.268432	0.47978	T	0.0242367315862672	0.01174	T	0.840516	0.51562	T	0.20029108	0.41999	0.18359748	0.41359	0.20029108	0.41999	0.18359748	0.41358	-4.002	0.23834	T	.	.	0.096	0.15475	B	.	.	3.159092	0.42797	21.6	0.98882147109117824	0.47841	0.91016	0.52696	D	AEFBI	0.349626	0.44335	N	-0.028904609364582	0.40549	2.410021	0.182922526094968	0.48911	3.100887	0.839289507017523	0.24836	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.92	5.92	0.95557	3.970000	0.56530	7.880000	0.72453	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:0.0:1.0	16.353	0.83053	862	0.33134	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.004028	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.011364	0.02632	376.33	37	chr12	309870	.	T	C	376.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.283;DP=671;ExcessHet=0;FS=4.02;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.38;ReadPosRankSum=1.93;SOR=0.721	GT:AD:DP:GQ:PL	0/1:33,18:51:99:390,0,836	18	0	1	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,38:97:99:.:.:438,0,920:.	5	0	14	0
chr12	4627595	4627595	G	A	exonic	AKAP3	.	nonsynonymous SNV	AKAP3:NM_001278309:exon5:c.C1307T:p.S436F,AKAP3:NM_006422:exon5:c.C1307T:p.S436F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00740680652114	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	5.974e-05	2.3e-07	9e-08	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.035	0.52389	D	0.918	0.50838	P	0.606	0.50970	P	0.587794	0.11079	N	0.809804	1	0.08975	N	2.39	0.68882	M	3.18	0.07478	T	-2.03	0.46673	N	0.147	0.17553	-1.0560	0.12776	T	0.040	0.17191	T	10	0.1535809	0.28987	T	0.007407	0.19657	T	0.074	0.21613	0.408	0.44230	0.413891365518	0.41003	0.07674404711919186	0.07610	0.430453523521	0.43287	0.303099751472	0.10864	T	0.019031	0.15236	T	-0.229191	0.16757	T	-0.566994	0.15726	T	0.483978062868118	0.32043	T	0.542646	0.18460	T	0.092072114	0.21592	0.16817556	0.38757	0.092072114	0.21591	0.16817556	0.38756	-4.406	0.29638	T	.	.	0.131	0.33710	B	.;.	.;.	2.776924	0.36468	20.3	0.99542652153196576	0.70586	0.08606	0.14512	N	AEFBI	0.112028	0.22159	N	-0.243498262190187	0.31363	1.757863	-0.404001304772486	0.24880	1.364929	0.00199923207236591	0.09070	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.77	2.91	0.32903	2.070000	0.41116	4.210000	0.42525	0.676000	0.76740	0.014000	0.18986	0.915000	0.28207	0.021000	0.11733	0.0:0.4287:0.5713:0.0	14.330	0.66109	680	0.59965	A-kinase anchor 110kDa, C-terminal;A-kinase anchor 110kDa, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2180.33	185	chr12	4627595	.	G	A	2180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.492;DP=2538;ExcessHet=0;FS=0.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-2.02;SOR=0.772	GT:AD:DP:GQ:PL	0/1:82,81:163:99:2194,0,2241	18	0	1	0
chr12	9154819	9154819	G	A	exonic	PZP	.	nonsynonymous SNV	PZP:NM_002864:exon29:c.C3571T:p.R1191C	.	1	1511	10	0	0	10	0.00329815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.00357266979921	0.0022	0.00179712	0.0029	0.0007	0.0032	0	0.0011	0.0038	0.0045	0.0021	0.002749	425	154602	rs145625112	0.0034	0.0034	0.0033	0.0034	0.0038	0.0033	0.0033	0.0037	0.0036	0.0005	0.0030	0.0067	0	0.0008	0.0012	0.0038	0.0033	0.0021	0.0026	0.0026	0.0028	0.0024	0.0040	0.0024	0.0023	0.0036	0.0034	0.0006	0	0.0032	0.0075	0	0.0004	0	0.0040	0.0038	0.0027	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.012174	0.29266	U	0.222293	1	0.08975	N	4.005	0.96783	H	1.31	0.35405	T	-7.61	0.95366	D	0.542	0.56919	-0.8189	0.54003	T	0.218	0.58111	T	10	0.01669702	0.00353	T	0.003573	0.08154	T	0.166	0.42578	.	.	0.162503812791	0.15892	0.30640066940447686	0.30553	0.533759741714	0.50804	0.342216551304	0.16769	T	0.353768	0.72101	T	-0.331361	0.06009	T	-0.24991	0.49825	T	0.155111200827197	0.17503	T	0.941906	0.78301	D	0.66970235	0.76417	0.45429766	0.68268	0.66970235	0.76418	0.45429766	0.68269	-7.479	0.57463	T	.	.	0.307	0.53541	B	.	.	1.741367	0.22157	15.50	0.9823708541078443	0.39449	0.10431	0.15940	N	AEFBI	0.313559	0.41868	N	-0.649306905720522	0.17480	0.8998794	-1.01634618642579	0.09426	0.4688754	0.00166513199779651	0.08760	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.03	-3.69	0.04162	0.450000	0.21475	-4.384000	0.02184	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.2039:0.0834:0.3408:0.3719	2.337	0.03989	631	0.64944	Alpha-macroglobulin complement component	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.004076	0.000000	0.050000	0.000000	0.000000	0.000000	0.02632	1224.33	42	chr12	9154819	.	G	A	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.257;DP=793;ExcessHet=0;FS=2.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-2.182;SOR=0.428	GT:AD:DP:GQ:PL	0/1:41,50:91:99:1238,0,1076	18	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	.	.	.	.	.	.	.	.	0.05263	1330.94	115	chr12	11308825	.	G	T	1330.94	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.958;DP=3795;ExcessHet=0.119;FS=2.05;InbreedingCoeff=-0.0547;MLEAC=2;MLEAF=0.053;MQ=58.37;MQRankSum=-5.993;QD=2.1;ReadPosRankSum=-5.845;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,54:317:99:0|1:11308808_C_T:1337,0,10260:11308808	17	0	2	0
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15923.7	37	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	15923.7	.	AC=6;AF=0.25;AN=24;BaseQRankSum=1.66;DP=4060;ExcessHet=0;FS=2.46;InbreedingCoeff=0.6232;MLEAC=7;MLEAF=0.292;MQ=54.21;MQRankSum=-1.359;QD=17.21;ReadPosRankSum=0.621;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:157,82:239:99:.:.:1869,0,193:.	8	2	2	7
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3102.82	96	chr12	12477735	.	C	*	3102.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=2.45;DP=1056;ExcessHet=0.3441;FS=2.515;InbreedingCoeff=0.1244;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=6.24;ReadPosRankSum=2.14;SOR=0.519	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,36:71:99:.:.:1396,0,1359:.	14	0	5	0
chr12	26122310	26122318	GCGGCTGCC	-	exonic	BHLHE41	.	nonframeshift deletion	BHLHE41:NM_030762:exon5:c.1197_1205del:p.A409_A411del	.	339	1176	5	0	2	7	0.00212134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs917726348	0.0004	0.0004	0.0004	0.0005	0.0042	0.0004	0.0004	0.0023	0.0020	0.0009	0.0003	0	0.0003	0.0012	0.0042	0.0004	0.0007	0.0028	0.0006	0.0006	0.0004	0.0008	0.0039	0.0005	0.0005	0.0025	0.0021	0.0005	0	6.727e-05	0	0.0002	0.0018	0	0.0004	0.0015	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	403.31	12	chr12	26122309	.	GGCGGCTGCC	G	403.31	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.573;DP=360;ExcessHet=0;FS=10.02;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.54;ReadPosRankSum=1.51;SOR=1.681	GT:AD:DP:GQ:PL	0/1:12,11:23:99:417,0,470	18	0	1	0
chr12	26924476	26924476	G	A	exonic	INTS13	.	nonsynonymous SNV	INTS13:NM_018164:exon7:c.C683T:p.P228L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	.	0.00539137	0.0017	0	0.0003	0	0	6.002e-05	0	0.0118	0.0015653	242	154602	rs141454244	0.0008	0.0008	0.0005	0.0011	0.0116	0.0007	0.0007	0.0110	0.0108	0.0001	0.0003	3.88e-05	0	1.889e-05	0.0003	5.974e-05	0.0009	0.0116	0.0006	0.0006	0.0003	0.0009	0.0170	0.0005	0.0005	0.0140	0.0129	0	0	0.0002	0	0	0	0	7.353e-05	0	0.0170	0.003	0.68238	D	0.005	0.72224	D	0.002	0.09854	B	0.005	0.11217	B	0.000270	0.46590	N	0.227351	1	0.81001	D	.	.	.	0.66	0.52416	T	-5.25	0.84035	D	0.461	0.49783	-0.9620	0.38800	T	0.093	0.35390	T	10	0.009493709	0.00214	T	.	.	.	0.365	0.68495	.	.	0.358880540497	0.35496	0.47108611570428666	0.47027	0.845994449431	0.68302	0.764332532883	0.76575	T	0.239261	0.60734	T	-0.199083	0.20936	T	-0.04935	0.67067	D	0.0951708162838193	0.11817	T	0.90321	0.66112	D	0.43772653	0.63255	0.38329202	0.63296	0.43772653	0.63256	0.38329202	0.63296	-5.973	0.46053	T	.	.	0.127	0.26886	B	.	.	4.886625	0.80198	27.3	0.99556650337924624	0.71521	0.97670	0.76297	D	AEFBI	0.608182	0.59786	D	0.08144624592982	0.45598	2.813647	0.232288660707174	0.51649	3.345508	0.999940533145374	0.47345	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	4.75	0.59954	7.127000	0.76822	9.972000	0.82868	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0708:0.0:0.7884:0.1408	9.642	0.39011	825	0.40060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	603.33	33	chr12	26924476	.	G	A	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.471;DP=659;ExcessHet=0;FS=4.821;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=0.511;SOR=0.243	GT:AD:DP:GQ:PL	0/1:16,24:40:99:617,0,412	18	0	1	0
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I,FAR2:NM_001271783:exon7:c.C839T:p.T280I,FAR2:NM_018099:exon7:c.C839T:p.T280I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	268.86	33	chr12	29311098	.	C	T	268.86	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.443;DP=1160;ExcessHet=0.119;FS=96.088;InbreedingCoeff=-0.0567;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.38;SOR=8.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,20:132:99:0|1:29311098_C_T:135,0,4286:29311098	17	0	2	0
chr12	32337660	32337660	G	A	exonic	BICD1	.	nonsynonymous SNV	BICD1:NM_001003398:exon7:c.G2414A:p.R805Q,BICD1:NM_001354186:exon7:c.G2414A:p.R805Q,BICD1:NM_001354187:exon7:c.G2414A:p.R805Q,BICD1:NM_001354188:exon7:c.G2414A:p.R805Q,BICD1:NM_001363603:exon7:c.G2414A:p.R805Q,BICD1:NM_001714:exon7:c.G2414A:p.R805Q	.	.	.	.	.	.	.	.	.	.	.	3636645	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.00524244404567	7.7e-05	.	2.472e-05	0.0002	0	0	0	0	0	6.056e-05	1.94e-05	3	154602	rs367674204	2.736e-06	2.736e-06	4.084e-06	1.375e-06	5.974e-05	6.4e-07	4.3e-07	9.89e-06	3.7e-06	5.974e-05	0	0	0	0	0	8.993e-07	0	1.159e-05	1.972e-05	1.97e-05	3.856e-05	0	6.55e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	6.55e-05	0	0	0	0	2.94e-05	0	0	0.022	0.52492	D	0.083	0.41405	T	0.964	0.55854	D	0.248	0.38946	B	0.000184	0.48115	D	0.089128	0.690389	0.33321	D	0	0.06538	N	0.87	0.47815	T	-1.38	0.37178	N	0.379	0.42050	-1.0436	0.16236	T	0.067	0.27606	T	10	0.1684492	0.31397	T	0.005242	0.13371	T	0.156	0.40720	.	.	0.532842626647	0.52932	.	.	0.734144264085	0.62878	0.469382792711	0.34595	T	0.070806	0.34050	T	-0.220109	0.17978	T	-0.317279	0.42874	T	0.334446452626872	0.26403	T	0.947905	0.79907	D	0.257315	0.48775	0.13459785	0.32248	0.257315	0.48775	0.13459785	0.32247	-5.447	0.50116	T	.	.	0.107	0.22825	B	.;.	.;.	4.805036	0.78109	26.8	0.99914224565701548	0.98309	0.92233	0.55243	D	AEFDBI	0.431801	0.49394	N	0.166239249764029	0.49583	3.157115	0.292958335653429	0.55128	3.676129	0.988863275609977	0.31652	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.66	4.66	0.57857	5.647000	0.67597	11.683000	0.94248	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.753	0.88349	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	.	.	.	.	.	.	.	.	0.02632	2986.33	33	chr12	32337660	.	G	A	2986.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.67;DP=913;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=-1.505;SOR=0.694	GT:AD:DP:GQ:PL	0/1:135,122:257:99:3000,0,3137	18	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	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,29:70:99:.:.:113,0,607:.	2	0	16	1
chr12	40328429	40328429	A	G	exonic	LRRK2	.	nonsynonymous SNV	LRRK2:NM_198578:exon39:c.A5726G:p.N1909S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.0903924927806	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200182753	6.845e-07	6.84e-07	1.362e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.18562	T	0.009	0.66756	D	0.242	0.30930	B	0.16	0.34752	B	0.000000	0.84330	D	0.084929	0.999951	0.52396	D	0.825	0.20901	L	-3.17	0.93054	D	-1.49	0.36385	N	0.765	0.76296	0.310	0.87717	D	0.700	0.89664	D	10	0.61738837	0.67783	D	0.090392	0.75509	D	0.436	0.74093	0.462	0.53079	0.952707185244	0.95221	0.515939517947142	0.51516	1.45932965126	0.86315	0.555420517921	0.46621	T	0.128852	0.45676	T	0.0440929	0.57579	T	-0.17444	0.57035	T	0.955271303653717	0.64467	D	0.910509	0.68253	D	0.29308987	0.52279	0.1880252	0.42068	0.29308987	0.52278	0.1880252	0.42067	-4.778	0.34333	T	0.5676221135665342	0.63498	0.119	0.24599	B	.	.	2.960448	0.39422	21.0	0.99839569862030675	0.92057	0.98533	0.83799	D	AEI	0.908374	0.86362	D	0.120495906097537	0.47420	2.967933	0.273463118905185	0.53993	3.565954	0.999358126494588	0.39259	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.06	5.06	0.67838	7.776000	0.84252	9.178000	0.79066	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.973	0.70901	788	0.46569	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2575.33	34	chr12	40328429	.	A	G	2575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.089;DP=838;ExcessHet=0;FS=0.503;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=1.09;SOR=0.739	GT:AD:DP:GQ:PL	0/1:102,109:211:99:2589,0,2418	18	0	1	0
chr12	40440574	40440574	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	450	193	446	429	4	1308	0.771598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0	0.0087	0	0	0	0.0003	4.53e-05	7	154602	rs10878592	0.0002	0.0002	0.0002	0.0002	0.0131	0.0002	0.0002	0.0115	0.0109	0	0	0.0001	0.0131	0	0.0002	2.177e-05	0.0004	0.0002	0.0005	0.0005	0.0005	0.0005	0.0132	0.0004	0.0004	0.0107	0.0097	0	0	0	0.0003	0.0132	0	0	7.355e-05	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	29295.2	84	chr12	40440574	.	C	T	29295.2	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.1;DP=1731;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.5;ReadPosRankSum=0.047;SOR=0.679	GT:AD:DP:GQ:PL	0/1:33,54:87:99:1391,0,758	18	0	1	0
chr12	40514434	40514434	C	T	exonic	MUC19	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1251769254	0	1.271e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.97e-05	1.97e-05	2.568e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	0	0	0.0002	0	0	1.469e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	639.33	142	chr12	40514434	.	C	T	639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.4;DP=2269;ExcessHet=0;FS=0.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.69;ReadPosRankSum=0.805;SOR=0.875	GT:AD:DP:GQ:PL	0/1:38,28:66:99:653,0,861	18	0	1	0
chr12	48858093	48858093	C	T	exonic	RND1	.	nonsynonymous SNV	RND1:NM_014470:exon5:c.G602A:p.R201Q	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.024811472661	0.0002	0.000199681	0.0003	0	0.0004	0	0	0.0005	0	0	0.0002717	42	154602	rs200101480	0.0002	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	8.961e-05	0.0007	0.0010	0	0	0.0026	0.0002	0.0004	0.0001	0.0002	0.0002	0.0002	0.0003	0.0005	0.0002	0.0001	0.0002	0.0002	7.217e-05	0	0.0005	0.0012	0	0	0.0068	0.0002	0.0009	0	0.175	0.22486	T	0.13	0.34716	T	0.994	0.66517	D	0.885	0.62825	P	0.031446	0.25166	N	0.425376	0.999998	0.58761	D	1.345	0.33447	L	3.05	0.37910	T	-1.63	0.39119	N	0.084	0.06059	-1.0045	0.28607	T	0.142	0.46220	T	10	0.07324538	0.11041	T	0.024811	0.47795	T	0.072	0.21020	.	.	0.601498174721	0.59831	0.5069374478026153	0.50615	1.5613591084	0.88044	0.421754091978	0.28078	T	0.088845	0.38246	T	-0.350869	0.04673	T	-0.379865	0.35738	T	0.135527089238167	0.15884	T	0.941106	0.78031	D	0.15576388	0.35186	0.096693255	0.22984	0.15576388	0.35186	0.096693255	0.22983	-5.818	0.44731	T	.	.	0.140	0.31048	B	.;.	.;.	4.316955	0.66033	24.9	0.99718965297854045	0.81914	0.90454	0.51643	D	AEFBHCI	0.600596	0.59317	D	0.362796012206355	0.59418	4.121098	0.363501344984016	0.59324	4.109404	0.99997596485433	0.50053	0.631515	0.41029	0	0.659037	0.61890	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.1	4.19	0.48645	3.341000	0.51869	4.013000	0.41180	0.599000	0.40250	0.991000	0.37257	0.999000	0.35428	0.997000	0.79791	0.1492:0.8508:0.0:0.0	14.426	0.66788	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	0.002518	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1348.33	35	chr12	48858093	.	C	T	1348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-1.602;SOR=0.645	GT:AD:DP:GQ:PL	0/1:79,52:131:99:1362,0,1893	18	0	1	0
chr12	49524718	49524718	G	A	exonic	SPATS2	.	nonsynonymous SNV	SPATS2:NM_001293286:exon12:c.G1148A:p.R383Q,SPATS2:NM_023071:exon13:c.G1148A:p.R383Q,SPATS2:NM_001293285:exon14:c.G1148A:p.R383Q	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00375207458265	0.0048	0.00359425	0.0039	0.0044	0.0042	0	0.0050	0.0047	0.0088	0.0011	0.0038033	588	154602	rs143789908	0.0048	0.0048	0.0049	0.0047	0.0052	0.0047	0.0047	0.0051	0.0051	0.0044	0.0042	0.0088	2.519e-05	0.0046	0.0017	0.0052	0.0052	0.0011	0.0051	0.0051	0.0050	0.0052	0.0077	0.0048	0.0047	0.0066	0.0062	0.0047	0.0219	0.0077	0.0075	0	0.0035	0.0034	0.0052	0.0099	0.0008	0.36	0.11919	T	0.261	0.22962	T	0.96	0.55278	D	0.44	0.45726	B	0.000388	0.44960	D	0.234543	0.999751	0.48800	D	2.28	0.64929	M	.	.	.	-0.64	0.18670	N	0.429	0.47580	-0.9193	0.45648	T	0.155	0.48687	T	9	0.009613633	0.00216	T	0.003752	0.08713	T	0.137	0.36984	.	.	0.21174354426	0.20776	0.5445009463868015	0.54376	0.741676481554	0.63296	0.362670600414	0.19775	T	0.117906	0.43834	T	-0.283765	0.10272	T	-0.177356	0.56766	T	0.0314926761147349	0.02225	T	0.738026	0.35555	T	0.09563661	0.22512	0.056884747	0.10243	0.09563661	0.22512	0.056884747	0.10243	-4.718	0.33622	T	.	.	0.126	0.29116	B	.;.;.	.;.;.	3.642353	0.51655	23.1	0.99893835046291779	0.96742	0.93326	0.57918	D	AEFBI	0.351520	0.44460	N	0.310861000883812	0.56706	3.835724	0.344151318560756	0.58157	3.984571	0.658066638782078	0.22240	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.51	4.62	0.56946	4.672000	0.61290	6.651000	0.56216	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.998000	0.85391	0.0825:0.0:0.9175:0.0	12.261	0.53966	170	0.93412	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1488.33	33	chr12	49524718	.	G	A	1488.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=726;ExcessHet=0;FS=2.623;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-1.622;SOR=1.007	GT:AD:DP:GQ:PL	0/1:45,55:100:99:1502,0,1062	18	0	1	0
chr12	52792325	52792325	C	A	exonic	KRT3	.	nonsynonymous SNV	KRT3:NM_057088:exon5:c.G1102T:p.D368Y	Meesmann corneal dystrophy, Autosomal dominant	1	1512	7	2	0	11	0.00362438	.	.	.	2332417	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.646	0.0262360365516	0.0002	.	0.0003	0	0.0010	0	0	0.0003	0	0	0.0002135	33	154602	rs200059777	9.373e-05	9.44e-05	9.666e-05	9.076e-05	0.0014	8.093e-05	7.585e-05	0.0011	0.0010	5.974e-05	0.0014	0.0005	0	0	0.0009	3.058e-05	0.0003	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.233e-05	0.0001	8.877e-05	7.216e-05	0	0.0003	0.0006	0	9.416e-05	0	0.0002	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.007105	0.31595	N	0.144773	0.938243	0.37219	D	4.695	0.99465	H	-1.3	0.79571	T	-8.17	0.96779	D	0.725	0.72656	0.860	0.95149	D	0.769	0.92157	D	10	0.81367195	0.80626	D	0.026236	0.49161	D	0.646	0.86586	.	.	0.984891002207	0.98472	0.4181440622618213	0.41730	0.667375979428	0.59248	0.367967605591	0.20540	T	0.691204	0.91023	D	-0.0732956	0.40798	T	0.0814063	0.75672	D	0.838972747325897	0.49244	D	0.868113	0.56980	D	0.93376225	0.94615	0.9206008	0.96441	0.93376225	0.94616	0.9206008	0.96441	-14.408	0.94307	D	.	.	0.498	0.64500	A	.	.	4.435260	0.68814	25.3	0.99497020787487134	0.67801	0.93226	0.57654	D	AEFDGBI	0.693550	0.65284	D	0.755262770666792	0.83247	7.967692	0.617638328680063	0.76221	6.451108	0.941717268445494	0.27490	0.486886	0.10167	0	0.586423	0.34054	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.51	3.59	0.40253	2.044000	0.40863	.	.	0.549000	0.26987	1.000000	0.71638	0.797000	0.26915	0.905000	0.44082	0.0:0.9175:0.0:0.0825	13.453	0.60632	572	0.70300	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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1331.33	164	chr12	52792325	.	C	A	1331.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.174;DP=1844;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=-1.168;SOR=0.655	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1345,0,1311	18	0	1	0
chr12	53059230	53059230	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon18:c.G1619A:p.R540Q,TNS2:NM_170754:exon18:c.G1589A:p.R530Q,TNS2:NM_198316:exon18:c.G1217A:p.R406Q	.	427	1061	33	1	0	35	0.0162262	.	.	.	2100270	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.320	0.772024504778	0.0043	0.00199681	0.0052	0.0010	0.0027	0	0.0017	0.0070	0.0034	0.0067	0.0001153	3	26028	rs186505042	0.0045	0.0045	0.0044	0.0046	0.0142	0.0044	0.0044	0.0116	0.0107	0.0017	0.0025	0.0250	5.123e-05	0.0011	0.0142	0.0043	0.0064	0.0054	0.0039	0.0039	0.0043	0.0035	0.0050	0.0036	0.0035	0.0045	0.0044	0.0008	0.0044	0.0049	0.0257	0.0004	0.0007	0.0238	0.0050	0.0077	0.0043	0.05	0.40068	D	0.444	0.15157	T	0.414	0.35185	B	0.05	0.25278	B	0.009088	0.30522	N	0.290697	0.563685	0.32234	D	.	.	.	-3.36	0.94067	D	-0.74	0.20791	N	0.251	0.32812	-0.4187	0.71434	T	0.387	0.74187	T	10	0.01160565	0.00253	T	0.772025	0.98198	D	0.320	0.64215	.	.	0.136095386433	0.13204	0.310462656355981	0.30959	0.897905251988	0.70530	0.669389784336	0.62751	T	0.166645	0.51296	T	-0.233784	0.16152	T	-0.106949	0.62854	T	0.0177116158695106	0.00502	T	0.927407	0.73262	D	0.12236214	0.28756	0.088153794	0.20536	0.12236214	0.28756	0.088153794	0.20536	-4.152	0.31627	T	.	.	0.140	0.32299	B	.;.;.;.;.;.	.;.;.;.;.;.	4.123727	0.61658	24.4	0.99869567671012383	0.94726	0.26646	0.23052	N	AEFDBCIJ	0.230530	0.35389	N	-0.435702239582266	0.24227	1.306702	-0.29249201110978	0.28344	1.579759	0.999889827802085	0.44867	0.460665	0.09802	0	0.514364	0.08380	0	0.576033	0.28219	0	0.636168	0.56350	0	.	.	4.63	4.63	0.57175	0.972000	0.29007	9.666000	0.81207	0.588000	0.31329	0.003000	0.16062	1.000000	0.68203	0.815000	0.38403	0.1017:0.0:0.8983:0.0	9.088	0.35757	761	0.50382	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.021761	0.026316	0.020436	0.032164	0.000000	0.025862	0.012270	0.018939	0.05263	1249.83	37	chr12	53059230	.	G	A	1249.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.55;DP=747;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.25;ReadPosRankSum=1.27;SOR=0.702	GT:AD:DP:GQ:PL	0/1:27,16:43:99:403,0,640	17	0	2	0
chr12	53115559	53115559	G	C	exonic	SOAT2	.	nonsynonymous SNV	SOAT2:NM_003578:exon6:c.G613C:p.A205P	.	.	.	.	.	.	.	.	.	.	.	2359753	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.248	0.00612436594193	7.7e-05	0.000199681	1.211e-05	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs144833101	9.731e-06	9.577e-06	9.674e-06	9.788e-06	0.0003	5.65e-06	4.42e-06	0.0002	0.0001	0.0003	0	0	0	0	0	9.037e-07	3.354e-05	0	3.281e-05	3.28e-05	3.853e-05	2.683e-05	0.0001	1.26e-05	7.97e-06	4.725e-05	3.044e-05	0.0001	0	0	0	0	0	0	0	0	0	0.212	0.19500	T	0.079	0.42086	T	0.963	0.55692	D	0.773	0.56974	P	0.008987	0.30568	N	0.332930	0.775002	0.34197	D	2.37	0.68279	M	2.15	0.19311	T	-2.05	0.47008	N	0.321	0.36148	-0.9588	0.39405	T	0.079	0.31284	T	9	0.26444498	0.43932	T	0.006124	0.16023	T	0.248	0.55615	.	.	0.227934060464	0.22382	0.7907936806265203	0.79031	0.621728062346	0.56454	0.441945314407	0.30843	T	0.368094	0.73305	T	-0.11666	0.33672	T	-0.219446	0.52791	T	0.710975766181946	0.41248	D	0.730727	0.34650	T	0.79744166	0.83742	0.85125905	0.91588	0.79744166	0.83744	0.85125905	0.91589	-11.594	0.82817	D	.	.	0.350	0.56547	A	.	.	2.821423	0.37167	20.4	0.99506205525839664	0.68322	0.90345	0.51447	D	AEFDBHI	0.414504	0.48374	N	0.163194915361171	0.49440	3.144253	0.0725722405461258	0.43176	2.62474	0.98326090910441	0.30531	0.428477	0.06694	0	0.547309	0.14657	0	0.607795	0.38427	0	0.613276	0.41899	0	.	.	5.46	3.56	0.39892	1.095000	0.30575	5.597000	0.49014	0.676000	0.76740	0.428000	0.26393	1.000000	0.68203	0.108000	0.18652	0.1404:0.1594:0.7001:0.0	7.077	0.24390	783	0.47268	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	894.33	33	chr12	53115559	.	G	C	894.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.173;DP=733;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.539;SOR=1.04	GT:AD:DP:GQ:PL	0/1:48,38:86:99:908,0,1164	18	0	1	0
chr12	53537486	53537486	G	T	exonic	ATF7;ATF7-NPFF	.	nonsynonymous SNV	ATF7:NM_001366561:exon4:c.C166A:p.P56T,ATF7:NM_001130060:exon5:c.C331A:p.P111T,ATF7:NM_001366555:exon5:c.C364A:p.P122T,ATF7:NM_001366556:exon5:c.C331A:p.P111T,ATF7:NM_001366558:exon5:c.C331A:p.P111T,ATF7-NPFF:NM_001366559:exon5:c.C331A:p.P111T,ATF7-NPFF:NM_001366560:exon5:c.C331A:p.P111T,ATF7:NM_006856:exon5:c.C331A:p.P111T	.	425	1088	8	1	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0359057063779	0.0002	0.000399361	0.0003	0.0003	0	0	0	0.0005	0	0.0002	0.0002975	46	154602	rs149888264	0.0003	0.0003	0.0003	0.0003	0.0057	0.0003	0.0003	0.0041	0.0036	0.0010	8.945e-05	3.826e-05	0	0	0.0057	0.0003	0.0005	0.0003	0.0003	0.0003	0.0003	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0001	0	0.0003	0	0	0	0.0204	0.0003	0	0.0004	0.128	0.34269	T	0.043	0.59732	D	0.467	0.36479	P	0.186	0.36104	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.85	0.82803	M	0.85	0.91903	T	-2.78	0.59059	D	0.383	0.42443	-0.5327	0.67439	T	0.283	0.65488	T	10	0.14785448	0.28009	T	0.035906	0.56650	D	0.236	0.53931	.	.	0.840094896213	0.83856	0.5888306637310861	0.58813	0.252438216393	0.69766	0.70073890686	0.67250	T	0.536298	0.84043	D	0.084898	0.62609	D	0.216238	0.83985	D	0.13726801167108	0.16038	T	0.890411	0.85620	D	0.35607493	0.57536	0.25764865	0.51484	0.35607493	0.57536	0.25764865	0.51484	-4.279	0.27881	T	.	.	0.104	0.35746	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.893792	0.56671	23.8	0.98797253601276025	0.46397	0.99061	0.90654	D	AEFBI	0.687049	0.64852	D	0.563288471372921	0.70895	5.569178	0.607363711838814	0.75474	6.31682	0.99999999660382	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.99	4.99	0.65942	7.474000	0.80024	9.914000	0.82450	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.592	0.87900	475	0.77788	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008081	0.005051	0.009511	0.011696	0.000000	0.017241	0.006135	0.000000	0.02632	816.33	33	chr12	53537486	.	G	T	816.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.923;DP=689;ExcessHet=0;FS=4.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=-0.347;SOR=0.326	GT:AD:DP:GQ:PL	0/1:40,34:74:99:830,0,1098	18	0	1	0
chr12	55840776	55840776	G	T	exonic	MMP19	.	nonsynonymous SNV	MMP19:NM_001272101:exon4:c.C411A:p.S137R,MMP19:NM_002429:exon4:c.C411A:p.S137R	Cavitary optic disc anomalies, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.00944341897423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.76473	D	0.981	0.59675	D	0.892	0.63276	P	0.000000	0.84330	N	0.117279	0.953346	0.43448	D	2.835	0.82492	M	2.24	0.20523	T	-4.0	0.75375	D	0.419	0.47487	-1.0231	0.22704	T	0.120	0.41971	T	10	0.6432967	0.69181	D	0.009443	0.24739	T	0.284	0.60219	0.738	0.87063	0.743870888195	0.74156	0.9198795844221287	0.91963	0.133008016665	0.14980	0.470746874809	0.34783	T	0.283361	0.65611	T	-0.0724	0.40942	T	-0.341774	0.40145	T	0.985667288303375	0.76591	D	0.743826	0.42203	T	0.7883991	0.83173	0.720629	0.83504	0.7883991	0.83175	0.720629	0.83505	-8.991	0.67639	D	.	.	0.427	0.71766	A	.;.;.	.;.;.	3.302123	0.45331	22.1	0.83967312739612765	0.15021	0.77096	0.37870	D	AEFBI	0.404170	0.47756	N	0.239447200915932	0.53120	3.482315	0.067210981234079	0.42911	2.603987	0.790709844881093	0.24010	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.8	0.571	0.16537	1.578000	0.36135	.	.	0.676000	0.76740	0.983000	0.35670	0.915000	0.28207	0.983000	0.59808	0.2261:0.0:0.5142:0.2597	4.616	0.11814	697	0.58201	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1784.33	33	chr12	55840776	.	G	T	1784.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.013;DP=739;ExcessHet=0;FS=1.57;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.52;ReadPosRankSum=1.19;SOR=0.536	GT:AD:DP:GQ:PL	0/1:43,72:115:99:1798,0,1085	18	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	296.73	32	chr12	56716773	.	G	C	296.73	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.781;DP=1467;ExcessHet=2.9153;FS=130.34;InbreedingCoeff=-0.2316;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.525;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,12:77:17:0|1:56716773_G_C:17,0,2354:56716773	11	0	7	1
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	101.41	36	chr12	56716774	.	T	C	101.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.514;DP=1288;ExcessHet=0.7564;FS=97.022;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.27;ReadPosRankSum=0.033;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,12:77:17:0|1:56716773_G_C:17,0,2354:56716773	15	0	4	0
chr12	56923964	56923964	G	A	exonic	SDR9C7	.	nonsynonymous SNV	SDR9C7:NM_148897:exon4:c.C811T:p.R271W	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.0641725543304	.	.	2.472e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs770439255	3.899e-05	3.899e-05	2.178e-05	5.638e-05	0.0002	3.047e-05	2.783e-05	0.0002	0.0001	0	0	0	0	1.872e-05	0	3.148e-05	0	0.0002	2.63e-05	2.627e-05	2.571e-05	2.691e-05	0.0004	8.14e-06	5.14e-06	7.29e-05	3.029e-05	0	0	0	0.0006	0	0	0	0	0	0.0004	0.119	0.28026	T	0.189	0.28575	T	0.63	0.40197	P	0.099	0.30579	B	0.007790	0.31194	N	0.222920	0.939534	0.37264	D	2.85	0.82803	M	-2.04	0.85703	D	-1.87	0.43717	N	0.482	0.51672	0.146	0.84989	D	0.501	0.81164	D	10	0.27692813	0.45258	T	0.064173	0.69195	D	0.484	0.77335	0.551	0.66716	0.876282451974	0.87507	0.7293446394995188	0.72879	0.692741254437	0.60680	0.395825028419	0.24488	T	0.071782	0.34293	T	-0.109811	0.34798	T	-0.135833	0.60478	T	0.344744712293792	0.26811	T	0.510949	0.16331	T	0.12820964	0.29981	0.13163596	0.31604	0.12820964	0.29981	0.13163596	0.31603	-6.682	0.51675	T	0.2754275391228092	0.36982	0.241	0.47524	B	.	.	2.974924	0.39663	21.0	0.99595678186825054	0.73866	0.36206	0.25480	N	AEFBI	0.499924	0.53340	N	0.102715870260686	0.46588	2.896985	0.139027405255785	0.46563	2.900322	0.909380769255184	0.26310	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.52	5.52	0.82153	0.199000	0.17037	1.000000	0.23254	0.676000	0.76740	0.000000	0.06391	0.998000	0.33993	0.998000	0.85391	0.0:0.1495:0.8505:0.0	14.242	0.65508	427	0.81056	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2512.33	35	chr12	56923964	.	G	A	2512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=-1.098;SOR=0.716	GT:AD:DP:GQ:PL	0/1:75,98:173:99:2526,0,1770	18	0	1	0
chr12	57272472	57272472	G	A	exonic	R3HDM2	.	nonsynonymous SNV	R3HDM2:NM_001351213:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351214:exon13:c.C1331T:p.P444L,R3HDM2:NM_001351215:exon13:c.C1331T:p.P444L,R3HDM2:NM_001330122:exon14:c.C1385T:p.P462L,R3HDM2:NM_001351208:exon14:c.C1427T:p.P476L,R3HDM2:NM_001351212:exon14:c.C1331T:p.P444L,R3HDM2:NM_001330121:exon15:c.C1385T:p.P462L,R3HDM2:NM_001351205:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351206:exon15:c.C1481T:p.P494L,R3HDM2:NM_001351204:exon16:c.C1481T:p.P494L,R3HDM2:NM_001351207:exon17:c.C1451T:p.P484L	.	418	1079	24	1	0	26	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.0298082584246	.	0.000798722	0.0015	0	0	0	0	0.0010	0	0.0026	0.0002393	37	154602	rs143617893	0.0008	0.0008	0.0007	0.0009	0.0084	0.0008	0.0008	0.0065	0.0059	0.0003	0.0006	0.0002	0	4.133e-05	0.0084	0.0008	0.0014	0.0023	0.0007	0.0007	0.0007	0.0008	0.0019	0.0006	0.0006	0.0010	0.0008	0.0002	0	0.0009	0.0003	0.0002	0	0.0102	0.0011	0.0014	0.0019	0.0	0.91255	D	0.12	0.52060	T	1.0	0.90584	D	0.995	0.83170	D	.	.	.	.	0.999999	0.81001	D	.	.	.	0.72	0.50976	T	-4.23	0.75935	D	0.684	0.70088	-0.7567	0.57583	T	0.259	0.62977	T	8	0.027980268	0.00936	T	0.029808	0.52246	D	0.327	0.64926	.	.	0.547863905467	0.54442	0.4124449609622846	0.41160	.	.	.	.	.	0.09289	0.39097	T	-0.141926	0.29583	T	0.0168812	0.71428	D	0.155121161964957	0.17504	T	0.959004	0.84537	D	.	.	.	.	.	.	.	.	-3.159	0.11986	T	.	.	0.249	0.48386	B	.;.	.;.	3.214957	0.43783	21.8	0.99782575883711377	0.86955	0.98272	0.81139	D	AEFDBI	0.919835	0.89094	D	0.698962197968543	0.79563	7.104418	0.68479593830285	0.81224	7.477021	0.999999999999919	0.74766	0.428477	0.06694	0	0.00446	0.00028	3	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.37	4.37	0.51830	9.048000	0.93289	9.646000	0.81159	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	16.904	0.85989	447	0.79583	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2261.33	35	chr12	57272472	.	G	A	2261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.609;DP=814;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=0.251;SOR=0.717	GT:AD:DP:GQ:PL	0/1:81,98:179:99:2275,0,1869	18	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T,CNOT2:NM_014515:exon5:c.T266C:p.M89T,CNOT2:NM_001199302:exon6:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3125	1087.65	68	chr12	70329450	.	T	C	1087.65	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.25;DP=1266;ExcessHet=1.3;FS=238.943;InbreedingCoeff=-0.3919;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.577;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,17:77:99:0|1:70329448_G_A:377,0,2326:70329448	3	0	5	11
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I,CNOT2:NM_014515:exon5:c.G267A:p.M89I,CNOT2:NM_001199302:exon6:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	1175.06	68	chr12	70329451	.	G	A	1175.06	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.043;DP=1317;ExcessHet=2.0135;FS=255.631;InbreedingCoeff=-0.4337;MLEAC=10;MLEAF=0.625;MQ=60;MQRankSum=0;QD=2.32;ReadPosRankSum=0.613;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,16:76:99:0|1:70329448_G_A:369,0,2357:70329448	2	0	6	11
chr12	95869490	95869490	G	T	exonic	CCDC38	.	nonsynonymous SNV	CCDC38:NM_182496:exon15:c.C1568A:p.P523Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.0659271147563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.03	0.54159	D	1.0	0.90584	D	0.999	0.92359	D	0.000827	0.41547	D	0.228473	0.970247	0.81001	D	2.445	0.70938	M	-0.12	0.64630	T	-4.76	0.80340	D	0.575	0.59732	-0.3001	0.74982	T	0.415	0.76198	T	10	0.6229787	0.68083	D	0.065927	0.69723	D	0.215	0.50805	0.234	0.16305	0.795535167684	0.79363	0.253140739173495	0.25228	0.340208995874	0.35964	0.445860862732	0.31378	T	0.103268	0.41176	T	0.0390394	0.56921	T	-0.181699	0.56365	T	0.996430337429047	0.89338	D	0.762524	0.38803	T	0.33204666	0.55638	0.37677646	0.62793	0.33204666	0.55638	0.37677646	0.62792	-10.945	0.79355	D	.	.	0.298	0.52809	B	.	.	4.875869	0.79927	27.2	0.99458963084374974	0.65684	0.95437	0.64717	D	AEFGBI	0.525973	0.54852	D	0.686088763623987	0.78720	6.928946	0.659524707898929	0.79323	7.057923	0.999999968488959	0.74766	0.600919	0.35232	0	0.596877	0.49441	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	5.18	5.18	0.71140	3.517000	0.53201	11.636000	0.93745	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.417000	0.27162	0.0:0.0:1.0:0.0	15.959	0.79704	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	.	.	.	.	.	.	.	.	0.02632	1085.33	37	chr12	95869490	.	G	T	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.012;DP=723;ExcessHet=0;FS=0.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=0.221;SOR=0.822	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1099,0,1368	18	0	1	0
chr12	96708644	96708644	G	A	exonic	CFAP54	.	nonsynonymous SNV	CFAP54:NM_001306084:exon48:c.G6565A:p.V2189I,CFAP54:NM_001367885:exon49:c.G6760A:p.V2254I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00241926579601	.	.	3.303e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs776825093	2.404e-05	2.531e-05	1.365e-05	3.454e-05	0.0003	1.745e-05	1.545e-05	0.0002	0.0002	0	0	0	0	0	0.0002	4.501e-06	3.322e-05	0.0003	6.572e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	0.878	0.03241	T	.	.	.	.	.	.	0.982293	0.08086	N	0.989193	1	0.08975	N	.	.	.	.	.	.	-0.12	0.08809	N	0.026	0.00527	-1.0227	0.22834	T	0.050	0.21339	T	8	0.04135868	0.02784	T	0.002419	0.04757	T	0.031	0.07369	.	.	0.0297737177859	0.01360	0.0422793067099393	0.04172	0.0319156781109	0.03313	.	.	.	0.005303	0.04751	T	-0.551032	0.00288	T	-0.735809	0.04069	T	0.0215328855810977	0.00857	T	0.351565	0.07865	T	0.02191844	0.00821	0.022685353	0.00288	0.02191844	0.00821	0.022685353	0.00288	-3.547	0.17096	T	.	.	0.062	0.01252	B	.	.	-0.534164	0.01760	0.133	0.58887294346493479	0.06096	0.00353	0.01817	N	AEFBI	0.016988	0.00416	N	-1.25413430244994	0.04245	0.1912269	-1.32045418164833	0.04166	0.1959421	1.71390038893948E-4	0.05786	0.651	0.46895	0	0.547309	0.14657	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	5.02	-4.48	0.03267	0.206000	0.17174	0.920000	0.22697	-0.102000	0.15922	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.4647:0.0:0.2719:0.2634	4.147	0.09689	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	828.33	33	chr12	96708644	.	G	A	828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.8;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.175;SOR=0.677	GT:AD:DP:GQ:PL	0/1:59,40:99:99:842,0,1531	18	0	1	0
chr12	99806696	99806696	T	C	exonic	ANKS1B	.	nonsynonymous SNV	ANKS1B:NM_001352185:exon4:c.A377G:p.N126S,ANKS1B:NM_001352186:exon4:c.A377G:p.N126S,ANKS1B:NM_001352187:exon4:c.A377G:p.N126S,ANKS1B:NM_001352188:exon4:c.A377G:p.N126S,ANKS1B:NM_152788:exon4:c.A377G:p.N126S	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	.	0.0003	0.00199681	0.0012	0.0005	0.0117	0	0	3.03e-05	0.0022	0.0003	0.001216	188	154602	rs188120653	0.0004	0.0004	0.0004	0.0003	0.0099	0.0003	0.0003	0.0091	0.0088	6.007e-05	0.0099	0	0	0	0	2.077e-05	0.0005	0.0005	0.0008	0.0008	0.0008	0.0008	0.0069	0.0007	0.0006	0.0058	0.0054	0.0001	0	0.0069	0	0	0	0	2.94e-05	0.0009	0.0008	0.215	0.23541	T	0.136	0.34009	T	0.999	0.77913	D	0.981	0.75168	D	0.000008	0.62929	D	0.064020	1	0.81001	D	0.29	0.10111	N	0.65	0.71307	T	-1.65	0.45949	N	0.226	0.25377	-0.5185	0.67970	T	0.260	0.63088	T	9	0.007766843	0.00176	T	.	.	.	0.159	0.41286	.	.	0.696484617506	0.69386	0.26629261415629846	0.26542	1.28143259134	0.82544	0.692419052124	0.66053	T	0.095862	0.39708	T	-0.470304	0.00846	T	-0.437947	0.29039	T	0.0303365135036962	0.02041	T	0.919408	0.77964	D	0.13369742	0.31088	0.1693014	0.38954	0.13369742	0.31088	0.1693014	0.38954	-7.19	0.55409	T	.	.	0.116	0.28607	B	.;.;.	.;.;.	4.420966	0.68469	25.2	0.99780256522113575	0.86693	0.95993	0.67050	D	AEFBI	0.841137	0.75836	D	0.392522492178628	0.61017	4.297281	0.458002919317554	0.65231	4.797898	0.0577285957173102	0.15102	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.29	5.29	0.74430	6.133000	0.71426	6.197000	0.54843	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:0.0:1.0	15.221	0.73004	905	0.23532	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	726.33	35	chr12	99806696	.	T	C	726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.982;DP=694;ExcessHet=0;FS=2.54;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.53;ReadPosRankSum=1.04;SOR=0.399	GT:AD:DP:GQ:PL	0/1:36,27:63:99:740,0,1061	18	0	1	0
chr12	100058786	100058786	G	T	exonic	UHRF1BP1L	.	nonsynonymous SNV	UHRF1BP1L:NM_015054:exon14:c.C2491A:p.H831N	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	.	0.0012	0.0123802	0.0159	0.0021	0.1615	0	0	0.0004	0.0144	0.0004	0.0147475	2280	154602	rs146949195	0.0046	0.0046	0.0054	0.0038	0.1344	0.0045	0.0045	0.1316	0.1304	0.0011	0.1344	0	5.039e-05	0	0	0.0003	0.0039	0.0006	0.0078	0.0078	0.0070	0.0086	0.0679	0.0074	0.0072	0.0644	0.0631	0.0020	0	0.0679	0	0.0002	0	0	0.0005	0.0104	0.0008	0.054	0.38633	T	0.087	0.40747	T	0.456	0.36269	P	0.119	0.32162	B	0.000000	0.84330	D	0.054894	0.999993	0.58761	D	2.08	0.57402	M	2.31	0.16794	T	-0.46	0.15782	N	0.215	0.24010	-1.1689	0.00561	T	0.003	0.00832	T	10	0.0017614365	0.00023	T	.	.	.	0.181	0.45247	.	.	.	.	0.39869096126860754	0.39784	0.245609034778	0.27083	0.552516281605	0.46213	T	0.004886	0.15408	T	-0.529406	0.00387	T	-0.403411	0.32988	T	0.0297467150582476	0.01950	T	0.859714	0.58780	D	0.28582862	0.51602	0.2505067	0.50643	0.28582862	0.51602	0.2505067	0.50642	-4.369	0.29133	T	.	.	0.132	0.39915	B	.;.	.;.	3.245051	0.44309	21.9	0.9468364988475958	0.25320	0.73831	0.36113	D	ALL	0.667032	0.63529	D	0.257039297807366	0.53987	3.565598	0.354904415167119	0.58802	4.05328	1.0	0.98316	0.758104	0.99027	0	0.691618	0.66802	0	0.696353	0.63694	0	0.616919	0.45865	0	.	.	6.02	6.02	0.97559	3.481000	0.52943	9.981000	0.82923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.0:0.0:1.0:0.0	20.537	0.99242	818	0.41518	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2164.33	143	chr12	100058786	.	G	T	2164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.689;DP=882;ExcessHet=0;FS=2.171;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.8;ReadPosRankSum=-0.278;SOR=0.661	GT:AD:DP:GQ:PL	0/1:60,77:137:99:2178,0,1589	18	0	1	0
chr12	102118370	102118370	G	A	exonic	NUP37	.	nonsynonymous SNV	NUP37:NM_024057:exon2:c.C149T:p.T50M	.	428	1090	4	0	0	4	0.0018315	.	.	.	3352429	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.00855193589212	7.7e-05	.	0.0002	0	8.649e-05	0.0001	0	0.0002	0	0.0007	0.0001682	26	154602	rs149986411	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	0.0001	0.0012	0.0009	2.99e-05	6.743e-05	7.677e-05	2.521e-05	1.874e-05	0.0021	0.0001	0.0003	0.0004	0.0001	0.0001	0.0001	0.0001	0.0002	8.174e-05	6.729e-05	0.0001	8.88e-05	0	0	0.0002	0.0003	0	0	0.0034	0.0002	0.0005	0	0.093	0.31532	T	0.076	0.42614	T	0.01	0.15535	B	0.004	0.10090	B	0.000248	0.46924	N	0.206043	0.928736	0.27113	N	0.805	0.20218	L	1.54	0.30133	T	-0.7	0.44094	N	0.205	0.22870	-1.0536	0.13413	T	0.044	0.18906	T	10	0.067644656	0.09455	T	0.008552	0.22606	T	0.205	0.49236	.	.	0.527759996296	0.52422	0.3988646553262932	0.39801	0.181943307188	0.20455	0.337405025959	0.16049	T	0.058804	0.30942	T	-0.338789	0.05472	T	-0.394422	0.34034	T	0.0307935220183589	0.02113	T	0.845515	0.54045	T	0.015198117	0.00127	0.029571688	0.01309	0.015198117	0.00127	0.029571688	0.01309	-4.488	0.30731	T	.	.	0.077	0.11797	B	.;.;.;.	.;.;.;.	2.636129	0.34287	19.59	0.95381200897734331	0.26806	0.69480	0.34204	D	AEFGBCI	0.135359	0.25567	N	-0.427205060376313	0.24520	1.324501	-0.257154858140763	0.29525	1.654876	0.999967291965061	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.55	2.55	0.29757	2.038000	0.40805	4.445000	0.43400	-0.106000	0.15538	0.986000	0.36153	1.000000	0.68203	0.834000	0.39329	0.1704:0.2886:0.541:0.0	7.130	0.24675	509	0.75304	.;.;.;.	.	.	.	.	.	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	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1184.33	36	chr12	102118370	.	G	A	1184.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=810;ExcessHet=0;FS=0.646;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.053;SOR=0.619	GT:AD:DP:GQ:PL	0/1:89,53:142:99:1198,0,2094	18	0	1	0
chr12	102851701	102851701	C	A	exonic	PAH	.	nonsynonymous SNV	PAH:NM_000277:exon8:c.G898T:p.A300S,PAH:NM_001354304:exon9:c.G898T:p.A300S	Phenylketonuria, Autosomal recessive	0	1512	10	0	0	10	0.00329598	.	.	YES	98658	Hyperphenylalaninemia|Inborn_genetic_diseases|Phenylketonuria|not_provided	Human_Phenotype_Ontology:HP:0004923,MedGen:C0751435|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|MedGen:C3661900	reviewed_by_expert_panel	Pathogenic	.	.	.	.	.	.	.	.	0.944	0.687775527069	0.0003	.	0.0004	0	0.0002	0	0	0.0007	0	0.0002	0.0003881	60	154602	rs5030853	0.0004	0.0004	0.0003	0.0005	0.0024	0.0004	0.0004	0.0015	0.0012	0	0.0001	0.0075	0	1.872e-05	0.0024	0.0002	0.0007	0.0006	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	2.415e-05	0	0.0003	0.0066	0	0	0	0.0003	0.0010	0	0.0	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.047013	1	0.81001	D	3.545	0.93219	H	-7.0	0.99828	D	-2.92	0.61129	D	0.896	0.92550	0.955	0.96476	D	0.994	0.99870	D	10	0.21077383	0.37483	T	0.687776	0.97424	D	0.944	0.98851	.	.	0.992341481691	0.99226	0.951340187434245	0.95118	0.234505343878	0.25988	0.798704922199	0.81765	T	0.983663	0.99885	D	0.337868	0.85691	D	0.579612	0.96534	D	0.171648024188298	0.18692	T	0.968603	0.88631	D	0.86760205	0.88672	0.82752347	0.90024	0.9164324	0.92903	0.86179686	0.92302	-7.608	0.58367	D	0.4634754317247824	0.54524	0.244	0.47827	B	.;.	.;.	5.106050	0.85342	28.6	0.99693122948966317	0.80112	0.97585	0.75717	D	AEFBCI	0.973973	0.99529	D	1.00247571485204	0.95820	13.99934	0.93434704324232	0.96902	15.30441	0.999999999971142	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.568000	0.81546	7.683000	0.65396	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.779	0.96406	514	0.74853	Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal;Aromatic amino acid hydroxylase, C-terminal|Aromatic amino acid hydroxylase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	1	0	0	0	0	0	0	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	712.33	35	chr12	102851701	.	C	A	712.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.304;DP=694;ExcessHet=0;FS=0.89;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.76;ReadPosRankSum=1.32;SOR=0.674	GT:AD:DP:GQ:PL	0/1:42,31:73:99:726,0,1054	18	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCT	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCT:p.V186Rfs*42,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCT:p.V329Rfs*42	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0029	0.0007	0.0010	0.0017	0.0008	0.0008	0.0015	0.0014	0.0009	0.0017	0.0024	0.0014	0.0011	0.0011	0.0007	0.0012	0.0017	3.977e-05	0.0003	3.886e-05	4.074e-05	0.0002	1.728e-05	1.138e-05	8.08e-06	3.02e-06	4.875e-05	0	0	0	0.0002	0.0002	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCT	2004.32	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=4;MLEAF=0.105;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,14:132:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:212,0,4878:103984920	15	0	4	0
chr12	103984922	103984922	-	TAAGGAAGA	splicing	TDG	NM_001363612:exon7:c.535+2->TAAGGAAGA;NM_003211:exon8:c.964+2->TAAGGAAGA	.	.	.	444	951	105	0	22	127	0.0523169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.815e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	772.7	46	chr12	103984922	.	T	TTAAGGAAGA	772.7	.	AC=1;AF=0.033;AN=30;BaseQRankSum=3.96;DP=2041;ExcessHet=1.3;FS=5.251;InbreedingCoeff=-0.2259;MLEAC=1;MLEAF=0.033;MQ=58.85;MQRankSum=-9.421;QD=1.13;ReadPosRankSum=-2.683;SOR=1.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,14:132:99:0|1:103984920_G_GAGGATGCAAAGAAGATGGCT:214,0,4877:103984920	14	0	1	4
chr12	103985730	103985730	-	GG	splicing	TDG	NM_001363612:exon8:c.661+2->GG;NM_003211:exon9:c.1090+2->GG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0014	0.0003	0.0006	0.0002	0.0008	0.0033	0.0030	3.84e-05	1	26028	rs749286024	0.0004	0.0057	0.0003	0.0004	0.0020	0.0004	0.0003	0.0017	0.0016	0.0007	0.0020	0.0004	0.0006	0.0007	0.0004	0.0002	0.0004	0.0014	4.013e-05	0.0061	5.227e-05	2.741e-05	9.835e-05	1.741e-05	1.146e-05	3.292e-05	1.943e-05	9.835e-05	0	0	0	0	9.669e-05	0	1.492e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	3706.52	114	chr12	103985730	.	T	TGG	3706.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.45;DP=1630;ExcessHet=2.9153;FS=4.626;InbreedingCoeff=-0.2258;MLEAC=1;MLEAF=0.026;MQ=56.67;MQRankSum=-7.797;QD=5.8;ReadPosRankSum=-4.562;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,30:80:99:0|1:103985728_A_ATTGAGAGC:1022,0,2012:103985728	18	0	1	0
chr12	108623794	108623794	G	C	exonic	SELPLG	.	nonsynonymous SNV	SELPLG:NM_001206609:exon2:c.C562G:p.Q188E,SELPLG:NM_003006:exon2:c.C514G:p.Q172E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00160772469807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.381728	0.04424	N	1.665560	1	0.08975	N	0.345	0.11182	N	2.61	0.23486	T	-0.21	0.10308	N	0.019	0.01004	-1.0412	0.16951	T	0.030	0.12979	T	10	0.037587255	0.02122	T	0.001608	0.02600	T	0.014	0.01968	0.27	0.21893	0.296679040009	0.29266	0.030459393722495974	0.02994	0.114126153488	0.12869	0.16088411212	0.00011	T	0.057901	0.30695	T	-0.401803	0.02253	T	-0.814939	0.01557	T	0.0565793545720315	0.06619	T	0.439356	0.12136	T	0.050989404	0.09298	0.033860832	0.02353	0.050989404	0.09297	0.033860832	0.02353	-8.227	0.63210	D	.	.	0.073	0.09578	B	.;.;.	.;.;.	-0.137780	0.03423	0.624	0.5260152460065034	0.04779	0.10734	0.16155	N	AEFDBHCI	0.066622	0.13057	N	-1.26606236609472	0.04091	0.1840128	-1.30453247476051	0.04371	0.2060299	0.999718327564256	0.42101	0.67177	0.52595	0	0.702456	0.74545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	3.59	-0.8	0.10347	-0.514000	0.06382	-0.731000	0.07661	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1588:0.312:0.3253:0.2038	1.963	0.03184	853	0.34956	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1782.33	33	chr12	108623794	.	G	C	1782.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.083;DP=885;ExcessHet=0;FS=0.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.241;SOR=0.779	GT:AD:DP:GQ:PL	0/1:80,77:157:99:1796,0,2041	18	0	1	0
chr12	109245726	109245726	A	G	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon38:c.A5279G:p.N1760S	.	418	1089	15	0	0	15	0.00683995	.	.	.	3203651	ACACB-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.555	0.111149620622	0.0006	0.000998403	0.0012	0.0003	0.0037	0	0	0.0010	0.0055	0.0018	0.0011513	178	154602	rs147443159	0.0008	0.0008	0.0007	0.0009	0.0107	0.0007	0.0007	0.0086	0.0078	0.0009	0.0033	7.653e-05	0	0	0.0107	0.0006	0.0014	0.0015	0.0010	0.0010	0.0010	0.0010	0.0031	0.0009	0.0008	0.0024	0.0022	0.0003	0	0.0031	0	0	0	0.0272	0.0010	0.0066	0.0008	0.38	0.11191	T	0.533	0.10000	T	0.997	0.70673	D	0.968	0.71741	D	0.000001	0.62929	D	0.098929	0.999987	0.58761	D	1.625	0.41611	L	-3.69	0.95317	D	-2.8	0.59226	D	0.611	0.68342	0.728	0.93527	D	0.852	0.95070	D	10	0.013752043	0.00291	T	0.11115	0.78881	D	0.555	0.81659	.	.	0.69773716983	0.69512	0.6629170389092041	0.66228	0.211791101344	0.23679	0.567744493484	0.48359	T	0.572186	0.85853	D	-0.1984	0.21036	T	-0.060815	0.66276	T	0.0396252721292233	0.03622	T	0.989001	0.96348	D	0.43570864	0.63125	0.3102782	0.57040	0.43570864	0.63125	0.3102782	0.57039	-7.22	0.55625	T	.	.	0.170	0.43283	B	.;.;.	.;.;.	4.305703	0.65784	24.9	0.99693135630277352	0.80112	0.99803	0.99571	D	AEFBI	0.934321	0.92751	D	0.516008828449457	0.68037	5.162218	0.538507765652113	0.70601	5.529352	0.999943110972472	0.47345	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.9	4.9	0.63643	8.947000	0.92735	10.286000	0.83271	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.840	0.69846	694	0.58444	Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-coenzyme A carboxyltransferase, N-terminal;Acetyl-coenzyme A carboxyltransferase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.013595	0.015152	0.023098	0.002924	0.050000	0.017241	0.009146	0.003788	0.02632	710.33	33	chr12	109245726	.	A	G	710.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=690;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.157;SOR=0.678	GT:AD:DP:GQ:PL	0/1:43,27:70:99:724,0,1096	18	0	1	0
chr12	109445539	109445541	AAG	-	exonic	MYO1H	.	nonframeshift deletion	MYO1H:NM_001101421:exon30:c.2972_2974del:p.E992del	.	437	1074	11	0	0	11	0.00509495	.	.	.	3393248	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0002	0.0026	0	0	0.0010	0.0056	0.0013	0.0002689	7	26028	rs372231088	0.0007	0.0007	0.0006	0.0007	0.0096	0.0006	0.0006	0.0075	0.0068	0.0012	0.0023	7.665e-05	0	1.875e-05	0.0096	0.0006	0.0011	0.0009	0.0009	0.0009	0.0010	0.0009	0.0024	0.0008	0.0008	0.0017	0.0015	0.0005	0	0.0024	0	0	0	0.0238	0.0010	0.0047	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014113	0.015152	0.023098	0.000000	0.050000	0.008621	0.012270	0.003817	0.02632	1266.29	33	chr12	109445538	.	AAAG	A	1266.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.796;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.62;ReadPosRankSum=-0.853;SOR=0.593	GT:AD:DP:GQ:PL	0/1:35,33:68:99:1280,0,1370	18	0	1	0
chr12	111702254	111702254	G	C	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_001136538:exon3:c.G280C:p.A94P,ACAD10:NM_025247:exon3:c.G280C:p.A94P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0373141519834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0002	2.24e-05	7.732e-05	0	0	0.0004	0.0002	0.0001	5.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.72154	D	0.029	0.79402	D	0.963	0.55692	D	0.602	0.50862	P	0.007397	0.31425	N	0.222822	1	0.81001	D	0.695	0.17993	N	2.95	0.09635	T	-2.42	0.53096	N	0.442	0.60410	-1.1983	0.00163	T	0.042	0.18202	T	10	0.47138333	0.59883	T	0.037314	0.57541	D	0.254	0.56428	0.727	0.86111	0.530852358449	0.52733	0.7634971630154191	0.76297	0.607455808728	0.55555	0.344899773598	0.17168	T	0.271746	0.64409	T	-0.108354	0.35039	T	-0.393419	0.34152	T	0.738627551699252	0.42663	D	0.732227	0.45757	T	0.33670285	0.56016	0.38002715	0.63044	0.33670285	0.56016	0.38002715	0.63044	-10.061	0.74276	D	.	.	0.844	0.79432	P	.;.;.;.	.;.;.;.	4.899048	0.80508	27.3	0.99731050189706616	0.82761	0.97118	0.72795	D	AEFBI	0.814060	0.73638	D	0.420087935551001	0.62526	4.470066	0.4971641940229	0.67801	5.133027	0.993659247621036	0.33302	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	6.689000	0.74392	9.809000	0.81737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0:0.0:1.0:0.0	18.426	0.90554	533	0.73433	.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal;.;Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	99.78	52	chr12	111702254	.	G	C	99.78	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-1.271;DP=966;ExcessHet=0.3672;FS=437.102;InbreedingCoeff=-0.1794;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.741;SOR=9.19	GT:AD:DP:GQ:PL	0/1:32,14:46:32:32,0,454	11	0	3	5
chr12	121232487	121232487	G	A	exonic	P2RX4	.	nonsynonymous SNV	P2RX4:NM_001261397:exon9:c.G877A:p.D293N,P2RX4:NM_001261398:exon9:c.G958A:p.D320N,P2RX4:NM_002560:exon9:c.G958A:p.D320N,P2RX4:NM_001256796:exon10:c.G1006A:p.D336N	.	400	1120	2	0	0	2	0.000892061	.	.	.	2368768	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.378	0.0509071631482	.	.	2.472e-05	0	8.646e-05	0	0	1.499e-05	0	6.057e-05	1.94e-05	3	154602	rs761067441	1.779e-05	1.779e-05	1.498e-05	2.063e-05	0.0003	1.238e-05	1.051e-05	6.092e-05	2.521e-05	0	2.236e-05	0	0	0	0.0003	1.169e-05	6.623e-05	6.956e-05	3.283e-05	3.281e-05	2.57e-05	4.029e-05	4.81e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	4.81e-05	0	0	0	0	0	0	4.41e-05	0	0	0.008	0.59928	D	0.035	0.56192	D	0.918	0.50838	P	0.735	0.55480	P	0.000001	0.84330	D	0.090749	0.999997	0.81001	D	2.695	0.78878	M	3.49	0.05071	T	-4.56	0.79998	D	0.57	0.59308	-1.0208	0.23454	T	0.072	0.29291	T	10	0.66731083	0.70504	D	0.050907	0.64438	D	0.378	0.69612	.	.	0.643072836008	0.64012	0.8554010947366473	0.85503	0.787649090982	0.65612	0.639040708542	0.58427	T	0.379083	0.74191	T	-0.229619	0.16700	T	-0.364955	0.37477	T	0.661210596561432	0.38949	D	0.967503	0.88280	D	0.5982631	0.72598	0.4405823	0.67372	0.5982631	0.72599	0.4405823	0.67372	-12.676	0.89870	D	.	.	0.277	0.70783	B	.;.;.;.	.;.;.;.	4.438284	0.68891	25.3	0.99900561377941288	0.97275	0.97385	0.74413	D	AEFBCI	0.856038	0.77323	D	0.660237664275739	0.77032	6.597433	0.635682284954437	0.77547	6.700762	0.999999999995176	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.02	5.02	0.66742	6.453000	0.73407	9.779000	0.81589	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.316	0.87110	527	0.73864	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2064.33	33	chr12	121232487	.	G	A	2064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.023;DP=790;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=0.161;SOR=0.703	GT:AD:DP:GQ:PL	0/1:62,81:143:99:2078,0,1469	18	0	1	0
chr12	123321580	123321580	C	T	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon17:c.G2278A:p.D760N,SBNO1:NM_018183:exon17:c.G2275A:p.D759N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0170678802019	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1475388843	6.841e-07	6.84e-07	1.361e-06	0	2.236e-05	0	0	.	.	0	2.236e-05	0	0	0	0	0	0	0	6.576e-06	6.569e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.049	0.40573	D	0.056	0.47828	T	0.999	0.90584	D	0.886	0.68407	P	0.000000	0.84330	D	0.051027	1	0.81001	D	2.415	0.69758	M	1.22	0.37052	T	-3.1	0.63554	D	0.667	0.67564	-0.8178	0.54071	T	0.200	0.55667	T	10	0.43694803	0.57854	T	0.017068	0.38615	T	0.158	0.41098	0.135	0.03920	0.298199939746	0.29431	0.3691525881020521	0.36829	1.67767398834	0.89937	0.788200736046	0.80169	T	0.168436	0.51545	T	-0.149955	0.28317	T	-0.453177	0.27346	T	0.98172003030777	0.74070	D	0.974603	0.90967	D	0.4001578	0.60743	0.25630468	0.51327	0.4001578	0.60743	0.25630468	0.51326	-6.131	0.47769	T	.	.	0.241	0.50862	B	.;.;.	.;.;.	4.332085	0.66395	25.0	0.99932390440890206	0.99439	0.98716	0.85943	D	AEFGBI	0.806380	0.73071	D	0.732377600867274	0.81754	7.596989	0.739194559636542	0.85347	8.553618	0.999999968816612	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	5.46	0.80021	7.224000	0.77527	7.570000	0.60688	0.530000	0.24713	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	19.307	0.94155	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	.	.	.	.	.	.	.	.	0.02632	58.33	34	chr12	123321580	.	C	T	58.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.3;DP=1033;ExcessHet=0;FS=56.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.46;ReadPosRankSum=0.683;SOR=6.282	GT:AD:DP:GQ:PL	0/1:104,23:127:72:72,0,1872	18	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	0.05263	2708.83	36	chr12	123916480	.	C	A	2708.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.592;DP=823;ExcessHet=0.119;FS=2.359;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.838;SOR=0.889	GT:AD:DP:GQ:PL	0/1:56,48:104:99:1157,0,1359	17	0	2	0
chr12	124012566	124012566	A	G	exonic	ZNF664	.	nonsynonymous SNV	ZNF664:NM_001204298:exon5:c.A422G:p.K141R,ZNF664:NM_152437:exon5:c.A422G:p.K141R	.	410	1021	91	0	0	91	0.0426629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	.	0.0055	0.0109824	0.0125	0.0008	0.0078	0	0.0011	0.0108	0.0188	0.0410	0.0112547	1740	154602	rs150362388	0.0088	0.0090	0.0078	0.0098	0.0396	0.0087	0.0086	0.0385	0.0380	0.0010	0.0061	0.0409	2.519e-05	0.0022	0.0243	0.0063	0.0130	0.0396	0.0067	0.0070	0.0060	0.0074	0.0446	0.0064	0.0062	0.0397	0.0378	0.0010	0.0618	0.0057	0.0414	0	0.0010	0.0204	0.0066	0.0066	0.0446	0.048	0.40068	D	0.05	0.48080	T	0.998	0.73220	D	0.956	0.69739	D	0.000711	0.42254	D	0.000000	0.995453	0.42699	D	0.47	0.13106	N	1.83	0.24841	T	-2.33	0.51646	N	0.019	0.00279	-1.0759	0.08164	T	0.069	0.28147	T	10	0.004956186	0.00106	T	.	.	.	0.164	0.42212	.	.	.	.	0.0231800799893291	0.02270	1.82181212601	0.91961	0.833988547325	0.87174	D	0.030176	0.21449	T	-0.433228	0.01418	T	-0.389105	0.34655	T	0.0161618254466552	0.00392	T	0.773923	0.40554	T	0.10536492	0.24911	0.120088995	0.28984	0.10536492	0.24911	0.120088995	0.28983	-6.775	0.52373	T	.	.	0.224	0.46458	B	.;.;.;.	.;.;.;.	3.907745	0.56965	23.8	0.99852841245123192	0.93191	0.97984	0.78636	D	AEFBI	0.688240	0.64931	D	0.467145638787452	0.65182	4.790512	0.456292471123958	0.65122	4.784035	0.999996081217093	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.25	4.25	0.49658	2.148000	0.41859	8.602000	0.77731	0.658000	0.54486	0.927000	0.32177	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.974	0.52370	749	0.51929	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	0.017623	0.005051	0.010870	0.014620	0.000000	0.008621	0.024390	0.045455	0.05263	1810.83	37	chr12	124012566	.	A	G	1810.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.251;DP=886;ExcessHet=0.119;FS=0.997;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=6.47;ReadPosRankSum=-0.703;SOR=0.775	GT:AD:DP:GQ:PL	0/1:100,47:147:99:1059,0,2802	17	0	2	0
chr12	124402549	124402549	-	C	exonic	NCOR2	.	frameshift insertion	NCOR2:NM_001077261:exon16:c.1491_1492insG:p.Q498Afs*24,NCOR2:NM_001206654:exon16:c.1491_1492insG:p.Q498Afs*24,NCOR2:NM_006312:exon16:c.1494_1495insG:p.Q499Afs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372331070	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	0.0004	0.0004	0.0001	0.0001	3.933e-05	2.719e-05	2.009e-05	0.0004	0.0004	0.0006	3.665e-05	0.0002	0.0002	0.0003	8.079e-05	0.0003	0.0001	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	475.29	43	chr12	124402549	.	G	GC	475.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.44;DP=1131;ExcessHet=0;FS=3.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.54;ReadPosRankSum=-0.592;SOR=1.341	GT:AD:DP:GQ:PL	0/1:44,19:63:99:489,0,1684	18	0	1	0
chr12	124402550	124402550	-	GC	exonic	NCOR2	.	frameshift insertion	NCOR2:NM_001077261:exon16:c.1490_1491insGC:p.Q498Hfs*112,NCOR2:NM_001206654:exon16:c.1490_1491insGC:p.Q498Hfs*112,NCOR2:NM_006312:exon16:c.1493_1494insGC:p.Q499Hfs*112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0005	0.0006	0.0006	0.0007	0.0006	0.0005	0.0007	0.0007	7.974e-05	0.0002	0	3.901e-05	3.812e-05	0.0007	0.0007	0.0009	1.791e-05	0.0003	0.0002	0.0004	0.0001	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0	0	0	0	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	575.51	43	chr12	124402550	.	T	TGC	575.51	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.72;DP=1124;ExcessHet=0;FS=5.286;InbreedingCoeff=-0.0708;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=0.13;SOR=1.392	GT:AD:DP:GQ:PL	0/1:41,19:63:99:588,0,1586	15	0	1	3
chr13	19705699	19705699	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354909:exon8:c.A1349G:p.N450S,PSPC1:NM_001042414:exon9:c.A1349G:p.N450S	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00390126569449	.	.	0.0016	0.0038	0.0005	0	0.0003	0.0020	0.0014	0.0007	3.84e-05	1	26028	rs747690097	0.0006	0.0043	0.0006	0.0006	0.0038	0.0005	0.0005	0.0025	0.0021	0.0012	0.0008	0.0008	0	7.566e-05	0.0038	0.0005	0.0005	0.0011	6.656e-05	0.0013	6.514e-05	6.805e-05	0.0002	3.56e-05	2.747e-05	9.669e-05	7.037e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.628	0.05183	T	0.791	0.04181	T	0.003	0.11197	B	0.004	0.10090	B	0.000005	0.62929	D	0.141833	0.875453	0.35645	D	2.175	0.60977	M	2.52	0.14160	T	-0.71	0.20145	N	0.389	0.43029	-1.0460	0.15534	T	0.025	0.10464	T	10	0.01992461	0.00451	T	0.003901	0.09180	T	0.089	0.25827	.	.	0.263709349026	0.25991	0.31023299681423644	0.30936	1.58326423833	0.88413	0.560328662395	0.47314	T	0.023946	0.18187	T	-0.271186	0.11624	T	-0.627316	0.10619	T	0.0115631071898478	0.00175	T	0.851615	0.53551	D	0.048064068	0.08317	0.046961877	0.06662	0.048064068	0.08317	0.046961877	0.06661	-3.543	0.17039	T	.	.	0.066	0.03060	B	.;.	.;.	2.734902	0.35810	19.99	0.97863726497321746	0.36486	0.94119	0.60170	D	AEBI	0.373470	0.45873	N	-0.321271564085281	0.28342	1.562413	-0.148788062981382	0.33455	1.913874	0.706191074588238	0.22762	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.08	3.89	0.44098	3.910000	0.56084	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1543:0.0:0.8457	8.371	0.31578	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	0.007380	0.017857	0.009642	0.013274	0.000000	0.000000	0.007874	0.000000	0.05263	210.83	34	chr13	19705699	.	T	C	210.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.835;DP=1038;ExcessHet=0.119;FS=1.975;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=46.64;MQRankSum=-4.063;QD=0.72;ReadPosRankSum=-1.983;SOR=1.046	GT:AD:DP:GQ:PL	0/1:129,15:144:45:45,0,3537	17	0	2	0
chr13	20189125	20189125	C	T	exonic	GJB2	.	nonsynonymous SNV	GJB2:NM_004004:exon2:c.G457A:p.V153I	Bart-Pumphrey syndrome, Autosomal dominant;Deafness, autosomal dominant 3A, Autosomal dominant;Deafness, autosomal recessive 1A, Autosomal recessive, Digenic dominant;Hystrix-like ichthyosis with deafness, Autosomal dominant;Keratitis-ichthyosis-deafness syndrome, Autosomal dominant;Keratoderma, palmoplantar, with deafness, Autosomal dominant;Vohwinkel syndrome, Autosomal dominant	0	1428	89	5	0	99	0.0335025	.	.	YES	53921	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_1A|Autosomal_dominant_nonsyndromic_hearing_loss_3A|Hearing_loss,_autosomal_recessive|Nonsyndromic_genetic_hearing_loss|Ichthyosis,_hystrix-like,_with_hearing_loss|not_provided|Mutilating_keratoderma|X-linked_mixed_hearing_loss_with_perilymphatic_gusher|Autosomal_dominant_keratitis-ichthyosis-hearing_loss_syndrome|Palmoplantar_keratoderma-deafness_syndrome|Knuckle_pads,_deafness_AND_leukonychia_syndrome	MedGen:CN169374|MONDO:MONDO:0009076,MedGen:C2673759,OMIM:220290,Orphanet:90636|MONDO:MONDO:0011103,MedGen:C2675750,OMIM:601544,Orphanet:90635|MONDO:MONDO:0019588,MedGen:C1846647,OMIM:607197,OMIM:PS220290,Orphanet:90635,Orphanet:90636|MONDO:MONDO:0019497,MedGen:C5680182,Orphanet:87884|MONDO:MONDO:0011245,MedGen:C1865234,OMIM:602540,Orphanet:477|MedGen:C3661900|MONDO:MONDO:0007422,MedGen:C0265964,OMIM:124500,Orphanet:494|MONDO:MONDO:0010576,MedGen:C1844678,OMIM:304400,Orphanet:383|MONDO:MONDO:0007850,MedGen:C0265336,OMIM:148210,Orphanet:477|MONDO:MONDO:0007852,MedGen:C1835672,OMIM:148350,Orphanet:2202|MONDO:MONDO:0007866,MedGen:C0266004,OMIM:149200,Orphanet:2698	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.384	.	0.0022	0.0131789	0.0106	0.0003	0.0021	0.0001	0.0027	0.0045	0.0133	0.0559	0.0093789	1450	154602	rs111033186	0.0056	0.0056	0.0039	0.0073	0.0532	0.0055	0.0055	0.0519	0.0514	0.0004	0.0015	0.0125	0.0002	0.0024	0.0130	0.0023	0.0065	0.0532	0.0041	0.0041	0.0033	0.0049	0.0537	0.0038	0.0037	0.0483	0.0463	0.0002	0	0.0018	0.0112	0.0002	0.0011	0.0068	0.0039	0.0024	0.0537	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.007	0.12992	B	0.002985	0.35606	N	0.194247	0.81569	0.34703	D	-0.305	0.03614	N	-3.69	0.95317	D	0.21	0.04776	N	0.037	0.01347	-0.1897	0.77935	T	0.500	0.81081	T	10	0.0035775304	0.00065	T	.	.	.	0.384	0.70112	.	.	.	.	0.7986003561244597	0.79813	0.0344876997802	0.03621	0.396479845047	0.24579	T	0.514834	0.82919	D	-0.343221	0.05168	T	-0.22706	0.52055	T	0.00172557914567628	0.00018	T	0.775922	0.40781	T	0.118389055	0.27895	0.07755717	0.17290	0.15799402	0.35569	0.084154546	0.19337	-2.737	0.07619	T	0.08005930382270487	0.04003	0.074	0.05188	B	.;.;.	.;.;.	2.535416	0.32792	19.15	0.75964087230707467	0.11280	0.42497	0.26891	N	AEFBHCI	0.189679	0.31693	N	-0.689546288893229	0.16319	0.8303233	-0.521671695966085	0.21565	1.167199	0.999999795805695	0.74766	0.59774	0.34471	0	0.61073	0.52368	0	0.61531	0.40942	0	0.63947	0.58350	0	.	.	5.47	5.47	0.80345	0.240000	0.17822	6.006000	0.52567	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.271000	0.23793	0.0:0.7829:0.1429:0.0743	9.616	0.38854	682	0.59757	Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich domain;Connexin, N-terminal|Gap junction protein, cysteine-rich 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	0.015106	0.000000	0.004076	0.008772	0.000000	0.000000	0.024390	0.041667	0.02632	2332.33	41	chr13	20189125	.	C	T	2332.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=916;ExcessHet=0;FS=1.113;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.769;SOR=0.602	GT:AD:DP:GQ:PL	0/1:103,90:193:99:2346,0,2554	18	0	1	0
chr13	21155150	21155150	-	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	exonic	SKA3	.	stoploss	SKA3:NM_001166017:exon8:c.1119_1120insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.K374Cfs*46,SKA3:NM_145061:exon9:c.1238_1239insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG:p.*413delinsCATQ*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0005	0.0006	0.0020	0	0.0009	0.0013	0.0003	.	.	.	.	1.987e-05	2.326e-05	2.181e-05	1.791e-05	2.522e-05	1.394e-05	1.205e-05	3e-07	1.1e-07	0	0	0	2.522e-05	0.0005	0	1.801e-06	0	0	0.0012	0.0022	0.0009	0.0015	0.0037	0.0011	0.0010	0.0024	0.0020	0.0005	0	0.0017	0.0012	0.0019	0.0025	0	0.0011	0.0038	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1275.79	35	chr13	21155150	.	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	1275.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.6;DP=740;ExcessHet=0.119;FS=14.652;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=-0.49;SOR=1.401	GT:AD:DP:GQ:PL	0/1:61,16:77:99:485,0,2517	17	0	2	0
chr13	21155813	21155813	-	GG	splicing	SKA3	NM_145061:exon8:c.1120-2->CC	.	.	.	629	164	50	18	661	747	0.207729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0005	0.0001	0.0001	0.0029	0.0001	9.502e-05	0.0017	0.0013	4.473e-05	3.209e-05	4.826e-05	2.856e-05	0.0011	0.0029	5.098e-05	6.97e-05	0.0002	0.0007	0.0008	0.0005	0.0010	0.0018	0.0006	0.0006	0.0009	0.0007	0.0003	0	0.0010	0.0012	0.0018	0.0021	0	0.0007	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	17188.5	38	chr13	21155813	.	T	TGG	17188.5	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.286;DP=1307;ExcessHet=5.3738;FS=0;InbreedingCoeff=-0.31;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.38;ReadPosRankSum=-0.113;SOR=0.746	GT:AD:DP:GQ:PL	0/1:0,24:72:99:1757,900,1645	18	0	1	0
chr13	23353824	23353824	G	A	exonic	SACS	.	nonsynonymous SNV	SACS:NM_001278055:exon7:c.C1705T:p.H569Y,SACS:NM_014363:exon9:c.C2146T:p.H716Y	Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive	0	1512	9	1	0	11	0.00362438	.	.	.	527761	SACS-related_disorder|not_provided|Spastic_paraplegia|not_specified|Charlevoix-Saguenay_spastic_ataxia|Hereditary_spastic_paraplegia	.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MONDO:MONDO:0010041,MedGen:C1849140,OMIM:270550,Orphanet:98|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.046	0.0055157270693	0.0008	0.00119808	0.0010	0.0003	0.0003	0	0.0002	0.0009	0	0.0033	0.0010479	162	154602	rs146852400	0.0014	0.0014	0.0013	0.0015	0.0035	0.0014	0.0013	0.0032	0.0031	0.0002	0.0003	0.0011	0	0.0006	0	0.0014	0.0013	0.0035	0.0008	0.0008	0.0009	0.0008	0.0031	0.0007	0.0007	0.0019	0.0015	0.0003	0	0.0004	0.0014	0	0.0002	0	0.0012	0.0009	0.0031	0.45	0.08996	T	0.059	0.45961	T	0.059	0.23051	B	0.055	0.25995	B	0.006910	0.31720	N	0.371166	1	0.81001	D	1.5	0.37844	L	2.31	0.16794	T	-0.83	0.22727	N	0.296	0.33469	-0.9893	0.32778	T	0.086	0.33410	T	10	0.009966999	0.00223	T	0.005516	0.14197	T	0.046	0.12618	.	.	0.442977140156	0.43918	0.3838010027130866	0.38295	.	.	0.412141382694	0.26753	T	0.232857	0.59952	T	-0.53131	0.00377	T	-0.537756	0.18517	T	0.0240590368566059	0.01153	T	0.764624	0.39166	T	0.036361124	0.04459	0.04358227	0.05456	0.030536845	0.02733	0.040414654	0.04362	-4.69	0.33283	T	0.11934353545954915	0.11107	0.094	0.15385	B	.;.;.	.;.;.	2.727451	0.35692	19.96	0.97570322300002077	0.34675	0.80996	0.40496	D	AEFBI	0.160636	0.28660	N	0.115072306636361	0.47166	2.946123	0.208347210250142	0.50309	3.22441	0.999989430497283	0.51787	0.732398	0.92422	0	0.708844	0.79440	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	6.08	5.24	0.72863	3.388000	0.52247	7.605000	0.61698	-0.174000	0.10959	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0698:0.1281:0.6697:0.1324	6.651	0.22154	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	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1029.33	33	chr13	23353824	.	G	A	1029.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.403;DP=704;ExcessHet=0;FS=0.773;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=-0.971;SOR=0.841	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1043,0,1239	18	0	1	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	929	0.16858	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	3058.4	221	chr13	25097003	.	A	T	3058.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.405;DP=3659;ExcessHet=2.0135;FS=2.941;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=59.24;MQRankSum=-3.073;QD=2.12;ReadPosRankSum=-1.584;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,26:213:99:0|1:25097003_A_T:529,0,7774:25097003	13	0	6	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	19368.9	262	chr13	25097016	.	AGACG	A	19368.9	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.12;DP=4461;ExcessHet=25.4433;FS=7.09;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.31;MQRankSum=-9.731;QD=4.48;ReadPosRankSum=-0.48;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,30:230:99:0|1:25097003_A_T:658,0,8308:25097003	15	0	4	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15963.1	259	chr13	25097030	.	C	*	15963.1	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.76;DP=4427;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.21;MQRankSum=-10.43;QD=3.73;ReadPosRankSum=-0.576;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,28:233:99:0|1:25097003_A_T:559,0,8478:25097003	15	0	4	0
chr13	26046925	26046925	C	T	exonic	SHISA2	.	nonsynonymous SNV	SHISA2:NM_001007538:exon2:c.G476A:p.R159H	.	343	1178	1	0	0	1	0.000424268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0494468544135	7.7e-05	0.000599042	0.0004	0	0.0003	0	0	1.506e-05	0	0.0025	0.000304	47	154602	rs377584498	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0.0002	2.238e-05	0	2.52e-05	0	0	3.418e-05	0.0002	0.0026	0.0002	0.0002	7.718e-05	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	0.0001	0	0	0	0	0	0	2.941e-05	0	0.0046	0.105	0.29823	T	0.304	0.20100	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.96	0.42888	T	0.31	0.04022	N	0.606	0.62357	-0.8911	0.48837	T	0.201	0.55766	T	10	0.021252632	0.00505	T	0.049447	0.63815	D	0.251	0.56024	.	.	0.392547445146	0.38869	0.5440808058963603	0.54334	1.00474942747	0.74539	0.567740082741	0.48358	T	0.118788	0.43985	T	-0.152966	0.27848	T	0.00164017	0.70442	D	0.126624008674223	0.15066	T	0.911209	0.68535	D	0.1484667	0.33894	0.09765517	0.23253	0.1484667	0.33894	0.09765517	0.23252	-5.139	0.38315	T	.	.	0.174	0.38062	B	.	.	5.150057	0.86250	28.8	0.99941211518111328	0.99797	0.99027	0.90159	D	AEFDBI	0.888852	0.82238	D	0.556580459673413	0.70482	5.508214	0.542971592980416	0.70909	5.575194	0.999999999999997	0.74766	0.67177	0.52595	0	0.563428	0.19063	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.83	4.83	0.61880	7.876000	0.85623	5.982000	0.52185	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.874000	0.41677	0.0:1.0:0.0:0.0	17.963	0.89012	842	0.36989	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1092.33	41	chr13	26046925	.	C	T	1092.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.34;DP=751;ExcessHet=0;FS=6.78;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-1.366;SOR=1.364	GT:AD:DP:GQ:PL	0/1:58,40:98:99:1106,0,1402	18	0	1	0
chr13	33060962	33060962	G	A	exonic	KL	.	nonsynonymous SNV	KL:NM_004795:exon4:c.G1883A:p.R628H	Tumoral calcinosis, hyperphosphatemic, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	2043101	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.00846765851059	7.7e-05	.	0.0001	9.623e-05	0.0003	0.0003	0.0003	7.517e-05	0	6.208e-05	0.0001035	16	154602	rs137884931	9.184e-05	9.235e-05	9.675e-05	8.687e-05	0.0002	7.906e-05	7.379e-05	7.291e-05	6.639e-05	2.991e-05	0.0002	3.838e-05	7.568e-05	0.0003	0	8.56e-05	9.96e-05	4.646e-05	7.228e-05	7.223e-05	8.993e-05	5.38e-05	0.0004	3.971e-05	3.127e-05	6.823e-05	2.855e-05	4.826e-05	0	6.543e-05	0	0.0004	9.423e-05	0	7.348e-05	0	0	0.109	0.29288	T	0.081	0.41742	T	0.154	0.28120	B	0.082	0.29098	B	0.000174	0.48594	N	0.219510	0.875862	0.35653	D	1.64	0.41913	L	1.5	0.31205	T	-2.2	0.49519	N	0.172	0.18376	-1.0531	0.13547	T	0.063	0.26065	T	10	0.07481286	0.11483	T	0.008468	0.22407	T	0.038	0.09825	.	.	0.480497669815	0.47680	0.42772334531587763	0.42689	0.163869458312	0.18484	0.22369658947	0.01534	T	0.165725	0.51168	T	-0.430209	0.01478	T	-0.555418	0.16810	T	0.0392564711088705	0.03555	T	0.813719	0.46699	T	0.25549683	0.48584	0.1420926	0.33816	0.25549683	0.48583	0.1420926	0.33815	-7.717	0.59126	D	0.2925714968114953	0.38929	0.075	0.05360	B	.	.	1.995301	0.25349	16.73	0.98875615396935268	0.47719	0.35054	0.25212	N	AEFDBI	0.182602	0.30993	N	-0.55227023721642	0.20412	1.075873	-0.556624146569605	0.20629	1.11236	0.999096833019681	0.38425	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.57	2.89	0.32713	2.680000	0.46583	0.688000	0.20738	0.672000	0.70159	0.374000	0.25957	0.007000	0.19602	0.114000	0.18915	0.2196:0.0:0.7804:0.0	10.040	0.41328	546	0.72524	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2312.33	154	chr13	33060962	.	G	A	2312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=2020;ExcessHet=0;FS=1.226;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=0.462;SOR=0.6	GT:AD:DP:GQ:PL	0/1:73,88:161:99:2326,0,1717	18	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:84,31:122:7:7,0,1350	6	0	12	1
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:99,32:135:11:.:.:11,0,2287:.	3	0	15	1
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.00928738655635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0043	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	7.169e-05	0.0003	0.0003	0.0002	0.0004	0.0007	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.359	0.17014	T	0.971	0.57185	D	0.825	0.59331	P	0.910049	0.07409	N	1.036210	0.738816	0.29756	N	2.25	0.63811	M	0.83	0.47815	T	-2.17	0.49018	N	0.299	0.33796	-0.8840	0.49440	T	0.220	0.58306	T	10	0.24265513	0.41465	T	0.009287	0.24389	T	0.157	0.40909	0.474	0.55020	0.818736002665	0.81702	0.4195385722957138	0.41869	0.292299643335	0.31640	0.676025271416	0.63699	T	0.177767	0.52817	T	-0.182115	0.23422	T	-0.499372	0.22412	T	0.931297183036804	0.59657	D	0.823718	0.48487	T	0.077003986	0.17449	0.085702814	0.19806	0.077003986	0.17449	0.085702814	0.19805	-6.791	0.52492	T	.	.	0.387	0.58814	A	.	.	2.668832	0.34787	19.72	0.99757066602325661	0.84772	0.28433	0.23553	N	AEFGBI	0.095724	0.19336	N	0.133333906900528	0.48022	3.020043	0.0518211482771647	0.42159	2.545258	0.975820955919572	0.29668	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	3.16	0.35406	0.142000	0.15917	0.534000	0.19274	0.599000	0.40250	0.161000	0.23811	0.997000	0.33255	0.999000	0.91618	0.0:0.8028:0.0:0.1972	7.319	0.25689	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1786	161.85	13	chr13	44965897	.	C	G	161.85	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-1.093;DP=380;ExcessHet=1.3;FS=147.874;InbreedingCoeff=-0.2464;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.4;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,2:18:5:0|1:44965896_A_G:5,0,551:44965896	9	0	5	5
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	.	.	.	.	.	.	.	.	0.2105	487.46	49	chr13	48459808	.	T	C	487.46	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-4.073;DP=1639;ExcessHet=4.0268;FS=118.507;InbreedingCoeff=-0.2619;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=0.426;SOR=11.168	GT:AD:DP:GQ:PL	0/1:89,31:120:99:120,0,1475	11	0	8	0
chr13	80337647	80337647	T	G	exonic	SPRY2	.	nonsynonymous SNV	SPRY2:NM_001318536:exon2:c.A59C:p.D20A,SPRY2:NM_001318537:exon2:c.A59C:p.D20A,SPRY2:NM_001318538:exon2:c.A59C:p.D20A,SPRY2:NM_005842:exon2:c.A59C:p.D20A	.	418	1072	31	1	0	33	0.0151585	.	.	.	3893777	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.161	.	0.0026	0.00319489	0.0047	0.0003	0.0029	0.0001	0.0085	0.0038	0.01	0.0126	0.0042432	656	154602	rs141331436	0.0039	0.0039	0.0037	0.0042	0.0123	0.0038	0.0038	0.0117	0.0114	0.0002	0.0027	0.0011	2.519e-05	0.0089	0.0087	0.0034	0.0039	0.0123	0.0031	0.0032	0.0028	0.0035	0.0133	0.0029	0.0028	0.0107	0.0097	0.0003	0	0.0034	0.0009	0	0.0087	0.0068	0.0035	0.0047	0.0133	0.613	0.05420	T	0.654	0.06643	T	1.0	0.90584	D	0.992	0.80445	D	0.000592	0.43095	D	0.224168	0.999998	0.58761	D	2.2	0.62015	M	0.56	0.54540	T	-0.78	0.21644	N	0.472	0.50778	-0.6976	0.60553	T	0.254	0.62383	T	10	0.0057548285	0.00128	T	.	.	.	0.161	0.41658	.	.	0.536231820724	0.53273	0.568324904863497	0.56760	1.51082159887	0.87234	0.486366450787	0.36935	T	0.107127	0.41906	T	-0.324056	0.06571	T	-0.227872	0.51978	T	0.0318544857619161	0.02282	T	0.608739	0.23025	T	0.14498861	0.33255	0.11663937	0.28156	0.15470317	0.35002	0.11881217	0.28677	-2.597	0.06481	T	.	.	0.121	0.25133	B	.;.	.;.	4.607949	0.73040	25.9	0.99313600354406661	0.59092	0.96832	0.71180	D	AEFDBCI	0.798340	0.72491	D	0.444224775955597	0.63876	4.630019	0.455208210573323	0.65052	4.775195	0.999999999997623	0.74766	0.542737	0.22433	0	0.586065	0.33999	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.2	5.2	0.71720	4.754000	0.61888	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	15.145	0.72327	837	0.37933	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005051	0.006793	0.002924	0.000000	0.025862	0.009146	0.030303	0.05263	3951.83	47	chr13	80337647	.	T	G	3951.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=995;ExcessHet=0.119;FS=1.348;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=2.85;SOR=0.611	GT:AD:DP:GQ:PL	0/1:73,75:148:99:1956,0,1844	17	0	2	0
chr13	91908031	91908031	A	G	exonic	GPC5	.	nonsynonymous SNV	GPC5:NM_004466:exon6:c.A1375G:p.I459V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0251066118635	.	.	0.0002	0	0	0	0	0.0002	0	0.0012	0.0001811	28	154602	rs536610153	0.0002	0.0002	0.0001	0.0002	0.0011	0.0001	0.0001	0.0009	0.0009	3.024e-05	0	0.0007	5.085e-05	5.31e-05	0.0002	9.3e-05	0.0001	0.0011	9.207e-05	9.195e-05	0.0001	6.732e-05	0.0006	5.532e-05	4.368e-05	0.0002	8.989e-05	0	0	0	0.0009	0	0	0	0.0001	0	0.0006	0.058	0.37750	T	0.108	0.37589	T	0.283	0.32148	B	0.268	0.39801	B	0.027262	0.25783	N	0.403490	0.909014	0.36362	D	1.585	0.39878	L	0.55	0.54728	T	-0.51	0.15986	N	0.328	0.36884	-0.8283	0.53410	T	0.135	0.45029	T	10	0.06719446	0.09325	T	0.025107	0.48090	D	0.112	0.31546	0.605	0.73706	0.208816687407	0.20498	0.2631073738849352	0.26223	0.0382858610645	0.04071	0.481682956219	0.36290	T	0.189603	0.54388	T	-0.433163	0.01419	T	-0.445426	0.28203	T	0.132876835695397	0.15645	T	0.717028	0.32946	T	0.051750686	0.09549	0.08392884	0.19269	0.051750686	0.09549	0.08392884	0.19269	-5.889	0.45341	T	.	.	0.101	0.17657	B	.	.	2.934137	0.38987	20.9	0.99226167179889302	0.56057	0.94637	0.61818	D	AEFBI	0.621423	0.60612	D	0.00152452593749243	0.41925	2.516546	0.0841694222330689	0.43752	2.670542	0.999953829552494	0.48110	0.542737	0.22433	0	0.573888	0.26702	0	0.573888	0.23631	0	0.638787	0.57140	0	.	.	4.84	3.65	0.40985	4.354000	0.59193	5.926000	0.51241	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9065:0.0:0.0935:0.0	8.074	0.29865	977	0.04225	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1180.33	34	chr13	91908031	.	A	G	1180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=714;ExcessHet=0;FS=1.649;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.186;SOR=0.487	GT:AD:DP:GQ:PL	0/1:54,45:99:99:1194,0,1396	18	0	1	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	1262.59	138	chr13	102737670	.	C	G	1262.59	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-5.507;DP=3002;ExcessHet=4.0268;FS=282.115;InbreedingCoeff=-0.3588;MLEAC=9;MLEAF=0.3;MQ=59.98;MQRankSum=0;QD=0.86;ReadPosRankSum=2.02;SOR=12.288	GT:AD:DP:GQ:PL	0/1:126,53:179:99:283,0,2644	7	0	8	4
chr13	102769439	102769439	C	T	exonic	TEX30	.	nonsynonymous SNV	TEX30:NM_001286775:exon3:c.G118A:p.G40R,TEX30:NM_138779:exon3:c.G118A:p.G40R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.0777014010211	.	.	0.0002	0	0	0	0	0	0	0.0016	0.0001682	26	154602	rs745464059	0.0001	0.0001	4.771e-05	0.0002	0.0018	9.483e-05	8.964e-05	0.0016	0.0015	0	0	0	0	0	0	8.999e-07	1.658e-05	0.0018	7.229e-05	7.224e-05	1.285e-05	0.0001	0.0021	3.972e-05	3.128e-05	0.0011	0.0009	0	0	0	0	0	0	0	1.47e-05	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000015	0.62929	D	0.113498	0.999995	0.81001	D	2.415	0.69758	M	1.79	0.25509	T	-5.85	0.88495	D	0.94	0.98563	-0.8131	0.54362	T	0.190	0.54123	T	10	0.26049343	0.43499	T	0.077701	0.72832	D	0.534	0.80426	0.449	0.50957	0.339316883193	0.33537	0.7284628663917987	0.72790	0.76600582791	0.64516	0.776401102543	0.78385	T	0.200587	0.55822	T	-0.0545875	0.43748	T	0.129798	0.78880	D	0.260355859915225	0.23330	T	0.949105	0.80429	D	0.58918273	0.72106	0.6975599	0.82188	0.58918273	0.72107	0.6975599	0.82189	-7.633	0.69538	D	.	.	0.904	0.86586	P	.;.;.	.;.;.	4.929661	0.81258	27.5	0.99931086612387454	0.99387	0.89285	0.49657	D	AEFDGBCI	0.850841	0.76769	D	0.839811972008247	0.88520	9.609542	0.821338978795463	0.91236	10.78568	0.999999999996546	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	6.307000	0.72783	7.633000	0.62825	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.153	0.98091	944	0.12746	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1339.33	39	chr13	102769439	.	C	T	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.507;DP=718;ExcessHet=0;FS=4.86;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.592;SOR=0.86	GT:AD:DP:GQ:PL	0/1:48,55:103:99:1353,0,1244	18	0	1	0
chr13	103058298	103058298	G	T	exonic	SLC10A2	.	nonsynonymous SNV	SLC10A2:NM_000452:exon2:c.C462A:p.D154E	Bile acid malabsorption, primary, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1948560	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.068	0.00454487722076	.	0.000599042	0.0005	0	0	0	0	5.994e-05	0	0.0031	0.0003816	59	154602	rs199645187	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0032	0.0030	0	0	0	0	0	0.0002	7.208e-06	0.0002	0.0035	0.0001	0.0001	3.856e-05	0.0002	0.0044	9.146e-05	7.702e-05	0.0029	0.0025	0	0	0	0	0	0	0	0	0	0.0044	1.0	0.00964	T	0.873	0.03286	T	0.002	0.09854	B	0.022	0.19653	B	0.000159	0.49130	D	0.212628	1	0.08975	N	0.98	0.24916	L	2.79	0.11189	T	-1.16	0.29727	N	0.139	0.13769	-0.9366	0.43149	T	0.013	0.04890	T	10	0.0072321	0.00165	T	0.004545	0.11189	T	0.068	0.19811	0.307	0.27806	0.181679512989	0.17746	0.8730110804772919	0.87267	0.0055018748095	0.00483	0.441857099533	0.30831	T	0.061378	0.31638	T	-0.602316	0.00141	T	-0.641012	0.09595	T	0.0224890033736154	0.00964	T	0.524848	0.17228	T	0.051858947	0.09585	0.045596402	0.06169	0.058256436	0.11699	0.055625025	0.09793	-4.084	0.25054	T	0.14574057973856006	0.16756	0.143	0.31355	B	.	.	1.134532	0.15214	11.68	0.38351435947877249	0.02581	0.63766	0.32192	D	AEFBI	0.300510	0.40928	N	-0.854492642495702	0.11940	0.5790783	-0.759672446958967	0.15485	0.8146271	3.2689430179324E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.74	-0.0989	0.12964	1.184000	0.31663	1.654000	0.27862	0.676000	0.76740	0.811000	0.29866	0.880000	0.27694	0.968000	0.53726	0.459:0.0:0.399:0.1421	4.937	0.13295	908	0.22609	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	1326.33	36	chr13	103058298	.	G	T	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.199;DP=814;ExcessHet=0;FS=0.619;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=-0.745;SOR=0.755	GT:AD:DP:GQ:PL	0/1:82,62:144:99:1340,0,2054	18	0	1	0
chr13	109784544	109784544	C	A	exonic	IRS2	.	nonsynonymous SNV	IRS2:NM_003749:exon1:c.G1510T:p.G504C	.	401	1120	1	0	0	1	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.0722295296505	.	0.000399361	0.0007	0	0	0	0	0	0.0053	0.0061	0.000414	64	154602	rs554521999	0.0002	0.0002	0.0001	0.0003	0.0038	0.0002	0.0002	0.0034	0.0033	0	0	0	2.768e-05	0	0.0006	0	0.0004	0.0038	0.0001	0.0001	8.998e-05	0.0002	0.0043	9.745e-05	8.259e-05	0.0029	0.0024	2.407e-05	0	0	0	0	0	0	0	0	0.0043	0.026	0.46910	D	0.04	0.50809	D	1.0	0.90584	D	0.989	0.78396	D	0.000119	0.50451	U	0.150426	0.993222	0.41873	D	2.895	0.83812	M	2.13	0.19588	T	-5.75	0.87760	D	0.708	0.71143	-1.0768	0.07983	T	0.096	0.36055	T	10	0.014217943	0.00299	T	0.07223	0.71478	D	0.146	0.38789	0.1	0.01484	0.514127983839	0.51054	0.5708543133895796	0.57013	.	.	0.834588050842	0.87266	D	0.881203	0.97511	D	-0.374671	0.03365	T	-0.311247	0.43525	T	0.292399771074497	0.24689	T	0.972453	0.90064	D	0.5277333	0.68702	0.353193	0.60884	0.5277333	0.68703	0.353193	0.60884	-11.835	0.84037	D	.	.	0.587	0.68330	P	.	.	4.407070	0.68149	25.2	0.9965410055191537	0.77505	0.99767	0.99318	D	AEFDBCIJ	0.666308	0.63482	D	0.447159652047827	0.64043	4.650105	0.380169724598571	0.60343	4.220797	0.999999992402894	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.519653	0.09787	0	0.554799	0.18163	0	.	.	3.62	3.62	0.40616	1.827000	0.38740	7.265000	0.57972	0.491000	0.22372	0.911000	0.31706	1.000000	0.68203	0.992000	0.67800	0.0:0.8929:0.0:0.1071	8.470	0.32139	969	0.06854	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1486.33	35	chr13	109784544	.	C	A	1486.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=775;ExcessHet=0;FS=4.921;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=0.746;SOR=1.207	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1500,0,1230	18	0	1	0
chr13	113654922	113654922	C	T	exonic	ATP4B	.	nonsynonymous SNV	ATP4B:NM_000705:exon2:c.G133A:p.V45M	.	435	1052	35	0	0	35	0.0163628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	.	0.0018	0.00219649	0.0046	0.0002	0.0011	0	0.0005	0.0025	0.0110	0.0218	0.0039197	606	154602	rs142885298	0.0029	0.0029	0.0022	0.0035	0.0213	0.0028	0.0028	0.0205	0.0202	0.0003	0.0013	0.0172	5.038e-05	0.0004	0.0206	0.0013	0.0043	0.0213	0.0020	0.0020	0.0017	0.0023	0.0182	0.0018	0.0017	0.0151	0.0140	0.0002	0	0.0010	0.0144	0.0006	0.0004	0.0068	0.0017	0.0047	0.0182	0.026	0.46910	D	0.091	0.40110	T	0.991	0.64070	D	0.905	0.64260	P	0.024629	0.26229	N	0.288040	0.615678	0.32660	D	2.56	0.74772	M	1.17	0.37910	T	-0.29	0.11728	N	0.219	0.24510	-0.4967	0.68769	T	0.191	0.54286	T	10	0.00927794	0.00210	T	.	.	.	0.195	0.47612	.	.	0.564651752942	0.56128	0.5015984315122252	0.50081	0.428974533343	0.43203	0.620959222317	0.55864	T	0.121961	0.44530	T	-0.470027	0.00850	T	-0.431682	0.29744	T	0.0578959192080709	0.06833	T	0.856014	0.54441	D	0.11131314	0.26305	0.11781726	0.28442	0.11131314	0.26305	0.11781726	0.28441	-6.068	0.46844	T	.	.	0.123	0.25817	B	.	.	4.616775	0.73272	26.0	0.99884775725049157	0.96049	0.76793	0.37692	D	AEFDGBHCI	0.369389	0.45614	N	0.451620711280182	0.64295	4.680807	0.364439385245441	0.59383	4.115586	0.999998593535094	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.02	3.15	0.35301	2.926000	0.48587	4.576000	0.43900	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.8322:0.1678:0.0	12.697	0.56378	976	0.04745	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.010101	0.006793	0.008772	0.000000	0.000000	0.021341	0.011364	0.05263	2804.83	34	chr13	113654922	.	C	T	2804.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.201;DP=966;ExcessHet=0.119;FS=1.436;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.069;SOR=0.788	GT:AD:DP:GQ:PL	0/1:80,71:151:99:1594,0,1851	17	0	2	0
chr14	19713015	19713015	T	C	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.A902G:p.N301S	.	560	950	11	1	0	13	0.00679561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00579073	0.0116	0.0070	0.0108	0	0	0.0148	0	0.0069	0.0025742	67	26028	rs199518800	0.0096	0.0098	0.0097	0.0095	0.0294	0.0095	0.0095	0.0250	0.0234	0.0023	0.0082	0.0026	2.542e-05	0.0019	0.0294	0.0111	0.0106	0.0046	0.0082	0.0084	0.0089	0.0075	0.0124	0.0078	0.0076	0.0109	0.0103	0.0030	0.1172	0.0124	0.0015	0	0.0020	0.0280	0.0105	0.0171	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.455	0.92281	M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011133403	0.00245	T	.	.	.	.	.	.	.	0.215869574891	0.21205	0.1917215674202443	0.19090	.	.	0.330938637257	0.15076	T	0.035256	0.23648	T	-0.208439	0.19598	T	-0.0627898	0.66137	T	.	.	.	0.938406	0.76842	D	0.11643884	0.27463	0.22482058	0.47407	0.11643884	0.27462	0.22482058	0.47406	-4.875	0.35453	T	.	.	0.095	0.15115	B	.;.	.;.	3.329613	0.45828	22.2	0.46429092639118175	0.03718	0.96575	0.69827	D	AEFI	.	.	.	.	.	.	.	.	.	3.05807834259679E-4	0.06454	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.631584	0.41392	1.26	1.26	0.20534	6.843000	0.75179	5.232000	0.48034	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.0:0.0:0.0:1.0	6.762	0.22733	994	0.00715	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	0.018248	0.032609	0.025478	0.034091	0.000000	0.000000	0.000000	0.000000	0.02632	1536.33	34	chr14	19713015	.	T	C	1536.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=38.3;MQRankSum=-3.981;QD=11.73;ReadPosRankSum=1.59;SOR=0.754	GT:AD:DP:GQ:PL	0/1:72,59:131:99:1550,0,1857	18	0	1	0
chr14	20435274	20435274	C	G	exonic	KLHL33	.	nonsynonymous SNV	KLHL33:NM_001365790:exon2:c.G538C:p.D180H	.	616	898	8	0	0	8	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0003458	9	26028	rs374606404	0.0002	0.0002	0.0002	0.0003	0.0061	0.0002	0.0002	0.0052	0.0049	8.681e-05	0	0	0	0	0.0042	9.454e-05	0.0005	0.0061	0.0003	0.0003	0.0002	0.0005	0.0079	0.0003	0.0002	0.0059	0.0052	2.404e-05	0	0	0	0	0	0	0.0002	0	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.985615	0.40309	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017137319	0.00364	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019395	0.15458	T	.	.	.	.	.	.	.	.	.	0.754025	0.37642	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.34339	B	.;.	.;.	2.901008	0.38450	20.7	0.58449813018790864	0.05996	0.68304	0.33751	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.99989412893698	0.45129	0.166803	0.03914	0	0.060609	0.00678	0	0.182457	0.04408	0	0.075334	0.01956	0	0.220741	0.31357	4.64	3.73	0.41982	3.165000	0.50477	5.823000	0.50099	0.549000	0.26987	0.989000	0.36753	1.000000	0.68203	0.137000	0.19835	0.0:0.8284:0.1716:0.0	12.300	0.54191	946	0.12043	BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ 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	.	.	.	.	.	.	.	.	0.1	70.4	1	chr14	20435274	.	C	G	70.4	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-0.967;DP=46;ExcessHet=0;FS=0;InbreedingCoeff=0.1759;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:33:40,0,33	13	1	1	4
chr14	23104886	23104886	-	GCA	exonic	LMLN2	.	nonframeshift insertion	LMLN2:NM_001354640:exon1:c.34_35insTGC:p.L11_P12insL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0103	0	0.01	0	0.0016	0	0.0020	0.00011	17	154602	rs781677359	0.0014	0.0011	0.0014	0.0015	0.0064	0.0013	0.0013	0.0056	0.0053	0.0047	0.0019	0.0017	0.0064	0	0.0015	0.0007	0.0017	0.0014	0.0045	0.0046	0.0048	0.0041	0.0060	0.0040	0.0038	0.0052	0.0050	0.0060	0.0116	0.0028	0.0051	0.0031	0	0	0.0026	0.0041	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1508.55	16	chr14	23104886	.	G	GGCA	1508.55	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.518;DP=304;ExcessHet=1.4774;FS=3.102;InbreedingCoeff=-0.1553;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=20.39;ReadPosRankSum=0.298;SOR=0.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,15:19:99:0|1:23104886_G_GGCA:585,0,123:23104886	16	0	1	2
chr14	23358934	23358934	G	A	exonic	EFS	.	nonsynonymous SNV	EFS:NM_032459:exon4:c.C914T:p.P305L,EFS:NM_001277174:exon5:c.C686T:p.P229L,EFS:NM_005864:exon5:c.C1193T:p.P398L	.	416	1096	10	0	0	10	0.00454133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0002	0.00259585	0.0022	9.81e-05	0.0016	0	0	0.0006	0.0023	0.0132	0.0019211	297	154602	rs201333215	0.0011	0.0011	0.0007	0.0015	0.0130	0.0010	0.0010	0.0123	0.0121	8.981e-05	0.0008	0.0013	0	1.877e-05	0.0024	0.0003	0.0013	0.0130	0.0008	0.0008	0.0005	0.0010	0.0145	0.0006	0.0006	0.0118	0.0108	4.81e-05	0	0.0003	0.0026	0	0	0.0102	0.0004	0.0005	0.0145	0.062	0.36912	T	0.378	0.16086	T	0.001	0.07471	B	0.001	0.04355	B	0.249359	0.03636	N	1.629830	0.950212	0.28817	N	-1.1	0.00987	N	1.99	0.21666	T	2.86	0.00162	N	0.115	0.10483	-1.0279	0.21136	T	0.019	0.07800	T	10	0.002263546	0.00033	T	.	.	.	0.038	0.09825	.	.	0.119812018005	0.11559	0.20898062588966046	0.20814	0.113064990156	0.12762	0.278318315744	0.07259	T	0.019743	0.15670	T	-0.688733	0.00043	T	-0.751063	0.03444	T	0.0132429478948653	0.00236	T	0.59824	0.22282	T	0.049543455	0.08812	0.042803884	0.05182	0.049543455	0.08812	0.042803884	0.05182	-4.506	0.31408	T	.	.	0.056	0.01075	B	.;.;.	.;.;.	-0.022831	0.04126	0.981	0.87749517154781342	0.17453	0.10316	0.15856	N	AEFDBI	0.046101	0.07616	N	-1.14205383069102	0.05911	0.2707748	-1.05398034234484	0.08624	0.4249459	0.999993385595966	0.74766	0.634777	0.41761	0	0.563428	0.19063	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	5.06	-4.23	0.03530	-0.822000	0.04555	-0.612000	0.08217	-0.102000	0.15922	0.001000	0.13787	0.000000	0.08366	0.638000	0.32368	0.3332:0.1379:0.3749:0.1541	1.835	0.02947	479	0.77495	CAS family, C-terminal;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1312.33	35	chr14	23358934	.	G	A	1312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=746;ExcessHet=0;FS=0.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=-0.727;SOR=0.809	GT:AD:DP:GQ:PL	0/1:73,53:126:99:1326,0,1852	18	0	1	0
chr14	23556933	23556933	A	C	exonic	THTPA	.	nonsynonymous SNV	THTPA:NM_001256062:exon1:c.A176C:p.D59A,THTPA:NM_001256322:exon1:c.A176C:p.D59A,THTPA:NM_024328:exon1:c.A176C:p.D59A,THTPA:NM_001126339:exon2:c.A176C:p.D59A,THTPA:NM_001256321:exon2:c.A176C:p.D59A,THTPA:NM_001256323:exon2:c.A176C:p.D59A	.	423	1091	7	1	0	9	0.00410771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0102642061013	7.7e-05	0.000399361	9.172e-05	0.0005	8.75e-05	0	0	7.584e-05	0	0	8.41e-05	13	154602	rs140606262	0.0001	0.0001	9.801e-05	0.0001	0.0010	9.091e-05	8.598e-05	0.0005	0.0003	5.974e-05	0	3.826e-05	0	0	0.0010	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.404e-05	0.0002	7.09e-05	5.747e-05	0.0001	9.901e-05	7.223e-05	0	0	0	0	0	0	0.0002	0	0	0.033	0.45756	D	0.047	0.53426	D	0.004	0.12183	B	0.006	0.12133	B	0.004974	0.33218	N	0.342940	0.700885	0.33420	D	1.245	0.31408	L	0.83	0.47815	T	-1.18	0.38924	N	0.321	0.44761	-1.0182	0.24301	T	0.078	0.31012	T	10	0.031126946	0.01244	T	0.010264	0.26588	T	0.034	0.08419	.	.	0.348101942276	0.34424	0.5563201019673493	0.55559	0.0171494012742	0.01662	0.24168035388	0.02943	T	0.062336	0.63029	T	-0.319242	0.06960	T	-0.416911	0.31430	T	0.0332134485166146	0.02507	T	0.631037	0.24617	T	0.4041689	0.61020	0.11229771	0.27095	0.4041689	0.61020	0.11229771	0.27094	-3.631	0.32830	T	.	.	0.107	0.22825	B	.;.;.;.;.;.	.;.;.;.;.;.	3.645166	0.51706	23.1	0.98537412931471047	0.42670	0.54278	0.29577	D	AEFDBHCI	0.162745	0.28895	N	-0.36146123986861	0.26853	1.468776	-0.210209897653969	0.31168	1.761408	0.999999610058404	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.627883	0.49187	0	.	.	5.91	2.8	0.31881	1.878000	0.39244	3.898000	0.40333	-0.043000	0.17390	0.986000	0.36153	1.000000	0.68203	0.961000	0.51904	0.4079:0.0:0.5921:0.0	7.112	0.24576	518	0.74548	CYTH domain|CYTH domain|CYTH domain;CYTH domain|CYTH domain|CYTH domain;CYTH domain|CYTH domain;.;CYTH domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05263	4686.83	33	chr14	23556933	.	A	C	4686.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.89;DP=998;ExcessHet=0.119;FS=3.855;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.456;SOR=0.529	GT:AD:DP:GQ:PL	0/1:106,92:198:99:2388,0,2680	17	0	2	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	.	.	.	.	.	.	.	.	0.1923	681.04	170	chr14	24300437	.	G	C	681.04	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-4.585;DP=2057;ExcessHet=1.3;FS=376.992;InbreedingCoeff=-0.281;MLEAC=7;MLEAF=0.269;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.41;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,32:121:35:.:.:35,0,2553:.	8	0	5	6
chr14	24311643	24311643	C	G	exonic	LTB4R2	.	nonsynonymous SNV	LTB4R2:NM_001164692:exon2:c.C979G:p.L327V,LTB4R2:NM_019839:exon2:c.C979G:p.L327V	.	373	1138	11	0	0	11	0.00480979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	.	.	0.00159744	0.0017	0	0	0	0	0.0002	0.0022	0.0114	0.0014165	219	154602	rs377045409	0.0007	0.0007	0.0004	0.0009	0.0099	0.0006	0.0006	0.0094	0.0092	2.987e-05	2.237e-05	0.0007	0	0	0.0038	2.338e-05	0.0006	0.0099	0.0003	0.0003	6.422e-05	0.0006	0.0097	0.0003	0.0002	0.0075	0.0067	2.405e-05	0	0	0.0006	0	0	0	2.939e-05	0.0005	0.0097	0.524	0.10838	T	0.08	0.41913	T	0.999	0.77913	D	0.943	0.67921	D	0.452857	0.12486	U	0.674625	1	0.81001	D	0.975	0.24501	L	-0.28	0.67543	T	-0.35	0.12847	N	0.16	0.30800	-0.7116	0.59874	T	0.316	0.68549	T	10	0.0062233806	0.00140	T	.	.	.	0.201	0.48592	0.298	0.26362	0.810050617562	0.80826	0.19740698031152448	0.19657	1.45993325731	0.86323	0.529451489449	0.42957	T	0.026074	0.19371	T	-0.399913	0.02318	T	-0.337829	0.40590	T	0.0853302114552114	0.10655	T	.	.	.	0.23221739	0.46006	0.25339702	0.50986	0.23221739	0.46006	0.25339702	0.50986	-4.08	0.24994	T	.	.	0.130	0.27851	B	.;.;.	.;.;.	3.530725	0.49532	22.8	0.99718627187437547	0.81843	0.29255	0.23773	N	AEFDGBHCI	0.276103	0.39092	N	0.0922722852880377	0.46103	2.855923	0.068459493089178	0.42973	2.608838	0.999999999067042	0.74766	0.695654	0.57023	0	0.672317	0.65289	0	0.723109	0.80598	0	0.372554	0.06265	0	.	.	4.81	4.81	0.61401	2.604000	0.45938	4.856000	0.45423	0.549000	0.26987	0.971000	0.34370	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	15.397	0.74525	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	0.002520	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.007576	0.02632	1772.33	38	chr14	24311643	.	C	G	1772.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.359;DP=786;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-0.482;SOR=0.665	GT:AD:DP:GQ:PL	0/1:59,70:129:99:1786,0,1417	18	0	1	0
chr14	24507429	24507429	C	G	exonic	CMA1	.	nonsynonymous SNV	CMA1:NM_001836:exon2:c.G136C:p.G46R	.	424	1064	32	2	0	36	0.0166359	.	.	.	725649	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.152	0.0772632775056	0.0043	0.00279553	0.0045	0.0010	0.0041	0	0.0085	0.0058	0.0077	0.0023	0.0043078	666	154602	rs5246	0.0041	0.0041	0.0040	0.0042	0.0160	0.0040	0.0040	0.0133	0.0123	0.0009	0.0031	0.0085	0	0.0106	0.0160	0.0040	0.0040	0.0032	0.0038	0.0039	0.0037	0.0040	0.0052	0.0036	0.0035	0.0048	0.0046	0.0009	0.0022	0.0024	0.0078	0	0.0087	0.0204	0.0052	0.0081	0.0023	0.022	0.48642	D	0.124	0.35455	T	0.96	0.55278	D	0.54	0.48825	P	0.727327	0.06349	N	1.155740	1	0.08975	N	1.62	0.41497	L	0.22	0.59851	T	-4.26	0.76174	D	0.279	0.31590	-0.9096	0.46904	T	0.121	0.42187	T	10	0.0063990355	0.00145	T	0.077263	0.72728	D	0.152	0.39956	.	.	0.747323469624	0.74504	0.6557552196420782	0.65511	0.0036760046655	0.00316	0.349411666393	0.17835	T	0.490062	0.81502	T	-0.461918	0.00956	T	-0.434509	0.29423	T	0.0694968769853934	0.08580	T	0.465653	0.13651	T	0.44510096	0.63730	0.2611371	0.51887	0.44510096	0.63730	0.2611371	0.51886	-6.875	0.53114	T	.	.	0.269	0.50306	B	.	.	1.191773	0.15830	12.13	0.94053190833927425	0.24183	0.04018	0.09450	N	AEFBI	0.056840	0.10539	N	-0.545693039121945	0.20618	1.088279	-0.739930919868381	0.15970	0.8425658	0.00271298208751002	0.09654	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.9	-1.23	0.08977	0.250000	0.18007	-0.238000	0.10617	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.4815:0.0:0.5185	8.535	0.32521	754	0.51307	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.011581	0.015152	0.009511	0.017544	0.000000	0.008621	0.009146	0.011364	0.05263	2762.83	33	chr14	24507429	.	C	G	2762.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.837;DP=910;ExcessHet=0.119;FS=3.182;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.688;SOR=0.533	GT:AD:DP:GQ:PL	0/1:80,61:141:99:1372,0,1854	17	0	2	0
chr14	31122952	31122952	C	G	exonic	HECTD1	.	nonsynonymous SNV	HECTD1:NM_015382:exon27:c.G5077C:p.D1693H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	0.0316980073351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.934e-05	0.0001	2.063e-05	1.803e-05	3.49e-05	1.341e-05	1.154e-05	1.393e-05	1.163e-05	3.011e-05	0	0	0	0	0	2.092e-05	1.669e-05	3.49e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.58626	D	0.002	0.79402	D	.	.	.	.	.	.	0.000418	0.44736	U	0.139995	1	0.81001	D	.	.	.	0.98	0.51714	T	-4.18	0.79316	D	0.744	0.81063	-0.8830	0.49521	T	0.196	0.55056	T	10	0.5129209	0.62201	D	0.031698	0.53716	D	0.393	0.70844	0.231	0.15855	0.626327245455	0.62328	0.3888103266673907	0.38796	1.60696827796	0.88818	0.917501449585	0.98127	D	0.125463	0.45119	T	0.113686	0.65732	D	-0.0744746	0.65305	T	0.993387579917908	0.84163	D	0.939306	0.77145	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.912	0.86720	P	.;.;.;.	.;.;.;.	5.354639	0.89813	31	0.99573649763884109	0.72561	0.99034	0.90260	D	AEFDGBI	0.895527	0.83563	D	0.343005611180877	0.58371	4.008926	0.466956206363015	0.65813	4.87146	1.0	0.98316	0.741868	0.97996	0	0.724815	0.89359	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	7.886000	0.85793	7.682000	0.65344	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.263	0.93965	592	0.68746	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.0625	90.79	98	chr14	31122952	.	C	G	90.79	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-2.329;DP=1494;ExcessHet=0;FS=397.841;InbreedingCoeff=-0.21;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=1.03;ReadPosRankSum=2.08;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,24:88:98:.:.:98,0,1191:.	7	0	1	11
chr14	38255062	38255062	T	G	exonic	CLEC14A	.	nonsynonymous SNV	CLEC14A:NM_175060:exon1:c.A961C:p.I321L	.	429	1076	17	0	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	0.0002	0.00219649	0.0013	0	0.0008	0	0.0005	0.0005	0.0033	0.0067	0.0011902	184	154602	rs61978105	0.0008	0.0008	0.0006	0.0010	0.0069	0.0007	0.0007	0.0064	0.0063	5.974e-05	0.0004	3.826e-05	2.519e-05	0.0003	0.0016	0.0004	0.0009	0.0069	0.0006	0.0006	0.0004	0.0007	0.0091	0.0005	0.0004	0.0070	0.0062	0.0002	0	0.0002	0	0	0	0	0.0005	0.0005	0.0091	0.911	0.02361	T	0.295	0.20680	T	0.0	0.02946	B	0.002	0.06944	B	0.988061	0.08049	N	0.991542	1	0.08975	N	0	0.06538	N	-0.74	0.73205	T	-0.2	0.10136	N	0.135	0.13198	-0.9810	0.34771	T	0.163	0.49947	T	10	0.0037222505	0.00069	T	.	.	.	0.048	0.13305	.	.	0.505273739051	0.50166	0.4426464782934207	0.44181	0.644264083522	0.57927	0.295977711678	0.09804	T	0.00455	0.03958	T	-0.576646	0.00202	T	-0.598199	0.12962	T	0.0109830861373963	0.00158	T	0.344566	0.07542	T	0.03638276	0.04465	0.02778151	0.00957	0.03638276	0.04465	0.02778151	0.00957	-2.553	0.06154	T	.	.	0.063	0.01491	B	.	.	0.770729	0.11407	8.018	0.59527053556242371	0.06245	0.00549	0.02518	N	AEFDGBCIJ	0.065160	0.12693	N	-1.2051695825246	0.04923	0.2232804	-1.17206182257454	0.06380	0.3069224	0.999999871510651	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.606814	0.37721	0	0.56214	0.19341	0	.	.	4.16	2.25	0.27340	1.332000	0.33410	0.604000	0.19959	-0.153000	0.12021	0.016000	0.19238	0.855000	0.27430	0.003000	0.05239	0.0:0.1988:0.5906:0.2106	6.524	0.21490	807	0.43470	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.001359	0.005848	0.000000	0.000000	0.009146	0.015152	0.02632	2577.33	38	chr14	38255062	.	T	G	2577.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.028;DP=815;ExcessHet=0;FS=1.274;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.31;ReadPosRankSum=-0.769;SOR=0.775	GT:AD:DP:GQ:PL	0/1:63,95:158:99:2591,0,1694	18	0	1	0
chr14	55044322	55044325	AGTT	-	exonic	SOCS4	.	frameshift deletion	SOCS4:NM_080867:exon2:c.1281_1284del:p.V428Efs*21,SOCS4:NM_199421:exon3:c.1281_1284del:p.V428Efs*21	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.116e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs749490375	4.859e-05	4.857e-05	1.771e-05	7.98e-05	0.0008	3.928e-05	3.606e-05	0.0006	0.0006	0	0	0	0	0	0.0004	8.996e-07	3.313e-05	0.0008	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05263	2107.79	33	chr14	55044321	.	AAGTT	A	2107.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.19;DP=737;ExcessHet=0.119;FS=3.421;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.21;ReadPosRankSum=0.547;SOR=1.017	GT:AD:DP:GQ:PL	0/1:36,34:70:99:1319,0,1409	17	0	2	0
chr14	63313059	63313059	C	T	exonic	GPHB5	.	nonsynonymous SNV	GPHB5:NM_145171:exon3:c.G262A:p.E88K	.	428	1075	19	0	0	19	0.0087598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0074	0.00299521	0.0118	0.0029	0.0034	0	0.0104	0.0167	0.0019	0.0096	0.007335	1134	154602	rs140208070	0.0092	0.0092	0.0092	0.0092	0.0106	0.0090	0.0090	0.0104	0.0103	0.0014	0.0023	0.0010	0	0.0068	0.0064	0.0106	0.0079	0.0071	0.0064	0.0064	0.0067	0.0061	0.0107	0.0061	0.0059	0.0101	0.0098	0.0015	0	0.0045	0.0009	0	0.0059	0.0136	0.0107	0.0090	0.0052	.	.	.	0.09	0.40267	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.52029	.	.	.	.	.	.	.	0.00864172	0.00196	T	.	.	.	.	.	.	.	0.208000267992	0.20380	0.7607400504344858	0.76022	.	.	0.629467666149	0.57069	T	0.644089	0.89120	D	-0.254147	0.13596	T	-0.127453	0.61186	T	.	.	.	0.89941	0.64770	D	0.32825628	0.55328	0.5613041	0.74616	0.32825628	0.55328	0.5613041	0.74617	-5.362	0.40552	T	.	.	0.113	0.22318	B	.;.	.;.	3.507455	0.49099	22.7	0.91543240544178084	0.20821	0.89906	0.50682	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.994200222936474	0.33533	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.075334	0.01956	0	0.964718	0.68002	5.85	5.85	0.93663	2.954000	0.48806	4.864000	0.45499	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.159	0.98128	834	0.38640	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005544	0.000000	0.002717	0.011696	0.000000	0.008621	0.006135	0.007576	0.02632	2479.33	35	chr14	63313059	.	C	T	2479.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.65;DP=826;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=1.53;SOR=0.775	GT:AD:DP:GQ:PL	0/1:100,100:200:99:2493,0,2189	18	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,43:133:99:.:.:405,0,1656:.	2	0	15	2
chr14	64741163	64741163	A	G	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon16:c.A1646G:p.Q549R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.029206481235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.218	0.38891	T	0.191	0.29411	B	0.075	0.29395	B	0.189636	0.16881	N	0.568738	0.999978	0.18612	N	2.44	0.70756	M	1.39	0.33842	T	-1.56	0.37759	N	0.078	0.05287	-1.0099	0.26949	T	0.097	0.36341	T	10	0.12687853	0.24123	T	0.029206	0.51759	D	0.035	0.08770	0.232	0.16005	0.275641507738	0.27180	0.09246894349422317	0.09178	0.149573838096	0.16864	0.298473656178	0.10174	T	0.012129	0.22475	T	-0.195957	0.21389	T	-0.519255	0.20370	T	0.25838041305542	0.23244	T	0.586341	0.21576	T	0.09345937	0.21950	0.116837904	0.28206	0.09345937	0.21950	0.116837904	0.28205	-3.4	0.15259	T	.	.	0.063	0.04723	B	.;.;.;.;.	.;.;.;.;.	0.898232	0.12718	9.241	0.974221759870318	0.33880	0.68646	0.33881	D	AEFDGBI	0.101688	0.20418	N	-0.375956416506255	0.26328	1.436076	-0.352903583814075	0.26419	1.459149	0.999878317961822	0.44625	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.49	4.32	0.50899	1.361000	0.33740	0.336000	0.17333	0.740000	0.86194	0.772000	0.29380	0.001000	0.17328	0.090000	0.17789	0.839:0.161:0.0:0.0	10.605	0.44582	407	0.82314	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1404.33	38	chr14	64741163	.	A	G	1404.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.727;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=-1.939;SOR=0.722	GT:AD:DP:GQ:PL	0/1:57,58:115:99:1418,0,1568	18	0	1	0
chr14	67789467	67789467	C	G	exonic	ZFYVE26	.	nonsynonymous SNV	ZFYVE26:NM_015346:exon16:c.G2887C:p.V963L	Spastic paraplegia 15, autosomal recessive, Autosomal recessive	0	1486	36	0	0	36	0.0119681	.	.	.	186194	not_provided|Hereditary_spastic_paraplegia_15|not_specified|Hereditary_spastic_paraplegia|Spastic_paraplegia	MedGen:C3661900|MONDO:MONDO:0010044,MedGen:C1849128,OMIM:270700,Orphanet:100996|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	.	0.0068	0.00579073	0.0076	0.0023	0.0087	0	0.0023	0.0102	0.0067	0.0063	0.0074643	1154	154602	rs116890187	0.0076	0.0076	0.0075	0.0076	0.0101	0.0074	0.0074	0.0080	0.0076	0.0014	0.0085	0.0312	0	0.0030	0.0101	0.0077	0.0088	0.0059	0.0061	0.0061	0.0063	0.0060	0.0082	0.0058	0.0057	0.0075	0.0073	0.0015	0.0077	0.0082	0.0288	0.0002	0.0035	0.0170	0.0081	0.0062	0.0070	0.249	0.17239	T	0.154	0.32040	T	0.323	0.33082	B	0.073	0.28123	B	0.000137	0.49741	D	0.135046	0.948201	0.37600	D	.	.	.	1.88	0.26445	T	-0.2	0.11913	N	0.282	0.31925	-1.0803	0.07291	T	0.044	0.18824	T	10	0.006394297	0.00145	T	.	.	.	0.040	0.10527	.	.	0.195762928549	0.19159	0.29534988246284377	0.29447	0.294966467055	0.31910	0.441502094269	0.30782	T	0.008366	0.07688	T	-0.478341	0.00756	T	-0.450485	0.27644	T	0.00486648123826206	0.00052	T	0.840916	0.51656	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.46261	B	.;.	.;.	1.828140	0.23228	15.94	0.98282560967596055	0.39870	0.88251	0.48095	D	AEFGBI	0.122124	0.23712	N	0.0833295425353199	0.45685	2.820986	0.233454900218796	0.51713	3.351511	0.935564017875048	0.27218	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.8	4.73	0.59485	2.746000	0.47143	0.795000	0.21604	0.599000	0.40250	0.994000	0.38300	0.249000	0.23905	0.972000	0.54974	0.0:0.9241:0.0:0.0759	15.756	0.77798	183	0.92871	.;.	.	.	.	.	.	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	0.010574	0.025253	0.013587	0.002924	0.000000	0.008621	0.003049	0.011364	0.02632	1487.33	40	chr14	67789467	.	C	G	1487.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.825;DP=783;ExcessHet=0;FS=0.632;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=0.445;SOR=0.756	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1501,0,1756	18	0	1	0
chr14	73523082	73523082	C	G	exonic	HEATR4	.	nonsynonymous SNV	HEATR4:NM_203309:exon2:c.G71C:p.G24A,HEATR4:NM_001220484:exon3:c.G71C:p.G24A	.	419	1097	6	0	0	6	0.00272727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00391561415509	.	.	8.713e-06	0	0	0	0	0	0	6.121e-05	6.5e-06	1	154602	rs569097038	5.477e-06	5.472e-06	5.45e-06	5.505e-06	0.0002	2.36e-06	1.7e-06	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	1.799e-06	3.312e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.91255	T	0.481	0.92824	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	1.905	0.50856	L	2.43	0.15261	T	-1.04	0.74051	N	0.114	0.10198	-1.0517	0.13926	T	0.035	0.14900	T	6	0.10360113	0.19055	T	0.003916	0.09211	T	0.050	0.13987	0.492	0.57890	0.104622674875	0.10061	0.1233926964988219	0.12265	0.127972661917	0.14428	0.261129111052	0.05026	T	0.004018	0.03433	T	-0.336603	0.05626	T	-0.620654	0.11135	T	0.0470685239065122	0.04978	T	0.618838	0.25884	T	0.047517207	0.08134	0.06737587	0.13930	0.047517207	0.08134	0.06737587	0.13930	-3.459	0.15863	T	.	.	0.131	0.38117	B	.;.;.;.;.	.;.;.;.;.	0.404403	0.07755	4.439	0.73845343284727227	0.10476	0.21438	0.21402	N	AEFDI	0.065027	0.12660	N	-0.320699243092785	0.28362	1.563771	-0.333926726554193	0.27011	1.495884	0.849234308283226	0.25012	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.6	3.77	0.42499	0.891000	0.27944	0.380000	0.17770	-0.223000	0.07921	0.032000	0.20554	0.005000	0.19230	0.028000	0.12845	0.0:0.7473:0.165:0.0877	7.688	0.27716	271	0.89373	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1812.83	86	chr14	73523082	.	C	G	1812.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.22;DP=876;ExcessHet=0.119;FS=3.21;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.33;ReadPosRankSum=0.573;SOR=0.444	GT:AD:DP:GQ:PL	0/1:37,31:68:99:968,0,1007	17	0	2	0
chr14	73961263	73961263	G	A	exonic	COQ6	.	nonsynonymous SNV	COQ6:NM_182476:exon9:c.G982A:p.A328T,COQ6:NM_182480:exon9:c.G907A:p.A303T	Coenzyme Q10 deficiency, primary, 6, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	211683	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.056	0.0159652514301	.	0.000199681	0.0003	0	0	0	0	0	0	0.0023	0.0002458	38	154602	rs564107029	0.0001	0.0001	6.942e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	2.987e-05	0	0	0	0	0.0003	2.698e-06	8.279e-05	0.0022	6.567e-05	6.561e-05	3.855e-05	9.401e-05	0.0017	3.514e-05	2.615e-05	0.0008	0.0006	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0017	0.527	0.13262	T	0.596	0.08390	T	0.03	0.47557	B	0.102	0.45259	B	0.000099	0.51296	D	0.205916	0.965309	0.81001	D	1.1	0.28011	L	0.9	0.55945	T	-0.45	0.23156	N	0.118	0.10769	-1.0039	0.28785	T	0.143	0.46495	T	10	0.015718043	0.00330	T	0.015965	0.36990	T	0.056	0.15993	0.508	0.60386	0.574533306093	0.57122	0.4916409407676685	0.49085	0.717079257178	0.62030	0.333456277847	0.15455	T	0.072606	0.40940	T	-0.365236	0.03843	T	-0.30327	0.44378	T	0.0974821506386098	0.12078	T	0.875712	0.61484	D	0.08172785	0.18793	0.09306714	0.21963	0.0805524	0.18464	0.10137892	0.24267	-4.329	0.37865	T	.	.	0.071	0.07841	B	.;.;.;.	.;.;.;.	3.417220	0.47432	22.5	0.99252660754251565	0.56924	0.95684	0.65718	D	AEFGBI	0.522804	0.54666	D	0.0710670105650485	0.45117	2.773631	0.224800470244578	0.51227	3.307092	0.999603626330051	0.40866	0.732398	0.92422	0	0.577304	0.33150	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.33	5.33	0.75683	3.383000	0.52206	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1439:0.8561:0.0	14.777	0.69359	401	0.82673	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3817.83	33	chr14	73961263	.	G	A	3817.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.025;DP=854;ExcessHet=0.119;FS=2.734;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=1.89;SOR=0.55	GT:AD:DP:GQ:PL	0/1:61,69:130:99:1841,0,1715	17	0	2	0
chr14	74809473	74809473	G	C	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon7:c.G4615C:p.V1539L	.	431	1049	41	1	0	43	0.0200841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	.	0.0042	0.00219649	0.0062	0.0016	0.0046	0	0.0046	0.0079	0.0114	0.0065	0.0041655	644	154602	rs139645102	0.0054	0.0054	0.0055	0.0054	0.0247	0.0053	0.0053	0.0214	0.0202	0.0014	0.0039	0.0040	2.578e-05	0.0044	0.0247	0.0058	0.0056	0.0055	0.0039	0.0039	0.0041	0.0037	0.0059	0.0036	0.0035	0.0054	0.0052	0.0010	0	0.0030	0.0066	0.0002	0.0034	0.0170	0.0059	0.0066	0.0056	0.369	0.11586	T	0.685	0.13634	T	.	.	.	.	.	.	0.428077	0.12784	N	0.712848	0.999986	0.21372	N	.	.	.	.	.	.	0.12	0.05917	N	0.202	0.22357	-0.9815	0.34655	T	0.018	0.07706	T	9	0.0050153434	0.00108	T	.	.	.	0.099	0.28413	0.246	0.18139	0.043077524339	0.03247	0.3544232962056145	0.35356	0.114460003441	0.12903	0.421121537685	0.27990	T	0.002439	0.01836	T	-0.629407	0.00096	T	-0.670337	0.07586	T	0.0014493992208708	0.00015	T	0.756024	0.37907	T	0.08233242	0.18962	0.07522694	0.16541	0.08233242	0.18961	0.07522694	0.16541	-2.789	0.08082	T	.	.	0.099	0.22282	B	.;.	.;.	1.066790	0.14488	11.06	0.90336484123853977	0.19601	0.67940	0.33616	D	AEFGBI	0.145081	0.26821	N	-0.930382740093858	0.10136	0.4829762	-0.779091164806651	0.15007	0.787145	0.418820137012474	0.20274	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.18	-3.3	0.04692	-0.159000	0.10043	0.795000	0.21604	0.618000	0.50648	0.781000	0.29485	0.996000	0.32793	0.997000	0.79791	0.5994:0.2743:0.1263:0.0	6.547	0.21609	707	0.57054	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.022155	0.020202	0.017663	0.038012	0.000000	0.086207	0.009146	0.007576	0.07895	4187.79	34	chr14	74809473	.	G	C	4187.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.69;DP=967;ExcessHet=0.3672;FS=0.393;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.035;SOR=0.729	GT:AD:DP:GQ:PL	0/1:68,56:124:99:1487,0,1801	16	0	3	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	.	.	.	.	.	.	.	.	0.2368	459.9	207	chr14	78297852	.	G	A	459.9	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-3.965;DP=2827;ExcessHet=5.3738;FS=251.731;InbreedingCoeff=-0.327;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.61;SOR=13.567	GT:AD:DP:GQ:PL	0/1:84,39:139:42:42,0,1252	10	0	9	0
chr14	91273529	91273529	A	G	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon30:c.T5183C:p.F1728S	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	725853	not_provided|Spinocerebellar_ataxia_type_40|Hydrocephalus,_nonsyndromic,_autosomal_recessive_1	MedGen:C3661900|MONDO:MONDO:0014475,MedGen:C4518336,OMIM:616053,Orphanet:423275|MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.079	.	0.0052	0.00559105	0.0019	0.0209	0.0007	0	0	3.171e-05	0.0025	0	0.0016494	255	154602	rs7145583	0.0004	0.0005	0.0005	0.0004	0.0173	0.0004	0.0004	0.0161	0.0156	0.0173	0.0006	0	0	0	0.0002	1.123e-05	0.0009	4.095e-05	0.0054	0.0055	0.0056	0.0052	0.0186	0.0051	0.0050	0.0176	0.0171	0.0186	0	0.0027	0	0	0	0	8.83e-05	0.0028	0	0.051	0.41096	T	0.728	0.22828	T	0.242	0.30930	B	0.154	0.34351	B	0.133580	0.18546	U	0.410931	0.991989	0.26148	N	2.3	0.65703	M	0.84	0.47477	T	-5.21	0.83763	D	0.686	0.69213	-1.0370	0.18233	T	0.062	0.25958	T	10	0.0065525174	0.00148	T	.	.	.	0.079	0.23065	.	.	0.590315534784	0.58708	0.2936350168542314	0.29276	0.329577118065	0.35066	0.309077650309	0.11767	T	0.128776	0.45665	T	-0.546495	0.00306	T	-0.542183	0.18081	T	0.0241909031714759	0.01169	T	0.780822	0.41560	T	0.14962676	0.34101	0.20227353	0.44247	0.15102406	0.34352	0.19858123	0.43697	-2.617	0.06633	T	.	.	0.432	0.61316	A	.;.	.;.	2.046355	0.26014	16.97	0.97408929087248752	0.33815	0.74569	0.36482	D	AEFBCI	0.215870	0.34118	N	-0.271095742827129	0.30269	1.686208	-0.248749473309994	0.29814	1.673478	0.925816677103314	0.26829	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.7	3.52	0.39415	2.718000	0.46904	3.990000	0.40980	0.691000	0.84096	1.000000	0.71638	0.987000	0.30940	0.027000	0.12703	0.6516:0.1293:0.0:0.2191	6.903	0.23474	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2507.33	36	chr14	91273529	.	A	G	2507.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.802;DP=931;ExcessHet=0;FS=5.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=0.151;SOR=0.657	GT:AD:DP:GQ:PL	0/1:100,104:204:99:2521,0,2594	18	0	1	0
chr14	91289113	91289113	A	G	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon25:c.T4433C:p.V1478A	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	441704	Spinocerebellar_ataxia_type_40|Hydrocephalus,_nonsyndromic,_autosomal_recessive_1|not_specified|not_provided	MONDO:MONDO:0014475,MedGen:C4518336,OMIM:616053,Orphanet:423275|MONDO:MONDO:0009360,MedGen:C3887608,OMIM:236600,Orphanet:2185|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.035	.	0.0057	0.00559105	0.0019	0.0229	0.0009	0	0	3.267e-05	0.0012	0.0001	0.0016817	260	154602	rs201222692	0.0005	0.0005	0.0005	0.0004	0.0175	0.0005	0.0004	0.0163	0.0158	0.0175	0.0010	0	0	0	0.0002	6.297e-06	0.0011	5.8e-05	0.0057	0.0057	0.0058	0.0056	0.0197	0.0054	0.0053	0.0186	0.0181	0.0197	0	0.0025	0	0	0	0	7.368e-05	0.0033	0	1.0	0.00964	T	0.776	0.04387	T	0.0	0.02946	B	0.0	0.01387	B	0.278448	0.03818	N	1.781660	1	0.08975	N	0.77	0.19370	N	2.5	0.14408	T	0.48	0.03041	N	0.047	0.01911	-1.0184	0.24236	T	0.007	0.02360	T	10	0.002591908	0.00039	T	.	.	.	0.035	0.08770	.	.	0.112648838833	0.10856	0.1203829956037625	0.11965	0.157523746145	0.17784	0.214435428381	0.01013	T	0.010881	0.09774	T	-0.63587	0.00088	T	-0.670564	0.07573	T	0.000683994578658421	0.00006	T	0.110089	0.00824	T	0.013204622	0.00052	0.017584797	0.00035	0.017501118	0.00278	0.01500554	0.00005	-2.717	0.07447	T	.	.	0.064	0.01577	B	.	.	-0.746823	0.01217	0.061	0.35087435588331639	0.02182	0.01817	0.05653	N	AEFDGBI	0.021531	0.00969	N	-1.9301514497861	0.00297	0.01276841	-2.01806007055581	0.00281	0.01237718	0.999999989310826	0.74766	0.719381	0.83141	0	0.577304	0.33150	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.57	-11.0	0.00133	-0.033000	0.12196	-1.647000	0.04992	-1.775000	0.00659	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.295:0.3007:0.3343:0.07	5.222	0.14696	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	0.001011	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	765.33	34	chr14	91289113	.	A	G	765.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.733;DP=725;ExcessHet=0;FS=2.215;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=-0.685;SOR=1.046	GT:AD:DP:GQ:PL	0/1:33,31:64:99:779,0,817	18	0	1	0
chr14	92007650	92007650	T	G	exonic	TRIP11	.	nonsynonymous SNV	TRIP11:NM_001321851:exon10:c.A1514C:p.E505A,TRIP11:NM_004239:exon10:c.A1517C:p.E506A	Achondrogenesis, type IA, Autosomal recessive	225	1292	3	2	0	7	0.00270166	.	.	.	433989	not_provided|Achondrogenesis,_type_IA|Connective_tissue_disorder|not_specified	MedGen:C3661900|MONDO:MONDO:0008701,MedGen:C0265273,OMIM:200600,Orphanet:932,Orphanet:93299|MONDO:MONDO:0003900,MedGen:C0009782|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.196	.	0.0093	0.0153754	0.0066	0.0264	0.0017	0.0071	0	0.0002	0.0033	0.0262	0.0060607	937	154602	rs2273186	0.0025	0.0025	0.0020	0.0030	0.0268	0.0025	0.0024	0.0253	0.0248	0.0268	0.0018	0	0.0037	0	0.0026	0.0002	0.0047	0.0238	0.0083	0.0084	0.0084	0.0082	0.0250	0.0079	0.0078	0.0237	0.0232	0.0250	0	0.0024	0	0.0073	0	0.0068	0.0003	0.0066	0.0240	0.0	0.91255	D	0.006	0.70582	D	0.998	0.73220	D	0.929	0.66367	D	0.000000	0.84330	D	0.000000	0.999673	0.48205	D	2.82	0.82106	M	3.41	0.05574	T	-2.56	0.55339	D	0.471	0.50688	-0.6865	0.61071	T	0.157	0.48891	T	10	0.008237064	0.00187	T	.	.	.	0.196	0.47777	.	.	0.311387274539	0.30754	0.2233592934776277	0.22250	0.523518099655	0.50058	0.494267821312	0.38031	T	0.12948	0.45778	T	-0.444874	0.01210	T	-0.392883	0.34213	T	0.115267241626062	0.13962	T	0.824018	0.48536	T	0.5757454	0.71376	0.4665094	0.69045	0.5757454	0.71377	0.4665094	0.69046	-6.114	0.47223	T	0.5417541670725102	0.61131	0.162	0.35849	B	.	.	4.178489	0.62890	24.5	0.99369611690440784	0.61368	0.98814	0.87202	D	AEFBI	0.609001	0.59836	D	0.024442422058752	0.42968	2.599118	0.0405560930377334	0.41617	2.50335	0.956381682905652	0.28244	0.706548	0.73137	0	0.708844	0.79440	0	0.463624	0.06942	0	0.714379	0.83352	0	.	.	6.04	3.63	0.40741	6.586000	0.73956	4.299000	0.42935	-0.147000	0.12262	1.000000	0.71638	1.000000	0.68203	0.750000	0.35786	0.0:0.0:0.251:0.749	13.185	0.59100	670	0.60992	.	.	.	.	.	.	Likely benign	0	0	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	0.009063	0.020202	0.008152	0.008772	0.000000	0.008621	0.003049	0.015152	0.05263	1974.83	33	chr14	92007650	.	T	G	1974.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.04;DP=728;ExcessHet=0.119;FS=0.822;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.31;ReadPosRankSum=0.455;SOR=0.836	GT:AD:DP:GQ:PL	0/1:23,28:51:99:817,0,656	17	0	2	0
chr14	94079701	94079701	G	C	exonic	DDX24	.	nonsynonymous SNV	DDX24:NM_020414:exon2:c.C42G:p.S14R	.	424	1071	27	0	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0065	0.0277556	0.0123	0.0146	0.0017	0.1013	0.0020	0.0024	0.0033	0.0161	0.011507	1779	154602	rs79048773	0.0068	0.0068	0.0067	0.0068	0.0997	0.0067	0.0066	0.0971	0.0960	0.0155	0.0014	0	0.0997	0.0022	0.0069	0.0031	0.0107	0.0132	0.0100	0.0100	0.0095	0.0104	0.0966	0.0095	0.0094	0.0896	0.0868	0.0144	0.0462	0.0031	0	0.0966	0.0012	0	0.0032	0.0080	0.0168	0.147	0.24955	T	0.372	0.16376	T	0.003	0.11197	B	0.003	0.08700	B	0.964301	0.08202	N	0.987490	1	0.08975	N	2.085	0.57729	M	3.99	0.03268	T	-0.65	0.18877	N	0.131	0.12627	-0.9147	0.46259	T	0.001	0.00188	T	10	0.0021772683	0.00031	T	.	.	.	0.037	0.09474	0.276	0.22845	.	.	0.0776385997468939	0.07699	0.127185870883	0.14337	0.280981421471	0.07629	T	0.042187	0.26101	T	-0.752249	0.00017	T	-0.766477	0.02886	T	0.00278525104741722	0.00029	T	.	.	.	0.095035546	0.22357	0.064616844	0.12978	0.095035546	0.22357	0.064616844	0.12978	-2.312	0.04621	T	.	.	0.115	0.44796	B	.;.	.;.	1.433556	0.18522	13.78	0.61265338611876752	0.06666	0.40099	0.26361	N	AEFDBCI	.	.	.	-0.898693380233533	0.10873	0.5217948	-0.900289976453744	0.12087	0.6197318	0.999983851827432	0.51787	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	5.91	3.14	0.35196	0.608000	0.23921	1.261000	0.25231	-0.127000	0.13314	0.000000	0.06391	0.001000	0.17328	0.066000	0.16387	0.3123:0.0:0.6877:0.0	7.909	0.28941	361	0.84870	.;.	.	.	.	.	rs79048773	Uncertain significance	0	0	0	0	0	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	0.005435	0.014620	0.000000	0.008621	0.000000	0.015152	0.02632	1886.33	33	chr14	94079701	.	G	C	1886.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.989;DP=802;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=1.48;SOR=0.728	GT:AD:DP:GQ:PL	0/1:79,76:155:99:1900,0,2157	18	0	1	0
chr14	94100772	94100772	G	A	splicing	IFI27L1	NM_145249:exon3:c.61+1G>A;NM_206949:exon3:c.61+1G>A	.	.	.	415	1075	30	2	0	34	0.0155678	1.0000	0.934	.	2402208	Susceptibility_to_severe_COVID-19	.	no_assertion_criteria_provided	Likely_risk_allele	.	.	.	.	.	.	.	.	.	.	0.0002	0.00199681	0.0015	9.804e-05	0.0004	0	0	0.0010	0.0044	0.0066	0.0013519	209	154602	rs144379529	0.0010	0.0010	0.0008	0.0013	0.0136	0.0010	0.0010	0.0112	0.0103	8.963e-05	0.0006	0.0031	2.519e-05	1.882e-05	0.0136	0.0006	0.0016	0.0069	0.0009	0.0009	0.0006	0.0011	0.0062	0.0007	0.0007	0.0045	0.0039	7.228e-05	0	0.0021	0.0032	0.0002	0	0.0102	0.0007	0.0009	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.221173	0.17834	T	-0.0861905	0.64448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.107629	0.41902	21.4	0.98652801330732154	0.44220	0.48862	0.28303	N	AEFGBI	.	.	.	0.660259185449755	0.77032	6.597697	0.388974521407639	0.60886	4.281241	0.999999705434156	0.74766	0.294411	0.05044	0	0.332522	0.05826	0	0.175069	0.04249	0	0.092715	0.02821	0	0.92792	0.58901	2.98	2.98	0.33575	1.002000	0.29397	2.846000	0.35110	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.066000	0.16387	0.0:0.0:1.0:0.0	9.821	0.40051	365	0.84644	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1275.33	40	chr14	94100772	.	G	A	1275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.072;DP=851;ExcessHet=0;FS=2.341;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.115;SOR=0.639	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1289,0,1631	18	0	1	0
chr14	94290332	94290332	G	A	exonic	SERPINA10	.	stopgain	SERPINA10:NM_001100607:exon2:c.C262T:p.R88X,SERPINA10:NM_016186:exon2:c.C262T:p.R88X	.	406	1043	67	6	0	79	0.0364896	.	.	.	967233	not_provided|LAMB2-related_infantile-onset_nephrotic_syndrome	MedGen:C3661900|MONDO:MONDO:0013621,MedGen:C3280113,OMIM:614199,Orphanet:306507	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0053	0.00539137	0.0075	0.0024	0.0081	0.0002	0.0015	0.0075	0.0088	0.0162	0.0002689	7	26028	rs2232698	0.0066	0.0066	0.0061	0.0070	0.0695	0.0065	0.0064	0.0639	0.0617	0.0027	0.0069	0.0196	0.0002	0.0015	0.0695	0.0056	0.0090	0.0160	0.0053	0.0053	0.0051	0.0055	0.0139	0.0050	0.0049	0.0112	0.0102	0.0016	0	0.0076	0.0202	0.0002	0.0011	0.0748	0.0063	0.0104	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	0.000033	0.55875	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.86085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147132	0.68998	D	0.450892	0.93599	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.;.	.;High;.;.	7.984329	0.97058	36	0.99821763425602916	0.90414	0.76946	0.37781	D	AEFBCI	0.382980	0.46466	N	0.319043072116327	0.57125	3.878893	0.0876574291364291	0.43925	2.684392	0.999858293275741	0.44174	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	4.87	3.04	0.34171	1.993000	0.40367	0.274000	0.16691	0.373000	0.20310	0.981000	0.35396	0.000000	0.08366	0.730000	0.35099	0.1556:0.0:0.5649:0.2795	5.893	0.18165	923	0.18507	Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor;Serpin domain|Serpin domain|Protein Z-dependent peptidase inhibitor	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.056898	0.040404	0.059783	0.108187	0.000000	0.077586	0.039634	0.026515	0.05263	3403.83	51	chr14	94290332	.	G	A	3403.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.46;DP=1206;ExcessHet=0.119;FS=3.864;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.854;SOR=0.916	GT:AD:DP:GQ:PL	0/1:96,81:177:99:2033,0,2360	17	0	2	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:95,51:146:99:604,0,1745	1	0	17	1
chr14	104943110	104943110	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A12041G:p.Q4014R,AHNAK2:NM_138420:exon7:c.A12341G:p.Q4114R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.00192871787206	.	0.00199681	0.0002	0.0016	8.639e-05	0.0001	0	0	0	0.0007	0.0003842	10	26028	rs578153196	4.798e-05	0.0002	3.273e-05	6.339e-05	0.0007	3.867e-05	3.547e-05	0.0005	0.0004	0.0007	0	0	2.526e-05	0	0.0003	4.502e-06	4.982e-05	0.0004	0.0002	0.0006	0.0002	0.0001	0.0005	0.0001	9.411e-05	0.0003	0.0003	0.0005	0	6.656e-05	0	0.0002	0	0	0	0.0010	0	0.614	0.05404	T	0.552	0.09361	T	0.73	0.42641	P	0.547	0.49095	P	0.193674	0.03268	N	5.581720	1	0.08975	N	0.255	0.09829	N	5.94	0.00616	T	-0.49	0.15578	N	0.032	0.00825	-0.8940	0.48577	T	0.003	0.00832	T	10	0.010619253	0.00236	T	0.001929	0.03430	T	0.101	0.28911	.	.	0.0138822411134	0.00435	0.003946682079942893	0.00369	.	.	0.1950930655	0.00328	T	0.017491	0.14263	T	-0.675439	0.00051	T	-0.834547	0.01184	T	0.0374936032062193	0.03242	T	0.142186	0.01152	T	0.014614942	0.00101	0.023362888	0.00350	0.014614942	0.00100	0.023362888	0.00350	-0.421	0.00537	T	.	.	0.078	0.06942	B	.	.	-0.437742	0.02075	0.192	0.19975960149253491	0.00698	0.02114	0.06254	N	AEFBI	.	.	.	-1.69840097774463	0.00848	0.03665968	-1.79168245048898	0.00786	0.0350779	0.00335738294692144	0.10072	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.46	-1.19	0.09091	-3.592000	0.00470	-8.117000	0.01025	-2.651000	0.00223	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.243:0.0:0.757	8.367	0.31552	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000539	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2045.33	288	chr14	104943110	.	T	C	2045.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.698;DP=5315;ExcessHet=0;FS=3.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.76;MQRankSum=-23.04;QD=3.66;ReadPosRankSum=0.752;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:471,88:559:99:0|1:104943100_C_A:2059,0,19110:104943100	18	0	1	0
chr14	104946840	104946840	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8311A:p.E2771K,AHNAK2:NM_138420:exon7:c.G8611A:p.E2871K	.	425	1031	66	0	0	66	0.031015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00516765144614	.	.	0.0001	0.0011	0	0.0001	0	1.501e-05	0	0.0001	3.84e-05	1	26028	rs765833389	5.301e-05	0.0026	3.01e-05	7.62e-05	0.0005	4.305e-05	3.978e-05	0.0003	0.0003	0.0003	2.248e-05	0	0.0005	0	0.0005	1.804e-05	0.0003	7.087e-05	0.0003	0.0066	0.0003	0.0003	0.0012	0.0002	0.0002	0.0009	0.0008	0.0012	0	0	0	0	0	0	1.491e-05	0	0.0002	0.35	0.12305	T	0.304	0.20100	T	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	1.395	0.35261	L	5.72	0.00726	T	-1.82	0.42763	N	0.042	0.01498	-0.9083	0.47061	T	0.003	0.00897	T	9	0.02272144	0.00575	T	0.005168	0.13156	T	0.053	0.14996	.	.	0.0138822411134	0.00435	0.01070317848971027	0.01031	.	.	0.231759011745	0.02101	T	0.021887	0.16970	T	-0.38292	0.02986	T	-0.787815	0.02225	T	0.0484263979648418	0.05219	T	0.553645	0.19140	T	0.027281942	0.01897	0.058093388	0.10674	0.027281942	0.01897	0.058093388	0.10674	-8.163	0.62175	D	.	.	0.151	0.33365	B	.	.	0.952869	0.13291	9.792	0.63652803078570641	0.07281	0.04330	0.09889	N	AEFBI	.	.	.	-1.56462695524314	0.01451	0.06330527	-1.61025239373678	0.01594	0.07229178	1.11558074033666E-4	0.05269	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	1.0	0.18999	-0.219000	0.09233	-2.557000	0.03611	-2.359000	0.00306	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7292:0.0:0.2708	7.453	0.26421	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002041	0.000000	0.002717	0.000000	0.000000	0.008621	0.000000	0.003876	0.05263	1585.83	182	chr14	104946840	.	C	T	1585.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.189;DP=4432;ExcessHet=0.119;FS=13.576;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.75;MQRankSum=-9.129;QD=2.1;ReadPosRankSum=-3.925;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,31:340:99:0|1:104946840_C_T:313,0,12743:104946840	17	0	2	0
chr14	104946844	104946844	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A8307C:p.Q2769H,AHNAK2:NM_138420:exon7:c.A8607C:p.Q2869H	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00456934809247	.	0.00199681	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	0.0001035	16	154602	rs549959692	0.0010	0.0031	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0003	6.734e-05	0.0007	0.0003	0.0049	0.0002	0.0010	0.0009	0.0001	0.0009	0.0062	0.0008	0.0010	0.0009	0.0008	0.0007	0.0008	0.0007	0.0007	0	0.0001	0.0012	0	0.0031	0	0.0009	0.0005	0	0.199	0.20456	T	0.044	0.49663	D	0.222	0.30359	B	0.126	0.32692	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	5.72	0.00726	T	-1.02	0.26843	N	0.054	0.02559	-0.9209	0.45431	T	0.001	0.00467	T	9	0.009157479	0.00207	T	0.004569	0.11283	T	0.008	0.00669	0.25	0.18757	0.0138822411134	0.00435	0.006695173993302265	0.00637	.	.	0.236160099506	0.02455	T	0.021859	0.16951	T	-0.663042	0.00060	T	-0.765724	0.02911	T	0.0259420974383474	0.01398	T	0.327667	0.06803	T	0.02251858	0.00921	0.035413582	0.02789	0.02251858	0.00921	0.035413582	0.02789	-4.563	0.31703	T	.	.	0.164	0.36234	B	.	.	-0.466991	0.01975	0.172	0.80392660186174825	0.13181	0.00383	0.01935	N	AEFBI	.	.	.	-1.48234254240428	0.01974	0.08670879	-1.54650334495513	0.02000	0.09137707	2.74653825623093E-4	0.06300	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.7	0.05651	-1.316000	0.02818	-20.000000	0.00162	-4.377000	0.00031	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5322:0.2016:0.2662	7.447	0.26386	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001020	0.000000	0.001359	0.000000	0.000000	0.000000	0.003185	0.000000	0.05263	1417.83	182	chr14	104946844	.	T	G	1417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.736;DP=4405;ExcessHet=0.119;FS=11.656;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.6;MQRankSum=-9.179;QD=1.85;ReadPosRankSum=-3.824;SOR=1.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,29:346:99:0|1:104946840_C_T:227,0,13117:104946840	17	0	2	0
chr14	104946846	104946846	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C8305G:p.Q2769E,AHNAK2:NM_138420:exon7:c.C8605G:p.Q2869E	.	423	1048	51	0	0	51	0.0237541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00601287222755	.	.	0.0013	0.0014	8.639e-05	0.0001	0.0036	0.0017	0	0.0001	2.59e-05	4	154602	rs765081436	0.0010	0.0027	0.0010	0.0009	0.0010	0.0009	0.0009	0.0009	0.0009	0.0002	6.728e-05	0.0007	0.0002	0.0049	0.0002	0.0010	0.0007	9.387e-05	0.0009	0.0051	0.0008	0.0009	0.0009	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0001	0.0012	0	0.0030	0	0.0009	0.0005	0	0.83	0.02884	T	0.617	0.07518	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.115	0.04602	N	5.84	0.00647	T	0.89	0.01641	N	0.02	0.00308	-0.9529	0.40468	T	0.001	0.00255	T	9	0.009065419	0.00205	T	0.006013	0.15698	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0016092417742788088	0.00148	.	.	0.228061407804	0.01827	T	0.016132	0.13395	T	-0.648084	0.00074	T	-0.744237	0.03715	T	0.00364170349492424	0.00039	T	0.339966	0.07337	T	0.02530059	0.01453	0.03273809	0.02056	0.02530059	0.01453	0.03273809	0.02056	-2.714	0.07421	T	.	.	0.060	0.01011	B	.	.	-0.105849	0.03606	0.709	0.30481252660818753	0.01669	0.00077	0.00530	N	AEFBI	.	.	.	-1.80290082682248	0.00538	0.02316779	-1.74440261055854	0.00955	0.04273961	1.08048917805001E-4	0.05123	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-0.215	0.12510	0.146000	0.16000	-10.489000	0.00696	-0.266000	0.06809	0.237000	0.24716	0.000000	0.08366	0.000000	0.00833	0.0:0.5285:0.3634:0.1081	6.202	0.19793	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000510	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003846	0.05263	1199.83	182	chr14	104946846	.	G	C	1199.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.192;DP=4401;ExcessHet=0.119;FS=15.603;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.76;MQRankSum=-8.204;QD=1.58;ReadPosRankSum=-4.039;SOR=1.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,26:338:99:0|1:104946840_C_T:153,0,13023:104946840	17	0	2	0
chr14	104946849	104946849	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8302A:p.A2768T,AHNAK2:NM_138420:exon7:c.G8602A:p.A2868T	.	422	1059	41	0	0	41	0.0189903	.	.	.	3409374	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.040	0.0032799704562	.	.	0.0002	0.0010	8.639e-05	0.0005	0	9.003e-05	0.0011	0.0003	0.000207	32	154602	rs781609751	0.0001	0.0012	8.323e-05	0.0001	0.0047	8.739e-05	8.224e-05	0.0033	0.0029	9.104e-05	4.479e-05	7.66e-05	0.0002	0	0.0047	6.395e-05	0.0003	0.0002	0.0002	0.0037	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0.0001	0.0003	0.0004	0	0.0070	8.894e-05	0.0005	0.0002	0.048	0.40068	D	0.231	0.25061	T	0.028	0.19712	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	2.395	0.69210	M	5.55	0.00874	T	-0.82	0.22508	N	0.065	0.03726	-0.8556	0.51577	T	0.004	0.01400	T	9	0.026404798	0.00808	T	0.00328	0.07268	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.002754179350592718	0.00256	.	.	0.210492774844	0.00832	T	0.022204	0.17162	T	-0.324054	0.06571	T	-0.703257	0.05649	T	0.0342946946823724	0.02687	T	0.329367	0.06881	T	0.02186054	0.00812	0.049946822	0.07739	0.02186054	0.00811	0.049946822	0.07738	-7.621	0.58457	D	.	.	0.101	0.17445	B	.	.	0.282115	0.06588	3.080	0.90699426532362137	0.19950	0.01201	0.04282	N	AEFBI	.	.	.	-1.17912363358261	0.05316	0.2420568	-1.34729888941916	0.03838	0.1798289	1.51879746510354E-4	0.05650	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	2.86	-2.0	0.07024	-1.956000	0.01613	-14.507000	0.00400	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3038:0.3553:0.1498:0.191	0.865	0.01125	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	0.006122	0.000000	0.001359	0.026627	0.000000	0.017241	0.000000	0.000000	0.05263	888.83	182	chr14	104946849	.	C	T	888.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.82;DP=4414;ExcessHet=0.119;FS=15.93;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.83;MQRankSum=-8.605;QD=1.15;ReadPosRankSum=-4.102;SOR=1.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,25:350:71:0|1:104946840_C_T:71,0,13571:104946840	17	0	2	0
chr14	104947539	104947539	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G7612A:p.D2538N,AHNAK2:NM_138420:exon7:c.G7912A:p.D2638N	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.00586241466403	0.0031	0.00219649	0.0009	0.0099	0.0003	0	0	1.499e-05	0	0.0002	0.0008473	131	154602	rs202164616	0.0003	0.0003	0.0003	0.0003	0.0094	0.0003	0.0003	0.0085	0.0082	0.0094	0.0009	0	0	0	0.0010	1.259e-05	0.0011	0.0002	0.0029	0.0029	0.0029	0.0029	0.0098	0.0027	0.0026	0.0090	0.0087	0.0098	0	0.0019	0	0	0	0	2.951e-05	0.0034	0	0.013	0.53900	D	0.023	0.57104	D	0.976	0.58310	D	0.5	0.47649	P	.	.	.	.	0.999998	0.58761	D	2.41	0.69639	M	4.71	0.01655	T	-2.01	0.46337	N	0.045	0.01740	-0.9696	0.37283	T	0.009	0.03096	T	9	0.0057708323	0.00129	T	0.005862	0.15251	T	0.130	0.35528	.	.	0.0401082797425	0.02173	0.005805992069040916	0.00550	.	.	0.238156884909	0.02626	T	0.027827	0.20292	T	-0.675243	0.00051	T	-0.733321	0.04179	T	0.0458813776780495	0.04762	T	0.711729	0.32279	T	0.037088655	0.04688	0.049358774	0.07525	0.037088655	0.04688	0.049358774	0.07524	-8.031	0.61281	D	.	.	0.115	0.22933	B	.	.	1.170408	0.15603	11.97	0.99665289920795452	0.78202	0.05900	0.11851	N	AEFBI	.	.	.	-0.350951600074021	0.27237	1.492754	-0.564613488891995	0.20418	1.099997	0.077260475337194	0.15753	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.03	3.03	0.34070	-0.164000	0.09972	-1.977000	0.04403	-1.847000	0.00575	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:1.0:0.0:0.0	11.203	0.47982	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	.	.	.	.	.	.	.	.	0.02632	4742.33	247	chr14	104947539	.	C	T	4742.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=5043;ExcessHet=0;FS=1.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.43;MQRankSum=2.28;QD=11.24;ReadPosRankSum=2.33;SOR=0.595	GT:AD:DP:GQ:PL	0/1:242,180:422:99:4756,0,6070	18	0	1	0
chr14	104950538	104950538	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4613T:p.A1538V,AHNAK2:NM_138420:exon7:c.C4913T:p.A1638V	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	0.0032	0.0179712	0.0066	0.0113	0.0028	0.0447	0.0008	0.0019	0.0068	0.0077	0.0068004	177	26028	rs185154010	0.0038	0.0039	0.0038	0.0038	0.0311	0.0037	0.0037	0.0296	0.0290	0.0096	0.0026	0.0009	0.0311	0.0008	0.0026	0.0022	0.0096	0.0087	0.0065	0.0068	0.0062	0.0067	0.0490	0.0061	0.0060	0.0439	0.0420	0.0098	0	0.0029	0.0003	0.0490	0.0009	0.0035	0.0023	0.0100	0.0200	0.174	0.22486	T	0.273	0.22154	T	0.486	0.36871	P	0.23	0.38212	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	6.54	0.00525	T	-1.38	0.34198	N	0.05	0.02179	-0.9705	0.37094	T	0.000	0.00114	T	9	0.003598839	0.00065	T	.	.	.	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0014970766985751634	0.00138	.	.	0.216862082481	0.01137	T	0.020729	0.16269	T	-0.699695	0.00037	T	-0.73686	0.04024	T	0.00540246813598207	0.00059	T	0.343166	0.07474	T	0.027432075	0.01935	0.038549893	0.03748	0.027432075	0.01935	0.038549893	0.03747	-5.533	0.42176	T	.	.	0.074	0.05274	B	.	.	-0.790880	0.01125	0.052	0.9503705482766367	0.26039	0.01896	0.05817	N	AEFBI	.	.	.	-1.33397493956742	0.03294	0.146895	-1.45999011727532	0.02681	0.1237557	2.62773855013347E-4	0.06244	0.67177	0.52595	0	0.588015	0.36545	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	2.59	-2.85	0.05392	0.636000	0.24333	-11.791000	0.00575	-0.566000	0.04804	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3492:0.0:0.4924:0.1584	4.426	0.10931	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004881	0.005435	0.002732	0.000000	0.000000	0.008621	0.006410	0.000000	0.07895	16116.8	316	chr14	104950538	.	G	A	16116.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=5.39;DP=5937;ExcessHet=0;FS=0.563;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=51.18;MQRankSum=-17.92;QD=22.32;ReadPosRankSum=-3.889;SOR=0.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,108:345:99:0|1:104950501_C_A:3804,0,9585:104950501	17	1	1	0
chr14	104951699	104951699	A	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T3452G:p.M1151R,AHNAK2:NM_138420:exon7:c.T3752G:p.M1251R	.	760	761	1	0	0	1	0.000656599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00671222132657	0.0005	0.000798722	0.0004	0.0013	0	0.0022	0	0.0002	0	0	0.0002975	46	154602	rs371153345	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	9.486e-05	0.0013	0.0012	0.0006	2.441e-05	0	0.0016	0	0	4.209e-05	0.0002	0	0.0006	0.0009	0.0005	0.0006	0.0039	0.0004	0.0004	0.0025	0.0021	0.0010	0	0.0003	0	0.0039	0	0	0.0001	0.0013	0	0.03	0.45393	D	0.262	0.22895	T	0.994	0.66517	D	0.808	0.58514	P	.	.	.	.	1	0.81001	D	2.275	0.64647	M	4.93	0.01395	T	-2.94	0.61435	D	0.404	0.44474	-1.0005	0.29774	T	0.015	0.05849	T	9	0.012310952	0.00265	T	0.006712	0.17727	T	0.141	0.37795	.	.	0.158396225186	0.15383	0.06467401083279146	0.06406	.	.	0.317640602589	0.13063	T	0.146132	0.48358	T	-0.463724	0.00931	T	-0.440673	0.28733	T	0.0573338404090408	0.06742	T	0.270173	0.04542	T	0.35176724	0.57204	0.37396824	0.62572	0.35176724	0.57204	0.37396824	0.62572	-7.214	0.55582	T	.	.	0.395	0.59285	A	.	.	1.693271	0.21574	15.26	0.67672346076508361	0.08425	0.86205	0.45441	D	AEFBI	.	.	.	0.0750068912806343	0.45297	2.78875	-0.0891998814256335	0.35835	2.077999	0.0013177447082987	0.08437	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.42	3.27	0.36580	1.552000	0.35852	-0.977000	0.06726	-0.111000	0.15049	0.309000	0.25405	0.000000	0.08366	0.001000	0.02609	0.9069:0.0:0.0931:0.0	8.744	0.33736	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	.	.	.	.	.	.	.	.	0.05	1923.21	.	chr14	104951699	.	A	C	1923.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.28;DP=1323;ExcessHet=0;FS=18.129;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.1;MQ=58.72;MQRankSum=-2.076;QD=9.91;ReadPosRankSum=-1.131;SOR=1.201	GT:AD:DP:GQ:PL	0/1:127,67:194:99:1932,0,5013	9	0	1	9
chr14	104951730	104951730	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G3421A:p.G1141S,AHNAK2:NM_138420:exon7:c.G3721A:p.G1241S	.	754	764	2	2	0	6	0.00391134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00251995281677	0.0017	0.00159744	0.0006	0.0042	0.0004	0.0002	0	0.0002	0	0.0003	0.0004334	67	154602	rs200273508	0.0003	0.0003	0.0004	0.0003	0.0052	0.0003	0.0003	0.0046	0.0043	0.0052	0.0004	0	0.0004	0	0.0021	0.0001	0.0005	0.0003	0.0015	0.0019	0.0016	0.0015	0.0045	0.0014	0.0013	0.0040	0.0038	0.0045	0	0.0002	0	0.0014	0	0	8.106e-05	0	0.0003	0.377	0.11298	T	0.246	0.23984	T	0.998	0.73220	D	0.655	0.52639	P	.	.	.	.	1	0.08975	N	1.285	0.32305	L	4.8	0.01528	T	-1.08	0.28084	N	0.103	0.08646	-0.9962	0.30974	T	0.004	0.01400	T	9	0.0061048567	0.00137	T	0.00252	0.05037	T	0.080	0.23350	.	.	0.0297737177859	0.01360	0.02281908609190794	0.02233	.	.	0.191016212106	0.00243	T	0.020962	0.16408	T	-0.534179	0.00363	T	-0.706151	0.05495	T	0.0119928000018635	0.00189	T	0.471053	0.13966	T	0.026507443	0.01716	0.03882467	0.03837	0.026507443	0.01715	0.03882467	0.03837	-6.39	0.49432	T	.	.	0.077	0.06205	B	.	.	-0.426025	0.02117	0.201	0.86860659341103663	0.16823	0.00541	0.02492	N	AEFBI	.	.	.	-0.885565658441834	0.11185	0.5384241	-1.05574658164785	0.08587	0.4229556	1.03221811172246E-4	0.05123	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	3.77	0.949	0.18691	-2.567000	0.00991	-20.000000	0.00162	-1.852000	0.00570	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6401:0.0:0.3599	5.696	0.17126	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1057.21	.	chr14	104951730	.	C	T	1057.21	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.81;DP=1367;ExcessHet=0;FS=27.316;InbreedingCoeff=-0.0526;MLEAC=2;MLEAF=0.1;MQ=57.93;MQRankSum=-2.23;QD=5.48;ReadPosRankSum=-4.983;SOR=1.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,39:193:99:0|1:104951730_C_T:1066,0,6299:104951730	9	0	1	9
chr14	104951745	104951745	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G3406C:p.V1136L,AHNAK2:NM_138420:exon7:c.G3706C:p.V1236L	.	719	802	1	0	0	1	0.000623053	.	.	.	3258538	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.020	0.0037430351315	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs763728740	1.509e-05	5.101e-05	1.762e-05	1.252e-05	9.266e-05	9.19e-06	7.51e-06	2.455e-05	1.28e-05	9.266e-05	4.874e-05	0	7.604e-05	0	0	8.406e-06	4.2e-05	0	5.742e-05	0.0004	3.215e-05	8.375e-05	0.0006	2.682e-05	1.831e-05	0.0002	8.893e-05	0.0001	0	0	0	0.0006	0	0	0	0	0	1.0	0.00964	T	0.537	0.09863	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.235	0.03917	N	6.0	0.00603	T	0.17	0.05125	N	0.068	0.04072	-0.9330	0.43695	T	0.001	0.00467	T	9	0.024112135	0.00652	T	0.003743	0.08682	T	0.020	0.03691	0.321	0.30064	0.0297737177859	0.01360	0.007304074053131901	0.00696	.	.	0.197014629841	0.00375	T	0.016453	0.13597	T	-0.385717	0.02866	T	-0.791832	0.02115	T	0.0109651878389543	0.00158	T	0.244176	0.03564	T	0.019949442	0.00538	0.037261385	0.03343	0.019949442	0.00537	0.037261385	0.03342	-1.982	0.03114	T	.	.	0.092	0.13737	B	.	.	-1.476418	0.00309	0.005	0.15592558760652989	0.00387	0.00376	0.01908	N	AEFBI	.	.	.	-2.29036613925226	0.00048	0.00205228	-2.39166664708917	0.00041	0.001805878	0.976985836982257	0.29777	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.23	-8.45	0.00826	-2.219000	0.01301	-20.000000	0.00162	-3.019000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1097:0.3995:0.4907	10.730	0.45292	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	.	.	.	.	.	.	.	.	0.02632	329.63	5	chr14	104951745	.	C	G	329.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.71;DP=1452;ExcessHet=0;FS=21.59;InbreedingCoeff=-0.0436;MLEAC=1;MLEAF=0.026;MQ=57.08;MQRankSum=-3.091;QD=1.78;ReadPosRankSum=-5.151;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,20:185:99:0|1:104951730_C_T:343,0,6868:104951730	18	0	1	0
chr14	104951747	104951747	T	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A3404C:p.H1135P,AHNAK2:NM_138420:exon7:c.A3704C:p.H1235P	.	776	734	5	7	0	19	0.0127774	.	.	.	2807559	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.046	.	.	0.0814696	0.0021	0.0001	0	0.0001	0.0053	0.0029	0.0014	0.0023	0.0041138	636	154602	rs200111548	0.0016	0.0017	0.0016	0.0017	0.0031	0.0016	0.0016	0.0027	0.0026	0.0002	0.0002	0.0040	0.0001	0.0037	0.0024	0.0016	0.0010	0.0031	0.0015	0.0019	0.0014	0.0017	0.0035	0.0013	0.0012	0.0020	0.0019	0.0002	0	8.728e-05	0.0057	0.0008	0.0039	0	0.0024	0	0.0035	0.125	0.27310	T	0.189	0.28575	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.66	0.42513	L	5.2	0.01165	T	-1.48	0.36189	N	0.093	0.07262	-0.9534	0.40380	T	0.005	0.01688	T	9	0.002612114	0.00040	T	.	.	.	0.046	0.12618	.	.	0.0482279557977	0.04254	0.023238207525798724	0.02275	.	.	0.19338272512	0.00291	T	0.020247	0.15979	T	-0.67014	0.00055	T	-0.73319	0.04185	T	0.00639344042875613	0.00071	T	0.207779	0.02478	T	0.072987065	0.16277	0.09436399	0.22333	0.072987065	0.16277	0.09436399	0.22333	-0.28	0.00464	T	.	.	0.065	0.02038	B	.	.	-0.512059	0.01828	0.145	0.46837614528374028	0.03782	0.07256	0.13280	N	AEFBI	.	.	.	-1.47001028310493	0.02064	0.09075691	-1.51507154559753	0.02228	0.1021436	1.1683795851115E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.23	0.341	0.15229	-0.595000	0.05822	-2.676000	0.03479	-1.675000	0.00794	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.4683:0.5317	10.865	0.46054	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	1	0	0.002674	0.000000	0.003311	0.011236	0.000000	0.020833	0.000000	0.000000	0.05	205.3	9	chr14	104951747	.	T	G	205.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.23;DP=1510;ExcessHet=0;FS=20.48;InbreedingCoeff=0.448;MLEAC=2;MLEAF=0.1;MQ=56.98;MQRankSum=-3.529;QD=1.12;ReadPosRankSum=-4.618;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,17:183:99:0|1:104951730_C_T:214,0,6919:104951730	9	0	1	9
chr14	104952240	104952240	G	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C2911G:p.L971V,AHNAK2:NM_138420:exon7:c.C3211G:p.L1071V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	.	.	0.0263578	0.0090	0.0298	0.0034	0.0361	0.0021	0.0017	0.0112	0.0183	0.0008732	135	154602	rs201871830	6.524e-05	0.0015	6.97e-05	6.075e-05	0.0009	5.45e-05	5.061e-05	0.0005	0.0004	0.0007	0.0001	0	0.0003	1.88e-05	0.0009	1.801e-05	0.0003	0.0001	0.0005	0.0078	0.0006	0.0005	0.0025	0.0004	0.0004	0.0014	0.0011	0.0014	0	0.0003	0	0.0025	9.535e-05	0.0074	4.485e-05	0	0.0013	0.603	0.05584	T	0.589	0.08245	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.16	0.08945	N	5.76	0.00695	T	-0.41	0.14000	N	0.093	0.07262	-0.8568	0.51491	T	0.001	0.00408	T	9	0.0031139255	0.00052	T	.	.	.	0.044	0.11924	0.26	0.20315	0.0297737177859	0.01360	0.0025048685426689856	0.00232	.	.	0.181649789214	0.00110	T	0.020324	0.16021	T	-0.374297	0.03383	T	-0.775428	0.02594	T	0.000253335798148228	0.00002	T	0.279272	0.04852	T	0.014677103	0.00103	0.024301512	0.00448	0.014677103	0.00103	0.024301512	0.00447	-0.714	0.00732	T	.	.	0.067	0.02370	B	.	.	-3.143251	0.00007	0.001	0.49393409051630993	0.04202	0.00122	0.00764	N	AEFDBI	.	.	.	-3.54864545972126	0.00000	3.202762e-06	-3.59441405111093	0.00000	3.736556e-06	1.0	0.98316	0.706548	0.73137	0	0.588015	0.36545	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.74	-7.47	0.01221	-4.250000	0.00303	-20.000000	0.00162	-12.057000	0.00000	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1326:0.4562:0.1897:0.2215	4.564	0.11571	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	677.83	91	chr14	104952240	.	G	C	677.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.626;DP=2677;ExcessHet=0.119;FS=115.271;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.96;MQRankSum=-10.65;QD=2.11;ReadPosRankSum=-5.015;SOR=5.837	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,12:115:99:0|1:104952198_C_G:194,0,4289:104952198	17	0	2	0
chr14	104953122	104953122	-	GGGGCCCCTGACTTCCACCTG	exonic	AHNAK2	.	nonframeshift insertion	AHNAK2:NM_001350929:exon7:c.2028_2029insCAGGTGGAAGTCAGGGGCCCC:p.P676_K677insQVEVRGP,AHNAK2:NM_138420:exon7:c.2328_2329insCAGGTGGAAGTCAGGGGCCCC:p.P776_K777insQVEVRGP	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.791e-06	1.231e-05	5.448e-06	4.127e-06	8.991e-05	1.99e-06	1.28e-06	2.382e-05	1.26e-05	8.991e-05	0	0	7.578e-05	0	0	0	1.657e-05	0	1.992e-05	0.0003	2.598e-05	1.358e-05	7.373e-05	5.3e-06	2.47e-06	1.955e-05	1.042e-05	7.373e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	855.29	91	chr14	104953122	.	T	TGGGGCCCCTGACTTCCACCTG	855.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.81;DP=1954;ExcessHet=0;FS=16.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.99;MQRankSum=0.025;QD=4.53;ReadPosRankSum=-8.478;SOR=1.719	GT:AD:DP:GQ:PL	0/1:156,33:189:99:869,0,6421	18	0	1	0
chr14	105411717	105411717	C	T	exonic	TEX22	.	nonsynonymous SNV	TEX22:NM_001195082:exon4:c.C337T:p.L113F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0465114263012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.273e-07	1.368e-06	0	1.474e-06	9.308e-07	0	0	.	.	0	0	0	0	0	0	9.308e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.14743	T	0.404	0.14818	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	-0.82	0.22508	N	0.054	0.02559	-1.0271	0.21396	T	0.029	0.12409	T	8	0.02892822	0.01022	T	0.046511	0.62494	D	0.149	0.39377	0.231	0.15855	0.0138822411134	0.00435	0.002349448647716089	0.00217	.	.	0.499840497971	0.38805	T	0.005289	0.04740	T	-0.346614	0.04943	T	-0.735663	0.04075	T	0.0821454892291156	0.10259	T	0.290971	0.05319	T	0.048224535	0.08370	0.048941053	0.07375	0.048224535	0.08369	0.048941053	0.07375	-4.78	0.34357	T	.	.	0.061	0.01179	B	.	.	0.228287	0.06097	2.543	0.89764703519514044	0.19081	0.00748	0.03114	N	AEFDGBCI	0.019903	0.00734	N	-1.84748061096877	0.00439	0.01888723	-1.92333178462986	0.00440	0.01946408	0.999999999104378	0.74766	0.582742	0.33608	0	0.541168	0.11318	0	0.606884	0.38211	0	0.618803	0.45993	0	.	.	2.67	-5.35	0.02488	-0.265000	0.08671	-0.551000	0.08528	-1.006000	0.01785	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3536:0.4618:0.0:0.1846	4.395	0.10789	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	.	.	.	.	.	.	.	.	0.02632	1574.33	36	chr14	105411717	.	C	T	1574.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.894;DP=746;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=3.19;SOR=0.637	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1588,0,1398	18	0	1	0
chr14	105498701	105498703	CAG	-	exonic	TEDC1	.	nonframeshift deletion	TEDC1:NM_001134876:exon7:c.937_939del:p.Q314del,TEDC1:NM_001134875:exon8:c.1036_1038del:p.Q347del,TEDC1:NM_001134877:exon8:c.814_816del:p.Q273del,TEDC1:NM_001198983:exon8:c.820_822del:p.Q275del,TEDC1:NM_001367178:exon9:c.1243_1245del:p.Q416del	.	415	1103	4	0	0	4	0.00180995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0020	0.0005	0	0	0	0.0001	0.0054	0.0046	0.0003074	8	26028	rs1166042634	0.0004	0.0004	0.0003	0.0005	0.0045	0.0004	0.0004	0.0041	0.0039	3.139e-05	5.562e-05	0	0	0	0.0004	0.0002	0.0004	0.0045	0.0002	0.0002	0.0001	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	4.811e-05	0	0	0	0	0	0.0068	0.0002	0.0005	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001561	0.000000	0.000000	0.003106	0.000000	0.000000	0.000000	0.003846	0.02632	1529.29	36	chr14	105498700	.	ACAG	A	1529.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=731;ExcessHet=0;FS=5.68;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=-0.184;SOR=1.309	GT:AD:DP:GQ:PL	0/1:42,40:82:99:1543,0,1638	18	0	1	0
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	434.18	45	chr15	20534664	.	CT	*	434.18	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.28;DP=1323;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.6889;MLEAC=14;MLEAF=0.389;MQ=51.72;MQRankSum=0.854;QD=0.68;ReadPosRankSum=-3.234;SOR=0.835	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,4:37:77:.:.:77,0,1330:.	4	0	14	1
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	434.55	45	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	*	434.55	.	AC=14;AF=0.412;AN=34;BaseQRankSum=0.882;DP=1318;ExcessHet=20.8569;FS=1.158;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.441;MQ=51.07;MQRankSum=1.13;QD=0.68;ReadPosRankSum=-3.191;SOR=0.824	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,4:37:77:.:.:77,0,1330:.	3	0	14	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	327.06	45	chr15	20534693	.	T	*	327.06	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.078;DP=1294;ExcessHet=25.4433;FS=1.177;InbreedingCoeff=-0.7344;MLEAC=15;MLEAF=0.395;MQ=50.05;MQRankSum=0.956;QD=0.47;ReadPosRankSum=-1.583;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,4:37:77:.:.:77,0,1330:.	4	0	15	0
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	276.96	45	chr15	20534699	.	CCTCCTG	*	276.96	.	AC=15;AF=0.395;AN=38;BaseQRankSum=0.808;DP=1281;ExcessHet=25.4433;FS=1.176;InbreedingCoeff=-0.7274;MLEAC=15;MLEAF=0.395;MQ=40.86;MQRankSum=-1.387;QD=0.4;ReadPosRankSum=0.802;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,4:37:77:.:.:77,0,1330:.	4	0	15	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,46:46:99:1498,138,0	0	13	3	3
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	688.52	2	chr15	22768275	.	C	*	688.52	.	AC=10;AF=0.385;AN=26;DP=84;ExcessHet=0.002;FS=0;InbreedingCoeff=0.5212;MLEAC=12;MLEAF=0.462;MQ=56.28;QD=15.65;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:12:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:138,12,0:22768260	7	4	2	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	75.48	2	chr15	22768302	.	T	*	75.48	.	AC=10;AF=0.357;AN=28;DP=68;ExcessHet=0.0004;FS=0;InbreedingCoeff=0.4151;MLEAC=13;MLEAF=0.464;MQ=52.45;MQRankSum=-0.842;QD=3.77;ReadPosRankSum=-0.524;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:11:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:245,21,0:22768260	8	4	2	5
chr15	23360525	23360525	C	T	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon9:c.C140T:p.S47L	.	451	1067	4	0	0	4	0.00187091	.	.	.	2817210	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	0.000829952493026	.	0.00139776	0.0060	0.0043	0	0	0	0.0096	0	0	0.0015752	41	26028	rs530525459	0.0057	0.0048	0.0057	0.0056	0.0076	0.0055	0.0055	0.0074	0.0073	0.0008	0.0025	0.0098	8.283e-05	0.0049	0.0035	0.0076	0.0055	0.0004	0.0046	0.0048	0.0048	0.0045	0.0075	0.0044	0.0042	0.0070	0.0068	0.0013	0	0.0025	0.0115	0	0.0050	0	0.0075	0.0029	0.0002	0.123	0.27544	T	0.219	0.25987	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.84	0.24656	T	-3.83	0.72120	D	0.168	0.17828	.	.	.	.	.	.	.	0.0069929957	0.00159	T	8.3E-4	0.00691	T	.	.	.	.	0.321951552304	0.31805	0.13112575204652033	0.13037	1.60003286907	0.88681	.	.	.	.	.	.	-0.581526	0.00189	T	-0.603673	0.12505	T	.	.	.	0.784422	0.42203	T	0.09226086	0.21641	0.08733565	0.20293	0.09226086	0.21640	0.08733565	0.20292	-8.787	0.66316	D	.	.	0.178	0.38906	B	.	.	1.331529	0.17371	13.12	0.97371931595454919	0.33627	0.00864	0.03432	N	AEFI	0.026239	0.01936	N	.	.	.	.	.	.	1.14060480934259E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.848	-0.151	0.12755	1.535000	0.35667	-0.410000	0.09352	0.294000	0.18828	0.955000	0.33325	0.000000	0.08366	0.002000	0.04165	0.0:0.7584:0.0:0.2416	5.047	0.13825	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	696.33	34	chr15	23360525	.	C	T	696.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=672;ExcessHet=0;FS=4.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.38;MQRankSum=-0.358;QD=14.51;ReadPosRankSum=1.15;SOR=1.483	GT:AD:DP:GQ:PL	0/1:23,25:48:99:710,0,547	18	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,72:123:99:.:.:4638,1762,1955:.	0	0	19	0
chr15	23567269	23567269	A	G	exonic	MKRN3	.	nonsynonymous SNV	MKRN3:NM_005664:exon1:c.A1487G:p.H496R	Precocious puberty, central, 2, Autosomal dominant	411	1109	2	0	0	2	0.000900901	.	.	.	2672660	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.00501067901983	.	.	8.243e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs749506944	1.437e-05	1.436e-05	1.906e-05	9.625e-06	0.0007	9.23e-06	7.84e-06	0.0002	0.0001	0	0	0	0	0	0.0007	1.349e-05	3.311e-05	0	1.97e-05	1.968e-05	0	4.028e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.089	0.32141	T	0.013	0.63109	D	0.001	0.07471	B	0.001	0.04355	B	0.084519	0.20693	N	0.434930	0.999889	0.26457	N	1.385	0.34509	L	1.4	0.33630	T	-1.79	0.42191	N	0.148	0.15046	-1.0661	0.10293	T	0.044	0.19111	T	10	0.12103766	0.22937	T	0.005011	0.12660	T	0.082	0.23913	0.545	0.65873	0.446510307777	0.44274	0.7882468241997728	0.78776	0.0790116083533	0.08888	0.296896159649	0.09940	T	0.09437	0.39401	T	-0.408135	0.02045	T	-0.716377	0.04972	T	0.121248312294483	0.14551	T	0.575442	0.20674	T	0.060658608	0.12471	0.058872778	0.10952	0.060658608	0.12471	0.058872778	0.10952	-2.732	0.07575	T	.	.	0.107	0.20117	B	.	.	0.473787	0.08434	5.190	0.51827510795360099	0.04634	0.53537	0.29396	D	AEDBCI	0.154493	0.27953	N	-1.17011412493751	0.05457	0.2488173	-1.25511036780235	0.05055	0.2399992	0.999999125197123	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.09	-6.04	0.01995	0.713000	0.25464	0.607000	0.19990	-0.041000	0.17446	0.974000	0.34632	0.001000	0.17328	0.068000	0.16518	0.216:0.2538:0.259:0.2713	0.370	0.00351	994	0.00715	E3 ubiquitin-protein ligase makorin 1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2469.33	34	chr15	23567269	.	A	G	2469.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.145;DP=846;ExcessHet=0;FS=4.407;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.19;ReadPosRankSum=-1.032;SOR=1.012	GT:AD:DP:GQ:PL	0/1:79,95:174:99:2483,0,1948	18	0	1	0
chr15	25370988	25370988	C	T	exonic	UBE3A	.	nonsynonymous SNV	UBE3A:NM_001354546:exon3:c.G1009A:p.E337K,UBE3A:NM_001354548:exon4:c.G1126A:p.E376K,UBE3A:NM_001354549:exon4:c.G1126A:p.E376K,UBE3A:NM_130838:exon4:c.G1126A:p.E376K,UBE3A:NM_001354542:exon5:c.G1126A:p.E376K,UBE3A:NM_001354505:exon6:c.G1186A:p.E396K,UBE3A:NM_001354545:exon6:c.G1186A:p.E396K,UBE3A:NM_001374461:exon6:c.G1126A:p.E376K,UBE3A:NM_130839:exon6:c.G1186A:p.E396K,UBE3A:NM_000462:exon7:c.G1195A:p.E399K,UBE3A:NM_001354508:exon7:c.G1126A:p.E376K,UBE3A:NM_001354511:exon7:c.G1126A:p.E376K,UBE3A:NM_001354512:exon7:c.G1126A:p.E376K,UBE3A:NM_001354513:exon7:c.G1126A:p.E376K,UBE3A:NM_001354523:exon7:c.G1126A:p.E376K,UBE3A:NM_001354538:exon7:c.G1186A:p.E396K,UBE3A:NM_001354539:exon7:c.G1126A:p.E376K,UBE3A:NM_001354547:exon7:c.G1126A:p.E376K,UBE3A:NM_001354506:exon8:c.G1126A:p.E376K,UBE3A:NM_001354507:exon8:c.G1126A:p.E376K,UBE3A:NM_001354509:exon8:c.G1126A:p.E376K,UBE3A:NM_001354526:exon8:c.G1126A:p.E376K,UBE3A:NM_001354541:exon8:c.G1126A:p.E376K,UBE3A:NM_001354544:exon8:c.G1126A:p.E376K,UBE3A:NM_001354540:exon9:c.G1126A:p.E376K,UBE3A:NM_001354543:exon10:c.G1126A:p.E376K	Angelman syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0632156903374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.14546	T	0.798	0.04168	T	0.95	0.53885	P	0.697	0.54061	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	-0.84	0.74265	T	-0.79	0.21860	N	0.662	0.74826	-0.6074	0.64511	T	0.342	0.70794	T	10	0.42258328	0.56963	T	0.063216	0.68897	D	0.340	0.66202	0.449	0.50957	0.402881280848	0.39899	0.5371458093378796	0.53639	1.09038453896	0.77410	0.666752576828	0.62375	T	0.127811	0.45507	T	0.142979	0.68608	D	-0.0323968	0.68209	D	0.603581189142381	0.36543	D	0.978702	0.92791	D	0.24791744	0.47774	0.28203094	0.54188	0.24791744	0.47773	0.28203094	0.54187	-5.505	0.42965	T	.	.	0.343	0.56651	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.170511	0.62707	24.5	0.9956762370448623	0.72197	0.99019	0.90044	D	AEFGBI	0.877092	0.80151	D	0.171195768447697	0.49820	3.178202	0.332471228125121	0.57457	3.911528	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	7.905000	0.86479	7.717000	0.67122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.570	0.95400	952	0.10565	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02941	51.11	41	chr15	25370988	.	C	T	51.11	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.964;DP=1585;ExcessHet=0;FS=143.978;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=-0.452;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,13:118:64:0|1:25370986_C_T:64,0,3922:25370986	16	0	1	2
chr15	25370991	25370991	C	T	exonic	UBE3A	.	nonsynonymous SNV	UBE3A:NM_001354546:exon3:c.G1006A:p.E336K,UBE3A:NM_001354548:exon4:c.G1123A:p.E375K,UBE3A:NM_001354549:exon4:c.G1123A:p.E375K,UBE3A:NM_130838:exon4:c.G1123A:p.E375K,UBE3A:NM_001354542:exon5:c.G1123A:p.E375K,UBE3A:NM_001354505:exon6:c.G1183A:p.E395K,UBE3A:NM_001354545:exon6:c.G1183A:p.E395K,UBE3A:NM_001374461:exon6:c.G1123A:p.E375K,UBE3A:NM_130839:exon6:c.G1183A:p.E395K,UBE3A:NM_000462:exon7:c.G1192A:p.E398K,UBE3A:NM_001354508:exon7:c.G1123A:p.E375K,UBE3A:NM_001354511:exon7:c.G1123A:p.E375K,UBE3A:NM_001354512:exon7:c.G1123A:p.E375K,UBE3A:NM_001354513:exon7:c.G1123A:p.E375K,UBE3A:NM_001354523:exon7:c.G1123A:p.E375K,UBE3A:NM_001354538:exon7:c.G1183A:p.E395K,UBE3A:NM_001354539:exon7:c.G1123A:p.E375K,UBE3A:NM_001354547:exon7:c.G1123A:p.E375K,UBE3A:NM_001354506:exon8:c.G1123A:p.E375K,UBE3A:NM_001354507:exon8:c.G1123A:p.E375K,UBE3A:NM_001354509:exon8:c.G1123A:p.E375K,UBE3A:NM_001354526:exon8:c.G1123A:p.E375K,UBE3A:NM_001354541:exon8:c.G1123A:p.E375K,UBE3A:NM_001354544:exon8:c.G1123A:p.E375K,UBE3A:NM_001354540:exon9:c.G1123A:p.E375K,UBE3A:NM_001354543:exon10:c.G1123A:p.E375K	Angelman syndrome, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.0398010226649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.08261	T	0.823	0.03933	T	0.532	0.37747	P	0.189	0.36295	B	0.000011	0.62929	D	0.146848	0.999809	0.52396	D	1.735	0.44892	L	-1.02	0.76300	T	-0.27	0.11366	N	0.373	0.49965	-0.6422	0.63052	T	0.276	0.64814	T	10	0.20454767	0.36650	T	0.039801	0.59014	D	0.364	0.68407	0.473	0.54859	0.291402777868	0.28757	0.45846223595384095	0.45764	1.06789217917	0.76694	0.608282506466	0.54073	T	0.110445	0.42514	T	0.0126602	0.53389	T	-0.219591	0.52776	T	0.405096530914307	0.29134	T	0.972203	0.89922	D	0.11812223	0.27836	0.14226903	0.33852	0.11812223	0.27836	0.14226903	0.33851	-5.871	0.46911	T	.	.	0.182	0.57009	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.416773	0.47423	22.5	0.99266957125593447	0.57423	0.97471	0.74963	D	AEFGBI	0.540093	0.55680	D	-0.0659086732145077	0.38893	2.285128	0.137376361171122	0.46477	2.893042	0.999999999994192	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	4.903000	0.62964	7.717000	0.67122	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.570	0.95400	952	0.10565	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	38.33	41	chr15	25370991	.	C	T	38.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.425;DP=1270;ExcessHet=0;FS=46.519;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.31;ReadPosRankSum=2.57;SOR=5.28	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,13:122:52:0|1:25370986_C_T:52,0,4079:25370986	18	0	1	0
chr15	28843102	28843143	CATCTGCTCCTCCTGCTTCCCCATCTGCTCCTCCTGCTTCCG	-	exonic	GOLGA6L7	.	nonframeshift deletion	GOLGA6L7:NM_001365371:exon9:c.961_1002del:p.R321_I617delinsGEQEEQMRKQEKQMLKQKEQMRKQEEQMWKQEEQIGEQEEQMRKQEEQMWKQEEQIGEQEEQMRKQEEQMWKQEEQMGEQMRKQEEQMGEQEEQIRKQEEQMGEQEEQMRKQEEQMGEQEEQMRKQEEQMGEQEEQMRKQEEQMGEQEEQMGEQEEQMRKQVERLQFKEERLWDEYEKMQEEEEKIRRQVEKRREKKERMGEQEKTQEERCSEPCLPPSKYPSDMSHPGSLEPAREAGKGYSHDNRTAQIMQLPPGMKNAQERPGLGSTSCIPFFYGGDKKKIKIISI*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0007	0.0008	0.0006	0.0283	0.0007	0.0006	0.0262	0.0254	0.0283	0.0030	0.0009	0.0027	0	0.0015	4.026e-05	0.0023	0.0010	0.0003	0.0014	0.0003	0.0004	0.0016	0.0003	0.0002	0.0011	0.0010	0.0016	0	9.98e-05	0	0	0	0	0	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	106.17	8	chr15	28843101	.	CCATCTGCTCCTCCTGCTTCCCCATCTGCTCCTCCTGCTTCCG	C	106.17	.	AC=1;AF=0.029;AN=34;DP=194;ExcessHet=0;FS=0;InbreedingCoeff=-0.0537;MLEAC=1;MLEAF=0.029;MQ=48.85;QD=26.54;SOR=1.609	GT:AD:DP:GQ:PL	0/1:0,4:4:63:193,0,63	16	0	1	2
chr15	28843134	28843134	C	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	378.55	10	chr15	28843134	.	C	*	378.55	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1891;MLEAC=1;MLEAF=0.028;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,4:6:72:.:.:102,0,72:.	17	0	1	1
chr15	28843135	28843135	C	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	378.71	10	chr15	28843135	.	C	*	378.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.242;DP=199;ExcessHet=1.3;FS=8.177;InbreedingCoeff=-0.1909;MLEAC=1;MLEAF=0.028;MQ=54.14;MQRankSum=-0.854;QD=8.23;ReadPosRankSum=1.97;SOR=1.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,4:6:72:.:.:102,0,72:.	17	0	1	1
chr15	28843142	28843142	C	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	387.69	11	chr15	28843142	.	C	*	387.69	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.842;DP=199;ExcessHet=1.3;FS=8.536;InbreedingCoeff=-0.1907;MLEAC=1;MLEAF=0.028;MQ=54.2;MQRankSum=-0.637;QD=8.81;ReadPosRankSum=1.46;SOR=1.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,4:6:72:.:.:102,0,72:.	17	0	1	1
chr15	30089711	30089711	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.C886G:p.P296A	.	480	1006	35	1	0	37	0.0180576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.0027425824986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879887589	0.0003	0.0020	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	6.978e-05	9.133e-05	0.0004	5.099e-05	0.0004	0.0003	0.0002	0.0002	0.0017	0.0003	0.0016	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0.0002	0.0003	0	0.0003	0.0006	0.0006	0.227	0.18498	T	0.496	0.11335	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.93	0.51437	L	2.05	0.20664	T	-3.58	0.69118	D	0.106	0.09066	-0.9630	0.38606	T	0.029	0.12541	T	6	0.094885945	0.16906	T	0.002743	0.05665	T	.	.	.	.	0.0716867268079	0.06686	0.11248298003423093	0.11177	1.31169626058	0.83235	.	.	.	0.030108	0.21421	T	-0.314437	0.07363	T	-0.689443	0.06421	T	0.199820421397174	0.20406	T	.	.	.	0.048880808	0.08589	0.08423339	0.19361	0.048880808	0.08589	0.08423339	0.19361	-6.842	0.52871	T	.	.	0.087	0.11076	B	.	.	-0.105049	0.03612	0.711	0.83777591716518451	0.14914	0.00215	0.01220	N	AEFI	0.019229	0.00649	N	-1.00919157480949	0.08412	0.3943451	-1.25831076326989	0.05009	0.2376793	7.76039442725622E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	-2.95	0.05229	-0.155000	0.10101	-2.034000	0.04313	0.283000	0.18654	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2959:0.7041:0.0	10.425	0.43559	483	0.77230	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	321.83	36	chr15	30089711	.	C	G	321.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.795;DP=662;ExcessHet=0.119;FS=3.674;InbreedingCoeff=-0.0523;MLEAC=2;MLEAF=0.053;MQ=25.47;MQRankSum=-0.325;QD=12.38;ReadPosRankSum=1.8;SOR=0.445	GT:AD:DP:GQ:PL	0/1:7,8:15:99:153,0,159	17	0	2	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	.	.	.	.	.	.	.	.	0.4091	5435.43	110	chr15	33066576	.	A	G	5435.43	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-0.723;DP=1826;ExcessHet=5.3738;FS=195.705;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.903;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,50:135:99:0|1:33066574_C_T:1466,0,3157:33066574	2	0	9	8
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,50:135:99:0|1:33066574_C_T:1466,0,3157:33066574	1	0	10	8
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	.	.	.	.	.	.	.	.	0.03333	3466.35	104	chr15	33066579	.	C	T	3466.35	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,34:130:99:.:.:1198,0,3167:.	14	0	1	4
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	3779.55	104	chr15	33066580	.	C	G	3779.55	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-3.599;DP=1781;ExcessHet=5.3738;FS=184.997;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=0.608;SOR=10.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,40:130:99:.:.:1370,0,3339:.	2	0	9	8
chr15	40302583	40302583	G	T	exonic	PLCB2	.	nonsynonymous SNV	PLCB2:NM_001284297:exon4:c.C258A:p.N86K,PLCB2:NM_001284298:exon4:c.C258A:p.N86K,PLCB2:NM_001284299:exon4:c.C258A:p.N86K,PLCB2:NM_004573:exon4:c.C258A:p.N86K	Platelet PLC beta-2 deficiency (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0157157356247	.	0.000798722	0.0005	0	0	0.0068	0	0	0	6.097e-05	0.000414	64	154602	rs57020474	0.0001	0.0001	0.0001	0.0001	0.0049	0.0001	0.0001	0.0043	0.0041	0	0	0	0.0049	0	0	0	0.0002	1.159e-05	0.0002	0.0002	0.0001	0.0003	0.0062	0.0002	0.0001	0.0045	0.0039	0	0	6.535e-05	0	0.0062	0	0	0	0	0	0.063	0.36709	T	0.335	0.55341	T	0.101	0.56973	B	0.084	0.52990	B	0.636296	0.10640	N	0.825816	0.999997	0.58761	D	2.135	0.59519	M	0.9	0.45248	T	-2.71	0.57762	D	0.705	0.80180	-0.7297	0.58979	T	0.242	0.60988	T	10	0.012681335	0.00272	T	0.015716	0.36608	T	0.166	0.42578	0.45	0.51121	0.772535888504	0.77045	0.4555934402834101	0.45477	1.03375694082	0.75506	0.702188491821	0.67460	T	0.350074	0.71784	T	-0.453632	0.01075	T	-0.420103	0.31063	T	0.145816126365995	0.16765	T	0.934107	0.76258	D	0.4193611	0.62049	0.35915723	0.61379	0.4193611	0.62049	0.35915723	0.61378	-6.745	0.52626	T	.	.	0.517	0.65355	A	.;.;.;.	.;.;.;.	3.754677	0.53839	23.4	0.99823527836047155	0.90590	0.96683	0.70384	D	AEFBHCI	0.861791	0.77993	D	0.395569881414494	0.61183	4.315852	0.444973883853452	0.64395	4.693671	0.999999999999802	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.527494	0.11647	0	0.586402	0.36253	0	.	.	4.87	4.87	0.62877	4.058000	0.57176	7.587000	0.61135	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.573	0.91095	620	0.66037	PLC-beta, PH domain;.;.;PLC-beta, PH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	747.33	38	chr15	40302583	.	G	T	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.19;DP=706;ExcessHet=0;FS=3.437;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-0.682;SOR=1.167	GT:AD:DP:GQ:PL	0/1:39,29:68:99:761,0,953	18	0	1	0
chr15	40339514	40339514	C	T	exonic	CCDC9B	.	nonsynonymous SNV	CCDC9B:NM_207380:exon3:c.G361A:p.G121S	.	.	.	.	.	.	.	.	0.0260	0.334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0117577237342	0.0002	.	4.155e-05	0	0	0	0	7.524e-05	0	0	3.23e-05	5	154602	rs370384372	4.174e-05	4.241e-05	4.63e-05	3.714e-05	4.407e-05	3.311e-05	3.002e-05	3.373e-05	3.039e-05	2.987e-05	0	0.0003	2.519e-05	1.879e-05	0	4.407e-05	1.656e-05	0	2.63e-05	2.627e-05	3.856e-05	1.346e-05	2.941e-05	8.15e-06	5.14e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0.0003	0	0	0	2.941e-05	0	0	0.072	0.34982	T	0.035	0.52389	D	1.0	0.90584	D	0.999	0.92359	D	0.000580	0.43250	D	0.101437	0.999982	0.18198	N	.	.	.	1.41	0.33412	T	-1.85	0.43334	N	0.389	0.43029	-0.9896	0.32702	T	0.170	0.51003	T	9	0.1191175	0.22534	T	0.011758	0.29704	T	.	.	.	.	0.539924557274	0.53643	0.2500812422178163	0.24922	0.39604321516	0.40719	.	.	.	0.013045	0.11355	T	-0.242639	0.15015	T	-0.406015	0.32685	T	0.246485372653457	0.22715	T	0.807119	0.45664	T	0.07021777	0.15448	0.066260606	0.13548	0.07021777	0.15447	0.066260606	0.13547	-5.907	0.45495	T	.	.	0.224	0.45569	B	.;.	.;.	3.636176	0.51531	23.1	0.99706990091452352	0.81074	0.09975	0.15605	N	AEFDGBCI	0.121555	0.23627	N	0.134206536114374	0.48063	3.023587	-0.0182410713345883	0.38890	2.297886	0.999998953555299	0.74766	0.733237	0.96898	0	0.588066	0.40923	0	0.491614	0.08109	1	0.621717	0.48901	0	.	.	5.17	1.72	0.23498	1.290000	0.32925	2.736000	0.34426	0.599000	0.40250	0.024000	0.20007	0.990000	0.31317	0.953000	0.50222	0.2057:0.4822:0.1989:0.1131	2.176	0.03627	696	0.58299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	503.33	34	chr15	40339514	.	C	T	503.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=693;ExcessHet=0;FS=1.131;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-1.721;SOR=1.042	GT:AD:DP:GQ:PL	0/1:29,20:49:99:517,0,661	18	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	303.08	34	chr15	41096253	.	G	C	303.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.902;DP=1127;ExcessHet=0.7564;FS=158.935;InbreedingCoeff=-0.1318;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.442;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,17:89:89:0|1:41096253_G_C:89,0,2013:41096253	14	0	4	1
chr15	41396769	41396769	C	A	exonic	NDUFAF1	.	nonsynonymous SNV	NDUFAF1:NM_016013:exon2:c.G291T:p.L97F	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0442147162385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.57480	T	0.14	0.92824	T	0.978	0.58756	D	0.793	0.57829	P	0.000042	0.53742	D	0.073371	0.999571	0.47641	D	2.585	0.75554	M	-0.1	0.64264	T	-1.19	0.41239	N	0.468	0.50418	-0.4117	0.71656	T	0.327	0.69547	T	10	0.4945748	0.61190	T	0.044215	0.61378	D	0.345	0.66676	0.654	0.79172	0.734446920103	0.73207	0.4828603363993807	0.48206	0.40116997535	0.41103	0.410730004311	0.26558	T	0.002253	0.26049	T	0.0428767	0.57420	T	-0.176187	0.56875	T	0.849407970905304	0.50114	D	0.79622	0.45053	T	0.123590775	0.29018	0.12005756	0.28974	0.123590775	0.29018	0.12005756	0.28974	-3.557	0.17239	T	0.22721691872451946	0.30715	0.135	0.50241	B	.;.;.	.;.;.	3.326010	0.45769	22.2	0.997869749157135	0.87308	0.92707	0.56349	D	AEFBI	0.486548	0.52567	N	0.343437844314208	0.58394	4.011341	0.251623965105747	0.52742	3.447005	0.996076650637666	0.34508	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.77	2.73	0.31266	1.269000	0.32677	1.399000	0.26181	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.869000	0.41347	0.0:0.7832:0.1385:0.0783	10.329	0.42991	136	0.94604	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2438.33	33	chr15	41396769	.	C	A	2438.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.22;DP=780;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.82;ReadPosRankSum=0.032;SOR=0.615	GT:AD:DP:GQ:PL	0/1:57,88:145:99:2452,0,1456	18	0	1	0
chr15	41846336	41846336	T	G	exonic	JMJD7-PLA2G4B;PLA2G4B	.	nonsynonymous SNV	PLA2G4B:NM_001114633:exon17:c.T1734G:p.H578Q,JMJD7-PLA2G4B:NM_001198588:exon22:c.T2427G:p.H809Q,JMJD7-PLA2G4B:NM_005090:exon22:c.T2427G:p.H809Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00301065848505	.	0.000199681	2.477e-05	0	0	0.0003	0	0	0	0	2.59e-05	4	154602	rs550553217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.305298	0.14527	N	0.639785	0.949845	0.27329	N	0.72	0.18721	N	2.63	0.12884	T	1.37	0.00867	N	0.211	0.24510	-0.9407	0.42505	T	0.012	0.04510	T	10	0.024297416	0.00664	T	0.003011	0.06457	T	0.051	0.14325	0.489	0.57415	0.0401082797425	0.02173	0.3915205488759765	0.39474	0.0266108330134	0.02719	0.328074216843	0.14643	T	0.003969	0.03383	T	-0.400757	0.02289	T	-0.587734	0.13863	T	0.021739939568549	0.00880	T	0.0983902	0.06305	T	0.037739087	0.04894	0.06372817	0.12667	0.037739087	0.04893	0.06372817	0.12667	-2.248	0.04280	T	.	.	0.178	0.41633	B	.;.;.;.	.;.;.;.	0.369137	0.07417	4.044	0.728655717195969	0.10123	0.09812	0.15482	N	AEFGBI	0.052836	0.09468	N	-1.08466656841045	0.06925	0.3201976	-1.0096912189125	0.09571	0.4769607	0.788300278652022	0.23970	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.96	-4.5	0.03247	-0.120000	0.10633	-2.536000	0.03636	0.665000	0.62972	0.746000	0.29090	0.000000	0.08366	0.982000	0.59238	0.1101:0.1497:0.561:0.1793	5.606	0.16661	238	0.90711	.;.;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain;Lysophospholipase, catalytic domain|Lysophospholipase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2357.33	41	chr15	41846336	.	T	G	2357.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.222;DP=941;ExcessHet=0;FS=3.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=-2.106;SOR=0.916	GT:AD:DP:GQ:PL	0/1:122,98:220:99:2371,0,3037	18	0	1	0
chr15	42142138	42142138	G	C	exonic	PLA2G4F	.	nonsynonymous SNV	PLA2G4F:NM_213600:exon20:c.C2396G:p.P799R	.	401	1112	9	0	0	9	0.00403045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	.	0.0011	0.0183706	0.0120	0.0013	0.0466	0.0953	0.0002	0.0003	0.0077	0.0026	0.0109184	1688	154602	rs75560163	0.0050	0.0050	0.0052	0.0048	0.1209	0.0049	0.0049	0.1180	0.1169	0.0007	0.0378	0.0004	0.1209	5.616e-05	0.0014	0.0002	0.0057	0.0029	0.0060	0.0060	0.0049	0.0072	0.1005	0.0057	0.0056	0.0933	0.0905	0.0008	0	0.0183	0.0006	0.1005	0	0.0034	0.0006	0.0095	0.0043	.	.	.	0.002	0.79402	D	0.993	0.65571	D	0.796	0.58006	P	0.000151	0.49130	D	0.086755	0.996897	0.43488	D	2.99	0.85699	M	.	.	.	.	.	.	0.204	0.22614	-1.2417	0.00014	T	0.002	0.00615	T	10	0.002361387	0.00035	T	.	.	.	0.280	0.59740	.	.	.	.	0.6424716660277365	0.64182	.	.	0.422901451588	0.28235	T	0.08251	0.36845	T	-0.165158	0.25968	T	0.0971066	0.76716	D	0.0350737961299107	0.02820	T	0.542646	0.18460	T	0.73383653	0.79940	0.7011293	0.82389	0.73383653	0.79942	0.7011293	0.82390	-8.762	0.66152	D	.	.	0.188	0.40586	B	.	.	4.469976	0.69640	25.4	0.99851060538015246	0.93013	0.97502	0.75165	D	AEFGBI	0.747923	0.68983	D	0.774230622477915	0.84469	8.296945	0.740188229893542	0.85421	8.575896	0.999999999999946	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.21	5.21	0.72005	6.110000	0.71213	8.324000	0.76967	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.0:0.0:1.0:0.0	19.130	0.93384	136	0.94604	Lysophospholipase, 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	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.003788	0.02632	1119.33	39	chr15	42142138	.	G	C	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.915;DP=793;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-0.499;SOR=0.56	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1133,0,1361	18	0	1	0
chr15	42729615	42729615	G	A	exonic	CDAN1	.	nonsynonymous SNV	CDAN1:NM_138477:exon17:c.C2360T:p.A787V	Dyserythropoietic anemia, congenital, type Ia, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	873475	Congenital_dyserythropoietic_anemia,_type_I|Anemia,_congenital_dyserythropoietic,_type_1a|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0020337,MedGen:C0271933,Orphanet:98869|MONDO:MONDO:0009135,MedGen:C5574667,OMIM:224120|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.103	0.0175297411644	0.0005	0.000998403	0.0006	9.743e-05	0.0002	0.0055	0	0.0003	0	6.085e-05	0.0005239	81	154602	rs138839403	0.0004	0.0004	0.0004	0.0004	0.0025	0.0004	0.0004	0.0021	0.0019	5.974e-05	0.0003	7.653e-05	0.0025	1.872e-05	0.0002	0.0004	0.0003	6.956e-05	0.0004	0.0004	0.0004	0.0003	0.0050	0.0003	0.0003	0.0035	0.0030	7.231e-05	0	0.0003	0	0.0050	0	0	0.0003	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.019810	0.27175	N	0.464879	0.99998	0.18612	N	-1.355	0.00654	N	-1.06	0.76819	T	0.96	0.01488	N	0.233	0.26233	-0.9769	0.35705	T	0.158	0.49145	T	10	0.008160323	0.00185	T	0.01753	0.39265	T	0.103	0.29403	.	.	0.117191471859	0.11215	0.371492135375989	0.37063	0.0805848671954	0.09068	0.241395711899	0.02917	T	0.117238	0.43717	T	-0.477057	0.00770	T	-0.455424	0.27099	T	0.00718153730409955	0.00082	T	0.688631	0.29780	T	0.029948713	0.02575	0.04521096	0.06031	0.029948713	0.02574	0.04521096	0.06031	-1.806	0.02527	T	0.040849678322198636	0.00375	0.056	0.00444	B	.	.	1.442028	0.18620	13.83	0.18756881556305091	0.00604	0.11632	0.16761	N	AEFDBCI	0.013967	0.00205	N	-1.02227529827722	0.08142	0.380768	-0.851037764307212	0.13263	0.6870478	0.999553179985763	0.40362	0.722319	0.85440	0	0.577304	0.33150	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	5.6	3.16	0.35406	3.054000	0.49600	6.146000	0.54124	-0.120000	0.14102	0.939000	0.32602	1.000000	0.68203	0.192000	0.21661	0.8582:0.0:0.1418:0.0	9.760	0.39694	83	0.96533	Codanin-1, C-terminal 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	.	.	.	.	.	.	.	.	0.02632	1261.33	46	chr15	42729615	.	G	A	1261.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.36;DP=883;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=-1.991;SOR=0.669	GT:AD:DP:GQ:PL	0/1:48,52:100:99:1275,0,1164	18	0	1	0
chr15	45120748	45120748	C	A	exonic	DUOXA1	.	nonsynonymous SNV	DUOXA1:NM_001276265:exon3:c.G263T:p.R88L,DUOXA1:NM_001276268:exon4:c.G263T:p.R88L,DUOXA1:NM_001384349:exon6:c.G263T:p.R88L,DUOXA1:NM_001276264:exon7:c.G398T:p.R133L,DUOXA1:NM_001276266:exon7:c.G398T:p.R133L,DUOXA1:NM_001276267:exon7:c.G263T:p.R88L,DUOXA1:NM_144565:exon7:c.G398T:p.R133L	.	.	.	.	.	.	.	.	.	.	.	726106	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	.	0.0115815	0.0048	0.0002	0	0.0653	0	0	0.0022	0.0007	0.0043466	672	154602	rs75981505	0.0015	0.0015	0.0015	0.0015	0.0495	0.0014	0.0014	0.0477	0.0470	5.974e-05	6.708e-05	0	0.0495	0	0	9.892e-06	0.0023	0.0004	0.0023	0.0023	0.0020	0.0026	0.0626	0.0021	0.0020	0.0570	0.0548	7.225e-05	0	0.0003	0	0.0626	0	0	2.941e-05	0.0028	0.0015	0.139	0.53900	T	0.048	0.48594	D	0.467	0.36479	P	0.236	0.46509	B	0.096902	0.20053	N	0.576970	0.992723	0.23835	N	2.105	0.58435	M	0.48	0.55945	T	-2.78	0.62747	D	0.435	0.47857	-1.0340	0.19173	T	0.021	0.08917	T	10	0.004121959	0.00081	T	.	.	.	0.102	0.29158	.	.	0.604084794658	0.60091	0.5607529979610881	0.56002	0.408659946516	0.41705	0.222397744656	0.01453	T	0.130857	0.46000	T	-0.475319	0.00788	T	-0.407644	0.32497	T	0.0430974727027359	0.04254	T	0.678632	0.38228	T	0.22087756	0.44652	0.1415934	0.33713	0.22087756	0.44652	0.1415934	0.33712	-4.667	0.33002	T	.	.	0.119	0.33389	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.333809	0.07076	3.646	0.99363150862944472	0.61113	0.14535	0.18454	N	AEFBI	0.345092	0.44036	N	-0.652878982431639	0.17376	0.8936195	-0.693263035833332	0.17129	0.9093903	0.804475261321458	0.24244	0.497415	0.19182	0	0.563428	0.19063	0	0.59043	0.30614	0	0.613276	0.41899	0	.	.	5.44	-2.44	0.06126	-0.928000	0.04088	-5.845000	0.01577	-0.813000	0.03045	0.000000	0.06391	0.000000	0.08366	0.731000	0.35132	0.0:0.3832:0.1165:0.5003	7.399	0.26127	604	0.67577	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1848.33	34	chr15	45120748	.	C	A	1848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=828;ExcessHet=0;FS=0.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.516;SOR=0.608	GT:AD:DP:GQ:PL	0/1:109,75:184:99:1862,0,2722	18	0	1	0
chr15	48267616	48267616	C	T	exonic	SLC12A1	.	nonsynonymous SNV	SLC12A1:NM_000338:exon18:c.C2210T:p.A737V,SLC12A1:NM_001184832:exon18:c.C2210T:p.A737V,SLC12A1:NM_001384136:exon18:c.C2210T:p.A737V	Bartter syndrome, type 1, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	332203	not_provided|Bartter_disease_type_1	MedGen:C3661900|MONDO:MONDO:0100344,MedGen:C1866495,OMIM:601678,Orphanet:112,Orphanet:620217	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.329	.	.	0.0125799	0.0033	0	0.0002	0.0451	0	0	0.0022	0.0002	0.0031436	486	154602	rs78648980	0.0014	0.0014	0.0015	0.0014	0.0481	0.0014	0.0013	0.0463	0.0456	2.989e-05	6.711e-05	0	0.0481	0	0.0002	8.996e-06	0.0021	0.0001	0.0017	0.0017	0.0016	0.0018	0.0473	0.0015	0.0015	0.0425	0.0406	0	0	0.0005	0	0.0473	0	0	2.942e-05	0.0014	0.0004	0.199	0.27194	T	0.29	0.21011	T	0.066	0.23586	B	0.041	0.23986	B	0.019316	0.27286	N	0.435879	0.954063	0.37860	D	1.465	0.36909	L	-3.3	0.93787	D	-0.82	0.23156	N	0.422	0.46649	-0.4601	0.70064	T	0.119	0.41713	T	10	0.010328889	0.00230	T	.	.	.	0.329	0.65126	.	.	0.86695827829	0.86566	0.3586311046410507	0.35777	0.158820216048	0.17923	0.47324937582	0.35128	T	0.300227	0.67272	T	-0.27215	0.11518	T	-0.13012	0.60961	T	0.0212881446915657	0.00831	T	0.39666	0.13215	T	0.05135409	0.09417	0.09125734	0.21444	0.05489742	0.10595	0.10407057	0.24985	-6.5	0.50286	T	0.16401774671806782	0.20244	0.114	0.22500	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.167870	0.27620	17.53	0.99553109214625657	0.71273	0.81329	0.40755	D	AEFBI	0.275339	0.39032	N	-0.29027718414703	0.29523	1.637944	-0.124656365644731	0.34398	1.978255	0.980456274859522	0.30138	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	6.02	4.11	0.47350	2.058000	0.41001	1.767000	0.28601	-1.838000	0.00583	1.000000	0.71638	0.963000	0.29397	0.773000	0.36634	0.252:0.748:0.0:0.0	15.557	0.75943	671	0.60868	.;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, C-terminal;SLC12A transporter, 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	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1061.33	35	chr15	48267616	.	C	T	1061.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.641;DP=709;ExcessHet=0;FS=1.781;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=0.048;SOR=0.481	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1075,0,986	18	0	1	0
chr15	48788836	48788836	T	C	exonic	CEP152	.	nonsynonymous SNV	CEP152:NM_001194998:exon9:c.A1138G:p.N380D,CEP152:NM_014985:exon9:c.A1138G:p.N380D	Microcephaly 9, primary, autosomal recessive, Autosomal recessive;Seckel syndrome 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3703946	Seckel_syndrome_5|Microcephaly_9,_primary,_autosomal_recessive	MONDO:MONDO:0013443,MedGen:C3151187,OMIM:613823,Orphanet:808|MONDO:MONDO:0013923,MedGen:C3553886,OMIM:614852,Orphanet:2512	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.300	0.043183842184	.	0.000199681	9.936e-05	0	0	0	0	0	0	0.0007	8.41e-05	13	154602	rs549725302	4.583e-05	4.583e-05	1.906e-05	7.288e-05	0.0008	3.661e-05	3.347e-05	0.0006	0.0006	0	0	0	0	0	0	0	1.656e-05	0.0008	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	0	0	0.0006	0.028	0.46910	D	0.062	0.45318	T	0.634	0.41275	P	0.234	0.40966	B	0.003473	0.34901	N	0.328571	0.894687	0.27817	N	1.995	0.54099	M	-1.15	0.77964	T	-1.11	0.33401	N	0.236	0.30347	-0.4532	0.70294	T	0.324	0.69289	T	10	0.056404263	0.06318	T	0.043184	0.60853	D	0.300	0.62068	0.151	0.05441	0.902745592643	0.90177	0.10994143922678616	0.10923	0.200154023951	0.22416	0.345521271229	0.17260	T	0.011598	0.10324	T	-0.382909	0.02987	T	-0.411954	0.32001	T	0.184765090599775	0.19530	T	0.834817	0.50404	T	0.2032494	0.42396	0.1390889	0.33198	0.2032494	0.42396	0.1390889	0.33197	-3.656	0.23278	T	0.5833956168193198	0.65021	0.150	0.33063	B	.;.;.	.;.;.	3.089784	0.41597	21.4	0.99683105853296183	0.79373	0.92710	0.56357	D	AEFBI	0.368446	0.45554	N	0.212738779810959	0.51816	3.360015	0.298023006453394	0.55424	3.705437	0.999972829636061	0.50053	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.635551	0.53088	0	.	.	5.58	4.46	0.53567	3.988000	0.56662	2.362000	0.32378	0.665000	0.62972	1.000000	0.71638	0.516000	0.25283	0.992000	0.67800	0.0:0.0728:0.0:0.9272	10.929	0.46419	251	0.90153	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2803.33	40	chr15	48788836	.	T	C	2803.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.659;DP=855;ExcessHet=0;FS=6.742;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.525;SOR=0.402	GT:AD:DP:GQ:PL	0/1:101,113:214:99:2817,0,2455	18	0	1	0
chr15	50958794	50958794	-	GTAA	exonic	AP4E1	.	frameshift insertion	AP4E1:NM_001252127:exon14:c.1626_1627insGTAA:p.D544Sfs*14,AP4E1:NM_007347:exon14:c.1851_1852insGTAA:p.D619Sfs*14	Spastic paraplegia 51, autosomal recessive, Autosomal recessive;Stuttering, familial persistent, 1, Autosomal dominant	3	1514	5	0	0	5	0.00164853	.	.	.	797164	Spastic_paraplegia|not_specified|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	4.51e-05	0	0.0006	8.41e-05	13	154602	rs778162120	6.978e-05	6.977e-05	4.22e-05	9.764e-05	0.0007	5.847e-05	5.457e-05	0.0006	0.0005	0	0	3.827e-05	0	0	0.0005	2.698e-05	0.0001	0.0007	5.91e-05	5.906e-05	6.426e-05	5.372e-05	0.0008	3.076e-05	2.209e-05	0.0003	0.0002	0	0	0	0	0	0	0	7.35e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	990.29	35	chr15	50958794	.	G	GGTAA	990.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.921;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.01;ReadPosRankSum=-2.209;SOR=0.569	GT:AD:DP:GQ:PL	0/1:29,26:55:99:1004,0,1140	18	0	1	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:89,48:150:99:130,0,1843	3	0	13	3
chr15	51495053	51495053	G	A	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001174117:exon17:c.C2846T:p.P949L,DMXL2:NM_001378464:exon18:c.C4514T:p.P1505L,DMXL2:NM_001174116:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378457:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378458:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378459:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378461:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378462:exon19:c.C4754T:p.P1585L,DMXL2:NM_001378463:exon19:c.C4754T:p.P1585L,DMXL2:NM_015263:exon19:c.C4754T:p.P1585L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.0177646185802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.679	0.06128	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.555	0.39373	L	2.05	0.23082	T	-2.27	0.50666	N	0.634	0.69825	-1.1002	0.04067	T	0.120	0.41865	T	10	0.693118	0.71977	D	0.017765	0.39598	T	0.344	0.66582	0.694	0.83126	0.420780279148	0.41693	0.5267988048835283	0.52603	0.796178614948	0.66048	0.815879106522	0.84395	D	0.05579	0.30106	T	0.0790574	0.61929	D	-0.124216	0.61455	T	0.989907145500183	0.80122	D	0.962404	0.85901	D	0.24296603	0.47229	0.30609906	0.56636	0.24296603	0.47229	0.30609906	0.56635	-9.999	0.73972	D	.	.	0.410	0.63181	A	.;.;.	.;.;.	4.265717	0.64858	24.8	0.99022150680650622	0.50613	0.87248	0.46730	D	AEFDBHCIJ	0.919311	0.88965	D	0.665133069164271	0.77350	6.658174	0.699783348314829	0.82363	7.748255	1.0	0.98316	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.548927	0.17530	0	.	.	5.75	5.75	0.90390	9.568000	0.97316	11.886000	0.98962	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:1.0:0.0	19.538	0.95253	523	0.74147	RAVE complex protein Rav1 C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1066.33	34	chr15	51495053	.	G	A	1066.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.487;DP=702;ExcessHet=0;FS=3.114;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=-0.421;SOR=0.399	GT:AD:DP:GQ:PL	0/1:32,44:76:99:1080,0,742	18	0	1	0
chr15	54014844	54014844	G	T	exonic	UNC13C	.	nonsynonymous SNV	UNC13C:NM_001080534:exon2:c.G1941T:p.Q647H,UNC13C:NM_001329919:exon2:c.G1941T:p.Q647H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0446906039798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.097	0.39190	T	0.996	0.68779	D	0.986	0.76916	D	.	.	.	.	0.984925	0.40212	D	2.175	0.60977	M	-1.52	0.81478	D	-0.73	0.20576	N	0.884	0.88246	-0.0270	0.81694	T	0.489	0.80570	T	9	0.47704458	0.60206	T	0.044691	0.61616	D	0.422	0.73078	0.234	0.16305	0.838262649207	0.83672	0.6895520786508947	0.68895	0.286173745657	0.31023	0.6071819067	0.53918	T	0.120654	0.44305	T	0.173951	0.71486	D	0.0120922	0.71118	D	0.918749451637268	0.57714	D	0.826617	0.49005	T	0.22555777	0.45219	0.30257183	0.56289	0.22555777	0.45219	0.30257183	0.56288	-4.57	0.31792	T	.	.	0.112	0.27762	B	.;.	.;.	2.915711	0.38689	20.8	0.99690596860357961	0.79909	0.95956	0.66886	D	AEFIJ	0.691670	0.65159	D	0.545353848131821	0.69798	5.408687	0.574733090601507	0.73133	5.92098	0.797222484895647	0.24121	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	5.26	0.73479	2.995000	0.49129	2.966000	0.35777	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0813:0.0:0.9187:0.0	11.46	0.49449	843	0.36859	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1959.33	37	chr15	54014844	.	G	T	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.398;DP=913;ExcessHet=0;FS=0.667;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.55;ReadPosRankSum=0.925;SOR=0.747	GT:AD:DP:GQ:PL	0/1:55,71:126:99:1973,0,1420	18	0	1	0
chr15	61945803	61945803	G	A	exonic	VPS13C	.	nonsynonymous SNV	VPS13C:NM_017684:exon43:c.C4931T:p.A1644V,VPS13C:NM_018080:exon43:c.C4931T:p.A1644V,VPS13C:NM_001018088:exon45:c.C5060T:p.A1687V,VPS13C:NM_020821:exon45:c.C5060T:p.A1687V	Parkinson disease 23, autosomal recessive, early onset, Autosomal recessive	432	1055	33	2	0	37	0.0172333	.	.	.	714522	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.035	.	0.0018	0.00399361	0.0037	0.0008	0.0010	0.0002	0.0012	0.0033	0.0044	0.0116	0.0032988	510	154602	rs114089496	0.0032	0.0032	0.0030	0.0035	0.0113	0.0032	0.0031	0.0107	0.0105	0.0005	0.0013	0.0005	5.047e-05	0.0010	0.0092	0.0030	0.0031	0.0113	0.0020	0.0020	0.0019	0.0021	0.0108	0.0018	0.0017	0.0084	0.0076	0.0005	0	0.0015	0.0006	0.0002	0.0011	0.0102	0.0027	0.0038	0.0108	0.294	0.49117	T	.	.	.	0.038	0.23455	B	0.066	0.30313	B	0.064746	0.21930	N	0.499217	0.976149	0.25392	N	2.215	0.62545	M	0.94	0.43672	T	-0.98	0.26639	N	0.096	0.24260	-0.9987	0.30283	T	0.108	0.39075	T	10	0.006000012	0.00135	T	.	.	.	0.035	0.08770	.	.	0.476908202251	0.47319	0.324965648843083	0.32409	0.0267110625273	0.02732	0.328295946121	0.14677	T	0.021808	0.16921	T	-0.563124	0.00243	T	-0.57227	0.15243	T	0.00707998729020647	0.00081	T	0.90161	0.65783	D	0.030280372	0.02663	0.053890113	0.09165	0.031328395	0.02953	0.048879843	0.07353	-4.258	0.29880	T	0.26190785582347703	0.35351	0.086	0.10883	B	.;.;.;.;.;.	.;.;.;.;.;.	1.867846	0.23728	16.13	0.9957987310565598	0.72921	0.48904	0.28312	N	AEFBI	0.137811	0.25891	N	-0.28019721746193	0.29914	1.663151	-0.1814191148143	0.32219	1.830927	0.0667973363825362	0.15405	0.706548	0.73137	0	0.724815	0.89359	0	0.618467	0.43123	0	0.714379	0.83352	0	.	.	5.44	4.5	0.54382	2.169000	0.42061	3.638000	0.39337	0.618000	0.50648	0.312000	0.25432	0.610000	0.25763	0.996000	0.76049	0.076:0.2944:0.6296:0.0	8.991	0.35187	892	0.26670	.;.;.;.;.;.	.	.	.	.	.	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	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.009146	0.011364	0.02632	1603.33	34	chr15	61945803	.	G	A	1603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.497;DP=750;ExcessHet=0;FS=1.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.491;SOR=0.875	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1617,0,1491	18	0	1	0
chr15	68332355	68332355	C	T	exonic	ITGA11	.	nonsynonymous SNV	ITGA11:NM_001004439:exon13:c.G1549A:p.V517I	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.025039604647	0.0016	0.00139776	0.0007	0.0041	0.0013	0	0	0.0003	0.0053	0.0002	0.0004722	73	154602	rs61729765	0.0003	0.0003	0.0003	0.0003	0.0047	0.0003	0.0003	0.0041	0.0038	0.0047	0.0007	0.0030	2.534e-05	0	0.0014	8.383e-05	0.0006	0.0004	0.0011	0.0011	0.0011	0.0011	0.0032	0.0010	0.0009	0.0028	0.0026	0.0032	0	0.0007	0.0032	0	0	0.0034	0.0001	0.0014	0.0004	0.199	0.20456	T	0.345	0.18732	T	0.006	0.13644	B	0.004	0.10090	B	0.000420	0.44736	N	0.228605	0.770981	0.34151	D	1.095	0.27400	L	-0.78	0.73631	T	-0.31	0.12099	N	0.259	0.29313	-0.7778	0.56426	T	0.172	0.51357	T	10	0.011674434	0.00254	T	0.02504	0.48022	D	0.076	0.22200	.	.	0.693959955507	0.69132	0.2665124962635741	0.26564	0.0875372861277	0.09878	0.280250459909	0.07527	T	0.186184	0.53940	T	-0.479845	0.00741	T	-0.461637	0.26420	T	0.00566322625050065	0.00062	T	0.827217	0.49094	T	0.041856855	0.06241	0.058313675	0.10755	0.041856855	0.06241	0.058313675	0.10755	-3.791	0.20999	T	.	.	0.070	0.05145	B	.;.	.;.	1.170625	0.15603	11.97	0.98615297373233535	0.43704	0.66980	0.33268	D	AEFGBI	0.252688	0.37232	N	-0.460251165219545	0.23393	1.255969	-0.339027289237741	0.26850	1.485828	0.999983858811303	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.01	3.1	0.34780	0.608000	0.23921	-0.120000	0.11732	0.599000	0.40250	0.953000	0.33222	0.000000	0.08366	0.418000	0.27184	0.0:0.8339:0.0:0.1661	10.218	0.42359	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005435	0.008772	0.000000	0.008621	0.003049	0.003788	0.02632	1279.33	48	chr15	68332355	.	C	T	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.3;DP=885;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=-0.917;SOR=0.674	GT:AD:DP:GQ:PL	0/1:83,54:137:99:1293,0,2089	18	0	1	0
chr15	74176014	74176014	G	A	exonic	ISLR	.	nonsynonymous SNV	ISLR:NM_005545:exon2:c.G1156A:p.V386I,ISLR:NM_201526:exon2:c.G1156A:p.V386I	.	394	1121	7	0	0	7	0.00311249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.0142659276586	0.0026	0.000998403	0.0018	0.0004	0.0011	0	0	0.0022	0.0057	0.0030	0.0017141	265	154602	rs140714071	0.0023	0.0023	0.0022	0.0023	0.0036	0.0022	0.0022	0.0024	0.0021	0.0004	0.0011	0.0111	0	0	0.0036	0.0022	0.0038	0.0024	0.0016	0.0016	0.0017	0.0015	0.0022	0.0015	0.0014	0.0020	0.0018	0.0005	0	0.0008	0.0130	0	0	0.0102	0.0022	0.0033	0.0021	0.017	0.51248	D	0.212	0.26549	T	0.982	0.60036	D	0.628	0.51677	P	0.001402	0.39109	U	0.000000	0.975628	0.25423	N	1.04	0.26193	L	-0.13	0.64818	T	-0.53	0.16393	N	0.098	0.08366	-0.9223	0.45238	T	0.171	0.51293	T	10	0.006759137	0.00153	T	0.014266	0.34274	T	0.130	0.35528	.	.	0.0666544352282	0.05500	0.24689302740300903	0.24603	0.944440780139	0.72360	0.607033014297	0.53897	T	0.073616	0.34742	T	-0.438384	0.01322	T	-0.408032	0.32452	T	0.0392663077118959	0.03557	T	0.615039	0.23503	T	0.075713314	0.17075	0.10304492	0.24713	0.075713314	0.17074	0.10304492	0.24712	-3.699	0.19304	T	.	.	0.150	0.33823	B	.;.	.;.	4.050696	0.60035	24.2	0.9973002738558393	0.82690	0.80369	0.40025	D	AEFDGBCI	0.324566	0.42642	N	0.0654408850707338	0.44856	2.752121	0.116972982548871	0.45417	2.805202	0.999999990796075	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	4.48	4.48	0.53973	2.556000	0.45524	7.530000	0.59902	0.618000	0.50648	0.996000	0.39380	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	15.344	0.74036	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	0.005040	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.011364	0.02632	1464.33	99	chr15	74176014	.	G	A	1464.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.325;DP=907;ExcessHet=0;FS=7.102;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=0.221;SOR=1.294	GT:AD:DP:GQ:PL	0/1:59,57:116:99:1478,0,1590	18	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P,HMG20A:NM_001304505:exon5:c.G127C:p.A43P,HMG20A:NM_018200:exon6:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	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	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box 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	.	.	.	.	.	.	.	.	0.2632	208.08	25	chr15	77470925	.	G	C	208.08	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-2.769;DP=1005;ExcessHet=6.9875;FS=372.888;InbreedingCoeff=-0.3311;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=0.707;SOR=10.607	GT:AD:DP:GQ:PL	0/1:48,16:64:16:16,0,1170	9	0	10	0
chr15	81290495	81290495	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_001172128:exon11:c.G1375A:p.E459K,IL16:NM_001352686:exon11:c.G1528A:p.E510K,IL16:NM_172217:exon11:c.G1375A:p.E459K,IL16:NM_001352685:exon12:c.G865A:p.E289K	.	420	1075	27	0	0	27	0.0124024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	.	.	0.0135783	0.0105	0.0002	0.0011	0.0002	0	3.015e-05	0.0045	0.0765	0.0088615	1370	154602	rs200730945	0.0046	0.0046	0.0024	0.0068	0.0733	0.0045	0.0044	0.0717	0.0711	0.0001	8.956e-05	0	7.566e-05	0	0.0028	3.328e-05	0.0048	0.0733	0.0024	0.0024	0.0010	0.0037	0.0732	0.0022	0.0021	0.0669	0.0644	4.813e-05	0	6.533e-05	0	0.0002	0	0	1.47e-05	0.0009	0.0732	0.002	0.78490	D	0.011	0.64786	D	0.997	0.70673	D	0.961	0.70482	D	0.000409	0.44736	D	0.000000	0.999976	0.53665	D	2.34	0.67151	M	2.19	0.18724	T	-1.18	0.30140	N	0.361	0.43126	-1.0946	0.04810	T	0.098	0.36651	T	10	0.0032061934	0.00054	T	.	.	.	0.251	0.56024	0.443	0.49975	.	.	0.5396994548846176	0.53894	0.500221979732	0.48442	0.627624154091	0.56808	T	0.169673	0.58592	T	-0.229002	0.16782	T	-0.0466498	0.67252	D	0.0447532322338824	0.04557	T	0.929307	0.74183	D	0.28043443	0.51090	0.305622	0.56588	0.28043443	0.51090	0.305622	0.56587	-10.927	0.79460	D	.	.	0.233	0.49490	B	.;.;.	.;.;.	3.857957	0.55934	23.7	0.99926237934331785	0.99103	0.94383	0.60991	D	AEFBCI	0.920021	0.89138	D	0.627506272716689	0.74919	6.215501	0.548809964980565	0.71315	5.63603	0.999999999997521	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.89	4.89	0.63387	8.102000	0.89386	9.316000	0.80002	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	0.0:0.0:1.0:0.0	18.277	0.90025	806	0.43582	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.041667	0.1053	2378.43	34	chr15	81290495	.	G	A	2378.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.775;DP=738;ExcessHet=0.7564;FS=0.524;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=0.799;SOR=0.632	GT:AD:DP:GQ:PL	0/1:31,46:77:99:1135,0,750	15	0	4	0
chr15	82344942	82344942	T	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1896.3	11	chr15	82344942	.	T	*	1896.3	.	AC=7;AF=0.35;AN=20;BaseQRankSum=2.09;DP=1700;ExcessHet=5.6323;FS=13.88;InbreedingCoeff=-0.3369;MLEAC=9;MLEAF=0.45;MQ=46.72;MQRankSum=0;QD=2;ReadPosRankSum=1.28;SOR=1.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,17:138:99:0|1:82344920_ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACG_A:173,0,4584:82344920	4	1	5	9
chr15	82345004	82345025	ATAGCCTCTCCTCCTGTTCACG	0	exonic	GOLGA6L10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2917	2625.15	3	chr15	82345004	.	ATAGCCTCTCCTCCTGTTCACG	*	2625.15	.	AC=7;AF=0.292;AN=24;BaseQRankSum=1.52;DP=1417;ExcessHet=3.7519;FS=10.225;InbreedingCoeff=-0.2602;MLEAC=9;MLEAF=0.375;MQ=46.78;MQRankSum=-7.03;QD=3.01;ReadPosRankSum=0.846;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:48,17:65:99:.:.:433,0,1429:.	6	1	5	7
chr15	82345026	82345110	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	637	825	3	0	57	60	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1978.48	111	chr15	82345026	.	TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	1978.48	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.49;DP=2232;ExcessHet=5.6906;FS=1.17;InbreedingCoeff=-0.3098;MLEAC=6;MLEAF=0.158;MQ=41.92;MQRankSum=-2.412;QD=1.77;ReadPosRankSum=0.108;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,22:101:99:.:.:356,0,3756:.	13	0	6	0
chr15	82345047	82345110	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	0	exonic	GOLGA6L10	.	.	.	.	651	863	6	0	2	8	0.0034642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	106.96	111	chr15	82345047	.	TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	*	106.96	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.357;DP=2483;ExcessHet=13.8672;FS=1.209;InbreedingCoeff=-0.5724;MLEAC=13;MLEAF=0.361;MQ=38.64;MQRankSum=-2.151;QD=0.1;ReadPosRankSum=2.39;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,22:101:99:.:.:356,0,3756:.	6	0	12	1
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G,DET1:NM_001321596:exon3:c.A866G:p.D289G,DET1:NM_017996:exon3:c.A899G:p.D300G,DET1:NM_001321594:exon4:c.A764G:p.D255G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	635.01	117	chr15	88530840	.	T	C	635.01	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.068;DP=1914;ExcessHet=2.9153;FS=131.31;InbreedingCoeff=-0.2406;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=0.803;SOR=11.121	GT:AD:DP:GQ:PL	0/1:88,17:105:8:8,0,2203	11	0	7	1
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,27:27:85:.:.:1206,85,0:.	8	2	9	0
chr15	89799550	89799550	T	C	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon12:c.A1829G:p.D610G,ANPEP:NM_001150:exon13:c.A1829G:p.D610G,ANPEP:NM_001381923:exon13:c.A1829G:p.D610G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0150859197313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.14449	T	0.301	0.20293	T	0.01	0.15535	B	0.021	0.19346	B	0.006281	0.01118	N	3.219780	1	0.08975	N	2.725	0.79712	M	1.36	0.34452	T	-1.47	0.35991	N	0.072	0.04547	-1.0286	0.20908	T	0.081	0.32060	T	10	0.091451645	0.16022	T	0.015086	0.35618	T	0.034	0.08419	0.37	0.38013	0.16115917748	0.15686	0.5950019049471973	0.59430	0.328683231813	0.34977	0.229684084654	0.01945	T	0.440936	0.78566	T	-0.284799	0.10166	T	-0.64687	0.09175	T	0.15104848358265	0.17187	T	0.141086	0.01136	T	0.2916211	0.52143	0.1961976	0.43337	0.2916211	0.52143	0.1961976	0.43336	-4.246	0.27412	T	.	.	0.089	0.12371	B	.	.	-1.582606	0.00249	0.004	0.85400696167369605	0.15870	0.09724	0.15415	N	AEFDGBCI	0.263897	0.38135	N	-1.4873356306073	0.01939	0.08511473	-1.61632648822106	0.01559	0.07066436	0.999999953715474	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.71	-6.89	0.01501	-2.217000	0.01304	-6.198000	0.01467	-2.344000	0.00310	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.4403:0.5597	13.978	0.63797	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	.	.	.	.	.	.	.	.	0.02632	1010.33	36	chr15	89799550	.	T	C	1010.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10;ReadPosRankSum=-1.458;SOR=0.626	GT:AD:DP:GQ:PL	0/1:58,43:101:99:1024,0,1393	18	0	1	0
chr15	90887322	90887322	G	A	exonic	FES	.	nonsynonymous SNV	FES:NM_001143783:exon3:c.G446A:p.G149D,FES:NM_001143784:exon4:c.G620A:p.G207D,FES:NM_001143785:exon4:c.G446A:p.G149D,FES:NM_002005:exon5:c.G620A:p.G207D	.	10	1505	7	0	0	7	0.00232019	.	.	.	2672650	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.108	0.00557195508323	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0003	0.00011	17	154602	rs377603197	0.0001	0.0001	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0	6.711e-05	0.0008	0	0	0.0017	0.0001	0.0001	0.0004	8.532e-05	8.529e-05	7.707e-05	9.393e-05	0.0010	4.951e-05	3.958e-05	0.0004	0.0003	0	0	0	0.0012	0	0	0	5.88e-05	0	0.0010	0.195	0.35537	T	0.574	0.30631	T	0.079	0.62325	B	0.093	0.60272	B	0.242729	0.15677	N	0.636697	0.927117	0.36855	D	1.32	0.33002	L	2.7	0.12162	T	-1.86	0.50502	N	0.463	0.50508	-1.1169	0.02538	T	0.059	0.24686	T	10	0.05410236	0.05708	T	0.005572	0.14379	T	0.108	0.30607	.	.	0.715097462828	0.71260	0.39928732968707553	0.39843	0.425264088021	0.42939	0.406227648258	0.25934	T	0.365703	0.73108	T	-0.298432	0.08808	T	-0.374305	0.36385	T	0.0408774667944681	0.03849	T	0.926607	0.73561	D	0.23619127	0.46465	0.23424904	0.48637	0.23619127	0.46465	0.23424904	0.48636	-7.772	0.72736	D	.	.	0.145	0.39047	B	.;.;.;.;.	.;.;.;.;.	2.461489	0.31708	18.82	0.99537419757666457	0.70274	0.40149	0.26372	N	AEFBCI	0.295716	0.40576	N	-0.279318245396713	0.29948	1.665364	-0.341007846141006	0.26789	1.481966	0.999987417205556	0.51787	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.98	3.98	0.45383	0.724000	0.25624	7.378000	0.58437	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.139000	0.19909	0.0:0.1676:0.8323:0.0	12.454	0.55033	688	0.59122	F-BAR domain;.;F-BAR domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.002725	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1472.33	54	chr15	90887322	.	G	A	1472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.483;DP=936;ExcessHet=0;FS=0.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-0.664;SOR=0.602	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1486,0,1448	18	0	1	0
chr15	92630239	92630239	A	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.T451C:p.S151P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0370127425349	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.232e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.999	0.77913	D	0.984	0.76113	D	0.000002	0.62929	D	0.000000	0.971522	0.81001	D	2.25	0.63811	M	0.84	0.47477	T	-3.52	0.68412	D	0.836	0.83167	-0.6952	0.60666	T	0.243	0.61142	T	10	0.6516975	0.69640	D	0.037013	0.57355	D	0.189	0.46613	0.326	0.30873	0.203808441222	0.19973	0.4683697378432957	0.46755	1.28596125054	0.82662	0.607195258141	0.53919	T	0.103651	0.41249	T	-0.0193351	0.48948	T	-0.26555	0.48267	T	0.985782146453857	0.76677	D	0.772023	0.40277	T	0.5808712	0.71656	0.694429	0.82011	0.5808712	0.71657	0.694429	0.82012	-11.545	0.82564	D	.	.	0.913	0.83689	P	.	.	3.664272	0.52068	23.2	0.99805816475953246	0.88995	0.70514	0.34622	D	AEFGBHCI	0.303491	0.41145	N	0.415262786789674	0.62260	4.439111	0.350009233512953	0.58506	4.021693	0.9999999986463	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	2.88	0.32617	3.565000	0.53543	0.612000	0.20040	0.691000	0.84096	1.000000	0.71638	0.004000	0.18990	0.976000	0.56436	0.5445:0.4555:0.0:0.0	11.273	0.48384	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	415.99	37	chr15	92630239	.	A	G	415.99	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-3.793;DP=1519;ExcessHet=0.7564;FS=157.988;InbreedingCoeff=-0.2064;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.01;ReadPosRankSum=0.776;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,27:122:99:0|1:92630239_A_G:152,0,3415:92630239	10	0	4	5
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	2106.89	75	chr15	92630242	.	C	G	2106.89	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.614;DP=1407;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3775;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.07;ReadPosRankSum=-0.159;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,52:126:99:0|1:92630239_A_G:1843,0,2940:92630239	3	0	5	11
chr15	92630243	92630243	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G447C:p.E149D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00647740870007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.931e-06	0.0002	2.735e-06	1.518e-05	1.085e-05	4.98e-06	3.84e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.085e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.202	0.27414	T	0.905	0.49920	P	0.642	0.52168	P	0.000043	0.53742	D	0.070627	0.877532	0.28105	N	1.29	0.32370	L	1.32	0.35219	T	-1.78	0.42001	N	0.393	0.43417	-0.9486	0.41211	T	0.094	0.35631	T	10	0.22394639	0.39186	T	0.006477	0.17072	T	0.082	0.23913	0.268	0.21576	0.0138822411134	0.00435	0.271622458937736	0.27075	1.10128899491	0.77738	0.574964404106	0.49377	T	0.036879	0.24268	T	-0.214669	0.18726	T	-0.546133	0.17699	T	0.845151245594025	0.49752	D	0.824917	0.48720	T	0.10445555	0.24694	0.09527147	0.22589	0.10445555	0.24694	0.09527147	0.22588	-7.313	0.56288	T	.	.	0.225	0.45665	B	.	.	2.210674	0.28203	17.72	0.74021373359626774	0.10541	0.42009	0.26783	N	AEFGBHCI	0.099426	0.20014	N	-0.41939284014467	0.24789	1.341029	-0.432723637638818	0.24043	1.31443	0.999999998690202	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	-3.77	0.04062	0.178000	0.16634	-0.583000	0.08366	-0.257000	0.07002	0.993000	0.37899	0.025000	0.21018	0.980000	0.58198	0.0:0.31:0.0:0.69	12.886	0.57433	957	0.09725	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3125	2099.97	75	chr15	92630243	.	C	G	2099.97	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.828;DP=1406;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3798;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=-0.142;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,52:127:99:0|1:92630239_A_G:1840,0,2982:92630239	3	0	5	11
chr15	92630245	92630245	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G445C:p.E149Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0228964332442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.017	0.60337	D	1.0	0.90584	D	0.99	0.78936	D	0.000043	0.53742	D	0.070627	0.664441	0.44502	D	2.095	0.58118	M	0.75	0.50192	T	-2.73	0.58085	D	0.569	0.59223	-0.2273	0.76958	T	0.332	0.69960	T	10	0.60730934	0.67247	D	0.022896	0.45827	T	0.215	0.50805	0.404	0.43573	0.0401082797425	0.02173	0.4675481303851458	0.46673	1.15860135375	0.79410	0.565466284752	0.48038	T	0.190896	0.54557	T	-0.046153	0.45029	T	-0.304072	0.44293	T	0.961356455792854	0.66059	D	0.911409	0.68582	D	0.33561563	0.55928	0.20909509	0.45240	0.33561563	0.55928	0.20909509	0.45239	-8.763	0.66158	D	.	.	0.729	0.74160	P	.	.	4.587400	0.72525	25.8	0.98463620350359216	0.41768	0.88917	0.49082	D	AEFGBHCI	0.859421	0.77710	D	0.492419084689025	0.66645	4.977127	0.550374849278894	0.71422	5.652677	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	5.752000	0.49633	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1364	1763.55	134	chr15	92630245	.	C	G	1763.55	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-3.598;DP=1693;ExcessHet=0.3672;FS=355.6;InbreedingCoeff=-0.23;MLEAC=4;MLEAF=0.182;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=1.61;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,22:117:99:.:.:1619,0,3025:.	8	0	3	8
chr15	92630248	92630248	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G442C:p.D148H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.061949749731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.981	0.75168	D	0.000043	0.53742	D	0.070627	0.900708	0.50402	D	2.31	0.66127	M	0.33	0.58323	T	-5.55	0.86222	D	0.575	0.59732	-0.2875	0.75334	T	0.366	0.72628	T	10	0.7053839	0.72704	D	0.06195	0.68497	D	0.414	0.72479	0.564	0.68499	0.270889551736	0.26708	0.5128981161307481	0.51211	1.26599244295	0.82158	0.566754460335	0.48220	T	0.120299	0.44244	T	0.0290487	0.55597	T	-0.19605	0.55021	T	0.996697545051575	0.89883	D	0.909109	0.67839	D	0.73887527	0.80228	0.72065765	0.83506	0.73887527	0.80230	0.72065765	0.83507	-15.3	0.96517	D	.	.	0.796	0.77121	P	.	.	5.036038	0.83793	28.1	0.9865365078314744	0.44233	0.88917	0.49082	D	AEFGBHCI	0.873922	0.79653	D	0.477504834894099	0.65780	4.865564	0.540136420362585	0.70713	5.545969	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1884.22	103	chr15	92630248	.	C	G	1884.22	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.249;DP=1430;ExcessHet=0.3672;FS=362.549;InbreedingCoeff=-0.3571;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=0.973;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:81,34:122:99:.:.:1723,0,3238:.	2	0	3	14
chr15	92630251	92630251	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G439A:p.E147K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0657453982676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.014	0.62352	D	0.939	0.52645	P	0.579	0.50152	P	0.000897	0.41231	D	0.159409	0.663107	0.52396	D	2.215	0.62545	M	0.5	0.55608	T	-3.36	0.66549	D	0.567	0.59053	-0.2870	0.75348	T	0.317	0.68629	T	10	0.6110569	0.67446	D	0.065745	0.69670	D	0.249	0.55752	0.538	0.64874	0.0806252709748	0.07271	0.5044295358613299	0.50364	1.13977541105	0.78881	0.576099395752	0.49536	T	0.072488	0.34467	T	0.00226496	0.51966	T	-0.234523	0.51332	T	0.989400923252106	0.79642	D	0.931007	0.74365	D	0.3660051	0.58288	0.32321736	0.58255	0.3660051	0.58289	0.32321736	0.58254	-12.163	0.85636	D	.	.	0.540	0.66364	A	.	.	5.085761	0.84900	28.4	0.98668534088134341	0.44442	0.86267	0.45514	D	AEFGBHCI	0.824876	0.74468	D	0.469250708575804	0.65304	4.805603	0.532037325251832	0.70157	5.464143	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	1828.93	136	chr15	92630251	.	C	T	1828.93	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-4.239;DP=1508;ExcessHet=0;FS=285.191;InbreedingCoeff=-0.1174;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=13.55;ReadPosRankSum=3.24;SOR=7.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,52:135:99:0|1:92630239_A_G:1840,0,3311:92630239	13	0	1	5
chr15	92630254	92630254	C	T	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G436A:p.D146N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0239686996981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.026	0.55759	D	0.997	0.70673	D	0.918	0.65394	D	0.000036	0.55875	D	0.068504	0.997075	0.43612	D	2.31	0.66127	M	-0.25	0.67011	T	-3.85	0.72353	D	0.644	0.65587	-0.8108	0.54502	T	0.217	0.57902	T	10	0.70807624	0.72866	D	0.023969	0.46950	T	0.333	0.65522	0.492	0.57890	0.126345400529	0.12197	0.6364352983231589	0.63577	1.12360715339	0.78375	0.610536158085	0.54391	T	0.171364	0.51947	T	-0.00291733	0.51252	T	-0.241967	0.50606	T	0.994988739490509	0.86633	D	0.926807	0.73035	D	0.28633583	0.51650	0.23901767	0.49240	0.28633583	0.51650	0.23901767	0.49239	-7.127	0.54955	T	.	.	0.244	0.47859	B	.	.	4.708179	0.75603	26.4	0.98500546622593532	0.42216	0.79868	0.39664	D	AEFGBHCI	0.699485	0.65681	D	0.424550699294709	0.62776	4.499147	0.479078087077324	0.66606	4.973943	0.99999999999994	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	5.330000	0.65675	5.751000	0.49627	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.1627:0.8373:0.0:0.0	12.920	0.57621	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03333	1858.07	36	chr15	92630254	.	C	T	1858.07	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-4.927;DP=1441;ExcessHet=0;FS=292.902;InbreedingCoeff=-0.0876;MLEAC=1;MLEAF=0.033;MQ=60;MQRankSum=0;QD=13.46;ReadPosRankSum=3.28;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,53:138:99:0|1:92630239_A_G:1870,0,3346:92630239	14	0	1	4
chr15	99129586	99129586	C	T	exonic	SYNM	.	nonsynonymous SNV	SYNM:NM_015286:exon4:c.C1226T:p.T409I,SYNM:NM_145728:exon4:c.C1226T:p.T409I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0228109670467	.	.	8.284e-06	0	0	0	0.0002	0	0	0	6.5e-06	1	154602	rs782115557	1.368e-06	1.368e-06	0	2.751e-06	8.994e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.873e-05	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.391	0.15456	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.38	0.81727	T	-1.35	0.33598	N	0.05	0.02759	-0.8328	0.53120	T	0.308	0.67831	T	8	0.04331547	0.03168	T	0.022811	0.45731	T	0.223	0.52023	0.135	0.03920	0.252162846088	0.24830	0.31497397839098845	0.31410	0.176539232484	0.19871	0.288469612598	0.08701	T	0.012352	0.10875	T	-0.0643592	0.42224	T	-0.330224	0.41443	T	0.0445382395389142	0.04519	T	0.562144	0.19728	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.19919	B	.;.;.	.;.;.	0.520668	0.08895	5.674	0.83365573690035977	0.14686	0.04687	0.10371	N	AEFDBI	0.050566	0.08850	N	-1.2031374661446	0.04954	0.2247241	-1.30250406200404	0.04398	0.2073491	0.999988271862121	0.51787	0.615465	0.37627	0	0.541556	0.11502	0	0.658983	0.55881	0	0.563494	0.21769	0	.	.	5.42	-5.47	0.02396	0.068000	0.14398	0.225000	0.16120	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.0:0.1375:0.6078:0.2546	9.615	0.38850	980	0.04108	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1706.33	33	chr15	99129586	.	C	T	1706.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.371;DP=1190;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=0.166;SOR=0.728	GT:AD:DP:GQ:PL	0/1:76,68:144:99:1720,0,2098	18	0	1	0
chr16	79449	79449	A	C	exonic	MPG	.	nonsynonymous SNV	MPG:NM_001015052:exon2:c.A49C:p.K17Q,MPG:NM_001015054:exon2:c.A13C:p.K5Q,MPG:NM_002434:exon3:c.A64C:p.K22Q	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.00470185907455	0.0015	0.000798722	0.0008	0.0005	0.0010	0.0005	0	0.0008	0.0022	0.0012	0.0008473	131	154602	rs3176383	0.0011	0.0011	0.0011	0.0011	0.0012	0.0010	0.0010	0.0011	0.0011	0.0006	0.0007	0	0.0007	3.811e-05	0.0005	0.0012	0.0011	0.0012	0.0008	0.0008	0.0008	0.0007	0.0012	0.0006	0.0006	0.0010	0.0009	0.0002	0	0.0011	0	0	0	0	0.0012	0.0005	0.0012	0.12	0.27904	T	0.383	0.15842	T	0.987	0.61912	D	0.755	0.56206	P	0.684417	0.06109	N	1.183850	0.979822	0.25155	N	1.195	0.30194	L	2.83	0.10771	T	-0.84	0.26422	N	0.209	0.23253	-1.0068	0.27912	T	0.039	0.16720	T	10	0.016524851	0.00349	T	0.004702	0.11691	T	0.069	0.20116	.	.	0.558578966169	0.55518	0.2727501964920052	0.27188	0.0689220398116	0.07714	0.59633487463	0.52387	T	0.014546	0.72728	T	-0.524774	0.00412	T	-0.533841	0.18906	T	0.596048533916473	0.36244	D	0.448855	0.15758	T	0.10833353	0.25614	0.05433051	0.09326	0.10833353	0.25614	0.05433051	0.09326	-4.004	0.23864	T	.	.	0.119	0.29004	B	.;.;.;.	.;.;.;.	2.359105	0.30252	18.38	0.85102130436835843	0.15687	0.68225	0.33722	D	AEFDBCI	0.298141	0.40753	N	-0.218632938775895	0.32369	1.824781	-0.167187411466869	0.32752	1.866488	0.999999996389627	0.74766	0.730579	0.87903	0	0.672317	0.65289	0	0.723109	0.80598	0	0.648885	0.59868	0	.	.	3.71	3.71	0.41733	3.581000	0.53658	3.813000	0.39918	0.754000	0.88378	0.991000	0.37257	1.000000	0.68203	0.303000	0.24570	1.0:0.0:0.0:0.0	9.065	0.35619	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	.	.	.	.	.	.	.	.	0.02632	1722.33	34	chr16	79449	.	A	C	1722.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.914;DP=807;ExcessHet=0;FS=2.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.41;ReadPosRankSum=-1.892;SOR=0.504	GT:AD:DP:GQ:PL	0/1:82,69:151:99:1736,0,2198	18	0	1	0
chr16	683700	683700	A	G	exonic	JMJD8	.	nonsynonymous SNV	JMJD8:NM_001323920:exon3:c.T217C:p.Y73H,JMJD8:NM_001323922:exon3:c.T217C:p.Y73H,JMJD8:NM_001005920:exon4:c.T307C:p.Y103H,JMJD8:NM_001323918:exon4:c.T307C:p.Y103H,JMJD8:NM_001323919:exon4:c.T307C:p.Y103H	.	408	1113	1	0	0	1	0.000449035	.	.	.	3448133	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.015116565888	.	0.000399361	0.0004	0	0.0004	0	0	2.974e-05	0.0022	0.0017	0.0001617	25	154602	rs550639526	8.741e-05	8.687e-05	4.515e-05	0.0001	0.0013	7.466e-05	7.012e-05	0.0011	0.0010	0	6.871e-05	0	0	0	0.0003	9.922e-06	4.996e-05	0.0013	2.626e-05	2.625e-05	0	5.371e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.345	0.12511	T	0.415	0.14326	T	.	.	.	.	.	.	0.000034	0.55875	D	0.124091	0.975696	0.81001	D	.	.	.	1.96	0.22270	T	-0.06	0.11366	N	0.363	0.44090	-1.0611	0.11483	T	0.032	0.13723	T	10	0.02399394	0.00645	T	0.015117	0.35666	T	0.058	0.16647	.	.	0.146414634003	0.14194	0.589941215034345	0.58924	0.0272738909129	0.02785	0.622760891914	0.56119	T	0.010504	0.09483	T	-0.560411	0.00252	T	-0.62332	0.10926	T	0.0565920671433829	0.06621	T	0.880912	0.69728	D	0.12301032	0.28893	0.24850446	0.50403	0.12301032	0.28893	0.24850446	0.50402	-7.127	0.54955	T	.	.	0.223	0.52776	B	.;.;.;.	.;.;.;.	3.152062	0.42675	21.6	0.76604272361536374	0.11535	0.96365	0.68782	D	AEFDGBHCI	0.528628	0.55007	D	-0.402109141549209	0.25395	1.378236	-0.320560947648325	0.27434	1.522335	0.99999999999598	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.52208	0.10781	0	0.638787	0.57140	0	.	.	4.02	2.92	0.32998	3.438000	0.52634	9.056000	0.78652	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.467000	0.28274	0.9012:0.0:0.0988:0.0	8.157	0.30337	628	0.65206	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.000000	0.000000	0.000000	0.003067	0.000000	0.02632	1351.33	43	chr16	683700	.	A	G	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.027;DP=820;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-0.007;SOR=0.743	GT:AD:DP:GQ:PL	0/1:44,52:96:99:1365,0,1150	18	0	1	0
chr16	797694	797694	C	G	exonic	CHTF18	.	nonsynonymous SNV	CHTF18:NM_022092:exon21:c.C2734G:p.P912A	.	.	.	.	.	.	.	.	0.0012	0.13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.0160529497562	.	.	.	.	.	.	.	.	.	.	.	.	.	rs576984915	1.37e-06	1.368e-06	1.363e-06	1.377e-06	2.237e-05	2.3e-07	9e-08	.	.	0	2.237e-05	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.40573	T	0.188	0.28669	T	0.996	0.68779	D	0.817	0.59784	P	0.000007	0.62929	D	0.112188	0.999938	0.51612	D	3.02	0.86243	M	2.74	0.11730	T	-3.11	0.63669	D	0.278	0.35832	-1.1418	0.01292	T	0.069	0.28379	T	9	0.21871614	0.38521	T	0.016053	0.37112	T	0.095	0.27398	0.233	0.16155	0.107399877778	0.10242	0.22964399424668214	0.22879	.	.	0.352674722672	0.18315	T	0.290284	0.66305	T	-0.18231	0.23392	T	-0.499652	0.22383	T	0.934304714202881	0.60168	D	0.682032	0.29067	T	0.09303396	0.21842	0.088506356	0.20641	0.09303396	0.21842	0.088506356	0.20641	-5.8	0.44574	T	.	.	0.079	0.07272	B	.;.;.;.	.;.;.;.	2.639164	0.34336	19.60	0.99013211029512627	0.50420	0.92211	0.55193	D	AEFDBI	0.234169	0.35697	N	0.218946115780321	0.52119	3.388042	0.0958886599659969	0.44340	2.717767	0.989854692390523	0.31956	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.54	2.56	0.29842	1.790000	0.38366	2.870000	0.35260	-0.264000	0.06851	0.979000	0.35152	1.000000	0.68203	0.166000	0.20848	0.1587:0.6884:0.1529:0.0	9.744	0.39602	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	.	.	.	.	.	.	.	.	0.02632	623.33	35	chr16	797694	.	C	G	623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.556;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=0.471;SOR=0.709	GT:AD:DP:GQ:PL	0/1:39,29:68:99:637,0,879	18	0	1	0
chr16	1241546	1241546	G	A	exonic	TPSAB1	.	nonsynonymous SNV	TPSAB1:NM_003294:exon4:c.G346A:p.A116T	.	.	.	.	.	.	.	.	.	.	.	2340871	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.345	0.247432411414	.	.	0.0025	0.0030	0.0010	0.0070	0	0.0031	0	0.0009	3.84e-05	1	26028	rs776125003	0.0002	0.0058	0.0003	0.0002	0.0060	0.0002	0.0002	0.0053	0.0050	0.0060	0.0006	0	5.986e-05	7.346e-05	0	5.828e-05	0.0007	9.971e-05	0.0042	0.0096	0.0042	0.0041	0.0106	0.0039	0.0037	0.0097	0.0093	0.0106	0.0029	0.0025	0.0011	0.0033	0.0012	0.0042	0.0013	0.0033	0.0017	0.106	0.29688	T	0.43	0.13713	T	0.187	0.29285	B	0.017	0.18140	B	0.420246	0.04643	N	1.449630	1	0.08975	N	-0.65	0.02095	N	-2.39	0.88377	D	-2.13	0.49846	N	0.157	0.20262	-0.7445	0.58221	T	0.294	0.66593	T	10	0.013931662	0.00294	T	0.247432	0.88969	D	0.345	0.66676	.	.	0.124217242631	0.12060	0.16895153375309466	0.16815	1.63024933842	0.89211	0.254318475723	0.04237	T	0.395	0.75370	T	-0.382626	0.02999	T	-0.308767	0.43792	T	0.00735191713062015	0.00084	T	0.0922908	0.00682	T	0.25843433	0.48892	0.19273455	0.42804	0.25843433	0.48892	0.19273455	0.42803	-4.464	0.30414	T	.	.	0.135	0.33891	B	.;.;.	.;.;.	-0.227458	0.02955	0.436	0.94377698932161469	0.24747	0.00884	0.03485	N	AEFGI	0.043783	0.06965	N	-1.58358113437021	0.01349	0.05875584	-1.6379110734746	0.01440	0.06511009	1.33674500257934E-4	0.05486	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	3.9	-3.87	0.03939	-3.324000	0.00567	-20.000000	0.00162	-1.167000	0.01404	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3656:0.2703:0.2267:0.1375	1.081	0.01541	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	38.17	26	chr16	1241546	.	G	A	38.17	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-3.362;DP=656;ExcessHet=0;FS=0;InbreedingCoeff=-0.0573;MLEAC=1;MLEAF=0.029;MQ=29.8;MQRankSum=-3.439;QD=0.89;ReadPosRankSum=-2.573;SOR=0.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:51:0|1:1241544_C_T:51,0,1600:1241544	16	0	1	2
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,61:61:99:.:.:2263,201,0:.	4	5	5	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	667.98	41	chr16	1397281	.	G	*	667.98	.	AC=13;AF=0.382;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=14;MLEAF=0.412;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,61:61:99:.:.:2263,201,0:.	9	5	3	2
chr16	1952941	1952941	G	A	exonic	RPL3L	.	nonsynonymous SNV	RPL3L:NM_005061:exon3:c.C298T:p.R100W	.	427	1094	1	0	0	1	0.00045683	.	.	.	3413669	Cardiomyopathy,_dilated,_2D	MONDO:MONDO:0030300,MedGen:C5543535,OMIM:619371	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.463	0.138729560457	.	.	2.478e-05	0	0	0.0001	0	3.009e-05	0	0	1.94e-05	3	154602	rs757685943	3.968e-05	3.967e-05	3.948e-05	3.988e-05	0.0003	3.113e-05	2.847e-05	6.094e-05	2.956e-05	5.977e-05	2.236e-05	0	2.52e-05	0	0.0003	4.317e-05	3.312e-05	2.319e-05	2.629e-05	2.627e-05	1.284e-05	4.037e-05	2.94e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	0	0	0	9.42e-05	0	2.94e-05	0.0005	0	0.0	0.91255	D	0.081	0.41742	T	1.0	0.90584	D	0.881	0.62579	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	3.155	0.88459	M	1.58	0.29085	T	-7.36	0.94647	D	0.726	0.72746	-0.6614	0.62215	T	0.192	0.54521	T	10	0.8814759	0.87459	D	0.13873	0.82122	D	0.463	0.75956	0.785	0.90844	0.831545333466	0.82994	0.7958484076814499	0.79537	0.213320323887	0.23841	0.741887688637	0.73251	T	0.212827	0.57398	T	0.0835964	0.62459	D	0.0514322	0.73678	D	0.838191151618958	0.49180	D	0.930507	0.74278	D	0.8764543	0.89378	0.87239826	0.93031	0.8764543	0.89379	0.87239826	0.93032	-9.687	0.72017	D	.	.	0.220	0.45111	B	.	.	4.125917	0.61706	24.4	0.9989018353231417	0.96436	0.80656	0.40238	D	AEFDBHCIJ	0.866198	0.78555	D	0.529588365523542	0.68849	5.274003	0.433623383836401	0.63671	4.605701	0.994825486213364	0.33818	0.525926	0.21836	0	0.615948	0.52940	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.28	3.26	0.36471	4.268000	0.58681	1.336000	0.25703	0.652000	0.53365	1.000000	0.71638	0.876000	0.27648	0.998000	0.85391	0.0:0.0:0.5606:0.4394	13.054	0.58379	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	.	.	.	.	.	.	.	.	0.02632	1521.33	35	chr16	1952941	.	G	A	1521.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=769;ExcessHet=0;FS=2.227;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.732;SOR=0.904	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1535,0,1462	18	0	1	0
chr16	2110903	2110903	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4264A:p.A1422T,PKD1:NM_001009944:exon15:c.G4264A:p.A1422T	Polycystic kidney disease, adult type I, Autosomal dominant	0	1459	63	0	0	63	0.0211338	.	.	YES	255621	Polycystic_kidney_disease,_adult_type|not_specified|Polycystic_kidney_disease|PKD1-related_disorder|Autosomal_dominant_polycystic_kidney_disease|not_provided	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|.|MONDO:MONDO:0004691,MedGen:C0085413,Orphanet:730|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.018	.	0.0062	0.00439297	0.0060	0.0010	0.0039	0	0.0011	0.0087	0.0114	0.0046	0.0052587	813	154602	rs140980374	0.0055	0.0055	0.0055	0.0055	0.0489	0.0054	0.0053	0.0438	0.0418	0.0018	0.0039	0.0313	0	0.0015	0.0489	0.0052	0.0080	0.0043	0.0050	0.0050	0.0051	0.0048	0.0066	0.0047	0.0046	0.0056	0.0055	0.0011	0	0.0066	0.0343	0.0002	0.0011	0.0476	0.0061	0.0109	0.0052	0.408	0.10212	T	0.469	0.12281	T	0.083	0.24734	B	0.016	0.17743	B	0.050289	0.02010	N	1.849850	1	0.08975	N	0.09	0.08384	N	0.2	0.60111	T	0.14	0.07299	N	0.085	0.10056	-1.0837	0.06646	T	0.063	0.26101	T	10	0.004206896	0.00084	T	.	.	.	0.018	0.03083	.	.	0.554512861526	0.55110	0.1595016433388556	0.15871	.	.	0.313498318195	0.12435	T	0.14814	0.48654	T	-0.574826	0.00207	T	-0.588086	0.13831	T	0.000983470398017093	0.00009	T	0.241376	0.03476	T	0.026695253	0.01759	0.039109476	0.03930	0.024509832	0.01289	0.03141386	0.01727	-4.259	0.27598	T	.	.	0.068	0.02765	B	.;.	.;.	-0.537291	0.01752	0.132	0.5816343026315014	0.05931	0.08769	0.14649	N	AEFDBI	0.101493	0.20382	N	-1.57943668556335	0.01370	0.05972494	-1.60320823478749	0.01636	0.0742432	6.34175795696538E-4	0.07505	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	3.77	-1.84	0.07387	-0.060000	0.11669	-3.211000	0.02967	-1.044000	0.01656	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1824:0.3674:0.0:0.4502	3.443	0.07038	650	0.62973	PKD domain|PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	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	0.040541	0.012346	0.061644	0.068376	0.166667	0.051724	0.010204	0.012000	0.02632	1847.33	33	chr16	2110903	.	C	T	1847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.58;DP=1140;ExcessHet=0;FS=2.098;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.83;ReadPosRankSum=0.68;SOR=0.671	GT:AD:DP:GQ:PL	0/1:75,69:144:99:1861,0,1837	18	0	1	0
chr16	2799410	2799410	C	G	exonic	PRSS41	.	nonsynonymous SNV	PRSS41:NM_001354586:exon3:c.C421G:p.L141V	.	424	1075	22	1	0	24	0.0110396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00179712	0.0029	0	0	0	0.0006	0.0037	0.0082	0.0035	0.0007244	112	154602	rs61747736	0.0023	0.0022	0.0023	0.0023	0.0046	0.0023	0.0022	0.0032	0.0027	0.0003	0.0006	0.0026	0	0.0009	0.0046	0.0025	0.0020	0.0030	0.0014	0.0014	0.0015	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0002	0	0.0007	0.0026	0	0.0010	0	0.0024	0.0009	0.0023	.	.	.	.	.	.	0.022	0.18677	B	0.063	0.27082	B	.	.	.	.	.	.	.	-0.035	0.05024	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006442189	0.00146	T	.	.	.	.	.	.	.	.	.	0.49822769540664114	0.49743	.	.	0.239097505808	0.02710	T	0.205657	0.56477	T	.	.	.	.	.	.	.	.	.	0.327067	0.06771	T	0.027999746	0.02073	0.053832747	0.09143	0.027999746	0.02073	0.053832747	0.09143	-3.782	0.20536	T	.	.	0.070	0.03372	B	.	.	-2.139565	0.00074	0.001	0.43225363809078776	0.03240	0.02797	0.07515	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.99999968962116	0.74766	0.077785	0.01820	0	0.063388	0.01293	0	0.074216	0.02223	0	0.088932	0.02473	0	0.0664013	0.15811	4.53	-9.06	0.00623	-10.283000	0.00010	-4.160000	0.02308	-2.035000	0.00427	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1243:0.4085:0.2202:0.2471	2.478	0.04302	513	0.74941	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	0.003006	0.000000	0.000000	0.008130	0.000000	0.000000	0.000000	0.009434	0.02632	2928.33	34	chr16	2799410	.	C	G	2928.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.158;DP=857;ExcessHet=0;FS=1.031;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=-0.311;SOR=0.605	GT:AD:DP:GQ:PL	0/1:108,118:226:99:2942,0,2663	18	0	1	0
chr16	3204661	3204661	C	T	exonic	OR1F1	.	stopgain	OR1F1:NM_012360:exon3:c.C415T:p.Q139X,OR1F1:NM_001370639:exon4:c.C445T:p.Q149X,OR1F1:NM_001370640:exon4:c.C445T:p.Q149X,OR1F1:NM_001370641:exon5:c.C415T:p.Q139X	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	5.472e-06	5.472e-06	4.084e-06	6.875e-06	0.0005	2.35e-06	1.7e-06	0.0001	7.541e-05	0	0	0	0	0	0.0005	1.799e-06	3.311e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140327	0.18313	N	0.505358	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.007	0.00055	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328657	0.85072	D	0.234316	0.84876	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.062184	0.96095	35	0.99011145602396422	0.50356	0.06209	0.12196	N	AEFBI	0.065562	0.12796	N	0.415109482029389	0.62251	4.438172	0.16546774982232	0.47966	3.019186	5.1474211486011E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.27	3.19	0.35720	-2.189000	0.01333	.	.	0.444000	0.21144	0.000000	0.06391	0.000000	0.08366	0.966000	0.53164	0.2922:0.6163:0.0:0.0915	6.000	0.18746	725	0.54935	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2837.33	260	chr16	3204661	.	C	T	2837.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.82;DP=2072;ExcessHet=0;FS=1.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=0.582;SOR=0.543	GT:AD:DP:GQ:PL	0/1:88,99:187:99:2851,0,2452	18	0	1	0
chr16	3243257	3243257	C	A	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon10:c.G2230T:p.A744S	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	YES	17587	not_provided|Familial_Mediterranean_fever|Familial_Mediterranean_fever,_autosomal_dominant|not_specified|MEFV-related_disorder|Inborn_genetic_diseases|Acute_febrile_neutrophilic_dermatosis|Autoinflammatory_syndrome	MedGen:C3661900|MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MedGen:CN169374|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.365	0.0149765821512	0.0013	0.00179712	0.0015	0.0004	0.0018	0	0.0008	0.0021	0.0011	0.0004	0.0015265	236	154602	rs61732874	0.0016	0.0016	0.0016	0.0016	0.0151	0.0016	0.0016	0.0125	0.0116	0.0007	0.0029	0.0132	0	0.0004	0.0151	0.0014	0.0026	0.0004	0.0017	0.0017	0.0018	0.0017	0.0041	0.0015	0.0015	0.0032	0.0030	0.0006	0	0.0041	0.0124	0	0.0003	0.0136	0.0017	0.0047	0	0.423	0.09746	T	0.623	0.07368	T	0.0	0.02946	B	0.001	0.04355	B	0.065246	0.21894	N	0.331114	1	0.81001	D	-1.595	0.00428	N	-0.31	0.68030	T	1.05	0.01488	N	0.194	0.70702	-0.9319	0.43859	T	0.026	0.11220	T	9	0.0056206584	0.00125	T	0.014977	0.35442	T	0.365	0.68495	.	.	0.497214377195	0.49355	0.1082556167298569	0.10754	0.103948646117	0.11761	0.248399183154	0.03601	T	0.291593	0.66434	T	-0.335292	0.05721	T	-0.258703	0.48953	T	0.00430496246277024	0.00046	T	0.537046	0.18930	T	0.102533445	0.24229	0.07548105	0.16620	0.0862295	0.20033	0.062804714	0.12343	-0.836	0.01229	T	.	.	0.065	0.02091	B	.;.;.	.;.;.	0.010176	0.04355	1.114	0.21013980907273649	0.00782	0.48850	0.28300	N	AEFDBHI	0.196112	0.32311	N	-2.04489251638773	0.00169	0.007246577	-1.86378373459854	0.00576	0.02556432	0.9996164345938	0.40981	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.6	-3.05	0.05069	0.648000	0.24515	.	.	-1.767000	0.00669	0.893000	0.31264	0.006000	0.19429	0.002000	0.04165	0.4422:0.2087:0.0:0.3491	4.186	0.09859	784	0.47045	SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|Butyrophylin-like, SPRY domain|B30.2/SPRY domain|SPRY domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012588	0.005051	0.010870	0.032164	0.000000	0.025862	0.003049	0.007576	0.02632	2496.33	38	chr16	3243257	.	C	A	2496.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=835;ExcessHet=0;FS=3.167;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=3.19;SOR=0.511	GT:AD:DP:GQ:PL	0/1:106,95:201:99:2510,0,2637	18	0	1	0
chr16	4885944	4885944	T	C	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon22:c.A2711G:p.E904G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.0387441041193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.84e-07	1.362e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.049	0.48336	D	0.546	0.38028	P	0.136	0.33270	B	0.001412	0.39109	N	0.218105	0.927806	0.36876	D	2.39	0.68882	M	0.68	0.51952	T	-3.16	0.64246	D	0.116	0.15469	-0.8647	0.50922	T	0.112	0.40191	T	10	0.2853037	0.46112	T	0.038744	0.58406	D	0.082	0.23913	0.155	0.05858	0.725089307665	0.72265	0.11708513581255837	0.11636	0.0264716637183	0.02702	0.258670568466	0.04734	T	0.597503	0.87051	D	-0.173711	0.24676	T	-0.487301	0.23673	T	0.880983531475067	0.53102	D	0.867613	0.56877	D	0.14235456	0.32763	0.18452641	0.41510	0.14235456	0.32763	0.18452641	0.41509	-5.163	0.38563	T	.	.	0.072	0.10400	B	.;.;.	.;.;.	3.810472	0.54964	23.6	0.99852281302513435	0.93191	0.92104	0.54953	D	AEFBCI	0.699518	0.65683	D	0.0696078612544262	0.45049	2.768058	0.151362924414707	0.47214	2.955054	0.999986657683355	0.51787	0.706548	0.73137	0	0.572659	0.20510	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	5.07	5.07	0.68106	3.994000	0.56707	7.955000	0.75925	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.631000	0.32184	0.0:0.0:0.0:1.0	14.830	0.69767	475	0.77788	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2122.33	42	chr16	4885944	.	T	C	2122.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.482;DP=990;ExcessHet=0;FS=2.726;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=0.059;SOR=0.506	GT:AD:DP:GQ:PL	0/1:84,81:165:99:2136,0,2215	18	0	1	0
chr16	10694731	10694731	T	A	exonic	TEKT5	.	nonsynonymous SNV	TEKT5:NM_144674:exon1:c.A143T:p.N48I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0037740898639	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.225	0.25514	T	0.019	0.17989	B	0.028	0.21332	B	0.002023	0.37411	N	0.195598	0.992641	0.23848	N	2.56	0.74772	M	4.1	0.02944	T	-0.51	0.15986	N	0.476	0.51137	-0.9492	0.41109	T	0.008	0.02884	T	10	0.15762416	0.29659	T	0.003774	0.08775	T	0.051	0.14325	0.462	0.53079	0.295623431141	0.29171	0.44248181803434294	0.44165	0.0280664298658	0.02883	0.49668610096	0.38365	T	0.013585	0.11722	T	-0.16731	0.25641	T	-0.478105	0.24648	T	0.22488060593605	0.21705	T	0.739826	0.35853	T	0.105488844	0.24942	0.09359363	0.22115	0.105488844	0.24942	0.09359363	0.22114	-6.51	0.50363	T	.	.	0.249	0.48324	B	.	.	1.194498	0.15859	12.15	0.97040763667557062	0.32109	0.77984	0.38410	D	AEFDBI	0.149820	0.27399	N	-0.366686258620493	0.26664	1.456907	-0.28542073566796	0.28577	1.594516	0.203422730482651	0.18152	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.99	2.68	0.30839	0.786000	0.26505	.	.	0.665000	0.62972	0.905000	0.31549	0.006000	0.19429	0.730000	0.35099	0.1783:0.1434:0.1858:0.4925	0.836	0.01067	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1085.33	39	chr16	10694731	.	T	A	1085.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.892;DP=798;ExcessHet=0;FS=0.778;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.553;SOR=0.559	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1099,0,1320	18	0	1	0
chr16	11927453	11927458	CGGCCC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.587_592del:p.R196_A198delinsT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0044	0	0	0	0	0	0	3.84e-05	1	26028	rs767307475	1.011e-05	8.808e-06	1.222e-05	8.024e-06	0.0004	5.11e-06	3.73e-06	0.0002	0.0001	0.0004	5.122e-05	0	0	0	0	0	4.807e-05	0	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	0	0	0	0	0	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2995.78	34	chr16	11927452	.	GCGGCCC	G	2995.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.46;DP=1582;ExcessHet=2.0135;FS=1.863;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.11;ReadPosRankSum=-1.288;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,87:167:99:0|1:11927452_GCGGCCC_G:3009,0,3034:11927452	18	0	1	0
chr16	11927460	11927495	CCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	-	exonic	NPIPB2	.	nonframeshift deletion	NPIPB2:NM_001355514:exon9:c.550_585del:p.A184_R195del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0066	0	0	0	0	0	0	3.84e-05	1	26028	rs752461034	9.48e-06	7.925e-06	1.142e-05	7.557e-06	0.0004	4.79e-06	3.5e-06	0.0002	0.0001	0.0004	5.046e-05	0	0	0	0	0	4.56e-05	0	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	0	0	0	0	0	0	0	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2954.78	34	chr16	11927459	.	TCCGCCTCTTGGGTTCGGGTGGTGATTCCACCTCAGC	T	2954.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=1597;ExcessHet=2.0135;FS=2.628;InbreedingCoeff=-0.1875;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=-0.684;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,87:181:99:0|1:11927452_GCGGCCC_G:2968,0,3536:11927452	18	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	65183.6	187	chr16	11927475	.	G	*	65183.6	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.94;DP=3186;ExcessHet=0.0151;FS=0.819;InbreedingCoeff=0.4571;MLEAC=6;MLEAF=0.158;MQ=59.99;MQRankSum=0;QD=21.88;ReadPosRankSum=-0.239;SOR=0.763	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,85:169:99:1|0:11927452_GCGGCCC_G:5347,2360,3302:11927452	13	0	6	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:89,58:147:99:205,0,1362	4	0	15	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1416.55	75	chr16	14667707	.	GCCCC	G	1416.55	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.548;DP=1073;ExcessHet=4.0268;FS=83.656;InbreedingCoeff=-0.2788;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.47;SOR=9.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,9:67:99:0|1:14667707_GCCCC_G:105,0,2231:14667707	11	0	8	0
chr16	14667711	14667711	-	GGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insGGGG:p.L288Rfs*19,BFAR:NM_016561:exon8:c.1237_1238insGGGG:p.L413Rfs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	1294.52	71	chr16	14667711	.	C	CGGGG	1294.52	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,9:67:99:0|1:14667707_GCCCC_G:105,0,2231:14667707	15	0	4	0
chr16	15696822	15696822	A	T	exonic	NDE1	.	nonsynonymous SNV	NDE1:NM_017668:exon8:c.A909T:p.R303S,NDE1:NM_001143979:exon9:c.A909T:p.R303S	Lissencephaly 4 (with microcephaly), Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	429776	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.051	0.0070883514405	.	0.00119808	0.0005	0	0	0	0	0	0	0.0039	0.0004657	72	154602	rs538373943	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	2.987e-05	0	0	0	0	0.0007	3.597e-06	0.0003	0.0032	0.0001	0.0001	7.712e-05	0.0001	0.0031	7.089e-05	5.746e-05	0.0019	0.0016	0	0	6.545e-05	0	0	0	0.0034	0	0	0.0031	0.242	0.17584	T	0.857	0.05663	T	0.002	0.09854	B	0.003	0.08700	B	0.015222	0.28305	N	0.412983	0.999999	0.08975	N	0.805	0.20218	L	.	.	.	0.95	0.01509	N	0.199	0.22486	-0.9881	0.33077	T	0.068	0.27980	T	9	0.004129559	0.00081	T	0.007088	0.18786	T	0.051	0.14325	0.458	0.52427	0.194818534648	0.19098	0.40627632247168693	0.40543	0.0829935287975	0.09363	0.310200691223	0.11937	T	0.041592	0.25909	T	-0.491282	0.00639	T	-0.479942	0.24452	T	0.0166482436122529	0.00424	T	0.849515	0.58433	T	0.051304705	0.09400	0.058235094	0.10727	0.052860986	0.09919	0.06417428	0.12823	-3.729	0.19747	T	.	.	0.164	0.46238	B	.;.;.;.;.	.;.;.;.;.	0.525375	0.08943	5.722	0.66330036007358506	0.08027	0.25576	0.22740	N	AEFDBI	0.137880	0.25900	N	-1.4368682715203	0.02322	0.102395	-1.5078236834773	0.02283	0.1047737	0.463946100715928	0.20648	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.56	-6.0	0.02021	0.031000	0.13598	0.156000	0.15349	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2971:0.1078:0.5951:0.0	13.300	0.59757	319	0.87030	NUDE domain;NUDE domain;NUDE domain;NUDE domain;NUDE domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1761.33	34	chr16	15696822	.	A	T	1761.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=787;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.931;SOR=0.716	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1775,0,1657	18	0	1	0
chr16	15737469	15737469	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon25:c.G3273C:p.E1091D,MYH11:NM_022844:exon25:c.G3273C:p.E1091D,MYH11:NM_001040113:exon26:c.G3294C:p.E1098D,MYH11:NM_001040114:exon26:c.G3294C:p.E1098D	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.654	0.235808601679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.121e-06	0.0006	2.735e-06	5.52e-06	5.418e-06	1.48e-06	9.7e-07	1.95e-06	1.28e-06	0	0	0	0	0	0	5.418e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.042	0.50809	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.17	0.88688	M	-2.03	0.85613	D	-2.65	0.56787	D	0.606	0.62611	0.430	0.89548	D	0.701	0.89720	D	10	0.6764679	0.71021	D	0.235809	0.88472	D	0.654	0.86986	0.698	0.83499	0.779133547495	0.77709	0.4116602736475309	0.41082	0.679322545901	0.59932	0.714547514915	0.69252	T	0.706525	0.91594	D	0.131727	0.67530	D	-0.0485592	0.67121	D	0.992635309696198	0.83166	D	0.973153	0.90356	D	0.7353764	0.80028	0.68017244	0.81208	0.7353764	0.80030	0.68017244	0.81209	-6.584	0.50930	T	.	.	0.308	0.54235	B	.;.;.;.	.;.;.;.	3.630536	0.51428	23.1	0.99853434718816803	0.93279	0.92177	0.55116	D	AEFDBI	0.386356	0.46675	N	0.525207924041628	0.68586	5.237489	0.447231713618172	0.64537	4.71138	0.697865859038821	0.22662	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.54	3.34	0.37357	0.651000	0.24559	0.378000	0.17749	-0.181000	0.10308	0.998000	0.41325	0.992000	0.31684	0.970000	0.54328	0.0:0.8076:0.0:0.1924	9.306	0.37035	335	0.86220	.;.;Myosin tail;Myosin tail	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.03571	60.14	45	chr16	15737469	.	C	G	60.14	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-3.822;DP=761;ExcessHet=0;FS=38.031;InbreedingCoeff=-0.1241;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=1.9;SOR=5.548	GT:AD:DP:GQ:PL	0/1:46,9:61:71:71,0,2100	13	0	1	5
chr16	15737471	15737471	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon25:c.G3271C:p.E1091Q,MYH11:NM_022844:exon25:c.G3271C:p.E1091Q,MYH11:NM_001040113:exon26:c.G3292C:p.E1098Q,MYH11:NM_001040114:exon26:c.G3292C:p.E1098Q	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	465984	Aortic_aneurysm,_familial_thoracic_4	MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.818	0.453135833294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	6.909e-05	1.363e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.002	0.79402	D	0.998	0.73220	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.63	0.94006	H	-1.86	0.84341	D	-2.65	0.56787	D	0.679	0.68863	0.772	0.94066	D	0.780	0.92537	D	10	0.8477385	0.83944	D	0.453136	0.94379	D	0.818	0.94162	0.704	0.84054	0.821746563002	0.82006	0.5016766647590112	0.50089	0.712031157995	0.61752	0.707606196404	0.68246	T	0.707871	0.91643	D	0.210846	0.74909	D	0.0650889	0.74583	D	0.997660279273987	0.92113	D	0.940673	0.77758	D	0.7682959	0.81945	0.71175104	0.82994	0.7682959	0.81947	0.71175104	0.82995	-9.7	0.74014	D	.	.	0.489	0.65815	A	.;.;.;.	.;.;.;.	4.911205	0.80804	27.4	0.99850700137799431	0.93013	0.99129	0.91652	D	AEFDBI	0.906975	0.86041	D	0.811101436078604	0.86797	9.001683	0.734437195816277	0.84992	8.448989	0.999999999587014	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.54	4.54	0.55220	7.848000	0.85199	7.617000	0.62147	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	16.277	0.82473	335	0.86220	.;.;Myosin tail;Myosin tail	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.03125	39.56	49	chr16	15737471	.	C	G	39.56	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-2.937;DP=803;ExcessHet=0;FS=20.6;InbreedingCoeff=-0.0713;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=1.88;SOR=4.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,9:63:52:0|1:15737471_C_G:52,0,2157:15737471	15	0	1	3
chr16	15737472	15737472	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon25:c.G3270C:p.E1090D,MYH11:NM_022844:exon25:c.G3270C:p.E1090D,MYH11:NM_001040113:exon26:c.G3291C:p.E1097D,MYH11:NM_001040114:exon26:c.G3291C:p.E1097D	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.0282583756542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33418	T	0.41	0.16522	T	0.01	0.15535	B	0.072	0.28043	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.705	0.79137	M	-1.18	0.78314	T	-2.21	0.49684	N	0.322	0.36254	-0.7168	0.59619	T	0.356	0.71850	T	10	0.23374903	0.40399	T	0.028258	0.50961	D	0.376	0.69443	0.412	0.44887	0.74463304876	0.74233	0.2015355364436243	0.20070	0.605065792399	0.55414	0.702425003052	0.67495	T	0.530742	0.83757	D	0.0088194	0.52864	T	-0.225108	0.52245	T	0.922700703144073	0.58298	D	0.922508	0.71813	D	0.2151929	0.43946	0.24089086	0.49473	0.2151929	0.43945	0.24089086	0.49472	-6.86	0.53004	T	.	.	0.157	0.39596	B	.;.;.;.	.;.;.;.	2.404336	0.30891	18.58	0.99191852609168241	0.54994	0.87608	0.47203	D	AEFDBI	0.358912	0.44942	N	-0.558698588241648	0.20212	1.063838	-0.498624891933992	0.22191	1.204151	0.326326864178837	0.19438	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.54	0.011	0.13405	0.058000	0.14178	0.575000	0.19646	-0.187000	0.09635	0.911000	0.31706	0.998000	0.33993	0.981000	0.58702	0.0:0.5122:0.0:0.4878	8.920	0.34763	335	0.86220	.;.;Myosin tail;Myosin tail	.	.	.	.	.	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	1	0	0	0	.	.	.	.	.	.	.	.	0.02778	35.73	51	chr16	15737472	.	C	G	35.73	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-2.781;DP=799;ExcessHet=0;FS=20.315;InbreedingCoeff=-0.0421;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=2.01;SOR=4.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,9:64:49:0|1:15737471_C_G:49,0,2178:15737471	17	0	1	1
chr16	15737474	15737474	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon25:c.G3268C:p.E1090Q,MYH11:NM_022844:exon25:c.G3268C:p.E1090Q,MYH11:NM_001040113:exon26:c.G3289C:p.E1097Q,MYH11:NM_001040114:exon26:c.G3289C:p.E1097Q	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	0.0839038385692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.343	0.20228	T	0.915	0.50599	P	0.836	0.59919	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.4	0.91674	M	-1.16	0.78082	T	-2.37	0.52289	N	0.516	0.54671	0.189	0.85714	D	0.597	0.85618	D	10	0.45931077	0.59186	T	0.083904	0.74213	D	0.437	0.74164	0.415	0.45380	0.7208298908	0.71836	0.21485147953102357	0.21401	0.654683913023	0.58537	0.692424356937	0.66054	T	0.551094	0.84802	D	0.0921384	0.63428	D	-0.105426	0.62973	T	0.976864159107208	0.71575	D	0.945705	0.79334	D	0.4581414	0.64555	0.36118817	0.61547	0.4581414	0.64555	0.36118817	0.61547	-9.222	0.69972	D	.	.	0.295	0.54861	B	.;.;.;.	.;.;.;.	4.753457	0.76773	26.6	0.99845744150841143	0.92576	0.98174	0.80243	D	AEFDBI	0.755370	0.69496	D	0.613258267699215	0.74011	6.060975	0.57321252384673	0.73025	5.903538	0.999985179771473	0.51787	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.54	4.54	0.55220	6.080000	0.70936	7.617000	0.62147	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.277	0.82473	335	0.86220	.;.;Myosin tail;Myosin tail	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	38.63	59	chr16	15737474	.	C	G	38.63	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.176;DP=814;ExcessHet=0;FS=20.6;InbreedingCoeff=-0.0395;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.61;ReadPosRankSum=2.06;SOR=4.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,9:63:52:0|1:15737471_C_G:52,0,2157:15737471	18	0	1	0
chr16	16190259	16190259	C	T	exonic	ABCC6	.	nonsynonymous SNV	ABCC6:NM_001171:exon12:c.G1540A:p.V514I,ABCC6:NM_001351800:exon12:c.G1198A:p.V400I	Arterial calcification, generalized, of infancy, 2, Autosomal recessive;Pseudoxanthoma elasticum, Autosomal recessive;Pseudoxanthoma elasticum, forme fruste, Autosomal dominant	0	1501	19	2	0	23	0.00760331	.	.	.	427008	Autosomal_recessive_inherited_pseudoxanthoma_elasticum|ABCC6-related_disorder|not_provided|not_specified|Pseudoxanthoma_elasticum,_forme_fruste|Arterial_calcification,_generalized,_of_infancy,_2	MONDO:MONDO:0009925,MedGen:C1275116,OMIM:264800,Orphanet:758|.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0008333,MedGen:C1867450,OMIM:177850,Orphanet:758|MONDO:MONDO:0013768,MedGen:C3276161,OMIM:614473,Orphanet:51608	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.163	0.033046240668	0.0005	0.000399361	0.0010	0.0005	0.0016	0	0	0.0006	0	0.0032	0.000912	141	154602	rs59157279	0.0007	0.0007	0.0006	0.0008	0.0102	0.0007	0.0007	0.0081	0.0074	0.0002	0.0016	0.0025	0	0	0.0102	0.0004	0.0012	0.0033	0.0005	0.0006	0.0005	0.0006	0.0017	0.0005	0.0004	0.0008	0.0006	0.0003	0	0.0008	0.0037	0	0	0.0068	0.0005	0.0014	0.0017	0.181	0.21884	T	0.29	0.21011	T	0.166	0.28547	B	0.09	0.29851	B	0.104366	0.19706	U	0.347007	0.99507	0.42533	D	0.63	0.15941	N	-2.36	0.88143	D	-0.63	0.18459	N	0.151	0.15469	-0.5378	0.67247	T	0.458	0.78941	T	10	0.012797385	0.00274	T	0.033046	0.54705	D	0.163	0.42028	.	.	0.546908861191	0.54346	0.5153553782072774	0.51458	0.0645801275031	0.07206	0.338811844587	0.16260	T	0.197894	0.55470	T	-0.38013	0.03110	T	-0.322172	0.42336	T	0.00753238957622457	0.00087	T	0.660434	0.26965	T	0.053384278	0.10094	0.051525753	0.08311	0.044016052	0.06964	0.0441372	0.05651	-5.171	0.39476	T	0.1380891702148715	0.15249	0.079	0.07083	B	.;.	.;.	1.427865	0.18454	13.75	0.98217761430772799	0.39272	0.58761	0.30729	D	AEFBCI	0.127042	0.24424	N	-0.591675811368094	0.19197	1.002777	-0.565475637671921	0.20396	1.098663	0.819202841281706	0.24493	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.07	0.159	0.14256	1.654000	0.36950	-0.239000	0.10608	0.598000	0.34611	0.994000	0.38300	0.000000	0.08366	0.128000	0.19490	0.0:0.6097:0.132:0.2583	7.399	0.26125	889	0.27310	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.008560	0.010101	0.010870	0.023392	0.000000	0.000000	0.003049	0.007576	0.02632	2080.33	35	chr16	16190259	.	C	T	2080.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.132;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-1.177;SOR=0.684	GT:AD:DP:GQ:PL	0/1:82,88:170:99:2094,0,2000	18	0	1	0
chr16	20317233	20317233	G	A	exonic	GP2	.	nonsynonymous SNV	GP2:NM_001007242:exon7:c.C955T:p.L319F,GP2:NM_001007241:exon8:c.C964T:p.L322F,GP2:NM_001502:exon8:c.C1396T:p.L466F,GP2:NM_001007240:exon9:c.C1405T:p.L469F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.0448895255778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.16466	T	0.693	0.25748	T	0.0	0.02946	B	0.001	0.13708	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	-1.59	0.82076	D	-1.23	0.31170	N	0.167	0.21969	-0.9105	0.46793	T	0.236	0.60282	T	9	0.09668049	0.17360	T	0.04489	0.61710	D	0.168	0.42943	0.421	0.46365	0.331619326243	0.32766	0.3476557141131042	0.34679	0.156681609038	0.17693	0.23840777576	0.02649	T	0.305252	0.67751	T	-0.209962	0.19384	T	-0.539373	0.18359	T	0.0518757333466779	0.05825	T	0.0525947	0.00376	T	0.037008733	0.04663	0.038518228	0.03738	0.037008733	0.04663	0.038518228	0.03738	-3.117	0.12863	T	.	.	0.085	0.11269	B	.;.;.;.	.;.;.;.	-0.839151	0.01032	0.043	0.90798038513687807	0.20047	0.02007	0.06042	N	AEFDBI	0.133173	0.25274	N	-1.46148614946181	0.02128	0.09363472	-1.56979677598441	0.01843	0.0839745	0.992174832387324	0.32745	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.43	-10.9	0.00151	-1.680000	0.02040	-2.462000	0.03724	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.838000	0.39538	0.1393:0.2766:0.2279:0.3562	1.868	0.03007	826	0.39940	.;.;Zona pellucida domain|Zona pellucida domain|Zona pellucida domain|Zona pellucida domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1401.33	34	chr16	20317233	.	G	A	1401.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.655;DP=755;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.29;ReadPosRankSum=-1.403;SOR=0.646	GT:AD:DP:GQ:PL	0/1:58,56:114:99:1415,0,1546	18	0	1	0
chr16	20384735	20384735	T	C	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon3:c.A319G:p.K107E	.	427	1076	18	1	0	20	0.0092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0049431137013	0.0005	0.000798722	0.0012	0	0.0011	0	0.0003	0.0011	0.0022	0.0036	0.0010931	169	154602	rs139688634	0.0009	0.0009	0.0007	0.0010	0.0191	0.0008	0.0008	0.0162	0.0151	0.0002	0.0013	0.0013	0	0	0.0191	0.0006	0.0012	0.0040	0.0006	0.0006	0.0006	0.0005	0.0029	0.0005	0.0004	0.0018	0.0014	9.629e-05	0	0.0005	0.0009	0	0	0.0170	0.0008	0.0005	0.0029	0.345	0.12511	T	0.072	0.43344	T	0.961	0.55431	D	0.819	0.59018	P	0.001728	0.38161	N	0.284743	0.974566	0.25484	N	1.09	0.27330	L	3.95	0.18875	T	-1.53	0.37178	N	0.274	0.31027	-1.0083	0.27448	T	0.017	0.06998	T	10	0.0080643	0.00183	T	0.004943	0.12442	T	0.104	0.29647	.	.	0.325263233342	0.32141	0.49038648215426794	0.48958	0.133627313775	0.15044	0.423970341682	0.28383	T	6.23E-4	0.16872	T	-0.443081	0.01240	T	-0.410704	0.32143	T	0.0784542778503305	0.09788	T	0.569643	0.21054	T	0.12892067	0.30125	0.14558943	0.34524	0.12892067	0.30125	0.14558943	0.34523	-3.332	0.14153	T	.	.	0.086	0.44410	B	.;.	.;.	2.519330	0.32554	19.08	0.99812969193351664	0.89620	0.61836	0.31601	D	AEFBI	0.121827	0.23667	N	0.110386437295783	0.46945	2.927373	0.104223637928419	0.44765	2.751894	0.272334465486678	0.18905	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	4.33	0.51083	1.079000	0.30378	0.829000	0.21929	0.665000	0.62972	1.000000	0.71638	0.699000	0.26222	0.808000	0.38083	0.0:0.0919:0.0:0.9081	7.827	0.28482	809	0.43032	Thioredoxin domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.000000	0.005435	0.023392	0.000000	0.017241	0.006098	0.003788	0.02632	1683.33	33	chr16	20384735	.	T	C	1683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.122;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.36;ReadPosRankSum=0.249;SOR=0.651	GT:AD:DP:GQ:PL	0/1:59,67:126:99:1697,0,1477	18	0	1	0
chr16	21647421	21647421	C	T	exonic	IGSF6	.	nonsynonymous SNV	IGSF6:NM_005849:exon2:c.G139A:p.V47I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0237119199993	7.7e-05	0.000399361	2.472e-05	9.615e-05	0	0	0	2.999e-05	0	0	3.23e-05	5	154602	rs116192352	5.267e-05	5.267e-05	6.126e-05	4.4e-05	0.0014	4.277e-05	3.953e-05	0.0007	0.0005	5.974e-05	4.472e-05	0	0	0	0.0014	5.576e-05	3.312e-05	1.159e-05	2.629e-05	2.625e-05	2.572e-05	2.688e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.409e-05	0	0	0	0	0	0	2.941e-05	0	0.0002	0.263	0.22833	T	0.358	0.46406	T	0.555	0.38231	P	0.079	0.28749	B	0.125344	0.18846	N	0.514684	1	0.18612	N	1.555	0.39373	L	-0.72	0.72994	T	-0.8	0.22078	N	0.114	0.10198	-0.9498	0.41006	T	0.188	0.53901	T	10	0.06366488	0.08329	T	0.023712	0.46682	T	0.088	0.25558	.	.	0.390842690916	0.38694	0.2927927115312831	0.29192	0.239394196151	0.26490	0.382340490818	0.22588	T	0.040931	0.25692	T	-0.33083	0.06050	T	-0.476322	0.24840	T	0.0302436426281929	0.02027	T	.	.	.	0.06921055	0.15145	0.073242314	0.15895	0.06921055	0.15145	0.073242314	0.15894	-4.627	0.32509	T	.	.	0.093	0.14385	B	.;.	.;.	0.934830	0.13100	9.605	0.96221511112520208	0.29088	0.05574	0.11474	N	ALL	0.036553	0.04890	N	-0.657395634926551	0.17246	0.8857538	-0.748973614445033	0.15748	0.8297553	0.999999994671159	0.74766	0.581397	0.33459	0	0.518115	0.08659	0	0.565031	0.19037	0	0.714379	0.83352	0	.	.	5.33	1.11	0.19640	0.366000	0.20099	0.877000	0.22363	0.599000	0.40250	0.001000	0.13787	0.040000	0.21562	0.152000	0.20376	0.0:0.641:0.0:0.359	8.697	0.33464	585	0.69300	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1921.33	33	chr16	21647421	.	C	T	1921.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=839;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.898;SOR=0.558	GT:AD:DP:GQ:PL	0/1:117,84:201:99:1935,0,2713	18	0	1	0
chr16	21836291	21836291	A	G	exonic	NPIPB3;NPIPB4;NPIPB5	.	nonsynonymous SNV	NPIPB4:NM_001310148:exon8:c.T2096C:p.L699P,NPIPB4:NM_001384979:exon8:c.T2096C:p.L699P,NPIPB4:NM_001384980:exon8:c.T2096C:p.L699P,NPIPB5:NM_001135865:exon9:c.T1955C:p.L652P,NPIPB4:NM_001384981:exon9:c.T2087C:p.L696P,NPIPB4:NM_001384982:exon9:c.T2039C:p.L680P,NPIPB3:NM_130464:exon10:c.T2081C:p.L694P	.	776	743	3	0	0	3	0.00201478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00638861724567	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1189144625	0.0002	0.0002	0.0002	0.0002	0.0040	0.0002	0.0002	0.0017	0.0012	9.739e-05	0.0005	0.0003	0	0	0.0040	0.0003	0.0004	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.089	0.40426	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.57	0.29342	T	0.39	0.03521	N	0.319	0.35938	-0.8904	0.48899	T	0.115	0.40740	T	5	0.1294097	0.24622	T	0.006389	0.16812	T	0.054	0.15330	0.264	0.20946	0.537125817887	0.53363	5.530172019775315E-4	0.00051	.	.	.	.	.	0.009832	0.08919	T	-0.20962	0.19432	T	-0.538881	0.18406	T	0.0930085758412992	0.11571	T	0.435556	0.11926	T	0.09086041	0.21275	0.17476292	0.39896	0.09086041	0.21274	0.17476292	0.39895	-9.939	0.73546	D	.	.	0.968	0.89054	P	.	.	1.877602	0.23851	16.17	0.97663433524977949	0.35212	0.00148	0.00897	N	AEFI	0.022220	0.01084	N	-0.38779457192018	0.25902	1.409647	-0.662687457006167	0.17897	0.9536865	1.09547697404592E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.165000	0.16380	-1.262000	0.05876	0.189000	0.17846	0.013000	0.18845	0.000000	0.08366	0.013000	0.09966	.	.	.	612	0.66786	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	240.33	35	chr16	21836291	.	A	G	240.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.417;DP=513;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=32.03;MQRankSum=0.625;QD=10.92;ReadPosRankSum=-0.723;SOR=0.693	GT:AD:DP:GQ:PL	0/1:11,11:22:99:254,0,306	18	0	1	0
chr16	23710523	23710523	C	T	exonic	ERN2	.	nonsynonymous SNV	ERN2:NM_001308220:exon3:c.G226A:p.V76I,ERN2:NM_033266:exon3:c.G226A:p.V76I	.	425	1033	61	3	0	67	0.0314112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	.	0.0025	0.00579073	0.0057	0.0004	0.0013	0.0005	0.0009	0.0032	0.0044	0.0271	0.0051681	799	154602	rs150200841	0.0037	0.0037	0.0027	0.0047	0.0285	0.0036	0.0036	0.0275	0.0271	0.0004	0.0022	0.0072	0.0002	0.0011	0.0212	0.0020	0.0044	0.0285	0.0026	0.0026	0.0021	0.0030	0.0257	0.0023	0.0023	0.0220	0.0206	0.0004	0	0.0016	0.0072	0.0004	0.0006	0.0204	0.0026	0.0047	0.0257	0.125	0.27310	T	0.265	0.25514	T	0.902	0.49745	P	0.167	0.35118	B	0.000922	0.41028	D	0.226724	0.959256	0.38117	D	0.935	0.23595	L	0.41	0.57100	T	-0.53	0.16393	N	0.434	0.47301	-0.9834	0.34211	T	0.080	0.31556	T	10	0.008725643	0.00198	T	.	.	.	0.129	0.35316	.	.	0.779331883665	0.77729	0.28674151242258855	0.28587	0.335070030475	0.35518	0.355879753828	0.18784	T	0.060599	0.31430	T	-0.438073	0.01327	T	-0.382441	0.35437	T	0.0125137267359404	0.00207	T	0.748325	0.36895	T	0.059365295	0.12056	0.12874185	0.30967	0.059365295	0.12055	0.12874185	0.30967	-6.648	0.51418	T	.	.	0.095	0.14842	B	.;.	.;.	3.464842	0.48308	22.6	0.989779952778573	0.49680	0.92195	0.55157	D	AEFBI	0.242587	0.36401	N	0.119815519159688	0.47389	2.965184	0.192833246547164	0.49452	3.14833	0.975892739164718	0.29674	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.530356	0.10902	0	.	.	4.91	4.91	0.63897	1.918000	0.39636	4.738000	0.44591	0.599000	0.40250	0.964000	0.33853	1.000000	0.68203	0.694000	0.33958	0.0:1.0:0.0:0.0	15.646	0.76800	588	0.69043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.005051	0.012228	0.038012	0.050000	0.000000	0.027439	0.022727	0.07895	3808.79	38	chr16	23710523	.	C	T	3808.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.881;DP=924;ExcessHet=0.3672;FS=1.394;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.297;SOR=0.806	GT:AD:DP:GQ:PL	0/1:46,55:101:99:1363,0,1032	16	0	3	0
chr16	24939524	24939524	C	T	exonic	ARHGAP17	.	nonsynonymous SNV	ARHGAP17:NM_001006634:exon17:c.G1564A:p.A522T	.	424	1009	86	3	0	92	0.0436019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0042	0.00479233	0.0078	0.0012	0.0039	0.0034	0.0014	0.0048	0.0151	0.0298	0.005388	833	154602	rs145791095	0.0050	0.0051	0.0043	0.0058	0.0296	0.0050	0.0049	0.0260	0.0246	0.0009	0.0049	0.0052	0.0016	0.0007	0.0296	0.0037	0.0066	0.0254	0.0041	0.0041	0.0037	0.0046	0.0220	0.0039	0.0038	0.0186	0.0173	0.0007	0	0.0060	0.0066	0.0021	0.0008	0.0306	0.0048	0.0104	0.0220	0.149	0.24758	T	0.306	0.19972	T	0.112	0.26290	B	0.01	0.14941	B	0.000482	0.43931	D	0.000000	0.984898	0.81001	D	0.835	0.21042	L	1.98	0.21865	T	-1.04	0.27259	N	0.234	0.26354	-1.0936	0.04959	T	0.031	0.13374	T	10	0.0037225187	0.00069	T	.	.	.	0.038	0.09825	.	.	0.322865848456	0.31899	0.30575841589917707	0.30488	0.0463152719668	0.05031	0.466221213341	0.34163	T	0.021479	0.16719	T	-0.577036	0.00201	T	-0.582724	0.14303	T	0.00726477508042566	0.00083	T	0.868913	0.57225	D	0.033290282	0.03517	0.05217492	0.08543	0.033290282	0.03517	0.05217492	0.08542	-3.364	0.14576	T	.	.	0.088	0.11845	B	.	.	2.853543	0.37683	20.6	0.99472172580248386	0.66419	0.80469	0.40098	D	AEFDBCI	0.103871	0.20799	N	-0.230510946799875	0.31887	1.792617	-0.143599984541642	0.33655	1.92746	0.021104402275387	0.13320	0.706548	0.73137	0	0.379588	0.06130	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.0	3.05	0.34272	2.965000	0.48892	4.856000	0.45423	0.599000	0.40250	0.992000	0.37556	1.000000	0.68203	0.839000	0.39591	0.0:0.7263:0.0:0.2737	6.989	0.23922	637	0.64373	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.028254	0.010204	0.027174	0.038012	0.000000	0.025862	0.036810	0.022727	0.07895	5963.79	33	chr16	24939524	.	C	T	5963.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.816;DP=1014;ExcessHet=0.3672;FS=1.135;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=0.456;SOR=0.591	GT:AD:DP:GQ:PL	0/1:83,74:157:99:1871,0,2257	16	0	3	0
chr16	30525595	30525595	T	C	exonic	ZNF768	.	nonsynonymous SNV	ZNF768:NM_024671:exon2:c.A545G:p.E182G	.	426	1048	47	1	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	0.0026	0.00439297	0.0039	0.0038	0.0010	0.0001	0.0002	0.0025	0.0077	0.0150	0.0035316	546	154602	rs61735343	0.0025	0.0025	0.0021	0.0029	0.0150	0.0024	0.0024	0.0144	0.0141	0.0030	0.0010	0.0012	5.038e-05	0.0008	0.0076	0.0017	0.0030	0.0150	0.0029	0.0029	0.0028	0.0030	0.0155	0.0027	0.0026	0.0127	0.0117	0.0037	0	0.0017	0.0012	0	0.0007	0.0102	0.0025	0.0033	0.0155	0.001	0.78490	D	0.199	0.27679	T	0.131	0.27154	B	0.039	0.23607	B	0.000284	0.46274	D	0.000000	0.536829	0.31445	N	0.695	0.17993	N	3.18	0.07711	T	-0.89	0.24026	N	0.186	0.20262	-1.0139	0.25688	T	0.012	0.04558	T	10	0.0043001175	0.00087	T	.	.	.	0.075	0.21907	.	.	0.082315109003	0.07666	0.37202124606213827	0.37116	0.807358794691	0.66551	0.405187904835	0.25790	T	0.007683	0.07071	T	-0.499077	0.00578	T	-0.476692	0.24798	T	0.0276702102265299	0.01641	T	0.630337	0.24523	T	0.20003097	0.41964	0.1916817	0.42640	0.20003097	0.41964	0.1916817	0.42639	-4.114	0.25496	T	.	.	0.089	0.31733	B	.;.	.;.	1.973226	0.25064	16.63	0.99829335475869052	0.91112	0.69092	0.34052	D	AEFDBCI	0.181558	0.30888	N	-0.479766409328176	0.22745	1.216644	-0.309602595949851	0.27787	1.544414	0.999990811413327	0.74766	0.695654	0.57023	0	0.606735	0.50208	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.06	3.94	0.44807	0.000000	0.12910	1.452000	0.26614	0.665000	0.62972	0.005000	0.17040	1.000000	0.68203	0.947000	0.49155	0.0:0.0:0.1678:0.8322	10.160	0.42020	243	0.90483	.;.	.	.	.	.	.	Likely pathogenic	0	0	0	0	1	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	0.004076	0.005848	0.000000	0.000000	0.003049	0.041667	0.02632	958.33	55	chr16	30525595	.	T	C	958.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.07;DP=957;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.95;ReadPosRankSum=-2.158;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,37:74:99:972,0,883	18	0	1	0
chr16	30532743	30532743	-	CAC	exonic	ZNF747	.	nonframeshift insertion	ZNF747:NM_001305018:exon3:c.751_752insGTG:p.T251delinsSA,ZNF747:NM_001305019:exon3:c.748_749insGTG:p.T250delinsSA	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.193e-07	6.84e-07	0	1.458e-06	1.26e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.26e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1366.29	38	chr16	30532743	.	G	GCAC	1366.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=736;ExcessHet=0;FS=1.734;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.01;ReadPosRankSum=-0.824;SOR=0.892	GT:AD:DP:GQ:PL	0/1:54,37:91:99:1380,0,2118	18	0	1	0
chr16	31373316	31373316	G	C	exonic	ITGAX	.	nonsynonymous SNV	ITGAX:NM_000887:exon20:c.G2434C:p.E812Q,ITGAX:NM_001286375:exon20:c.G2434C:p.E812Q	.	417	1104	1	0	0	1	0.000452694	.	.	.	2237766	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.433	0.0279875621715	.	.	.	.	.	.	.	.	.	.	.	.	.	rs979054037	6.842e-06	6.84e-06	6.807e-06	6.877e-06	5.798e-05	3.46e-06	2.52e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	3.597e-06	1.657e-05	5.798e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.982408	0.39888	D	3.275	0.90144	M	-0.06	0.63568	T	-2.89	0.60665	D	0.58	0.60156	0.011	0.82477	D	0.463	0.79218	T	9	0.95557487	0.94918	D	0.027988	0.50729	D	0.433	0.73879	0.94	0.99182	0.786881174064	0.78491	0.9289807371596189	0.92876	0.762172987685	0.64322	0.44530877471	0.31302	T	0.428614	0.77769	T	0.0927574	0.63499	D	-0.00390689	0.70081	D	0.962516009807587	0.66391	D	0.955504	0.83071	D	0.36162755	0.57960	0.3153356	0.57520	0.36162755	0.57960	0.3153356	0.57519	-8.803	0.66420	D	.	.	0.563	0.67331	A	.;.	.;.	4.121162	0.61598	24.4	0.99831998588907034	0.91370	0.97061	0.72463	D	AEFDGBI	0.681630	0.64492	D	0.674118059111293	0.77939	6.771849	0.569764761159644	0.72783	5.864525	0.999995240823172	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.99	4.99	0.65942	6.646000	0.74203	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.0:0.0:1.0:0.0	15.648	0.76828	324	0.86790	Integrin alpha-2;Integrin alpha-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	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1052.33	44	chr16	31373316	.	G	C	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=822;ExcessHet=0;FS=1.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.02;ReadPosRankSum=-1.584;SOR=0.496	GT:AD:DP:GQ:PL	0/1:62,43:105:99:1066,0,1583	18	0	1	0
chr16	46927025	46927025	C	G	exonic	GPT2	.	nonsynonymous SNV	GPT2:NM_001142466:exon11:c.C1169G:p.T390S,GPT2:NM_133443:exon11:c.C1469G:p.T490S	Mental retardation, autosomal recessive 49, Autosomal recessive	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0171040958156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.025	0.56192	D	0.995	0.67487	D	0.935	0.67021	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.065	0.87014	M	2.01	0.21291	T	-3.45	0.67589	D	0.24	0.27077	-0.7711	0.56797	T	0.166	0.50372	T	10	0.5040157	0.61712	D	0.017104	0.38659	T	0.220	0.51569	0.669	0.80703	0.760144220984	0.75795	0.6236540431908666	0.62298	0.859992518265	0.68915	0.484110474586	0.36623	T	0.771679	0.93894	D	0.00569012	0.52438	T	-0.229603	0.51811	T	0.992033183574677	0.82423	D	0.89801	0.64352	D	0.7887797	0.83197	0.756275	0.85596	0.7887797	0.83198	0.756275	0.85597	-9.221	0.69108	D	0.3273400051739428	0.42545	0.158	0.45086	B	.;.	.;.	4.527105	0.71028	25.6	0.99636368114917639	0.76387	0.93126	0.57395	D	AEFDBCI	0.730204	0.67767	D	0.696474183854419	0.79401	7.069865	0.64718812097818	0.78402	6.86893	0.999999999992434	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.94	4.94	0.64645	2.778000	0.47412	7.621000	0.62310	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	18.508	0.90855	632	0.64850	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2040.33	39	chr16	46927025	.	C	G	2040.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.449;DP=734;ExcessHet=0;FS=2.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.74;ReadPosRankSum=0.461;SOR=0.447	GT:AD:DP:GQ:PL	0/1:38,77:115:99:2054,0,941	18	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	.	.	.	.	.	.	.	.	0.1316	1250.38	33	chr16	50669118	.	A	G	1250.38	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.51;DP=1657;ExcessHet=1.3;FS=136.809;InbreedingCoeff=-0.1517;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.48;ReadPosRankSum=0.795;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,19:151:42:0|1:50669118_A_G:42,0,4599:50669118	14	0	5	0
chr16	56362911	56362913	AGG	-	exonic	AMFR	.	stopgain	AMFR:NM_001144:exon14:c.1928_1930del:p.S643del,AMFR:NM_001323511:exon14:c.1643_1645del:p.S548del,AMFR:NM_001323512:exon15:c.2024_2026del:p.S675del	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1278.29	33	chr16	56362910	.	TAGG	T	1278.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=711;ExcessHet=0;FS=6.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.62;ReadPosRankSum=1.08;SOR=1.019	GT:AD:DP:GQ:PL	0/1:29,33:62:99:1292,0,1118	18	0	1	0
chr16	56939293	56939293	C	T	exonic	HERPUD1	.	nonsynonymous SNV	HERPUD1:NM_001010989:exon5:c.C485T:p.T162I,HERPUD1:NM_001272103:exon5:c.C488T:p.T163I,HERPUD1:NM_014685:exon5:c.C488T:p.T163I	.	425	1092	5	0	0	5	0.00228415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.0204419339626	7.7e-05	.	0.0001	0	8.639e-05	0	0	0.0002	0.0011	6.06e-05	0.0001164	18	154602	rs200238021	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0024	0.0020	0.0001	0.0002	0	0	0	0.0036	0.0001	0.0003	5.797e-05	4.598e-05	4.596e-05	2.569e-05	6.722e-05	0.0001	2.108e-05	1.526e-05	2.846e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.349e-05	0	0	0.015	0.52492	D	0.132	0.52389	T	0.514	0.52277	P	0.201	0.47260	B	0.001202	0.39820	N	0.313649	0.999966	0.81001	D	2.255	0.64187	M	1.91	0.33189	T	-2.49	0.56630	N	0.522	0.55193	-1.1515	0.00981	T	0.079	0.31405	T	10	0.2268875	0.39554	T	0.020442	0.43035	T	0.140	0.37593	.	.	0.318133320967	0.31420	0.6159126423962834	0.61523	0.68014917732	0.59968	0.625943183899	0.56569	T	0.296264	0.66890	T	-0.259289	0.12982	T	-0.318078	0.42786	T	0.0994813813626541	0.12300	T	0.90351	0.66162	D	0.090997264	0.21309	0.07861665	0.17625	0.090997264	0.21309	0.07861665	0.17625	-8.916	0.67916	D	.	.	0.173	0.54768	B	.;.;.;.;.	.;.;.;.;.	4.211841	0.63633	24.6	0.9979899038640101	0.88372	0.96345	0.68685	D	AEFDBHCI	0.802802	0.72812	D	0.307529123998473	0.56534	3.818294	0.42373738451639	0.63049	4.530985	1.0	0.98316	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	5.627000	0.67460	7.587000	0.61135	0.549000	0.26987	0.972000	0.34453	0.930000	0.28522	0.986000	0.61781	0.0:1.0:0.0:0.0	19.421	0.94712	830	0.39242	.;.;.;.;.	.	.	.	.	.	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	0.003024	0.005051	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1190.33	33	chr16	56939293	.	C	T	1190.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.383;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-0.971;SOR=0.643	GT:AD:DP:GQ:PL	0/1:37,50:87:99:1204,0,832	18	0	1	0
chr16	57261904	57261904	G	A	exonic	PLLP	.	nonsynonymous SNV	PLLP:NM_015993:exon2:c.C302T:p.P101L	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.0141122693316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1258341353	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.24468	T	0.175	0.29945	T	0.778	0.44187	P	0.479	0.47059	P	0.000019	0.62929	D	0.156920	0.999998	0.81001	D	1.75	0.45442	L	1.7	0.26885	T	-3.18	0.64478	D	0.398	0.43899	-1.1307	0.01749	T	0.074	0.29802	T	10	0.44826815	0.58535	T	0.014112	0.34004	T	0.226	0.52472	0.775	0.90080	0.134007934775	0.12933	0.7713383624967579	0.77083	1.32854930742	0.83599	0.506055951118	0.39671	T	0.069462	0.51318	T	-0.106788	0.35299	T	-0.39117	0.34415	T	0.960485756397247	0.65818	D	0.891311	0.63166	D	0.19256955	0.40932	0.19648759	0.43382	0.19256955	0.40932	0.19648759	0.43381	-5.021	0.37067	T	.	.	0.156	0.48756	B	.;.;.	.;.;.	4.807556	0.78178	26.8	0.94786144948805073	0.25521	0.89975	0.50800	D	AEFBI	0.341150	0.43773	N	0.280330317062332	0.55150	3.679502	0.37094649822938	0.59778	4.158803	0.999981000640221	0.51787	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.563494	0.21769	0	.	.	5.62	5.62	0.85714	3.920000	0.56158	11.719000	0.94784	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.912000	0.44740	0.0:0.0:1.0:0.0	19.244	0.93880	537	0.73184	Marvel domain|Marvel domain;Marvel domain|Marvel domain;Marvel domain|Marvel domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1259.33	34	chr16	57261904	.	G	A	1259.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.002;DP=751;ExcessHet=0;FS=0.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-0.305;SOR=0.56	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1273,0,1383	18	0	1	0
chr16	58543495	58543495	G	-	exonic	CNOT1	.	frameshift deletion	CNOT1:NM_206999:exon31:c.4546delC:p.H1516Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.343e-06	9.577e-06	8.506e-06	1.02e-05	0.0001	5.21e-06	4.02e-06	7.081e-05	5.292e-05	0	0	0	0	0	0	0	5.228e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1440.29	96	chr16	58543494	.	TG	T	1440.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.61;DP=1617;ExcessHet=0;FS=3.624;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.54;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,41:119:99:0|1:58543494_TG_T:1454,0,3116:58543494	18	0	1	0
chr16	58543497	58543498	TT	-	exonic	CNOT1	.	frameshift deletion	CNOT1:NM_206999:exon31:c.4543_4544del:p.N1515Sfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.325e-06	9.577e-06	8.494e-06	1.018e-05	0.0001	5.2e-06	4.01e-06	6.953e-05	5.271e-05	0	0	0	0	0	0	0	5.219e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1455.29	96	chr16	58543496	.	ATT	A	1455.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.78;DP=1619;ExcessHet=0;FS=2.511;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=-0.379;SOR=0.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,42:122:99:0|1:58543494_TG_T:1469,0,3181:58543494	18	0	1	0
chr16	67155405	67155405	C	T	exonic	TRADD	.	nonsynonymous SNV	TRADD:NM_001323552:exon3:c.G401A:p.R134H,TRADD:NM_003789:exon3:c.G401A:p.R134H	.	421	1097	4	0	0	4	0.00181984	.	.	.	3924587	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.00850278959588	.	.	7.937e-05	0	9.575e-05	0	0	3.63e-05	0.0028	0.0002	5.17e-05	8	154602	rs753417792	4.149e-05	4.173e-05	3.58e-05	4.722e-05	0.0007	3.28e-05	2.951e-05	0.0002	0.0002	0	2.238e-05	0	0	0	0.0007	2.519e-05	6.648e-05	0.0003	3.941e-05	3.94e-05	5.137e-05	2.689e-05	0.0002	1.715e-05	1.129e-05	1.972e-05	1.124e-05	0	0	6.54e-05	0	0	0	0	5.879e-05	0	0.0002	0.359	0.11957	T	0.326	0.18789	T	0.011	0.15914	B	0.006	0.12133	B	0.014978	0.28378	N	0.399244	0.972865	0.39588	D	1.26	0.31868	L	.	.	.	-1.14	0.29323	N	0.212	0.23632	-0.9830	0.34305	T	0.149	0.47487	T	9	0.16464946	0.30796	T	0.008503	0.22482	T	0.156	0.40720	0.592	0.72123	0.182106788282	0.17826	0.3824081727453987	0.38155	0.937084714361	0.72070	0.451850563288	0.32197	T	0.150347	0.48978	T	-0.406868	0.02086	T	-0.520493	0.20245	T	0.0645001381635666	0.07857	T	0.822218	0.48193	T	0.18261711	0.39489	0.08297049	0.18977	0.18261711	0.39488	0.08297049	0.18976	-4.998	0.36819	T	.	.	0.084	0.14339	B	.;.	.;.	2.495423	0.32200	18.97	0.95483445206706841	0.27049	0.15518	0.18951	N	ALL	0.266057	0.38305	N	-0.585219525273841	0.19392	1.014596	-0.475037799842557	0.22844	1.242806	1.0	0.98316	0.72623	0.87236	0	0.594344	0.48745	0	0.503968	0.08637	0	0.71	0.69187	0	.	.	5.49	3.56	0.39892	0.762000	0.26168	0.443000	0.18445	-0.202000	0.08738	0.945000	0.32849	0.866000	0.27540	0.217000	0.22379	0.0:0.7601:0.0:0.2399	8.461	0.32089	48	0.97687	TRADD, N-terminal|TRADD, 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	0.000505	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.000000	0.05263	5038.83	33	chr16	67155405	.	C	T	5038.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.85;DP=1039;ExcessHet=0.119;FS=1.766;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-0.821;SOR=0.827	GT:AD:DP:GQ:PL	0/1:135,93:228:99:2282,0,3161	17	0	2	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	.	.	.	.	.	.	.	.	0.09375	189.21	104	chr16	67228398	.	C	G	189.21	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.185;DP=1274;ExcessHet=0.3672;FS=205.476;InbreedingCoeff=-0.1308;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.49;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,19:94:12:0|1:67228398_C_G:12,0,2559:67228398	13	0	3	3
chr16	67293886	67293886	C	T	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon12:c.G1876A:p.D626N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.0238668834355	.	.	8.401e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	.	6.849e-07	6.842e-07	0	1.377e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.007	0.69154	D	0.799	0.44910	P	0.205	0.37080	B	0.000901	0.41128	D	0.107273	0.710258	0.30020	N	0.805	0.20218	L	-0.05	0.63403	T	-0.9	0.24244	N	0.193	0.21188	-0.7220	0.59364	T	0.137	0.45260	T	10	0.19941023	0.35949	T	0.023867	0.46847	T	0.109	0.30843	0.19	0.10039	0.824481828275	0.82282	0.21494374546192774	0.21410	0.272956107409	0.29804	0.441002935171	0.30714	T	0.014901	0.12601	T	-0.174365	0.24579	T	-0.48824	0.23576	T	0.701426923274994	0.40787	D	0.814619	0.46840	T	0.2177227	0.44263	0.15890536	0.37086	0.2177227	0.44263	0.15890536	0.37085	-4.089	0.25128	T	.	.	0.112	0.22098	B	.	.	3.111687	0.41976	21.5	0.99892865249898022	0.96666	0.81865	0.41185	D	AEFBI	0.593767	0.58896	D	0.23160323342647	0.52736	3.445967	0.337127820608552	0.57736	3.940469	0.999931573471592	0.46732	0.553676	0.25195	0	0.588015	0.36545	0	0.59043	0.30614	0	0.567892	0.33627	0	.	.	5.63	4.63	0.57175	2.979000	0.49004	4.846000	0.45329	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1675:0.8324:0.0:0.0	12.430	0.54905	25	0.98345	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4728.83	33	chr16	67293886	.	C	T	4728.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.317;DP=976;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.352;SOR=0.673	GT:AD:DP:GQ:PL	0/1:92,103:195:99:2668,0,2446	17	0	2	0
chr16	69331250	69331250	C	T	exonic	COG8	.	nonsynonymous SNV	COG8:NM_001379261:exon5:c.G1708A:p.E570K	Congenital disorder of glycosylation, type IIh	192	1305	18	7	0	32	0.012112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321486	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs139824417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0056	0.0056	0.0035	0.0077	0.1222	0.0053	0.0051	0.1140	0.1108	0.0005	0	0.0017	0	0.0372	0	0	0.0002	0.0062	0.1222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02941	223.17	14	chr16	69331250	.	C	T	223.17	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.92;DP=232;ExcessHet=0;FS=3.233;InbreedingCoeff=-0.057;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-1.977;SOR=2.303	GT:AD:DP:GQ:PL	0/1:9,7:16:99:236,0,222	16	0	1	2
chr16	69742555	69742555	T	G	exonic	NOB1	.	nonsynonymous SNV	NOB1:NM_014062:exon9:c.A1016C:p.H339P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0237226172153	7.7e-05	0.00159744	0.0010	9.781e-05	8.637e-05	0	0	0	0	0.0069	0.0008409	130	154602	rs148297045	0.0004	0.0004	0.0003	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	2.987e-05	4.472e-05	0	0	0	0	1.079e-05	0.0005	0.0065	0.0002	0.0002	0.0001	0.0003	0.0052	0.0001	0.0001	0.0036	0.0031	2.409e-05	0	0	0	0	0	0	1.471e-05	0	0.0052	0.11	0.29158	T	0.207	0.26969	T	0.988	0.62325	D	0.563	0.49647	P	0.000002	0.62929	D	0.101272	1	0.81001	D	2.56	0.74772	M	1.5	0.31205	T	-3.86	0.72471	D	0.679	0.68603	-1.1079	0.03256	T	0.078	0.31012	T	9	0.012899399	0.00275	T	0.023723	0.46692	T	0.219	0.51417	.	.	0.593458155424	0.59024	0.7379652657604463	0.73741	0.692715444287	0.60680	0.523649275303	0.42139	T	0.177098	0.52727	T	-0.280035	0.10664	T	-0.171441	0.57311	T	0.151412950109655	0.17215	T	0.938506	0.76886	D	0.8599639	0.88082	0.66626334	0.80430	0.8599639	0.88084	0.66626334	0.80431	-13.421	0.91023	D	.	.	0.212	0.44095	B	.	.	4.019867	0.59363	24.1	0.96754434030753178	0.30976	0.95248	0.63988	D	AEFDGBCI	0.865389	0.78446	D	0.243282777007323	0.53307	3.500214	0.227394131746566	0.51374	3.32038	0.999999999999948	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	4.59	4.59	0.56297	5.540000	0.66915	5.030000	0.46819	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:0.0:1.0	14.438	0.66868	74	0.96871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	1745.33	33	chr16	69742555	.	T	G	1745.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.21;DP=768;ExcessHet=0;FS=0.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=0;QD=13.43;ReadPosRankSum=-0.698;SOR=0.779	GT:AD:DP:GQ:PL	0/1:61,69:130:99:1759,0,1410	18	0	1	0
chr16	70270312	70270312	G	A	exonic	AARS1	.	nonsynonymous SNV	AARS1:NM_001605:exon6:c.C700T:p.P234S	.	0	1508	14	0	0	14	0.00462046	.	.	.	213221	Leukoencephalopathy,_hereditary_diffuse,_with_spheroids_2|Trichothiodystrophy_8,_nonphotosensitive|Charcot-Marie-Tooth_disease_axonal_type_2N|Developmental_and_epileptic_encephalopathy,_29|AARS1-related_disorder|not_provided|Charcot-Marie-Tooth_disease_type_2|Inborn_genetic_diseases	MONDO:MONDO:0030634,MedGen:C5562044,OMIM:619661|MONDO:MONDO:0030517,MedGen:C5562057,OMIM:619691|MONDO:MONDO:0013212,MedGen:C2750090,OMIM:613287,Orphanet:228174|MONDO:MONDO:0014593,MedGen:C4225361,OMIM:616339,Orphanet:442835|.|MedGen:C3661900|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.722	0.194417221843	0.0012	0.00199681	0.0018	0.0009	0.0035	0.0001	0	0.0017	0.0077	0.0026	0.0017917	277	154602	rs141840552	0.0016	0.0016	0.0015	0.0017	0.0083	0.0015	0.0015	0.0064	0.0058	0.0006	0.0033	0.0007	2.519e-05	9.36e-05	0.0083	0.0015	0.0019	0.0031	0.0015	0.0015	0.0014	0.0016	0.0048	0.0014	0.0013	0.0039	0.0036	0.0005	0	0.0048	0.0012	0	0	0.0136	0.0015	0.0047	0.0031	0.001	0.78490	D	0.003	0.76473	D	0.999	0.77913	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.17	0.88688	M	-1.81	0.83970	D	-7.55	0.95188	D	0.746	0.74553	0.659	0.92656	D	0.754	0.91634	D	10	0.06569886	0.08904	T	0.194417	0.86361	D	0.722	0.90191	.	.	0.922210218927	0.92142	0.7786730908726052	0.77818	0.55814765762	0.52403	0.683518528938	0.64774	T	0.791345	0.94583	D	-0.0746405	0.40582	T	0.117902	0.78097	D	0.103330244970028	0.12719	T	0.979702	0.93041	D	0.8979881	0.91203	0.9296901	0.97073	0.9360494	0.94846	0.9131859	0.95916	-8.262	0.62842	D	0.5472215306938272	0.61619	0.362	0.57367	A	.	.	4.830553	0.78774	27.0	0.99911775024859228	0.98095	0.97165	0.73072	D	AEFDGBCI	0.925070	0.90406	D	1.01178846863808	0.96096	14.29664	0.966259145137397	0.97861	16.91341	0.999999969601682	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	8.031000	0.89168	9.943000	0.82671	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.790	0.88460	149	0.94096	Alanyl-tRNA synthetase, class IIc, N-terminal|Alanyl-tRNA synthetase, class IIc, core 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	0.007049	0.000000	0.012228	0.011696	0.000000	0.017241	0.000000	0.003788	0.05263	3628.83	37	chr16	70270312	.	G	A	3628.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.55;DP=936;ExcessHet=0.119;FS=2.496;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.737;SOR=0.846	GT:AD:DP:GQ:PL	0/1:80,74:154:99:1841,0,1912	17	0	2	0
chr16	70473146	70473146	G	T	exonic	FCSK	.	nonsynonymous SNV	FCSK:NM_145059:exon15:c.G1570T:p.A524S	.	422	1099	1	0	0	1	0.000454752	.	.	.	1921292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	0.0121327765523	.	0.00199681	0.0020	0	0	0	0	0	0	0.0045	0.0004204	65	154602	rs550917987	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0050	0.0049	3.136e-05	2.727e-05	0	0	2.347e-05	0	5.543e-06	0.0004	0.0055	0.0002	0.0002	8.993e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	4.812e-05	0	0	0	0	0	0	0	0.0005	0.0058	0.834	0.02921	T	0.995	0.04274	T	0.278	0.32022	B	0.057	0.26280	B	0.029261	0.25478	N	0.430306	0.987874	0.24471	N	0.69	0.16971	N	3.35	0.07820	T	0.24	0.04533	N	0.312	0.41853	-0.9797	0.35071	T	0.010	0.03719	T	10	0.004281014	0.00086	T	0.012133	0.30425	T	0.032	0.07718	0.334	0.32167	0.0401082797425	0.02173	0.15923441641509511	0.15844	0.0563879772125	0.06225	0.524007499218	0.42190	T	0.060343	0.38719	T	-0.524545	0.00414	T	-0.524744	0.19815	T	0.0241070273122131	0.01158	T	0.728327	0.46890	T	0.06332186	0.13322	0.06793932	0.14122	0.06983961	0.15334	0.070338145	0.14932	-3.463	0.18832	T	.	.	0.087	0.14751	B	.;.;.	.;.;.	1.498564	0.19264	14.18	0.95300012682249913	0.26618	0.82707	0.41898	D	AEFDBI	0.181037	0.30835	N	-0.536319577025935	0.20914	1.10609	-0.383755223026465	0.25481	1.401557	0.998422893216646	0.36942	0.615465	0.37627	0	0.633656	0.55848	0	0.603688	0.36954	0	0.491896	0.07777	0	.	.	5.84	3.9	0.44240	2.640000	0.46245	5.091000	0.47354	0.672000	0.70159	0.157000	0.23755	1.000000	0.68203	0.777000	0.36790	0.2717:0.0:0.7283:0.0	9.569	0.38581	108	0.95573	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.021739	0.000000	0.031768	0.015244	0.000000	0.035088	0.015823	0.030534	0.02632	519.33	30	chr16	70473146	.	G	T	519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.384;DP=718;ExcessHet=0;FS=2.46;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=2.6;SOR=1.179	GT:AD:DP:GQ:PL	0/1:26,23:49:99:533,0,669	18	0	1	0
chr16	70517728	70517728	C	A	exonic	COG4	.	nonsynonymous SNV	COG4:NM_001195139:exon3:c.G255T:p.Q85H,COG4:NM_015386:exon3:c.G267T:p.Q89H	Congenital disorder of glycosylation, type IIj, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.0190342290504	.	0.000998403	0.0002	9.626e-05	0	0	0	0	0	0.0013	0.0001811	28	154602	rs533751802	9.601e-05	9.577e-05	6.008e-05	0.0001	0.0015	8.263e-05	7.803e-05	0.0013	0.0012	0	0	0	0	0	0	3.608e-06	9.956e-05	0.0015	7.89e-05	7.878e-05	3.859e-05	0.0001	0.0023	4.499e-05	3.514e-05	0.0013	0.0010	2.41e-05	0	0	0	0	0	0	0	0	0.0023	0.178	0.23541	T	0.09	0.69154	T	.	.	.	.	.	.	0.000000	0.84330	N	0.051579	0.999996	0.58761	D	.	.	.	0.88	0.46028	T	-2.16	0.56630	N	0.781	0.77789	-1.0605	0.11632	T	0.084	0.32814	T	10	0.016655445	0.00352	T	0.019034	0.41279	T	0.189	0.46613	.	.	0.227934060464	0.22382	0.4512288899337126	0.45040	0.57016417358	0.53181	0.771545052528	0.77656	T	0.025147	0.22326	T	-0.2797	0.10700	T	-0.220098	0.52729	T	0.156035310304782	0.17574	T	0.90321	0.66162	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	0.54883	B	.;.;.;.	.;.;.;.	3.043664	0.40817	21.2	0.99412022595370042	0.63310	0.96917	0.71647	D	AEFBI	0.604076	0.59531	D	-0.216482988764977	0.32457	1.830669	-0.112772560292664	0.34874	2.011045	0.999941936163308	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	3.35	0.37468	3.229000	0.50979	2.066000	0.30419	0.594000	0.32500	1.000000	0.71638	0.986000	0.30841	0.937000	0.47636	0.0:0.8537:0.0:0.1463	11.457	0.49432	103	0.95740	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1497.33	40	chr16	70517728	.	C	A	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.066;DP=804;ExcessHet=0;FS=0.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=0.303;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,39:74:99:0|1:70517728_C_A:1511,0,1326:70517728	18	0	1	0
chr16	70517729	70517729	T	G	exonic	COG4	.	nonsynonymous SNV	COG4:NM_001195139:exon3:c.A254C:p.Q85P,COG4:NM_015386:exon3:c.A266C:p.Q89P	Congenital disorder of glycosylation, type IIj, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.415	0.025439733624	.	0.000998403	0.0002	9.628e-05	0	0	0	0	0	0.0013	0.0001811	28	154602	rs552930113	9.606e-05	9.577e-05	6.01e-05	0.0001	0.0015	8.267e-05	7.806e-05	0.0013	0.0012	0	0	0	0	0	0	3.61e-06	9.959e-05	0.0015	7.884e-05	7.876e-05	3.857e-05	0.0001	0.0023	4.496e-05	3.512e-05	0.0013	0.0010	2.408e-05	0	0	0	0	0	0	0	0	0.0023	0.19	0.30800	T	0.204	0.65728	T	.	.	.	.	.	.	0.000000	0.84330	D	0.051579	1	0.81001	D	.	.	.	1.0	0.41392	T	-3.18	0.69950	D	0.853	0.87481	-0.8492	0.52024	T	0.174	0.51801	T	10	0.034134626	0.01611	T	0.02544	0.48409	D	0.415	0.72555	.	.	0.445910236696	0.44209	0.7530832726466796	0.75255	0.634946160305	0.57331	0.751070916653	0.74604	T	0.065831	0.34374	T	-0.052812	0.44020	T	0.105811	0.77294	D	0.287734461630005	0.24495	T	0.949505	0.80559	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.698	0.72861	P	.;.;.;.	.;.;.;.	3.871435	0.56212	23.7	0.99763366681018728	0.85254	0.98796	0.86965	D	AEFBI	0.963031	0.98481	D	0.486326978769228	0.66292	4.931217	0.476514666140476	0.66438	4.951964	0.999999999290744	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	7.750000	0.84000	7.773000	0.68509	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.945000	0.48827	0.0:0.0:0.0:1.0	15.323	0.73851	103	0.95740	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1497.33	40	chr16	70517729	.	T	G	1497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.094;DP=804;ExcessHet=0;FS=0.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=20.23;ReadPosRankSum=0.414;SOR=0.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,39:74:99:0|1:70517728_C_A:1511,0,1326:70517728	18	0	1	0
chr16	70920883	70920883	C	T	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon46:c.G7493A:p.R2498H	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0209131462519	.	.	1.364e-05	0	0	0	0	2.52e-05	0	0	3.84e-05	1	26028	rs746731066	1.853e-05	2.121e-05	1.774e-05	1.932e-05	0.0002	1.269e-05	1.088e-05	1.38e-05	1.153e-05	0	2.292e-05	0	0	0	0.0002	2.073e-05	1.661e-05	1.166e-05	3.284e-05	3.283e-05	6.421e-05	0	6.54e-05	1.261e-05	7.98e-06	1.972e-05	1.124e-05	0	0	6.54e-05	0	0	0	0	5.879e-05	0	0	0.068	0.35726	T	.	.	.	.	.	.	.	.	.	0.330683	0.14119	U	0.515025	0.891802	0.27868	N	2.44	0.70756	M	5.5	0.00921	T	-1.51	0.36787	N	0.325	0.36569	-0.6514	0.62653	T	0.009	0.03011	T	10	0.2512455	0.42462	T	0.020913	0.43593	T	0.131	0.35738	0.188	0.09776	0.243972157842	0.24002	0.21263850183483887	0.21179	.	.	0.447768419981	0.31640	T	0.087519	0.37960	T	-0.118439	0.33378	T	-0.407906	0.32467	T	0.932056665420532	0.59784	D	.	.	.	0.085915715	0.19950	0.10762927	0.25912	0.085915715	0.19950	0.10762927	0.25912	-3.584	0.17625	T	.	.	0.111	0.21503	B	.	.	3.707702	0.52916	23.3	0.99929141118224163	0.99279	0.75337	0.36882	D	AEFDBI	0.162065	0.28820	N	0.456623879849573	0.64579	4.715752	0.449958396936552	0.64715	4.733033	0.999999259134324	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.89	4.93	0.64394	1.795000	0.38418	5.946000	0.51564	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.211000	0.22211	0.0:0.8636:0.0:0.1364	11.355	0.48848	542	0.72843	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	781.33	34	chr16	70920883	.	C	T	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.397;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.2;MQRankSum=0.733;QD=13.47;ReadPosRankSum=-1.775;SOR=0.826	GT:AD:DP:GQ:PL	0/1:28,30:58:99:795,0,695	18	0	1	0
chr16	71934063	71934063	G	T	exonic	PKD1L3	.	nonsynonymous SNV	PKD1L3:NM_181536:exon27:c.C4676A:p.P1559Q	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0011	0.0005	0	0	0	0	0	0.0029	0.0002005	31	154602	rs561079933	0.0001	0.0001	7.895e-05	0.0002	0.0023	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	9.268e-07	0.0002	0.0023	0.0001	0.0001	5.14e-05	0.0002	0.0031	6.509e-05	5.321e-05	0.0019	0.0015	2.407e-05	0	0	0	0	0	0	0	0	0.0031	.	.	.	0.004	0.74150	D	0.029	0.19866	B	0.003	0.08700	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.246	0.27792	.	.	.	.	.	.	.	0.008485287	0.00192	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.6426060024689262	0.64195	.	.	0.409530460835	0.26392	T	0.034281	0.23258	T	-0.207782	0.19694	T	-0.0764787	0.65161	T	.	.	.	0.323768	0.06600	T	0.064872816	0.13809	0.3052457	0.56552	0.064872816	0.13808	0.3052457	0.56551	-0.879	0.00875	T	.	.	0.211	0.43869	B	.	.	2.245512	0.28682	17.88	0.53283887001565577	0.04909	0.72780	0.35613	D	ALL	.	.	.	.	.	.	.	.	.	0.999999999848144	0.74766	0.067858	0.01461	0	0.047999	0.00093	0	0.067997	0.01918	2	0.087121	0.02386	0	0.804487	0.47674	5.43	5.43	0.79006	4.581000	0.60661	3.986000	0.40947	-0.040000	0.17491	1.000000	0.71638	0.997000	0.33255	0.052000	0.15357	0.9161:0.0:0.0839:0.0	9.243	0.36670	77	0.96778	Polycystin cation channel, PKD1/PKD2	.	.	.	.	.	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	0.002404	0.000000	0.000000	0.000000	0.000000	0.000000	0.005814	0.012195	0.02632	1101.33	45	chr16	71934063	.	G	T	1101.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.33;DP=787;ExcessHet=0;FS=0.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.003;SOR=0.813	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1115,0,1497	18	0	1	0
chr16	74678936	74678936	C	A	exonic	MLKL	.	nonsynonymous SNV	MLKL:NM_152649:exon7:c.G1001T:p.S334I	.	436	1083	3	0	0	3	0.00138313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.769	0.0635231073118	.	0.00159744	0.0008	0	0	0	0.0002	0	0	0.0059	0.0006921	107	154602	rs535912872	0.0004	0.0004	0.0002	0.0006	0.0066	0.0004	0.0004	0.0062	0.0060	2.987e-05	0	0	0	0	0	1.799e-06	0.0004	0.0066	0.0003	0.0003	6.423e-05	0.0006	0.0091	0.0002	0.0002	0.0070	0.0062	4.81e-05	0	0	0	0	0	0	0	0	0.0091	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	0.981682	0.81001	D	3.33	0.90841	M	-3.32	0.93882	D	-5.6	0.86608	D	0.713	0.71587	1.086	0.99071	D	0.930	0.97699	D	10	0.035286605	0.01770	T	0.063523	0.68994	D	0.769	0.92212	0.793	0.91438	0.952830683834	0.95233	0.6787404119516826	0.67813	0.155226760159	0.17521	0.61340045929	0.54797	T	0.478807	0.80848	T	0.00878688	0.52859	T	0.242596	0.85271	D	0.283517887252081	0.24319	T	0.530047	0.17581	T	0.8675488	0.88668	0.70776683	0.82767	0.8675488	0.88670	0.70776683	0.82768	-11.237	0.80942	D	.	.	0.781	0.76403	P	.	.	3.683923	0.52454	23.2	0.99463751777373233	0.65944	0.89819	0.50534	D	AEFDBI	0.250846	0.37082	N	0.760122544552012	0.83563	8.050161	0.601555362022738	0.75052	6.242918	0.999975379439387	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	3.878000	0.55843	4.788000	0.44881	0.580000	0.29708	0.995000	0.38783	1.000000	0.68203	0.006000	0.07323	0.0:1.0:0.0:0.0	14.595	0.67996	555	0.71762	Serine-threonine/tyrosine-protein kinase, catalytic 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1067.33	35	chr16	74678936	.	C	A	1067.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.504;DP=763;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.285;SOR=0.744	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1081,0,1600	18	0	1	0
chr16	77735485	77735485	C	T	exonic	NUDT7	.	nonsynonymous SNV	NUDT7:NM_001243660:exon3:c.C281T:p.A94V	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	.	0.0016	0	0	7.76e-05	12	154602	rs570753811	0.0006	0.0006	0.0008	0.0005	0.0007	0.0006	0.0006	0.0006	0.0006	0.0001	0	0	0	0.0030	0	0.0007	0.0004	0	0.0005	0.0005	0.0004	0.0006	0.0006	0.0005	0.0004	0.0005	0.0004	0.0003	0	0	0	0	0.0026	0	0.0006	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.211	0.23506	.	.	.	.	.	.	.	0.008520663	0.00193	T	.	.	.	.	.	.	.	0.260735089382	0.25697	.	.	.	.	.	.	.	0.049374	0.28290	T	-0.412723	0.01907	T	-0.46071	0.26521	T	.	.	.	0.50475	0.15921	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.09723	B	.	.	0.041143	0.04573	1.254	0.8035547260192456	0.13164	0.00227	0.01275	N	AEFBI	.	.	.	.	.	.	.	.	.	0.653267836753631	0.22187	0.074636	0.01641	0	0.060609	0.00678	0	0.078618	0.02440	0	0.057018	0.00518	0	0.0844166	0.19275	0.235	0.235	0.14697	-0.642000	0.05524	-3.615000	0.02656	-0.569000	0.04791	0.043000	0.21118	0.000000	0.08366	0.014000	0.10232	.	.	.	960	0.08626	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	183.33	20	chr16	77735485	.	C	T	183.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.782;DP=530;ExcessHet=0;FS=1.83;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.466;SOR=1.179	GT:AD:DP:GQ:PL	0/1:12,7:19:99:197,0,310	18	0	1	0
chr16	83965451	83965451	C	T	exonic	OSGIN1	.	nonsynonymous SNV	OSGIN1:NM_182981:exon6:c.C878T:p.A293V	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.474	0.160936946232	7.8e-05	.	1.863e-05	0	0	0.0001	0	1.669e-05	0	0	1.94e-05	3	154602	rs141102431	1.66e-05	1.779e-05	1.789e-05	1.53e-05	5.988e-05	1.123e-05	9.44e-06	1.599e-05	9.41e-06	5.988e-05	0	0	2.522e-05	2.264e-05	0	1.354e-05	1.667e-05	4.709e-05	3.944e-05	3.94e-05	3.854e-05	4.037e-05	5.88e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	4.828e-05	0	0	0	0	0	0	5.88e-05	0	0	0.003	0.68238	D	0.004	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.935	0.84639	M	1.8	0.25344	T	-3.58	0.69118	D	0.932	0.94550	-0.5517	0.66723	T	0.213	0.57334	T	10	0.90335983	0.89700	D	0.160937	0.84083	D	0.474	0.76685	.	.	0.679483544269	0.67676	0.6540736386237636	0.65343	0.483642600612	0.47309	0.709985613823	0.68591	T	0.232638	0.59924	T	0.121729	0.66545	D	0.109537	0.77543	D	0.882469892501831	0.53258	D	0.933407	0.75038	D	0.59423184	0.72379	0.41984698	0.65966	0.59423184	0.72380	0.41984698	0.65966	.	.	.	.	.	0.656	0.72014	P	.;.;.	.;.;.	4.657839	0.74315	26.1	0.99914626505990689	0.98309	0.95988	0.67028	D	AEFDBHCI	0.833220	0.75147	D	0.551118788951244	0.70152	5.459488	0.397365253664242	0.61403	4.339844	0.999999999998665	0.74766	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.8	4.8	0.61157	5.919000	0.69736	7.652000	0.63756	0.528000	0.24546	1.000000	0.71638	1.000000	0.68203	0.271000	0.23793	0.0:1.0:0.0:0.0	16.841	0.85833	923	0.18507	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2576.33	39	chr16	83965451	.	C	T	2576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.244;DP=1061;ExcessHet=0;FS=4.078;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-1.784;SOR=0.465	GT:AD:DP:GQ:PL	0/1:103,95:198:99:2590,0,2725	18	0	1	0
chr16	84222522	84222522	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon3:c.G1255A:p.V419M	.	428	1062	29	3	0	35	0.0162112	.	.	.	703853	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.946	.	0.0051	0.00479233	0.0074	0.0010	0.0023	0.0002	0.0083	0.0083	0.0169	0.0144	0.0070568	1091	154602	rs140124801	0.0069	0.0069	0.0066	0.0072	0.0127	0.0068	0.0067	0.0121	0.0118	0.0010	0.0026	0.0078	0.0001	0.0078	0.0125	0.0069	0.0071	0.0127	0.0052	0.0052	0.0052	0.0053	0.0128	0.0049	0.0048	0.0103	0.0093	0.0011	0.0011	0.0020	0.0092	0.0002	0.0070	0.0170	0.0079	0.0043	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.105	0.97342	H	-4.82	0.98198	D	-2.82	0.59545	D	0.909	0.91047	0.900	0.95677	D	0.967	0.98951	D	10	0.025790572	0.00762	T	.	.	.	0.946	0.98921	.	.	0.969889004412	0.96956	0.9388897814049336	0.93869	0.30393034706	0.32714	0.793081045151	0.80911	T	0.699471	0.91333	D	0.227836	0.76518	D	0.565525	0.96017	D	0.0628093518879256	0.07604	T	0.942106	0.78341	D	0.86216265	0.88251	0.74613094	0.84994	0.86216265	0.88253	0.74613094	0.84995	-13.769	0.92282	D	.	.	0.844	0.79447	P	.	.	5.302990	0.89027	29.8	0.99916515854583565	0.98449	0.97854	0.77628	D	AEFBI	0.898918	0.84272	D	1.03012714988463	0.96598	14.89462	0.953646783385209	0.97512	16.25638	0.999999999832179	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.61	5.61	0.85347	7.905000	0.86479	7.711000	0.66806	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	18.627	0.91299	804	0.43891	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	0.011581	0.005051	0.012228	0.005848	0.000000	0.008621	0.009146	0.022727	0.02632	1622.33	36	chr16	84222522	.	C	T	1622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.808;DP=1018;ExcessHet=0;FS=1.529;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.36;ReadPosRankSum=-0.226;SOR=0.898	GT:AD:DP:GQ:PL	0/1:49,64:113:99:1636,0,1296	18	0	1	0
chr16	84223017	84223017	C	T	exonic	KCNG4	.	nonsynonymous SNV	KCNG4:NM_172347:exon3:c.G760A:p.E254K	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.548	0.090262849897	.	0.000199681	2.941e-05	0	9.546e-05	0	0	0	0.0014	0.0001	3.23e-05	5	154602	rs188199687	2.412e-05	2.463e-05	1.718e-05	3.136e-05	9.871e-05	1.721e-05	1.514e-05	4.592e-05	3.228e-05	3.291e-05	0	0	0	0	0	2.252e-05	1.777e-05	9.871e-05	3.94e-05	3.937e-05	3.854e-05	4.029e-05	6.534e-05	1.714e-05	1.129e-05	1.972e-05	1.124e-05	2.406e-05	0	6.534e-05	0	0	0	0	5.88e-05	0	0	0.059	0.37536	T	0.082	0.41573	T	0.223	0.30377	B	0.072	0.28043	B	0.000005	0.62929	D	0.104658	0.91116	0.36415	D	2.57	0.75187	M	-4.08	0.96594	D	-2.47	0.53898	N	0.588	0.60833	0.688	0.93024	D	0.842	0.94708	D	10	0.32924557	0.50181	T	0.090263	0.75484	D	0.548	0.81252	.	.	0.896469985577	0.89544	0.7124350485716779	0.71185	0.312512805789	0.33555	0.494578242302	0.38074	T	0.400436	0.75801	T	0.0172053	0.54004	T	0.0236063	0.71863	D	0.635616064071655	0.37852	D	0.862114	0.55677	D	0.12408301	0.29122	0.16595384	0.38364	0.12408301	0.29121	0.16595384	0.38364	-9.476	0.70710	D	.	.	0.076	0.06069	B	.	.	2.360562	0.30275	18.39	0.99412265684461065	0.63358	0.94424	0.61121	D	AEFBI	0.480353	0.52211	N	-0.17910122323484	0.34006	1.935848	-0.114693916074513	0.34798	2.005713	0.225491534813955	0.18405	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	4.56	0.55644	5.047000	0.64042	3.305000	0.37415	-0.175000	0.10903	1.000000	0.71638	0.998000	0.33993	0.212000	0.22240	0.0:0.8623:0.1377:0.0	15.63	0.76651	804	0.43891	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1449.33	37	chr16	84223017	.	C	T	1449.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.58;ReadPosRankSum=-0.467;SOR=0.619	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1463,0,1000	18	0	1	0
chr16	84425752	84425752	G	A	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon8:c.G484A:p.G162S,ATP2C2:NM_001286527:exon11:c.G937A:p.G313S,ATP2C2:NM_014861:exon11:c.G937A:p.G313S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.711	0.0899048384935	.	0.000399361	0.0008	0	8.639e-05	0.0001	0	0	0	0.0058	0.0006404	99	154602	rs531589939	0.0004	0.0004	0.0002	0.0006	0.0059	0.0003	0.0003	0.0055	0.0053	0	0	0	5.038e-05	0	0	0	0.0003	0.0059	0.0002	0.0002	0.0001	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0.0009	0.0054	0.001	0.78490	D	0.003	0.76473	D	0.988	0.62325	D	0.989	0.78396	D	0.011755	0.29415	N	0.292022	0.999997	0.58761	D	2.435	0.70606	M	-2.66	0.90272	D	-5.51	0.85921	D	0.874	0.87157	0.913	0.95859	D	0.859	0.95298	D	10	0.097646385	0.17601	T	0.089905	0.75417	D	0.711	0.89696	0.776	0.90157	0.868265480663	0.86698	0.8590245568667019	0.85865	.	.	0.598532497883	0.52697	T	0.507871	0.82541	D	-0.110999	0.34604	T	0.0698387	0.74900	D	0.178841531437718	0.19162	T	0.993776	0.97952	D	0.1921022	0.40866	0.40046996	0.64583	0.1921022	0.40866	0.40046996	0.64583	-8.794	0.66361	D	0.3231602281775327	0.42130	0.311	0.53846	B	.;.	.;.	4.565215	0.71974	25.8	0.99832402674457876	0.91370	0.98699	0.85733	D	AEFGBI	0.908754	0.86448	D	0.718815066695593	0.80866	7.390174	0.613353973188388	0.75909	6.394712	0.999999949514374	0.74766	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	8.562000	0.90514	11.779000	0.96061	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.672000	0.33309	0.0:0.0:1.0:0.0	16.839	0.85829	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1406.33	33	chr16	84425752	.	G	A	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.971;DP=781;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=-0.016;SOR=0.671	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1420,0,1833	18	0	1	0
chr16	84425768	84425768	A	G	exonic	ATP2C2	.	nonsynonymous SNV	ATP2C2:NM_001291454:exon8:c.A500G:p.K167R,ATP2C2:NM_001286527:exon11:c.A953G:p.K318R,ATP2C2:NM_014861:exon11:c.A953G:p.K318R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.0630170355624	.	0.000399361	0.0008	0	8.639e-05	0.0001	0	0	0	0.0058	0.0006404	99	154602	rs551531561	0.0004	0.0004	0.0002	0.0006	0.0059	0.0003	0.0003	0.0055	0.0053	0	0	0	5.038e-05	0	0	0	0.0003	0.0059	0.0002	0.0002	8.999e-05	0.0003	0.0054	0.0001	0.0001	0.0038	0.0032	0	0	0	0	0	0	0	0	0	0.0054	0.791	0.03382	T	1.0	0.01155	T	0.109	0.26142	B	0.371	0.43568	B	0.000002	0.62929	D	0.000000	0.999141	0.46174	D	-0.365	0.03101	N	-2.66	0.90272	D	-0.49	0.15578	N	0.579	0.60071	-0.2288	0.76919	T	0.488	0.80520	T	10	0.009766042	0.00220	T	0.063017	0.68834	D	0.502	0.78475	0.473	0.54859	0.51093147181	0.50733	0.7355369503983589	0.73498	.	.	0.437695026398	0.30262	T	0.123198	0.44739	T	-0.23696	0.15739	T	-0.111096	0.62524	T	0.14273435396988	0.16508	T	0.976502	0.91949	D	0.26563317	0.49632	0.27083743	0.52978	0.26563317	0.49632	0.27083743	0.52977	-7.413	0.56996	T	0.06311391715249844	0.01917	0.073	0.05845	B	.;.	.;.	3.127065	0.42236	21.5	0.26137692157526404	0.01238	0.97735	0.76755	D	AEFGBI	0.701263	0.65801	D	-0.420230227703193	0.24761	1.339275	-0.261575301828534	0.29376	1.645253	0.999989265935623	0.51787	0.623552	0.39893	0	0.59043	0.45803	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	5.0	5.0	0.66209	6.248000	0.72374	8.036000	0.76294	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.197000	0.21808	1.0:0.0:0.0:0.0	13.509	0.60956	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1433.33	33	chr16	84425768	.	A	G	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.083;DP=781;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=-0.114;SOR=0.609	GT:AD:DP:GQ:PL	0/1:72,60:132:99:1447,0,1849	18	0	1	0
chr16	85655727	85655727	A	T	exonic	GSE1	.	nonsynonymous SNV	GSE1:NM_001134473:exon5:c.A487T:p.M163L,GSE1:NM_001278184:exon5:c.A580T:p.M194L,GSE1:NM_014615:exon6:c.A799T:p.M267L	.	381	1127	14	0	0	14	0.00617284	0.0007	0	.	703863	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0028	0.00279553	0.0032	0.0027	0.0015	0.0002	0.0008	0.0034	0.0025	0.0080	0.0031047	480	154602	rs151194801	0.0029	0.0029	0.0026	0.0031	0.0081	0.0028	0.0028	0.0076	0.0074	0.0026	0.0022	0.0040	5.049e-05	0.0008	0.0058	0.0027	0.0033	0.0081	0.0026	0.0026	0.0026	0.0027	0.0087	0.0024	0.0023	0.0066	0.0059	0.0024	0	0.0013	0.0032	0.0002	0.0010	0	0.0031	0.0019	0.0087	0.144	0.25255	T	0.317	0.29540	T	0.006	0.15535	B	0.001	0.08700	B	0.000000	0.84330	D	0.115413	0.998768	0.45406	D	1.81	0.47622	L	1.47	0.31987	T	-1.07	0.43334	N	0.698	0.70263	-1.0834	0.06702	T	0.050	0.21378	T	10	0.0076492727	0.00174	T	.	.	.	0.193	0.47281	0.113	0.02240	0.216624796971	0.21254	0.578017275652566	0.57730	.	.	0.802392959595	0.82329	T	0.101135	0.40759	T	-0.325232	0.06478	T	-0.235384	0.51248	T	0.0131205379348841	0.00231	T	0.793221	0.43505	T	0.2871086	0.51723	0.16584592	0.38345	0.2871086	0.51723	0.16584592	0.38344	-6.546	0.50640	T	.	.	0.253	0.48797	B	.;.;.;.	.;.;.;.	3.270610	0.44771	22.0	0.81696290854396003	0.13814	0.95259	0.64030	D	AEFBCI	0.626681	0.60941	D	-0.342235722194514	0.27558	1.512964	-0.209525126502462	0.31191	1.76304	0.997746312825063	0.35977	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.655142	0.61905	0	.	.	4.79	2.15	0.26590	4.952000	0.63320	5.942000	0.51497	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.769000	0.36481	0.8281:0.0:0.1719:0.0	9.670	0.39171	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	0	0	1	0	0.005539	0.000000	0.002725	0.002941	0.000000	0.000000	0.015244	0.007576	0.02632	968.33	36	chr16	85655727	.	A	T	968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.41;DP=670;ExcessHet=0;FS=1.18;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.61;ReadPosRankSum=-0.593;SOR=0.527	GT:AD:DP:GQ:PL	0/1:22,33:55:99:982,0,595	18	0	1	0
chr16	88428339	88428339	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C869T:p.A290V	Brittle cornea syndrome 1, Autosomal recessive	0	1519	2	1	0	4	0.00131492	.	.	.	326644	not_provided|not_specified|Brittle_cornea_syndrome_1|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.054	.	.	0.0103834	0.0035	0	0	0.0823	0	0	0.0183	0.0023	0.0010673	165	154602	rs117501524	0.0012	0.0012	0.0012	0.0012	0.0353	0.0012	0.0012	0.0337	0.0330	9.494e-05	0.0001	0	0.0353	0	0.0002	2.503e-05	0.0044	0.0021	0.0020	0.0020	0.0016	0.0023	0.0523	0.0018	0.0017	0.0471	0.0452	4.811e-05	0	0.0003	0	0.0523	0	0	1.47e-05	0.0033	0.0035	0.314	0.13834	T	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.41	0.05574	T	-0.15	0.09297	N	0.041	0.02179	-0.9283	0.44386	T	0.003	0.00929	T	9	0.0018436611	0.00025	T	.	.	.	0.054	0.15330	.	.	0.12205267543	0.11705	0.06156912454752168	0.06096	.	.	0.43697682023	0.30164	T	0.005941	0.05383	T	-0.782362	0.00011	T	-0.857108	0.00875	T	0.00466004811416475	0.00050	T	0.458554	0.13215	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.14339	B	.;.	.;.	0.669409	0.10379	7.104	0.76044740843592262	0.11311	0.02632	0.07225	N	AEFDBI	0.036941	0.05002	N	-1.28059393818816	0.03909	0.1754991	-1.3851512033486	0.03409	0.1589767	0.57437596806761	0.21519	0.580535	0.33130	0	0.593476	0.48661	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.4	-6.8	0.01548	0.199000	0.17037	-0.406000	0.09378	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.3572:0.1189:0.2639:0.2599	0.609	0.00708	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001220	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2822.33	34	chr16	88428339	.	C	T	2822.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.864;DP=924;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=-0.789;SOR=0.699	GT:AD:DP:GQ:PL	0/1:99,112:211:99:2836,0,2280	18	0	1	0
chr16	88733964	88733964	-	TCC	exonic	PIEZO1	.	nonframeshift insertion	PIEZO1:NM_001142864:exon17:c.2270_2271insGGA:p.E756_D757insE	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	0	218	7	0	1	8	0.0158014	.	.	.	1196173	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0109	0.0108	0.0111	0	0	0.0082	0	0.0150	0.0010758	28	26028	rs770832408	0.0059	0.0058	0.0057	0.0062	0.0200	0.0058	0.0058	0.0170	0.0159	0.0154	0.0063	0.0069	0.0007	0.0040	0.0200	0.0052	0.0076	0.0126	0.0086	0.0087	0.0085	0.0088	0.0152	0.0082	0.0081	0.0142	0.0138	0.0152	0.0088	0.0120	0.0093	0.0006	0.0028	0.0170	0.0054	0.0105	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	4365.75	33	chr16	88733964	.	G	GTCC	4365.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.839;DP=994;ExcessHet=0.3672;FS=1.515;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.39;ReadPosRankSum=0.446;SOR=0.747	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1508,0,1489	16	0	3	0
chr16	88807344	88807344	C	T	exonic	CDT1	.	nonsynonymous SNV	CDT1:NM_030928:exon9:c.C1339T:p.R447W	Meier-Gorlin syndrome 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1440295	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.548	0.292244930374	.	.	8.64e-06	0	0	0	0	0	0	6.089e-05	6.5e-06	1	154602	rs755342796	1.644e-05	1.71e-05	1.363e-05	1.927e-05	0.0002	1.112e-05	9.34e-06	1.78e-05	8.93e-06	2.987e-05	6.711e-05	0	0	0	0.0002	1.079e-05	6.63e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.71	0.79292	M	-1.37	0.80214	T	-5.51	0.85921	D	0.832	0.82761	-0.0632	0.80925	T	0.579	0.84845	D	10	0.8133297	0.80596	D	0.292245	0.90603	D	0.548	0.81252	0.444	0.50139	0.949879362571	0.94935	0.6684866924847856	0.66786	0.0842060663455	0.09501	0.562923550606	0.47680	T	0.626046	0.88347	D	0.195788	0.73499	D	0.226851	0.84516	D	0.977772772312164	0.72004	D	0.879912	0.59649	D	0.6194573	0.73734	0.5439738	0.73641	0.6194573	0.73736	0.5439738	0.73641	-10.316	0.75782	D	0.7089692859338729	0.78892	0.131	0.28203	B	.	.	3.954684	0.57957	23.9	0.9943096766889401	0.64276	0.98375	0.82137	D	AEFDBHCI	0.652401	0.62581	D	-0.211324731976896	0.32668	1.844876	-0.398672181458589	0.25037	1.374507	0.999999224480314	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.636168	0.56350	0	.	.	5.58	0.177	0.14338	3.647000	0.54144	2.507000	0.33056	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.756000	0.36000	0.2182:0.5357:0.0:0.2461	5.439	0.15796	824	0.40336	DNA replication factor Cdt1, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	666.33	33	chr16	88807344	.	C	T	666.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.513;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-0.345;SOR=0.646	GT:AD:DP:GQ:PL	0/1:39,30:69:99:680,0,897	18	0	1	0
chr16	89746685	89746685	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon35:c.C3412G:p.L1138V,FANCA:NM_001286167:exon35:c.C3412G:p.L1138V	Fanconi anemia, complementation group A, Autosomal recessive	0	1499	23	0	0	23	0.00761337	.	.	YES	138004	not_specified|Fanconi_anemia_complementation_group_A|Fanconi_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.435	0.0864465144465	0.0003	0.00179712	0.0015	0.0006	0.0008	0	0	0.0003	0.0056	0.0089	0.001326	205	154602	rs138417003	0.0008	0.0008	0.0005	0.0011	0.0105	0.0008	0.0008	0.0100	0.0097	0.0006	0.0007	0	2.519e-05	1.874e-05	0.0078	0.0001	0.0010	0.0105	0.0007	0.0007	0.0004	0.0010	0.0106	0.0006	0.0005	0.0083	0.0074	0.0007	0	0.0003	0	0	0	0.0034	0.0002	0.0009	0.0106	0.185	0.22833	T	0.208	0.27943	T	0.911	0.50336	P	0.293	0.40773	B	0.000082	0.51296	D	0.000000	0.917715	0.36587	D	1.795	0.47270	L	-2.07	0.86010	D	-1.66	0.39692	N	0.262	0.29659	0.454	0.89900	D	0.696	0.89514	D	10	0.011628985	0.00253	T	0.086447	0.74739	D	0.435	0.74022	.	.	0.885146591904	0.88401	0.3403457598282565	0.33947	.	.	0.380156219006	0.22279	T	0.203767	0.56233	T	-0.157841	0.27092	T	0.00746071	0.70819	D	0.0427076806060103	0.04183	T	0.825817	0.52087	T	0.10365021	0.24501	0.110330895	0.26602	0.09620536	0.22656	0.12098502	0.29192	-4.12	0.25584	T	0.4952418725555626	0.57140	0.145	0.32420	B	.;.	.;.	2.563202	0.33199	19.27	0.91055926982107338	0.20308	0.90119	0.51049	D	AEFGBCI	0.237627	0.35988	N	0.245120952388785	0.53399	3.508808	0.205450259431287	0.50149	3.210049	0.998533127528051	0.37148	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.39	5.39	0.77615	3.067000	0.49706	7.383000	0.58465	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.014000	0.10232	0.0:0.1531:0.8469:0.0	13.825	0.62839	689	0.59000	.;.	.	.	.	.	.	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	0.009063	0.005051	0.010870	0.011696	0.000000	0.008621	0.003049	0.015152	0.02632	1157.33	34	chr16	89746685	.	G	C	1157.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.289;DP=757;ExcessHet=0;FS=5.999;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.59;SOR=0.346	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1171,0,1702	18	0	1	0
chr17	819457	819457	G	A	exonic	NXN	.	nonsynonymous SNV	NXN:NM_001205319:exon5:c.C478T:p.R160W,NXN:NM_022463:exon5:c.C802T:p.R268W	.	432	1089	1	0	0	1	0.000458926	.	.	.	2350959	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.884	0.235342799904	7.7e-05	.	0.0001	0	0	0	0.0002	0.0002	0	6.066e-05	0.0001035	16	154602	rs200792211	0.0001	0.0001	8.168e-05	0.0001	0.0005	9.115e-05	8.646e-05	0.0003	0.0003	0	2.236e-05	0	0	1.873e-05	0.0003	9.533e-05	8.279e-05	0.0005	7.222e-05	7.217e-05	8.993e-05	5.372e-05	0.0006	3.968e-05	3.125e-05	0.0002	9.011e-05	0	0	0	0	0	0	0	0.0001	0	0.0006	0.001	0.78490	D	0.085	0.44106	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.005	0.54552	M	-1.47	0.81067	T	-4.55	0.78553	D	0.821	0.83269	0.126	0.84632	D	0.709	0.90006	D	10	0.8253512	0.81717	D	0.235343	0.88450	D	0.884	0.96614	.	.	0.893258243892	0.89220	0.7486688022970526	0.74812	0.822995016461	0.67267	0.873582959175	0.93077	D	0.581572	0.86306	D	0.190691	0.73027	D	0.310437	0.88673	D	0.186559672603545	0.19639	T	0.975769	0.91601	D	0.53872126	0.69325	0.52312315	0.72449	0.53872126	0.69326	0.52312315	0.72449	-13.235	0.91116	D	.	.	0.528	0.71876	A	.;.;.	.;.;.	5.707895	0.93156	33	0.99571940012243998	0.72440	0.94053	0.59971	D	AEFDBI	0.741042	0.68510	D	0.592428364043491	0.72701	5.84735	0.580767759019518	0.73562	5.990822	0.432619529597635	0.20385	0.706548	0.73137	0	0.588066	0.40923	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.0	5.01	0.66477	4.318000	0.58981	7.347000	0.58277	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.8606:0.1394	15.487	0.75307	956	0.09877	.;Thioredoxin-like fold|Thioredoxin domain;Thioredoxin-like fold	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1622.33	35	chr17	819457	.	G	A	1622.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=772;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=0.018;SOR=0.658	GT:AD:DP:GQ:PL	0/1:57,63:120:99:1636,0,1263	18	0	1	0
chr17	1800130	1800130	A	T	exonic	SMYD4	.	nonsynonymous SNV	SMYD4:NM_052928:exon5:c.T1264A:p.Y422N	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.179888495185	7.7e-05	0.000199681	0.0002	0	0.0004	0	0	0.0002	0	6.288e-05	0.0001423	22	154602	rs371843964	0.0001	0.0001	0.0001	0.0001	0.0024	9.692e-05	9.17e-05	0.0015	0.0012	0	0.0003	0.0032	0	0	0.0024	2.792e-05	0.0003	2.331e-05	0.0001	0.0001	0.0001	0.0001	7.352e-05	8.168e-05	6.724e-05	2.847e-05	1.859e-05	0	0	0	0.0037	0	0	0.0034	7.352e-05	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	3.035	0.86516	M	-1.46	0.80983	T	-7.38	0.94702	D	0.968	0.97856	0.556	0.91321	D	0.711	0.90057	D	10	0.26879334	0.44400	T	0.179888	0.85453	D	0.737	0.90852	.	.	0.930263037546	0.92955	0.8581767155878993	0.85780	0.557126499698	0.52338	0.584997475147	0.50789	T	0.155266	0.49693	T	0.197848	0.73690	D	0.362574	0.90799	D	0.4097865727169	0.29310	T	0.888511	0.61827	D	0.86659485	0.88594	0.8723563	0.93029	0.86659485	0.88596	0.8723563	0.93029	-11.721	0.83466	D	.	.	0.586	0.68305	P	.;.	.;.	3.934062	0.57522	23.9	0.9892222705063386	0.48583	0.99161	0.92128	D	AEBI	0.599337	0.59239	D	0.65105014440502	0.76436	6.486309	0.561612511409784	0.72209	5.773887	0.999998191650662	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	8.366000	0.90006	11.158000	0.87560	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.096000	0.18090	1.0:0.0:0.0:0.0	16.558	0.84362	762	0.50290	SET domain|SET domain;SET domain|SET domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.006098	0.000000	0.02632	2650.33	35	chr17	1800130	.	A	T	2650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.64;DP=879;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.45;ReadPosRankSum=-1.096;SOR=0.726	GT:AD:DP:GQ:PL	0/1:100,97:197:99:2664,0,2621	18	0	1	0
chr17	3524241	3524241	C	T	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon13:c.G1700A:p.R567Q,TRPV3:NM_145068:exon13:c.G1700A:p.R567Q	Olmsted syndrome, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	877248	Isolated_focal_non-epidermolytic_palmoplantar_keratoderma	MONDO:MONDO:0014622,MedGen:C4225339,OMIM:616400,Orphanet:448264	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.886	0.256729105531	7.7e-05	.	9.89e-05	0	8.643e-05	0.0001	0	8.997e-05	0	0.0002	9.06e-05	14	154602	rs199905369	8.619e-05	8.619e-05	8.031e-05	9.213e-05	0.0035	7.353e-05	6.903e-05	0.0023	0.0019	0.0001	6.708e-05	0	7.557e-05	3.744e-05	0.0035	7.194e-05	0.0001	8.115e-05	0.0001	0.0001	0.0001	0.0001	0.0002	7.576e-05	6.281e-05	7.907e-05	5.993e-05	0.0001	0	0.0001	0	0.0002	0	0	0.0001	0	0	0.0	0.91255	D	0.006	0.76473	D	1.0	0.90584	D	0.933	0.68276	D	0.000003	0.62929	D	0.000000	0.999696	0.48338	D	2.75	0.80375	M	-2.26	0.87352	D	-3.73	0.70920	D	0.908	0.90932	0.682	0.92952	D	0.770	0.92192	D	10	0.895735	0.88926	D	0.256729	0.89341	D	0.886	0.96688	.	.	0.826891425671	0.82525	0.8711168333737604	0.87077	0.73894062318	0.63132	0.5955042243	0.52269	T	0.763126	0.93599	D	0.219908	0.75767	D	0.342534	0.90019	D	0.696959376335144	0.40574	D	0.960604	0.85218	D	0.74979055	0.80856	0.6526073	0.79669	0.74979055	0.80857	0.6526073	0.79670	-8.313	0.63183	D	.	.	0.821	0.82441	P	.;.;.;.	.;.;.;.	5.410671	0.90568	31	0.99951088066309857	0.99944	0.98625	0.84843	D	AEFDGBI	0.860243	0.77807	D	0.629390167832783	0.75041	6.236405	0.569106711986376	0.72738	5.857206	0.985931806959625	0.30975	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.23	4.26	0.49832	7.533000	0.80893	5.983000	0.52202	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.733000	0.35199	0.0:0.9233:0.0:0.0767	13.280	0.59643	710	0.56735	Ion transport domain;.;Ion transport 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	0.002018	0.010101	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	756.33	40	chr17	3524241	.	C	T	756.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.357;DP=789;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.88;ReadPosRankSum=-0.105;SOR=0.692	GT:AD:DP:GQ:PL	0/1:69,41:110:99:770,0,1642	18	0	1	0
chr17	3526903	3526903	G	A	exonic	TRPV3	.	nonsynonymous SNV	TRPV3:NM_001258205:exon12:c.C1528T:p.P510S,TRPV3:NM_145068:exon12:c.C1528T:p.P510S	Olmsted syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3344503	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.587	0.222903428975	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs763691919	5.48e-06	7.524e-06	4.088e-06	6.888e-06	0.0001	2.36e-06	1.7e-06	3.349e-05	1.982e-05	0	0	0	0.0001	0	0	8.999e-07	1.657e-05	2.338e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.118	0.28148	T	0.462	0.13403	T	0.986	0.62824	D	0.88	0.66185	P	0.000289	0.46274	D	0.096661	0.996148	0.43041	D	1.795	0.47270	L	-5.02	0.98562	D	-0.78	0.21644	N	0.565	0.63713	1.039	0.97892	D	0.927	0.97581	D	10	0.5064998	0.61849	D	0.222903	0.87876	D	0.587	0.83471	0.505	0.59924	0.886119948663	0.88500	0.8075157376070399	0.80706	0.626975998192	0.56810	0.770802259445	0.77544	T	0.374087	0.73796	T	0.206887	0.74537	D	0.0594028	0.74205	D	0.762470662593842	0.43994	D	0.888311	0.61778	D	0.17550956	0.38413	0.12269173	0.29593	0.17550956	0.38413	0.12269173	0.29592	-6.743	0.52298	T	.	.	0.557	0.67107	A	.;.;.;.	.;.;.;.	4.141316	0.62054	24.4	0.9990219491917991	0.97350	0.96329	0.68606	D	AEFBI	0.740621	0.68481	D	0.471621490114857	0.65439	4.822764	0.529343361625435	0.69975	5.43742	0.993078261080149	0.33075	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.93	4.93	0.64394	6.617000	0.74079	8.518000	0.77413	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.575	0.87845	706	0.57215	Ion transport domain;.;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1785.33	33	chr17	3526903	.	G	A	1785.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.021;DP=778;ExcessHet=0;FS=0.596;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.139;SOR=0.616	GT:AD:DP:GQ:PL	0/1:73,80:153:99:1799,0,1750	18	0	1	0
chr17	3885714	3885714	G	A	exonic	CAMKK1	.	nonsynonymous SNV	CAMKK1:NM_172206:exon2:c.C55T:p.R19C	.	415	1104	3	0	0	3	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.0297708733378	0.0041	0.000798722	0.0036	0.0017	0.0067	0	0.0012	0.0046	0.0057	0.0014	0.0036287	561	154602	rs188101980	0.0046	0.0045	0.0045	0.0046	0.0069	0.0045	0.0044	0.0052	0.0050	0.0012	0.0057	0.0032	0	0.0019	0.0069	0.0051	0.0045	0.0018	0.0033	0.0033	0.0036	0.0031	0.0052	0.0031	0.0030	0.0046	0.0045	0.0008	0	0.0052	0.0026	0	0.0013	0.0102	0.0051	0.0085	0.0010	0.0	0.91255	D	0.028	0.54934	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.48	0.70249	T	-0.45	0.14782	N	0.116	0.10483	-0.8187	0.54015	T	0.206	0.56417	T	6	0.004569292	0.00095	T	0.029771	0.52214	D	0.096	0.27654	.	.	0.781684960334	0.77967	0.17557538755891144	0.17476	.	.	.	.	.	.	.	.	-0.539965	0.00335	T	-0.543973	0.17910	T	0.0334987153603102	0.02554	T	0.508649	0.16166	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33619	B	.	.	1.118136	0.15040	11.54	0.54611587481415802	0.05173	0.05755	0.11685	N	AEFDGBI	0.115596	0.22721	N	-0.528808598287209	0.21152	1.120505	-0.692809117236928	0.17140	0.9100453	0.999987122559275	0.51787	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.75052	0.99595	0	.	.	4.45	1.02	0.19102	0.459000	0.21619	1.436000	0.26487	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.017000	0.10941	0.3822:0.0:0.6178:0.0	6.003	0.18760	434	0.80536	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	527.33	33	chr17	3885714	.	G	A	527.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=650;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.083;SOR=0.644	GT:AD:DP:GQ:PL	0/1:27,21:48:99:541,0,684	18	0	1	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	5800.48	202	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	5800.48	.	AC=25;AF=0.694;AN=36;DP=3235;ExcessHet=0.004;FS=0;InbreedingCoeff=0.5476;MLEAC=26;MLEAF=0.722;MQ=59.7;MQRankSum=-0.138;QD=3.33;SOR=0.877	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,119:120:99:.:.:4205,371,0:.	3	10	5	1
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7941	2221.85	202	chr17	4933915	.	A	*	2221.85	.	AC=27;AF=0.794;AN=34;BaseQRankSum=1.15;DP=3213;ExcessHet=0.1688;FS=0;InbreedingCoeff=0.103;MLEAC=29;MLEAF=0.853;MQ=59.38;MQRankSum=-0.322;QD=1.2;ReadPosRankSum=2.42;SOR=0.937	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,119:120:99:.:.:4205,371,0:.	1	11	5	2
chr17	5182095	5182095	G	A	exonic	ZNF594	.	nonsynonymous SNV	ZNF594:NM_032530:exon2:c.C2162T:p.T721M	.	414	1096	11	1	0	13	0.00589569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0002	0.00239617	0.0018	0.0001	0.0009	0.0001	0	0.0004	0.0011	0.0104	0.0015071	233	154602	rs140516109	0.0009	0.0009	0.0005	0.0013	0.0110	0.0009	0.0008	0.0105	0.0102	2.991e-05	0.0005	0.0016	5.038e-05	0	0.0040	0.0002	0.0009	0.0110	0.0006	0.0006	0.0005	0.0006	0.0094	0.0005	0.0004	0.0072	0.0064	0.0001	0	0.0006	0.0009	0.0002	0	0.0034	0.0003	0.0005	0.0094	0.006	0.61437	D	0.004	0.74150	D	0.975	0.58077	D	0.171	0.35348	B	.	.	.	.	1	0.08975	N	1.75	0.45442	L	1.59	0.28836	T	-1.74	0.41239	N	0.105	0.12627	-1.0403	0.17223	T	0.031	0.13330	T	9	0.0059402585	0.00133	T	.	.	.	0.078	0.22779	.	.	0.187945064343	0.18414	0.009114386701609472	0.00874	0.0130179826969	0.01253	0.347031772137	0.17484	T	0.007771	0.07155	T	-0.626096	0.00101	T	-0.661732	0.08150	T	0.013212258107813	0.00235	T	0.146985	0.01214	T	0.03933552	0.05411	0.057091933	0.10317	0.03933552	0.05410	0.057091933	0.10317	-8.33	0.63297	D	.	.	0.228	0.46025	B	.;.	.;.	2.146215	0.27331	17.43	0.93180590171332578	0.22841	0.00001	0.00044	N	AEFDBHCI	0.040840	0.06131	N	-0.616955707718579	0.18434	0.9570632	-0.834422505081816	0.13662	0.7099648	0.00338620195088715	0.10088	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	1.17	1.17	0.19998	-0.616000	0.05686	-1.050000	0.06486	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.661	0.16942	528	0.73785	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	0.003021	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1532.33	58	chr17	5182095	.	G	A	1532.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=1418;ExcessHet=0;FS=2.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.89;MQRankSum=0;QD=12.07;ReadPosRankSum=-1.024;SOR=0.919	GT:AD:DP:GQ:PL	0/1:73,54:127:99:1546,0,2034	18	0	1	0
chr17	7318113	7318113	C	T	exonic	NEURL4	.	nonsynonymous SNV	NEURL4:NM_001005408:exon25:c.G4006A:p.E1336K,NEURL4:NM_032442:exon25:c.G4012A:p.E1338K	.	419	1102	1	0	0	1	0.000453515	.	.	.	2788783	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0283330982895	.	.	2.484e-05	0	8.64e-05	0	0	2.997e-05	0	0	1.94e-05	3	154602	rs201462316	4.994e-05	4.994e-05	5.581e-05	4.4e-05	0.0003	4.059e-05	3.734e-05	6.092e-05	3.407e-05	5.974e-05	4.472e-05	0.0003	0	0	0.0003	4.856e-05	6.623e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.028	0.46129	D	0.081	0.41913	T	0.999	0.77913	D	0.982	0.75477	D	0.000092	0.51296	D	0.138683	0.996067	0.42998	D	1.525	0.38595	L	1.42	0.33189	T	-1.9	0.44284	N	0.806	0.82761	-0.9090	0.46977	T	0.176	0.51974	T	10	0.5414642	0.63743	D	0.028333	0.51029	D	0.292	0.61157	0.463	0.53242	0.184605227958	0.18053	0.8326094405453902	0.83219	0.726043199482	0.62491	0.852056920528	0.89924	D	0.056836	0.30398	T	0.0409885	0.57175	T	0.00139666	0.70427	D	0.436629235744476	0.30305	T	0.965603	0.87267	D	0.20734516	0.42938	0.15116133	0.35620	0.20734516	0.42938	0.15116133	0.35619	-3.955	0.23128	T	.	.	0.523	0.65692	A	.;.;.	.;.;.	4.673418	0.74716	26.2	0.99911165944867819	0.98022	0.97108	0.72736	D	AEFBI	0.827640	0.74689	D	0.638909655321769	0.75654	6.344126	0.618497174422481	0.76285	6.462626	0.999999994605327	0.74766	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.03	5.03	0.67015	6.380000	0.73090	7.637000	0.63009	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.291	0.87044	506	0.75555	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2515.33	141	chr17	7318113	.	C	T	2515.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=2084;ExcessHet=0;FS=4.101;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.006;SOR=0.747	GT:AD:DP:GQ:PL	0/1:96,97:193:99:2529,0,2348	18	0	1	0
chr17	8797829	8797829	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1292T:p.T431M	.	425	1073	24	0	0	24	0.0110599	.	.	.	2814936	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.215	0.0118119177933	0.0017	0.000599042	0.0022	0.0003	0.0010	0.0002	0.0015	0.0025	0.0033	0.0044	0.0020892	323	154602	rs143053789	0.0027	0.0027	0.0027	0.0028	0.0049	0.0026	0.0026	0.0042	0.0041	0.0005	0.0014	0	0.0001	0.0015	0.0049	0.0029	0.0020	0.0046	0.0015	0.0015	0.0016	0.0015	0.0025	0.0014	0.0013	0.0021	0.0020	0.0003	0	0.0020	0	0	0.0014	0	0.0024	0.0009	0.0025	0.123	0.27544	T	0.128	0.34959	T	0.002	0.09854	B	0.0	0.01387	B	0.888400	0.07280	N	1.070780	1	0.08975	N	-0.69	0.01958	N	-2.27	0.87433	D	0.34	0.03824	N	0.055	0.02658	-0.8222	0.53796	T	0.292	0.66326	T	10	0.007179916	0.00163	T	0.011812	0.29802	T	0.215	0.50805	.	.	0.0954503805726	0.09146	0.15639737675013668	0.15560	0.116721941185	0.13163	0.235561966896	0.02405	T	0.002077	0.01480	T	-0.489098	0.00657	T	-0.475613	0.24913	T	0.00118356059145533	0.00012	T	0.328667	0.06851	T	0.016269209	0.00186	0.034068596	0.02410	0.016269209	0.00186	0.034068596	0.02409	-4.912	0.35870	T	.	.	0.076	0.05756	B	.	.	0.035969	0.04534	1.230	0.84881006772657974	0.15553	0.03629	0.08871	N	AEFBCI	0.055111	0.10079	N	-1.55019479601857	0.01533	0.06696851	-1.51936100233075	0.02195	0.1006067	0.158898627610919	0.17561	0.614807	0.35715	0	0.577304	0.33150	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.9	-1.21	0.09033	0.174000	0.16557	0.182000	0.15643	-1.449000	0.01096	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3713:0.0:0.4897:0.1391	7.017	0.24074	803	0.44167	Major facilitator superfamily associated domain|Major facilitator superfamily domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.005539	0.005051	0.004076	0.000000	0.000000	0.008621	0.006098	0.015152	0.05263	6926.83	46	chr17	8797829	.	G	A	6926.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.31;DP=1652;ExcessHet=0.119;FS=1.102;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.39;SOR=0.769	GT:AD:DP:GQ:PL	0/1:124,133:257:99:3318,0,2916	17	0	2	0
chr17	9693133	9693133	G	A	exonic	USP43	.	nonsynonymous SNV	USP43:NM_001267576:exon9:c.G1360A:p.G454R,USP43:NM_153210:exon9:c.G1360A:p.G454R	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.00682023582181	0.0011	0.000599042	0.0011	0	0.0003	0	0.0006	0.0012	0.0012	0.0023	0.0009185	142	154602	rs201227639	0.0009	0.0009	0.0008	0.0009	0.0028	0.0008	0.0008	0.0017	0.0014	0.0001	0.0005	0.0004	0	0.0004	0.0028	0.0009	0.0009	0.0016	0.0007	0.0007	0.0007	0.0007	0.0017	0.0006	0.0006	0.0010	0.0009	7.228e-05	0	0.0005	0.0006	0	0.0004	0.0034	0.0012	0.0014	0.0017	0.151	0.24564	T	0.441	0.13328	T	0.382	0.34403	B	0.444	0.45865	B	0.335304	0.14048	N	0.670897	0.997029	0.43577	D	1.385	0.34509	L	2.75	0.11622	T	-2.6	0.55983	D	0.454	0.49146	-1.0351	0.18825	T	0.031	0.13504	T	10	0.029360205	0.01063	T	0.00682	0.18037	T	0.232	0.53354	0.704	0.84054	0.598687526909	0.59549	0.6432204660266789	0.64257	0.839396152264	0.67972	0.520281732082	0.41666	T	0.038584	0.24892	T	-0.410399	0.01975	T	-0.386914	0.34914	T	0.0875602695979631	0.10926	T	0.779722	0.42343	T	0.15246356	0.34608	0.1786382	0.40546	0.15246356	0.34608	0.1786382	0.40545	-6.648	0.51418	T	.	.	0.147	0.39168	B	.;.	.;.	2.858650	0.37761	20.6	0.99774563187540444	0.86174	0.96289	0.68414	D	AEFBI	0.520107	0.54510	D	0.0761275046043339	0.45351	2.793065	0.105727027098134	0.44840	2.758127	0.982906525757193	0.30474	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.17	5.17	0.70848	6.498000	0.73585	6.308000	0.55424	0.676000	0.76740	0.973000	0.34540	1.000000	0.68203	0.156000	0.20513	0.0:0.0:1.0:0.0	14.033	0.64147	957	0.09725	.;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	1	0	0	0	0	0	0	0	0	0	0	0.002520	0.000000	0.004076	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	1345.33	33	chr17	9693133	.	G	A	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.616;DP=723;ExcessHet=0;FS=3.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=-2.248;SOR=0.993	GT:AD:DP:GQ:PL	0/1:47,54:101:99:1359,0,1178	18	0	1	0
chr17	15738743	15738743	G	T	exonic	TBC1D26	.	nonsynonymous SNV	TBC1D26:NM_178571:exon8:c.G410T:p.R137M	.	420	1071	29	2	0	33	0.0151724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00300793216827	0.0036	0.00279553	0.0048	0.0014	0.0052	0	0.0051	0.0052	0.01	0.0073	0.0002846	44	154602	rs200599059	0.0045	0.0046	0.0043	0.0047	0.0115	0.0044	0.0044	0.0092	0.0084	0.0007	0.0035	0.0057	2.519e-05	0.0047	0.0115	0.0045	0.0046	0.0080	0.0036	0.0036	0.0034	0.0038	0.0083	0.0033	0.0032	0.0063	0.0055	0.0010	0	0.0048	0.0058	0	0.0034	0.0204	0.0048	0.0024	0.0083	0.056	0.38185	T	0.005	0.72224	D	1.0	0.90584	D	0.981	0.76916	D	0.811425	0.06830	U	1.143400	1	0.08975	N	2.305	0.65957	M	1.34	0.34841	T	-4.52	0.78302	D	0.25	0.31925	-0.8839	0.49448	T	0.189	0.54019	T	10	0.008189052	0.00186	T	0.003008	0.06457	T	0.053	0.14996	.	.	0.283761946502	0.27984	0.1447487754314169	0.14397	3.50374879105	0.99750	0.374598145485	0.21488	T	0.025945	0.19300	T	-0.509024	0.00508	T	-0.498686	0.22484	T	0.0571589763682511	0.06715	T	0.715328	0.35508	T	0.20950828	0.43220	0.28097957	0.54077	0.20950828	0.43219	0.28097957	0.54076	-4.518	0.43479	T	.	.	0.218	0.44809	B	.;.;.	.;.;.	1.291697	0.16929	12.85	0.89938657323165594	0.19236	0.00244	0.01352	N	AEFGI	0.044614	0.07199	N	-0.472508272218424	0.22984	1.231116	-0.852455980394181	0.13229	0.6850969	1.92644233888728E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.44	-2.89	0.05326	-0.806000	0.04632	-0.367000	0.09633	0.350000	0.19923	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.0:0.0:0.4793:0.5207	5.239	0.14780	725	0.54935	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007549	0.000000	0.004121	0.013043	0.000000	0.017544	0.003546	0.016260	0.05263	4685.83	36	chr17	15738743	.	G	T	4685.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.49;DP=930;ExcessHet=0.119;FS=0.424;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=47.18;MQRankSum=-6.547;QD=15.16;ReadPosRankSum=0.393;SOR=0.742	GT:AD:DP:GQ:PL	0/1:67,93:160:99:2402,0,1809	17	0	2	0
chr17	17138095	17138095	C	A	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon7:c.C916A:p.P306T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1704.81	34	chr17	17138095	.	C	A	1704.81	.	AC=2;AF=0.053;AN=38;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=28.9;SOR=1.421	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1732,177,0	18	1	0	0
chr17	17813664	17813664	T	C	exonic	SREBF1	.	nonsynonymous SNV	SREBF1:NM_001321096:exon17:c.A2935G:p.R979G,SREBF1:NM_004176:exon17:c.A3007G:p.R1003G,SREBF1:NM_001005291:exon18:c.A3097G:p.R1033G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00344540720494	.	.	4.908e-05	0	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs554025480	5.567e-05	5.609e-05	6.36e-05	4.758e-05	0.0002	4.532e-05	4.191e-05	5.183e-05	4.753e-05	0	2.618e-05	0	0	0	0.0002	6.431e-05	3.42e-05	4.956e-05	5.255e-05	5.253e-05	7.706e-05	2.689e-05	8.819e-05	2.556e-05	1.83e-05	3.762e-05	2.575e-05	2.412e-05	0	0	0	0	0	0	8.819e-05	0.0005	0	0.435	0.09401	T	0.409	0.14588	T	0.0	0.02946	B	0.0	0.01387	B	0.605071	0.10920	N	0.825638	1	0.08975	N	-0.895	0.01383	N	2.3	0.16953	T	0.19	0.04947	N	0.094	0.18784	-0.9953	0.31218	T	0.013	0.04890	T	10	0.027541637	0.00899	T	0.003445	0.07755	T	0.056	0.15993	0.181	0.08877	0.043077524339	0.03247	0.14140135368717932	0.14063	0.379206947044	0.39320	0.447664648294	0.31625	T	0.002906	0.56562	T	-0.477858	0.00761	T	-0.74017	0.03883	T	0.017018089713845	0.00451	T	0.59944	0.22338	T	0.050565574	0.09154	0.038745075	0.03811	0.050565574	0.09154	0.038745075	0.03811	-1.883	0.02775	T	.	.	0.042	0.00035	B	.;.;.;.;.	.;.;.;.;.	0.707114	0.10760	7.447	0.35872034151577697	0.02276	0.02968	0.07809	N	AEFDBCI	0.053840	0.09736	N	-1.45945811843983	0.02143	0.09432419	-1.36058054872966	0.03683	0.1722883	0.999986526714242	0.51787	0.67177	0.52595	0	0.702456	0.74545	0	0.606735	0.37207	0	0.636168	0.56350	0	.	.	4.66	2.65	0.30588	0.289000	0.18713	2.031000	0.30254	-1.211000	0.01351	0.000000	0.06391	0.935000	0.28640	0.000000	0.00833	0.1545:0.6731:0.0:0.1724	5.688	0.17083	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	0.001028	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	681.81	41	chr17	17813664	.	T	C	681.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.99;SOR=1.931	GT:AD:DP:GQ:PL	1/1:0,22:22:66:709,66,0	18	1	0	0
chr17	31318530	31318530	T	C	exonic	EVI2A	.	nonsynonymous SNV	EVI2A:NM_014210:exon2:c.A484G:p.K162E,EVI2A:NM_001003927:exon3:c.A553G:p.K185E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0144933713869	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1313536827	6.841e-07	6.84e-07	1.361e-06	0	2.238e-05	0	0	.	.	0	2.238e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	0.955	0.54515	P	0.763	0.56556	P	0.000159	0.49130	D	0.139198	1	0.81001	D	2.615	0.76484	M	.	.	.	-4.0	0.74051	D	0.712	0.71498	-0.5215	0.67858	T	0.281	0.65239	T	9	0.66587853	0.70423	D	0.014493	0.34641	T	0.298	0.61843	0.738	0.87063	0.183819452728	0.17975	0.3422978452765338	0.34142	0.110490903992	0.12470	0.543743014336	0.44974	T	0.362469	0.72837	T	0.0658837	0.60344	T	-0.0602738	0.66313	T	0.984052538871765	0.75497	D	0.778122	0.41194	T	0.83429456	0.86203	0.79299337	0.87831	0.83429456	0.86204	0.79299337	0.87832	-7.093	0.54710	T	.	.	0.596	0.68714	P	.;.;.;.	.;.;.;.	4.450174	0.69175	25.3	0.99877177747163015	0.95410	0.79683	0.39533	D	ALL	0.426779	0.49099	N	0.428494082916758	0.62996	4.524938	0.423456359986019	0.63028	4.528884	0.999999999986803	0.74766	0.57788	0.32782	0	0.52208	0.09955	0	0.657636	0.52715	0	0.421255	0.06892	1	.	.	5.71	4.62	0.56946	2.708000	0.46820	4.255000	0.42777	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1417:0.8583	12.298	0.54177	845	0.36510	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1781.33	36	chr17	31318530	.	T	C	1781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.403;DP=767;ExcessHet=0;FS=5.216;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.792;SOR=0.732	GT:AD:DP:GQ:PL	0/1:61,75:136:99:1795,0,1509	18	0	1	0
chr17	31530328	31530328	G	C	exonic	RAB11FIP4	.	nonsynonymous SNV	RAB11FIP4:NM_001346749:exon10:c.G876C:p.E292D,RAB11FIP4:NM_001346747:exon11:c.G1155C:p.E385D,RAB11FIP4:NM_001303542:exon12:c.G1350C:p.E450D,RAB11FIP4:NM_001346748:exon12:c.G1233C:p.E411D,RAB11FIP4:NM_032932:exon14:c.G1656C:p.E552D	.	425	1093	4	0	0	4	0.00182648	.	.	.	2350341	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.186	0.0110063795541	.	0.000399361	0.0003	0	0.0002	0.0001	0	0.0001	0	0.0012	0.0002458	38	154602	rs200996769	0.0001	0.0001	6.943e-05	0.0001	0.0028	8.915e-05	8.4e-05	0.0017	0.0014	0	6.708e-05	0.0002	5.038e-05	0	0.0028	1.799e-05	0.0002	0.0010	5.252e-05	5.249e-05	7.708e-05	2.686e-05	0.0006	2.555e-05	1.829e-05	0.0002	8.989e-05	0	0	6.536e-05	0.0009	0	0	0.0034	0	0	0.0006	.	.	.	0.526	0.13441	T	0.284	0.32165	B	0.079	0.28749	B	0.000000	0.84330	D	0.000000	0.999982	0.54805	D	0.11	0.08516	N	.	.	.	.	.	.	0.722	0.76019	-1.0583	0.12184	T	0.079	0.31526	T	8	0.05828467	0.06828	T	0.011006	0.28187	T	0.186	0.46104	0.067	0.00332	0.187035705434	0.18338	0.42607643976234166	0.42524	.	.	0.812047958374	0.83805	D	0.032016	0.22299	T	-0.20249	0.20446	T	-0.104172	0.63073	T	0.0827178210020065	0.10332	T	0.822018	0.48145	T	0.124471284	0.29203	0.089198664	0.20845	0.124471284	0.29203	0.089198664	0.20844	-4.056	0.24639	T	.	.	0.188	0.40457	B	.;.	.;.	2.796367	0.36774	20.3	0.96729106835143985	0.30880	0.95523	0.65060	D	AEFBI	0.610325	0.59919	D	-0.00164200646951715	0.41781	2.505308	0.193583522181459	0.49494	3.151944	0.999259815838627	0.38906	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.8	4.75	0.59954	2.817000	0.47733	5.108000	0.47491	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.1437:0.0:0.8563:0.0	6.712	0.22471	924	0.18029	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1570.33	39	chr17	31530328	.	G	C	1570.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.308;DP=960;ExcessHet=0;FS=6.239;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=2.56;SOR=0.407	GT:AD:DP:GQ:PL	0/1:73,69:142:99:1584,0,1821	18	0	1	0
chr17	32659262	32659262	C	T	exonic	MYO1D	.	nonsynonymous SNV	MYO1D:NM_001303279:exon17:c.G2198A:p.R733H,MYO1D:NM_015194:exon17:c.G2198A:p.R733H	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	0.0245633346357	.	.	2.471e-05	0	0	0.0001	0.0002	0	0	6.056e-05	1.94e-05	3	154602	rs755549663	3.01e-05	3.01e-05	3.131e-05	2.888e-05	0.0002	2.281e-05	2.032e-05	5.395e-05	4.042e-05	0	0	0	2.519e-05	3.744e-05	0.0002	2.518e-05	4.967e-05	0.0001	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	9.425e-05	0	0	0	0	0.055	0.38407	T	0.087	0.40747	T	0.999	0.77913	D	0.891	0.63213	P	0.001109	0.40219	U	0.000000	0.999922	0.51308	D	2.605	0.76211	M	-0.71	0.95561	T	-3.15	0.64132	D	0.228	0.25622	-0.2871	0.75345	T	0.429	0.77120	T	10	0.33750892	0.50872	T	0.024563	0.47547	T	0.441	0.74447	0.574	0.69826	0.934412694555	0.93373	0.7164750844942476	0.71590	0.359462052903	0.37640	0.245619416237	0.03320	T	0.419303	0.77137	T	-0.0401749	0.45922	T	-0.113957	0.62296	T	0.847255349159241	0.49931	D	0.921208	0.71541	D	0.09897008	0.23350	0.06676216	0.13721	0.09897008	0.23350	0.06676216	0.13720	-9.018	0.67813	D	.	.	0.088	0.20157	B	.;.;.	.;.;.	3.326334	0.45769	22.2	0.99923062989110889	0.98917	0.87427	0.46963	D	AEFGBCI	0.540060	0.55678	D	0.455613123898764	0.64522	4.70864	0.402556303158429	0.61723	4.376614	0.996797301961557	0.35014	0.743674	0.98306	0	0.779548	0.99637	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	6.07	3.04	0.34171	1.774000	0.38203	0.107000	0.14728	0.599000	0.40250	1.000000	0.71638	0.927000	0.28453	1.000000	0.97212	0.136:0.7207:0.0:0.1433	7.434	0.26317	917	0.20147	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1769.33	38	chr17	32659262	.	C	T	1769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.057;DP=777;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=-0.26;SOR=0.783	GT:AD:DP:GQ:PL	0/1:65,73:138:99:1783,0,1587	18	0	1	0
chr17	35352810	35352810	T	C	exonic	SLFN11	.	nonsynonymous SNV	SLFN11:NM_152270:exon5:c.A2252G:p.N751S,SLFN11:NM_001104589:exon6:c.A2252G:p.N751S,SLFN11:NM_001376009:exon6:c.A2252G:p.N751S,SLFN11:NM_001376012:exon6:c.A2252G:p.N751S,SLFN11:NM_001104587:exon7:c.A2252G:p.N751S,SLFN11:NM_001104588:exon7:c.A2252G:p.N751S,SLFN11:NM_001104590:exon7:c.A2252G:p.N751S,SLFN11:NM_001376007:exon7:c.A2252G:p.N751S,SLFN11:NM_001376008:exon7:c.A2252G:p.N751S,SLFN11:NM_001376010:exon7:c.A2252G:p.N751S,SLFN11:NM_001376011:exon7:c.A2252G:p.N751S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0221755007192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.016	0.60972	D	0.477	0.36687	P	0.143	0.33763	B	0.231101	0.15919	N	0.559801	1	0.08975	N	1.875	0.49914	L	-1.53	0.81559	D	-3.6	0.69357	D	0.078	0.05287	-0.5139	0.68143	T	0.406	0.75593	T	10	0.1593906	0.29949	T	0.022176	0.45042	T	0.251	0.56024	0.536	0.64585	0.450928719235	0.44716	0.056984182562273375	0.05639	0.027753706553	0.02844	0.345785915852	0.17299	T	0.079109	0.36050	T	-0.143968	0.29260	T	-0.444576	0.28296	T	0.207722022828871	0.20833	T	0.530647	0.17608	T	0.06735689	0.14579	0.07932416	0.17847	0.06735689	0.14578	0.07932416	0.17846	-5.777	0.44373	T	.	.	0.095	0.15385	B	.;.	.;.	1.223254	0.16175	12.37	0.95740043064509539	0.27695	0.10450	0.15953	N	AEFDBIJ	0.063058	0.12162	N	-0.539216458381721	0.20823	1.100612	-0.703078035543693	0.16883	0.8952648	9.46476103149531E-4	0.08042	0.706548	0.73137	0	0.659912	0.62753	0	0.624306	0.44879	0	0.714379	0.83352	0	.	.	4.0	1.65	0.23015	0.422000	0.21016	0.737000	0.21131	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1945:0.0:0.2026:0.603	4.603	0.11753	554	0.71839	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	72.33	34	chr17	35352810	.	T	C	72.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.319;DP=848;ExcessHet=0;FS=101.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=1.76;SOR=6.665	GT:AD:DP:GQ:PL	0/1:145,27:172:86:86,0,3845	18	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:48,47:99:99:531,0,510	1	0	18	0
chr17	40178135	40178135	G	A	exonic	RAPGEFL1	.	nonsynonymous SNV	RAPGEFL1:NM_016339:exon1:c.G274A:p.A92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.42e-06	4.293e-05	1.6e-05	0	8.098e-06	1.98e-06	5.5e-07	1.35e-06	5e-07	0	0	0	0	0	0	8.098e-06	4.268e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.373	0.16328	T	.	.	.	.	.	.	.	.	.	.	0.999991	0.08975	N	.	.	.	.	.	.	.	.	.	0.037	0.01135	-0.9784	0.35368	T	0.023	0.09923	T	5	0.068644464	0.09738	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.2120214355515725	0.21118	.	.	.	.	.	0.010317	0.09328	T	-0.370244	0.03582	T	-0.769607	0.02781	T	0.165464088320732	0.18266	T	0.381762	0.09261	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03625	B	.	.	1.080663	0.14636	11.19	0.86267707158053886	0.16423	0.07333	0.13354	N	AEFDBCI	.	.	.	-0.664198601281877	0.17047	0.8739397	-0.765629658793394	0.15340	0.8062336	0.999580889003269	0.40607	0.110573	0.02883	0	0.037452	0.00068	0	0.119651	0.03204	0	0.079188	0.02158	0	0.171352	0.28945	5.16	0.16	0.14261	-0.020000	0.12466	0.058000	0.14093	-0.226000	0.07819	0.000000	0.06391	0.001000	0.17328	0.262000	0.23568	0.1761:0.0:0.4414:0.3824	4.428	0.10940	213	0.91726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	395.33	25	chr17	40178135	.	G	A	395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.675;DP=509;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=-0.188;SOR=0.836	GT:AD:DP:GQ:PL	0/1:13,17:30:99:409,0,269	18	0	1	0
chr17	40779628	40779628	C	T	splicing	KRT27	NM_181537:exon5:c.847-1G>A	.	.	.	427	1086	9	0	0	9	0.00412655	1.0000	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0151757	0.0077	9.696e-05	0.0003	0.0001	0	4.52e-05	0.0011	0.0561	0.0068175	1054	154602	rs187944199	0.0034	0.0034	0.0019	0.0049	0.0543	0.0033	0.0033	0.0530	0.0525	5.974e-05	8.946e-05	0	0	0	0.0028	2.338e-05	0.0039	0.0543	0.0018	0.0018	0.0009	0.0027	0.0541	0.0016	0.0015	0.0488	0.0467	0.0001	0	0	0	0.0006	0	0	1.47e-05	0	0.0541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0383149	0.56825	T	0.323996	0.89257	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.220290	0.94819	34	0.99456976980457279	0.65581	0.87659	0.47272	D	AEFDGBHCI	.	.	.	1.04428177177827	0.96953	15.37492	0.892118857653241	0.95220	13.41913	0.999999999682332	0.74766	0.095506	0.02484	0	0.078755	0.01978	0	0.134018	0.03721	0	0.109499	0.03221	0	0.985857	0.93731	5.52	5.52	0.82153	6.938000	0.75715	7.597000	0.61435	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.599000	0.31363	0.0:1.0:0.0:0.0	18.777	0.91881	65	0.97253	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3907.83	37	chr17	40779628	.	C	T	3907.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.356;DP=1035;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=0.439;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,40:94:99:0|1:40779624_C_T:1506,0,2143:40779624	17	0	2	0
chr17	41350671	41350671	C	T	exonic	KRT33A	.	nonsynonymous SNV	KRT33A:NM_004138:exon1:c.G97A:p.G33R	.	399	1121	2	0	0	2	0.000891266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.528	.	0.0002	0.0117812	0.0046	0.0002	8.64e-05	0	0	0	0	0.0331	0.0040556	627	154602	rs373657561	0.0020	0.0020	0.0012	0.0028	0.0315	0.0019	0.0019	0.0305	0.0301	0.0006	0.0001	0	0	0	0.0002	6.205e-05	0.0022	0.0315	0.0012	0.0012	0.0010	0.0014	0.0339	0.0011	0.0010	0.0297	0.0280	0.0004	0	0	0	0	0	0	5.881e-05	0	0.0339	0.038	0.42783	D	0.075	0.42794	T	0.966	0.56202	D	0.739	0.55653	P	0.000003	0.62929	D	0.000000	0.98382	0.40064	D	3.185	0.88900	M	-1.63	0.82440	D	-4.76	0.80340	D	0.487	0.52119	0.418	0.89372	D	0.650	0.87792	D	10	0.0069600344	0.00158	T	.	.	.	0.528	0.80067	0.304	0.27325	0.523806315272	0.52025	0.8685496233580762	0.86819	0.188998635746	0.21219	0.677276432514	0.63878	T	0.456617	0.79531	T	-0.14105	0.29723	T	0.0482994	0.73470	D	0.0938613073260472	0.11668	T	.	.	.	0.3682893	0.58457	0.41920948	0.65922	0.3682893	0.58458	0.41920948	0.65922	-4.697	0.33367	T	.	.	0.490	0.64117	A	.	.	4.473641	0.69731	25.4	0.99787543142408075	0.87396	0.98283	0.81242	D	AEFBI	0.534415	0.55347	D	0.605713078235576	0.73537	5.982084	0.557563919299884	0.71923	5.729711	0.142749172670898	0.17303	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.09	5.09	0.68647	0.585000	0.23580	1.573000	0.27428	0.594000	0.32500	0.001000	0.13787	0.544000	0.25431	0.918000	0.45347	0.0:1.0:0.0:0.0	15.701	0.77301	150	0.94078	.	.	.	.	.	.	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	0.003634	0.000000	0.000000	0.003546	0.000000	0.000000	0.000000	0.015152	0.02632	1451.33	34	chr17	41350671	.	C	T	1451.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.24;DP=1286;ExcessHet=0;FS=9.902;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.83;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.146;SOR=1.275	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1465,0,1671	18	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	.	.	.	.	.	.	.	.	0.1053	293.7	37	chr17	41382308	.	A	G	293.7	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.883;DP=1756;ExcessHet=0.7564;FS=118.901;InbreedingCoeff=-0.1222;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.236;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,19:160:67:0|1:41382308_A_G:67,0,5582:41382308	15	0	4	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	.	.	.	.	.	.	.	.	0.1053	438.61	37	chr17	41382311	.	C	G	438.61	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-6.381;DP=1894;ExcessHet=0.7564;FS=117.824;InbreedingCoeff=-0.1166;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.649;SOR=10.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,19:165:52:0|1:41382308_A_G:52,0,5735:41382308	15	0	4	0
chr17	42851611	42851611	C	T	exonic	AOC3	.	nonsynonymous SNV	AOC3:NM_001277731:exon1:c.C268T:p.R90W,AOC3:NM_003734:exon1:c.C268T:p.R90W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.0106155544933	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs575260524	1.574e-05	1.573e-05	1.498e-05	1.651e-05	0.0001	1.048e-05	8.76e-06	3.348e-05	1.981e-05	0	0	0	0.0001	0	0	1.439e-05	4.972e-05	0	3.283e-05	3.281e-05	3.854e-05	2.686e-05	0.0002	1.26e-05	7.97e-06	1.913e-05	1.03e-05	7.216e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.062	0.36912	T	0.018	0.70582	D	0.041	0.21357	B	0.029	0.21540	B	0.299870	0.14617	N	0.672756	0.912889	0.27468	N	1.5	0.37844	L	1.48	0.31731	T	-3.27	0.65512	D	0.224	0.25130	-1.0510	0.14119	T	0.060	0.24981	T	10	0.088994235	0.15375	T	0.010616	0.27366	T	0.104	0.29647	0.548	0.66296	0.453962894745	0.45019	0.49793858630911847	0.49714	0.938582361271	0.72127	0.371343672276	0.21025	T	0.184043	0.53657	T	-0.300998	0.08567	T	-0.670139	0.07600	T	0.495732694864273	0.32474	T	0.232077	0.05569	T	0.19602989	0.41414	0.12632307	0.30426	0.19602989	0.41414	0.12632307	0.30425	-8.486	0.64337	D	.	.	0.102	0.17995	B	.;.	.;.	2.990514	0.39923	21.1	0.99388495574520941	0.62202	0.30521	0.24103	N	AEFGBI	0.440688	0.49915	N	-0.419239782128084	0.24795	1.341352	-0.371786628969364	0.25842	1.423643	0.973074518417112	0.29424	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.05	4.02	0.45968	1.406000	0.34254	1.730000	0.28322	0.549000	0.26987	0.001000	0.13787	0.005000	0.19230	0.228000	0.22680	0.2338:0.5118:0.2544:0.0	7.446	0.26384	260	0.89800	Copper amine oxidase, N2-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2060.33	33	chr17	42851611	.	C	T	2060.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=869;ExcessHet=0;FS=1.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.63;MQRankSum=0.226;QD=10.05;ReadPosRankSum=0.24;SOR=0.59	GT:AD:DP:GQ:PL	0/1:116,89:205:99:2074,0,2763	18	0	1	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.1071	431.39	47	chr17	43209576	.	C	T	431.39	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-2.417;DP=821;ExcessHet=0.3672;FS=184.512;InbreedingCoeff=-0.1723;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.57;ReadPosRankSum=0.944;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,10:53:99:0|1:43209572_C_T:128,0,1431:43209572	11	0	3	5
chr17	44399208	44399208	G	A	exonic	GPATCH8	.	nonsynonymous SNV	GPATCH8:NM_001304943:exon5:c.C2635T:p.R879W,GPATCH8:NM_001304939:exon7:c.C2794T:p.R932W,GPATCH8:NM_001304942:exon7:c.C2635T:p.R879W,GPATCH8:NM_001002909:exon8:c.C2869T:p.R957W,GPATCH8:NM_001304941:exon9:c.C2635T:p.R879W,GPATCH8:NM_001304940:exon10:c.C2635T:p.R879W	.	424	1082	14	2	0	18	0.00824931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0395172923401	0.0012	0.000998403	0.0014	0.0007	0.0013	0.0001	0.0009	0.0019	0	0.0010	0.0014748	228	154602	rs118151586	0.0016	0.0016	0.0016	0.0017	0.0045	0.0016	0.0016	0.0032	0.0027	0.0003	0.0016	0.0019	0	0.0011	0.0045	0.0018	0.0018	0.0010	0.0016	0.0016	0.0017	0.0015	0.0033	0.0014	0.0014	0.0026	0.0023	0.0004	0.0011	0.0033	0.0020	0.0002	0.0009	0.0102	0.0021	0.0024	0.0015	.	.	.	0.036	0.52060	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999376	0.46831	D	0.895	0.22405	L	2.28	0.17271	T	.	.	.	0.33	0.37093	-1.1294	0.01811	T	0.067	0.27640	T	10	0.012443721	0.00267	T	0.039517	0.58854	D	.	.	.	.	0.244449712813	0.24043	0.5119524178810493	0.51117	0.14612908303	0.16499	0.696727156639	0.66671	T	0.165489	0.51136	T	-0.473663	0.00807	T	-0.459328	0.26671	T	0.0250613085658751	0.01281	T	0.931907	0.74605	D	0.32208768	0.54816	0.1886818	0.42173	0.32208768	0.54816	0.1886818	0.42172	-7.813	0.59789	D	.	.	0.187	0.40392	B	.	.	3.441960	0.47889	22.5	0.98605998675133144	0.43572	0.93124	0.57389	D	AEFGBCI	0.681268	0.64468	D	0.0347309636097684	0.43441	2.636941	0.000785525983892796	0.39752	2.361828	0.0289572544297276	0.13860	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.97	1.7	0.23359	1.417000	0.34378	3.978000	0.40881	-0.153000	0.12021	0.945000	0.32849	1.000000	0.68203	0.958000	0.51230	0.0:0.0:0.4389:0.5611	13.776	0.62540	511	0.75131	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3349.33	43	chr17	44399208	.	G	A	3349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.583;DP=1041;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.37;ReadPosRankSum=0.478;SOR=0.718	GT:AD:DP:GQ:PL	0/1:104,129:233:99:3363,0,2535	18	0	1	0
chr17	48592351	48592351	C	T	exonic	HOXB5	.	nonsynonymous SNV	HOXB5:NM_002147:exon2:c.G668A:p.R223Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.392055766658	.	.	.	.	.	.	.	.	.	.	.	.	.	rs765156260	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.27	0.32069	L	-3.8	0.95696	D	-3.51	0.68298	D	0.694	0.69913	0.896	0.95623	D	0.893	0.96452	D	9	0.90482664	0.89847	D	0.392056	0.93210	D	0.804	0.93621	0.747	0.87821	0.999905143127	0.99990	0.8282885994590793	0.82786	1.98777310785	0.93715	0.93256020546	0.99126	D	0.843521	0.96372	D	0.352755	0.86693	D	0.268931	0.86518	D	0.9942347407341	0.85407	D	0.969903	0.89155	D	0.82315564	0.85434	0.7477218	0.85088	0.82315564	0.85435	0.7477218	0.85089	-13.693	0.92016	D	.	.	0.996	0.95940	P	.	.	5.943359	0.94139	33	0.99916510289710536	0.98449	0.92912	0.56853	D	ALL	0.968013	0.99049	D	0.688152421261408	0.78857	6.956595	0.698878017986825	0.82293	7.731338	1.0	0.98316	0.562547	0.31514	0	0.541168	0.11318	0	0.616487	0.41570	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	6.143000	0.71516	7.704000	0.66446	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.241	0.93871	689	0.59000	Homeobox domain|Homeobox domain, metazoa|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	.	.	.	.	.	.	.	.	0.02632	2834.33	33	chr17	48592351	.	C	T	2834.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.305;DP=858;ExcessHet=0;FS=1.025;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=2.12;SOR=0.727	GT:AD:DP:GQ:PL	0/1:106,120:226:99:2848,0,2408	18	0	1	0
chr17	49049420	49049425	CCAGGC	-	exonic	IGF2BP1	.	nonframeshift deletion	IGF2BP1:NM_001160423:exon13:c.1293_1298del:p.Q434_A435del,IGF2BP1:NM_006546:exon15:c.1710_1715del:p.Q573_A574del	.	427	1086	9	0	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.766e-05	8.718e-05	0	0.0002	0.0003	0	0.0011	3.84e-05	1	26028	rs761658543	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	0	8.944e-05	0.0011	0	5.617e-05	0.0009	0.0003	0.0005	0.0011	0.0004	0.0004	0.0003	0.0004	0.0017	0.0003	0.0003	0.0008	0.0006	7.216e-05	0	0.0003	0.0017	0	0	0	0.0005	0.0009	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1487.29	34	chr17	49049419	.	ACCAGGC	A	1487.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.252;DP=707;ExcessHet=0;FS=4.595;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.83;ReadPosRankSum=-0.377;SOR=1.239	GT:AD:DP:GQ:PL	0/1:36,39:75:99:1501,0,1393	18	0	1	0
chr17	49711281	49711281	G	A	exonic	FAM117A	.	nonsynonymous SNV	FAM117A:NM_030802:exon8:c.C1336T:p.L446F	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00512514840755	.	.	3.506e-05	0	8.741e-05	0	0	0	0	0.0002	5.17e-05	8	154602	rs768720119	1.099e-05	1.231e-05	8.19e-06	1.382e-05	0.0002	6.51e-06	5.26e-06	3.007e-05	2.045e-05	0	4.508e-05	0	0	0	0.0002	5.412e-06	1.666e-05	6.99e-05	1.314e-05	1.313e-05	0	2.689e-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	0.006	0.61437	D	0.131	0.34716	T	0.99	0.63424	D	0.901	0.63994	P	0.021226	0.26875	N	0.181868	0.812893	0.34666	D	0.55	0.14455	N	.	.	.	-1.2	0.30555	N	0.356	0.43320	-0.8380	0.52780	T	0.101	0.37392	T	9	0.153775	0.29019	T	0.005125	0.13001	T	0.107	0.30369	0.099	0.01433	0.0482279557977	0.04254	0.28957939212064926	0.28870	1.05480476206	0.76289	0.613666892052	0.54834	T	0.044822	0.26933	T	-0.205638	0.19996	T	-0.296492	0.45094	T	0.291990607976913	0.24672	T	0.730727	0.34650	T	0.08952903	0.20922	0.09151522	0.21519	0.08952903	0.20922	0.09151522	0.21518	-4.612	0.32322	T	.	.	0.100	0.27373	B	.;.	.;.	3.623186	0.51284	23.1	0.99863370617303093	0.94184	0.85221	0.44335	D	AEFDBI	0.362204	0.45155	N	0.29081338621149	0.55682	3.732267	0.32799486899558	0.57191	3.884007	0.078816272232719	0.15799	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.669	0.65921	0	.	.	5.12	4.15	0.47978	1.532000	0.35634	7.625000	0.62478	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0843:0.1557:0.76:0.0	8.439	0.31967	770	0.49152	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	747.33	33	chr17	49711281	.	G	A	747.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.716;DP=703;ExcessHet=0;FS=5.073;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.003;SOR=0.295	GT:AD:DP:GQ:PL	0/1:40,28:68:99:761,0,1199	18	0	1	0
chr17	50097448	50097448	-	GGGG	exonic	PDK2	.	frameshift insertion	PDK2:NM_001199900:exon2:c.144_145insGGGG:p.S49Gfs*67,PDK2:NM_002611:exon2:c.144_145insGGGG:p.S49Gfs*67	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	377.15	33	chr17	50097448	.	C	CGGGG	377.15	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-0.607;DP=2043;ExcessHet=0.119;FS=71.956;InbreedingCoeff=-0.1692;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=1.76;SOR=8.862	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:136,9:156:78:.:.:78,0,5562:.	11	0	1	7
chr17	50551047	50551047	C	T	exonic	SPATA20	.	nonsynonymous SNV	SPATA20:NM_001258372:exon11:c.C1385T:p.S462L,SPATA20:NM_001258373:exon12:c.C1253T:p.S418L,SPATA20:NM_022827:exon12:c.C1433T:p.S478L	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.0828021620692	7.7e-05	0.000399361	0.0001	0	0.0002	0	0	0.0002	0	6.066e-05	0.0001035	16	154602	rs147951599	0.0001	0.0001	0.0001	0.0001	0.0040	0.0001	0.0001	0.0027	0.0023	2.987e-05	0.0004	0.0018	0	0	0.0040	7.734e-05	0.0003	0.0001	0.0004	0.0004	0.0004	0.0003	0.0031	0.0003	0.0003	0.0024	0.0021	4.809e-05	0	0.0031	0.0017	0	0	0	2.94e-05	0.0005	0	0.003	0.72154	D	0.018	0.60337	D	0.86	0.47975	P	0.399	0.44455	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.6	0.76081	M	0.95	0.43279	T	-4.95	0.81910	D	0.829	0.91852	-0.7411	0.58396	T	0.175	0.51959	T	10	0.24658042	0.41925	T	0.082802	0.73979	D	0.464	0.76023	.	.	0.636824887168	0.63383	0.6413081650969661	0.64065	0.393197928144	0.40493	0.641404032707	0.58764	T	0.310627	0.68257	T	0.0915371	0.63361	D	0.119412	0.78196	D	0.756112337112427	0.43630	D	0.957038	0.83775	D	0.7139685	0.78826	0.66214406	0.80200	0.7139685	0.78828	0.66214406	0.80201	-10.314	0.75770	D	.	.	0.518	0.72372	A	.;.;.;.	.;.;.;.	4.690185	0.75145	26.3	0.99896432017712977	0.96895	0.98314	0.81539	D	ALL	0.958879	0.97891	D	0.629022314700083	0.75017	6.232314	0.673987161321917	0.80406	7.292259	1.0	0.98316	0.839682	0.99964	0	0.697927	0.68747	0	0.736553	0.94036	0	0.825845	0.99933	0	.	.	5.85	5.85	0.93663	7.848000	0.85199	7.662000	0.64290	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.165	0.98150	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	.	.	.	.	.	.	.	.	0.02632	1575.33	35	chr17	50551047	.	C	T	1575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=1186;ExcessHet=0;FS=2.071;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.122;SOR=0.787	GT:AD:DP:GQ:PL	0/1:86,62:148:99:1589,0,2200	18	0	1	0
chr17	61784346	61784346	C	T	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon11:c.G1552A:p.V518I	Breast cancer, early-onset, Autosomal dominant;Fanconi anemia, complementation group J	5	1514	3	0	0	3	0.000989772	.	.	YES	185270	Fanconi_anemia_complementation_group_J|Familial_cancer_of_breast|not_provided|Hereditary_cancer-predisposing_syndrome|not_specified	MONDO:MONDO:0012187,MedGen:C1836860,OMIM:609054,Orphanet:84|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.127	0.017142626447	.	.	.	.	.	.	.	.	.	.	.	.	.	rs786201701	2.738e-06	2.736e-06	2.725e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.123e-05	2.533e-05	0	0	0	0	0	0.0003	0	3.313e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.536	0.10967	T	0.0	0.02946	B	0.0	0.01387	B	0.006571	0.31942	N	0.361089	0.999906	0.19694	N	-0.315	0.03579	N	-0.72	0.74265	T	-0.08	0.08187	N	0.026	0.00527	-1.0046	0.28577	T	0.081	0.32090	T	9	0.01914084	0.00424	T	0.017143	0.38716	T	0.127	0.34888	0.282	0.23801	0.379881503574	0.37595	0.09410078353605628	0.09342	0.129847023241	0.14643	0.301818549633	0.10672	T	0.086023	0.37632	T	-0.187705	0.22595	T	-0.507401	0.21583	T	0.0334268249571323	0.02541	T	0.483152	0.14651	T	0.028192192	0.02119	0.03221079	0.01923	0.028192192	0.02119	0.03221079	0.01923	-3.533	0.16897	T	0.16086567736523635	0.19654	0.063	0.01387	B	.;.	.;.	-0.938155	0.00864	0.030	0.53681989125507512	0.04987	0.04767	0.10476	N	AEFGBCI	0.032784	0.03768	N	-1.52167591810791	0.01707	0.07473236	-1.49297294354067	0.02401	0.1103896	0.999969947323272	0.48965	0.660377	0.49826	0	0.633563	0.54681	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.37	-7.76	0.01094	-0.130000	0.10477	-5.929000	0.01549	-0.153000	0.12021	0.251000	0.24859	0.000000	0.08366	0.978000	0.57271	0.0:0.5575:0.0:0.4425	15.334	0.73942	49	0.97662	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1811.33	33	chr17	61784346	.	C	T	1811.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.924;DP=783;ExcessHet=0;FS=2.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=0.825;SOR=0.961	GT:AD:DP:GQ:PL	0/1:84,79:163:99:1825,0,2024	18	0	1	0
chr17	61847151	61847151	C	T	exonic	BRIP1	.	nonsynonymous SNV	BRIP1:NM_032043:exon6:c.G577A:p.V193I	Breast cancer, early-onset, Autosomal dominant;Fanconi anemia, complementation group J	7	1502	11	2	0	15	0.00496853	.	.	YES	133649	Breast_and/or_ovarian_cancer|not_provided|Ovarian_cancer|not_specified|Malignant_tumor_of_breast|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast|Fanconi_anemia_complementation_group_J|Hereditary_breast_ovarian_cancer_syndrome	MedGen:CN221562|MedGen:C3661900|MONDO:MONDO:0008170,MedGen:C1140680,OMIM:167000,Orphanet:213500|MedGen:CN169374|MONDO:MONDO:0007254,MedGen:C0006142|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0012187,MedGen:C1836860,OMIM:609054,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0427326126431	0.0040	0.00139776	0.0040	0.0004	0.0044	0	0.0015	0.0057	0.0055	0.0019	0.0037774	584	154602	rs4988346	0.0040	0.0041	0.0041	0.0040	0.0094	0.0040	0.0039	0.0074	0.0067	0.0006	0.0037	0.0051	0	0.0011	0.0094	0.0045	0.0041	0.0026	0.0030	0.0030	0.0032	0.0029	0.0049	0.0028	0.0027	0.0045	0.0043	0.0007	0.0132	0.0031	0.0037	0	0.0009	0.0102	0.0049	0.0038	0.0014	0.911	0.02361	T	0.613	0.07919	T	0.0	0.02946	B	0.001	0.04355	B	0.026343	0.01647	N	2.024820	1	0.08975	N	1.845	0.48678	L	-0.8	0.74583	T	-0.26	0.11185	N	0.035	0.01658	-0.9417	0.42346	T	0.194	0.54768	T	9	0.005566299	0.00123	T	0.042733	0.60619	D	0.071	0.20720	.	.	0.287603790349	0.28378	0.1385714749601418	0.13780	0.129564647105	0.14605	0.231396526098	0.02073	T	0.093285	0.39180	T	-0.595182	0.00156	T	-0.623988	0.10874	T	0.00131501224498598	0.00013	T	0.40306	0.10319	T	0.010016596	0.00005	0.016203519	0.00013	0.0106648905	0.00009	0.016928716	0.00023	-3.709	0.19451	T	0.11864809193338173	0.10969	0.064	0.01909	B	.;.	.;.	-0.962179	0.00826	0.028	0.53543295037057992	0.04960	0.00956	0.03673	N	AEFDGBI	0.021225	0.00923	N	-1.64424915565625	0.01060	0.04597174	-1.76429798153617	0.00880	0.03935571	0.755465242750538	0.23426	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.26	-8.22	0.00910	-0.580000	0.05920	-0.474000	0.08960	-1.030000	0.01696	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3095:0.5173:0.0:0.1732	7.958	0.29217	45	0.97767	Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase superfamily 1/2, ATP-binding domain|Helicase-like, DEXD box c2 type;Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type|Helicase superfamily 1/2, ATP-binding domain|Helicase-like, DEXD box c2 type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.009073	0.010204	0.006793	0.011696	0.000000	0.000000	0.018293	0.000000	0.02632	1311.33	33	chr17	61847151	.	C	T	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.232;DP=757;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.034;SOR=0.66	GT:AD:DP:GQ:PL	0/1:66,54:120:99:1325,0,1666	18	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:42,20:82:23:50,0,510	8	0	11	0
chr17	74762108	74762108	C	T	exonic	SLC9A3R1	.	nonsynonymous SNV	SLC9A3R1:NM_004252:exon2:c.C538T:p.R180W	Nephrolithiasis/osteoporosis, hypophosphatemic, 2, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	.	1617083	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.350	0.0614219401805	0.0002	.	0.0002	0	0	0	0	0.0003	0	6.057e-05	0.0001746	27	154602	rs200609318	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0001	0.0023	0.0003	1.873e-05	0.0014	0.0002	0.0003	0.0002	0.0001	0.0001	6.422e-05	0.0002	0.0004	9.736e-05	8.251e-05	9.048e-05	7.012e-05	2.405e-05	0	0.0001	0.0012	0.0002	0	0	0.0002	0.0005	0.0004	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999539	0.47451	D	2.475	0.71894	M	1.67	0.27331	T	-7.27	0.94404	D	0.902	0.90251	-0.8507	0.51919	T	0.172	0.51341	T	10	0.45346114	0.58843	T	0.061422	0.68326	D	0.350	0.67142	.	.	0.485846224565	0.48215	0.7290906878529809	0.72854	0.346594351139	0.36563	0.593844771385	0.52036	T	0.386009	0.74727	T	0.0160159	0.53842	T	0.059529	0.74213	D	0.308903372102969	0.25369	T	0.940306	0.77472	D	0.8540145	0.87633	0.839926	0.90833	0.8540145	0.87635	0.839926	0.90834	-10.567	0.77231	D	.	.	0.792	0.76901	P	.;.	.;.	4.570497	0.72107	25.8	0.99834669402334908	0.91628	0.88693	0.48742	D	AEFDBCI	0.891511	0.82754	D	0.163214898486031	0.49440	3.144334	0.091333018196903	0.44112	2.699255	0.999998285724709	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.688494	0.62686	0	0.562822	0.20929	0	.	.	5.14	4.16	0.48138	2.375000	0.43938	4.904000	0.45887	-0.218000	0.08083	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.1443:0.8557:0.0:0.0	14.946	0.70685	707	0.57054	PDZ domain|PDZ domain|PDZ domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	833.33	35	chr17	74762108	.	C	T	833.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.959;DP=754;ExcessHet=0;FS=5.067;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.17;ReadPosRankSum=-0.713;SOR=0.961	GT:AD:DP:GQ:PL	0/1:64,38:102:99:847,0,1568	18	0	1	0
chr17	74947158	74947158	G	A	exonic	OTOP3	.	nonsynonymous SNV	OTOP3:NM_001272005:exon6:c.G1249A:p.V417M,OTOP3:NM_178233:exon6:c.G1303A:p.V435M	.	427	1018	75	2	0	79	0.0373522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	.	0.0015	0.0061901	0.0060	0.0004	0.0020	0	0.0005	0.0021	0.0100	0.0331	0.0052134	806	154602	rs36036654	0.0029	0.0029	0.0020	0.0038	0.0305	0.0028	0.0028	0.0296	0.0292	0.0002	0.0019	0.0160	0.0002	0.0006	0.0175	0.0006	0.0045	0.0305	0.0020	0.0020	0.0013	0.0028	0.0306	0.0019	0.0018	0.0266	0.0251	0.0004	0	0.0017	0.0135	0.0004	0.0002	0.0102	0.0009	0.0024	0.0306	0.099	0.30656	T	.	.	.	1.0	0.90584	D	0.995	0.83170	D	0.000007	0.62929	D	0.000000	0.999656	0.48079	D	3.115	0.87836	M	1.8	0.25344	T	-0.87	0.23590	N	.	.	-0.7817	0.56206	T	0.167	0.50632	T	10	0.012928009	0.00276	T	.	.	.	0.325	0.64725	.	.	0.629528454764	0.62650	0.41167949801164166	0.41083	0.222252166983	0.24760	0.715541243553	0.69397	T	0.018344	0.14803	T	-0.331264	0.06016	T	-0.225617	0.52195	T	0.0528079158904391	0.05987	T	0.89491	0.63503	D	0.24908622	0.47901	0.29670504	0.55704	0.24908622	0.47901	0.29670504	0.55703	-7.699	0.59001	D	.	.	0.401	0.59628	A	.;.	.;.	4.544321	0.71454	25.7	0.9990039393200798	0.97199	0.96533	0.69615	D	AEFGBI	0.795704	0.72305	D	0.715737068723012	0.80662	7.344704	0.637523299539449	0.77683	6.727076	0.17361676551724	0.17771	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.54	4.54	0.55220	6.905000	0.75535	8.674000	0.78019	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.524000	0.29567	0.0878:0.0:0.9122:0.0	10.906	0.46288	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	0.013595	0.005051	0.009511	0.023392	0.000000	0.008621	0.009146	0.007576	0.05263	3488.83	45	chr17	74947158	.	G	A	3488.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.83;DP=912;ExcessHet=0.119;FS=4.199;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.232;SOR=0.489	GT:AD:DP:GQ:PL	0/1:62,72:134:99:1903,0,1564	17	0	2	0
chr17	74958918	74958918	A	C	exonic	HID1	.	nonsynonymous SNV	HID1:NM_030630:exon9:c.T1142G:p.F381C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.00537220591501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.166	0.30828	T	0.007	0.14184	B	0.014	0.16862	B	0.000009	0.62929	N	0.112112	0.990119	0.41090	D	0.72	0.18721	N	.	.	.	-3.85	0.72353	D	0.664	0.67304	-1.0630	0.11021	T	0.065	0.26983	T	9	0.39953652	0.55469	T	0.005372	0.13771	T	0.202	0.48754	0.411	0.44723	0.379707525713	0.37584	0.3817643355711356	0.38091	0.554039843367	0.52157	0.897931098938	0.96207	D	0.246144	0.61556	T	0.0152736	0.53744	T	-0.215837	0.53137	T	0.96418297290802	0.66881	D	0.987726	0.95813	D	0.24575427	0.47537	0.23562278	0.48812	0.24575427	0.47537	0.23562278	0.48811	-2.984	0.10010	T	.	.	0.259	0.49393	B	.	.	3.919719	0.57214	23.8	0.98920993171942695	0.48565	0.93922	0.59581	D	AEFDBCI	0.846029	0.76292	D	-0.246337261345278	0.31250	1.750378	-0.00185342016919043	0.39633	2.35283	0.98890309824667	0.31664	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.97	4.97	0.65419	5.856000	0.69262	11.018000	0.84925	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.898000	0.43474	0.849:0.0:0.0:0.1509	10.007	0.41133	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	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1758.33	35	chr17	74958918	.	A	C	1758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.173;DP=769;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.98;ReadPosRankSum=-0.177;SOR=0.645	GT:AD:DP:GQ:PL	0/1:40,70:110:99:1772,0,1017	18	0	1	0
chr17	75502046	75502046	C	T	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.G2782A:p.G928R,CASKIN2:NM_020753:exon18:c.G3028A:p.G1010R	.	401	1120	1	0	0	1	0.000446229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.032974698926	.	0.000599042	8.486e-05	0	0	0.0004	0	0	0	0.0004	8.41e-05	13	154602	rs78142683	0.0001	0.0001	9.266e-05	0.0001	0.0022	9.208e-05	8.673e-05	0.0018	0.0017	2.987e-05	6.709e-05	0	0.0022	0	0.0002	1.259e-05	6.626e-05	0.0005	5.916e-05	5.906e-05	3.858e-05	8.067e-05	0.0010	3.078e-05	2.211e-05	0.0004	0.0002	2.409e-05	0	0	0	0.0010	0	0	0	0	0.0006	0.021	0.49613	D	0.223	0.26798	T	0.58	0.38813	P	0.056	0.26147	B	0.000308	0.45977	D	0.000000	0.639892	0.30625	N	1.1	0.28011	L	-0.77	0.73523	T	0.2	0.04861	N	0.303	0.43514	-0.7683	0.56951	T	0.183	0.53163	T	10	0.03630793	0.01923	T	0.032975	0.54655	D	0.234	0.53644	0.392	0.41606	0.757121291469	0.75491	0.13621485160347033	0.13545	0.657602075448	0.58704	0.779781341553	0.78894	T	0.020351	0.16039	T	-0.164165	0.26122	T	-0.167612	0.57662	T	0.0863275370968207	0.10777	T	0.837416	0.50983	T	0.07660809	0.17335	0.0867658	0.20125	0.07660809	0.17334	0.0867658	0.20124	-3.45	0.15738	T	.	.	0.322	0.70990	B	.;.	.;.	3.527050	0.49472	22.8	0.99905042945429701	0.97576	0.25658	0.22764	N	AEFDGBCI	0.171124	0.29807	N	-0.0548534745348023	0.39385	2.321819	0.0513386812325498	0.42136	2.543447	0.999069115457291	0.38343	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.17	5.17	0.70848	1.528000	0.35592	7.463000	0.59074	0.549000	0.26987	0.895000	0.31310	1.000000	0.68203	0.614000	0.31742	0.0:0.8348:0.0:0.1652	9.048	0.35518	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1185.33	39	chr17	75502046	.	C	T	1185.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.39;DP=991;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.75;ReadPosRankSum=1.62;SOR=0.697	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1199,0,1218	18	0	1	0
chr17	75503041	75503041	G	A	exonic	CASKIN2	.	nonsynonymous SNV	CASKIN2:NM_001142643:exon17:c.C1787T:p.A596V,CASKIN2:NM_020753:exon18:c.C2033T:p.A678V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0455701437261	.	.	7.267e-05	0	0	0	0	0.0001	0	6.862e-05	4.53e-05	7	154602	rs766391635	3.439e-05	3.694e-05	2.737e-05	4.148e-05	0.0004	2.645e-05	2.388e-05	7.162e-05	5.509e-05	2.991e-05	4.523e-05	0	0	0	0.0004	3.061e-05	0	0.0001	1.972e-05	1.97e-05	2.571e-05	1.346e-05	4.413e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.146	0.25355	T	0.323	0.27414	T	0.984	0.60733	D	0.241	0.38645	B	0.000294	0.46274	D	0.000000	0.806154	0.29980	N	0.895	0.22405	L	-0.51	0.70597	T	-0.98	0.25986	N	0.308	0.38335	-0.5706	0.65990	T	0.223	0.58652	T	10	0.18569216	0.34001	T	0.04557	0.62042	D	0.183	0.45592	.	.	0.607284945126	0.60413	0.2798865944295119	0.27901	0.520452191899	0.49844	0.677803635597	0.63953	T	0.017199	0.14076	T	-0.123038	0.32627	T	-0.231121	0.51663	T	0.123616591095924	0.14779	T	0.882412	0.61778	D	0.07793541	0.17718	0.10632993	0.25578	0.07793541	0.17718	0.10632993	0.25577	-7.049	0.54696	T	.	.	0.109	0.29311	B	.;.	.;.	5.331810	0.89478	30	0.99898125703285456	0.97048	0.96057	0.67338	D	AEFDBI	0.461793	0.51141	N	0.282599226527313	0.55266	3.690778	0.324510626080226	0.56985	3.862759	0.944422311281029	0.27614	0.706548	0.73137	0	0.626922	0.53725	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	1.392000	0.34095	11.609000	0.93532	0.676000	0.76740	0.957000	0.33433	1.000000	0.68203	0.903000	0.43903	0.0:0.1509:0.8491:0.0	14.037	0.64174	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	764.33	35	chr17	75503041	.	G	A	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.99;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=-1.456;SOR=0.668	GT:AD:DP:GQ:PL	0/1:36,26:62:99:778,0,884	18	0	1	0
chr17	79784647	79784647	G	A	exonic	CBX2	.	nonsynonymous SNV	CBX2:NM_005189:exon5:c.G1204A:p.A402T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00646425576035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.055e-06	2.052e-06	1.363e-06	2.753e-06	4.476e-05	5.5e-07	1.5e-07	7.42e-06	2.78e-06	0	4.476e-05	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	0.466	0.12386	T	0.002	0.09854	B	0.002	0.06944	B	0.000002	0.00162	N	6.274620	1	0.08975	N	1.085	0.27262	L	.	.	.	-0.04	0.07590	N	0.021	0.00339	-1.0585	0.12134	T	0.041	0.17530	T	9	0.04281363	0.03067	T	0.006464	0.17014	T	0.048	0.13305	0.121	0.02793	0.134007934775	0.12933	0.10495512667107028	0.10425	0.0374402184528	0.03967	0.265530645847	0.05567	T	0.04453	0.26845	T	-0.397688	0.02397	T	-0.726163	0.04503	T	0.0596213873997642	0.07109	T	0.467953	0.13790	T	0.037874967	0.04938	0.043632746	0.05473	0.037874967	0.04938	0.043632746	0.05473	-3.756	0.20149	T	0.10698885192152713	0.08659	0.060	0.00964	B	.	.	0.012208	0.04366	1.123	0.77422605091797969	0.11870	0.05124	0.10930	N	AEFBHCI	0.046920	0.07844	N	-1.08608394471586	0.06899	0.3189194	-1.0775224256041	0.08144	0.3991338	0.993572697400979	0.33269	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.17	0.059	0.13646	-0.151000	0.10160	-0.264000	0.10402	0.672000	0.70159	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2795:0.1252:0.4414:0.1538	1.401	0.02135	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1055.33	36	chr17	79784647	.	G	A	1055.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.299;DP=822;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.71;ReadPosRankSum=0.526;SOR=0.917	GT:AD:DP:GQ:PL	0/1:40,37:77:99:1069,0,1042	18	0	1	0
chr17	80095398	80095398	G	A	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_017950:exon18:c.G2968A:p.D990N	Ciliary dyskinesia, primary, 15	0	1515	7	0	0	7	0.00230491	.	.	.	272779	Primary_ciliary_dyskinesia_15|not_provided|CCDC40-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.087	0.032371044787	0.0002	0.000798722	0.0016	0	0	0.0031	0.0035	0.0018	0.0034	0.0012	0.0013454	208	154602	rs200958035	0.0007	0.0007	0.0006	0.0008	0.0044	0.0006	0.0006	0.0039	0.0036	0	4.472e-05	0	0.0044	0.0033	0.0005	0.0004	0.0011	0.0011	0.0007	0.0007	0.0005	0.0009	0.0039	0.0006	0.0006	0.0026	0.0021	2.404e-05	0	0.0002	0	0.0039	0.0028	0	0.0007	0.0009	0.0017	0.12	0.27904	T	0.129	0.34837	T	0.088	0.25022	B	0.011	0.15521	B	.	.	.	.	0.993358	0.23727	N	0.795	0.19620	N	0.82	0.48142	T	-1.96	0.45404	N	0.162	0.17002	-1.0345	0.19014	T	0.101	0.37341	T	9	0.011015624	0.00243	T	0.032371	0.54212	D	0.087	0.25287	.	.	0.272639205421	0.26888	0.14218203363090426	0.14141	0.172173562126	0.19387	0.302955031395	0.10843	T	0.14964	0.48874	T	-0.643992	0.00079	T	-0.701505	0.05743	T	0.024312914011324	0.01184	T	0.593441	0.21910	T	0.0478802	0.08258	0.04951018	0.07582	0.039844368	0.05576	0.06108012	0.11737	-7.434	0.57144	T	0.3481705408692286	0.44556	0.103	0.18497	B	.	.	1.858462	0.23606	16.08	0.98623313527861522	0.43812	0.70216	0.34499	D	AEFDBI	0.077753	0.15672	N	-0.32280877953576	0.28284	1.558766	-0.234703838419107	0.30303	1.704961	0.00454933878732479	0.10609	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.586402	0.36253	0	.	.	5.38	3.27	0.36580	1.795000	0.38418	4.092000	0.41811	-0.123000	0.13640	0.976000	0.34826	0.998000	0.33993	0.001000	0.02609	0.0711:0.1259:0.803:0.0	11.674	0.50681	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	.	.	.	.	.	.	.	.	0.02632	1452.33	36	chr17	80095398	.	G	A	1452.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.58;DP=799;ExcessHet=0;FS=1.294;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=0.789;SOR=0.624	GT:AD:DP:GQ:PL	0/1:89,63:152:99:1466,0,1988	18	0	1	0
chr17	80181532	80181532	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_001257970:exon2:c.C94T:p.R32C,CARD14:NM_024110:exon2:c.C94T:p.R32C,CARD14:NM_001366385:exon5:c.C94T:p.R32C	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	646917	Pityriasis_rubra_pilaris|Psoriasis_2	MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0189460883746	.	.	.	.	.	.	.	.	.	.	.	.	.	rs895639722	2.652e-05	2.599e-05	2.491e-05	2.817e-05	0.0002	1.972e-05	1.726e-05	0.0001	9.925e-05	0	0	0	0	0	0	1.912e-05	1.687e-05	0.0002	6.571e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.002	0.83351	D	0.999	0.77913	D	0.828	0.59497	P	0.052824	0.22861	N	0.441828	0.803074	0.34537	D	2.475	0.71894	M	-1.65	0.82625	D	-6.45	0.91395	D	0.107	0.10056	-0.9401	0.42600	T	0.124	0.42799	T	10	0.3263861	0.49936	T	0.018946	0.41175	T	0.166	0.42578	.	.	0.964000070571	0.96361	0.8672964729929495	0.86694	0.213140638837	0.23823	0.377863109112	0.21953	T	0.153835	0.49485	T	-0.0976007	0.36822	T	-0.18759	0.55816	T	0.395481049603379	0.28772	T	0.730127	0.34815	T	0.42740354	0.62582	0.35765487	0.61255	0.42740354	0.62582	0.35765487	0.61255	-7.522	0.58262	D	0.23047126753171346	0.31183	0.104	0.22464	B	.;.;.;.;.;.	.;.;.;.;.;.	1.635100	0.20874	14.95	0.9981978020164699	0.90238	0.10258	0.15814	N	AEFDBI	0.137103	0.25798	N	-0.0500148390464133	0.39602	2.33802	-0.238404957083861	0.30173	1.697	0.00136184533328445	0.08479	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.26	3.27	0.36580	-0.314000	0.08132	0.014000	0.13486	0.599000	0.40250	0.000000	0.06391	0.257000	0.23957	0.015000	0.10482	0.1716:0.8284:0.0:0.0	12.268	0.54006	884	0.28482	.;CARD domain|CARD domain;CARD domain|CARD domain;CARD domain|CARD domain;.;CARD domain|CARD domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1338.33	47	chr17	80181532	.	C	T	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.53;DP=790;ExcessHet=0;FS=4.772;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.32;SOR=0.378	GT:AD:DP:GQ:PL	0/1:50,56:106:99:1352,0,1109	18	0	1	0
chr17	81460363	81460363	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon24:c.G5992A:p.V1998I,BAHCC1:NM_001291324:exon25:c.G6085A:p.V2029I	.	432	1040	47	3	0	53	0.0248476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0090	0.00998403	0.0159	0.0063	0.0067	0.0002	0.0063	0.0143	0.0145	0.0410	0.0097153	1502	154602	rs34680524	0.0099	0.0099	0.0085	0.0112	0.0303	0.0097	0.0096	0.0292	0.0288	0.0041	0.0043	0.0037	0.0001	0.0026	0.0162	0.0093	0.0100	0.0303	0.0081	0.0081	0.0079	0.0083	0.0299	0.0077	0.0076	0.0259	0.0244	0.0054	0	0.0074	0.0052	0	0.0036	0.0136	0.0099	0.0085	0.0299	1.0	0.00964	T	1.0	0.01155	T	0.004	0.12183	B	0.002	0.06944	B	0.000449	0.44317	N	0.091404	0.999131	0.21587	N	.	.	.	1.26	0.36330	T	0.72	0.02099	N	0.139	0.14054	-0.9544	0.40203	T	0.010	0.03856	T	10	0.007214874	0.00164	T	.	.	.	0.103	0.29403	.	.	0.0138822411134	0.00435	0.1990185493906276	0.19818	0.0687072840253	0.07698	0.380222648382	0.22289	T	0.04827	0.27968	T	-0.542436	0.00324	T	-0.528263	0.19461	T	0.00198792404725697	0.00020	T	0.828317	0.49240	T	0.022924742	0.00991	0.050592054	0.07971	0.022924742	0.00991	0.050592054	0.07971	1.392	0.00091	T	.	.	0.063	0.01449	B	.;.	.;.	1.685483	0.21476	15.22	0.81057149420605201	0.13498	0.18993	0.20485	N	AEFGBCI	0.057178	0.10630	N	-0.845303115850774	0.12166	0.5913537	-0.575123179589667	0.20142	1.083889	0.998976047960637	0.38110	0.646311	0.45356	0	0.588066	0.40923	0	0.603688	0.36954	0	0.699875	0.68795	0	.	.	4.6	2.3	0.27735	5.509000	0.66731	7.966000	0.76021	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.8036:0.0:0.1964:0.0	7.368	0.25959	.	.	.;.	PDE6G	Whole_Blood	.	.	rs34680524	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.011089	0.005051	0.008152	0.002924	0.000000	0.000000	0.012195	0.034091	0.02632	1405.33	33	chr17	81460363	.	G	A	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.36;DP=839;ExcessHet=0;FS=4.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=0.002;SOR=0.975	GT:AD:DP:GQ:PL	0/1:82,56:138:99:1419,0,1956	18	0	1	0
chr17	81902740	81902740	G	A	exonic	NPB	.	nonsynonymous SNV	NPB:NM_148896:exon2:c.G370A:p.A124T	.	389	1126	7	0	0	7	0.00309872	.	.	.	2341987	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0152133224257	0.0005	0.000199681	0.0007	0	0.0002	0	0.0008	0.0009	0.0013	0.0012	0.0005757	89	154602	rs202156046	0.0006	0.0006	0.0006	0.0007	0.0015	0.0006	0.0006	0.0013	0.0012	9.108e-05	0.0003	7.708e-05	0	0.0008	0.0014	0.0006	0.0007	0.0015	0.0004	0.0004	0.0005	0.0004	0.0008	0.0004	0.0003	0.0006	0.0006	4.812e-05	0.0011	0.0001	0	0	0.0005	0	0.0008	0	0.0006	0.293	0.14843	T	0.496	0.11335	T	0.611	0.39680	P	0.131	0.32951	B	0.443767	0.12594	U	0.733784	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.54	0.16598	N	0.075	0.09207	-1.0221	0.23031	T	0.028	0.11795	T	9	0.010819614	0.00239	T	0.015213	0.35810	T	0.030	0.07022	.	.	0.0138822411134	0.00435	0.12886301960281968	0.12811	0.270606182261	0.29581	0.458760738373	0.33140	T	0.01405	0.45898	T	-0.582215	0.00187	T	-0.654639	0.08632	T	0.0163782825275859	0.00406	T	0.275672	0.04719	T	0.030263998	0.02661	0.04078327	0.04486	0.030263998	0.02660	0.04078327	0.04486	-4.384	0.29339	T	.	.	0.112	0.22024	B	.;.	.;.	-1.055656	0.00696	0.020	0.85800046621260073	0.16120	0.05472	0.11354	N	AEFDBHCI	0.068458	0.13505	N	-1.25286918540939	0.04262	0.1920047	-1.3856289121352	0.03404	0.1587379	0.99999971656625	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.64067	0.45733	0	0.664235	0.64389	0	.	.	4.13	-3.63	0.04238	-2.744000	0.00867	-3.935000	0.02442	-0.132000	0.13132	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2066:0.2835:0.3843:0.1256	2.394	0.04118	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.000000	0.008772	0.000000	0.008772	0.000000	0.011364	0.02632	1405.33	34	chr17	81902740	.	G	A	1405.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.649;DP=736;ExcessHet=0;FS=3.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=-0.212;SOR=0.408	GT:AD:DP:GQ:PL	0/1:51,57:108:99:1419,0,1255	18	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L,CSNK1D:NM_001893:exon4:c.C402G:p.F134L,CSNK1D:NM_139062:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2188	1224.92	33	chr17	82253179	.	G	C	1224.92	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-4.011;DP=3300;ExcessHet=2.9153;FS=178.806;InbreedingCoeff=-0.3232;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.84;ReadPosRankSum=0.682;SOR=12.631	GT:AD:DP:GQ:PL	0/1:129,47:186:99:198,0,1997	9	0	7	3
chr17	82722842	82722842	C	T	exonic	FN3KRP	.	nonsynonymous SNV	FN3KRP:NM_024619:exon4:c.C424T:p.R142W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	0.051683125034	7.7e-05	.	0.0001	9.615e-05	0.0010	0	0	1.501e-05	0	0	9.06e-05	14	154602	rs144422621	3.078e-05	3.215e-05	3.403e-05	2.75e-05	0.0005	2.347e-05	2.095e-05	0.0004	0.0003	2.988e-05	0.0005	0	2.519e-05	3.744e-05	0	1.079e-05	1.656e-05	4.637e-05	5.258e-05	5.254e-05	1.285e-05	9.418e-05	0.0002	2.558e-05	1.831e-05	2.262e-05	9.08e-06	4.829e-05	0	0.0001	0	0	0	0	4.41e-05	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.989	0.62824	D	0.773	0.56974	P	0.000149	0.49130	D	0.209202	0.999972	0.18612	N	2.225	0.63025	M	0.86	0.46777	T	-3.91	0.73042	D	0.409	0.44952	-0.8095	0.54581	T	0.208	0.56744	T	10	0.26493722	0.43985	T	0.051683	0.64763	D	0.242	0.54781	.	.	0.623931718627	0.62087	0.6492294018306056	0.64858	0.350602586544	0.36905	0.261113911867	0.05024	T	0.070549	0.33988	T	-0.330088	0.06105	T	-0.343175	0.39986	T	0.479446351528168	0.31877	T	0.683132	0.33655	T	0.37710714	0.59106	0.3637668	0.61757	0.37710714	0.59107	0.3637668	0.61757	-10.622	0.77545	D	.	.	0.134	0.38372	B	.;.	.;.	4.276500	0.65104	24.8	0.99911007033495369	0.98022	0.95921	0.66730	D	AEFGBHI	0.774933	0.70849	D	0.319321398991521	0.57139	3.880376	0.276094213075394	0.54148	3.580617	0.313125495993383	0.19308	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	4.85	0.62375	1.012000	0.29527	3.249000	0.37015	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.146000	0.20164	0.3982:0.6018:0.0:0.0	13.650	0.61781	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1353.33	33	chr17	82722842	.	C	T	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.5;DP=770;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=0.482;SOR=0.732	GT:AD:DP:GQ:PL	0/1:55,54:109:99:1367,0,1305	18	0	1	0
chr18	8705698	8705698	C	T	exonic	MTCL1	.	nonsynonymous SNV	MTCL1:NM_001378205:exon1:c.C38T:p.P13L,MTCL1:NM_001378206:exon1:c.C38T:p.P13L,MTCL1:NM_001378207:exon1:c.C38T:p.P13L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0289563055501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.901e-06	6.157e-06	1.801e-06	2.013e-06	0.0003	3.2e-07	1.2e-07	.	.	0	0	0	0	0	0.0003	1.11e-06	0	0	6.69e-06	6.574e-06	1.305e-05	0	2.426e-05	0	0	.	.	2.426e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	0.990101	0.24214	N	1.245	0.31408	L	2.53	0.14038	T	.	.	.	0.091	0.06990	.	.	.	.	.	.	.	0.085915774	0.14551	T	0.028956	0.51551	D	.	.	.	.	0.366085729538	0.36220	.	.	.	.	.	.	.	0.029215	0.20984	T	-0.255527	0.13429	T	-0.604824	0.12408	T	.	.	.	0.478252	0.14398	T	0.07905559	0.18039	0.17689045	0.40254	0.07905559	0.18039	0.17689045	0.40253	-4.363	0.29051	T	.	.	0.108	0.20391	B	.	.	2.082527	0.26487	17.13	0.97416563048135385	0.33850	0.03021	0.07899	N	ALL	0.033856	0.04091	N	.	.	.	.	.	.	0.99999997603466	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.606884	0.38211	0	0.492483	0.08430	1	.	.	2.77	0.735	0.17449	-0.765000	0.04836	0.747000	0.21206	0.399000	0.20540	0.000000	0.06391	0.027000	0.21108	0.321000	0.24994	0.2074:0.6652:0.0:0.1274	5.043	0.13808	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	460.33	53	chr18	8705698	.	C	T	460.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=-0.014;SOR=0.886	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,18:39:99:1|0:8705681_C_T:474,0,807:8705681	18	0	1	0
chr18	10550156	10550156	C	T	exonic	NAPG	.	nonsynonymous SNV	NAPG:NM_003826:exon12:c.C875T:p.P292L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0141104146513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.333	0.18395	T	0.009	0.15093	B	0.006	0.12133	B	0.764526	0.06560	N	1.096950	1	0.08975	N	0.69	0.16971	N	1.92	0.23082	T	-1.84	0.43149	N	0.14	0.13911	-0.9890	0.32853	T	0.058	0.24502	T	10	0.05089584	0.04889	T	0.01411	0.34004	T	0.085	0.24743	0.213	0.13210	0.292423486923	0.28857	0.20745575924353835	0.20661	0.171535694422	0.19320	0.31774225831	0.13079	T	0.042849	0.26316	T	-0.306864	0.08026	T	-0.678565	0.07072	T	0.155296669510038	0.17517	T	0.806719	0.45571	T	0.049749304	0.08882	0.06254994	0.12253	0.049749304	0.08881	0.06254994	0.12253	-5.643	0.43183	T	.	.	0.079	0.07083	B	.	.	1.556401	0.19942	14.51	0.92825632913245326	0.22356	0.56973	0.30255	D	AEFDGBI	0.107893	0.21481	N	-0.736455173832711	0.15003	0.7523462	-0.661235949719315	0.17933	0.9557947	0.953174034619625	0.28058	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	2.33	0.27981	0.648000	0.24515	4.966000	0.46371	0.599000	0.40250	0.016000	0.19238	0.679000	0.26109	0.570000	0.30651	0.0:0.5845:0.4155:0.0	17.670	0.88118	840	0.37365	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1338.33	34	chr18	10550156	.	C	T	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=775;ExcessHet=0;FS=1.352;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=1.2;SOR=0.617	GT:AD:DP:GQ:PL	0/1:81,59:140:99:1352,0,1806	18	0	1	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3348.45	99	chr18	31541297	.	G	A	3348.45	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.192;DP=1152;ExcessHet=25.4433;FS=375.107;InbreedingCoeff=-0.7874;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=3.6;ReadPosRankSum=1.09;SOR=12.356	GT:AD:DP:GQ:PL	0/1:24,22:56:99:128,0,387	2	0	16	1
chr18	35245318	35245318	G	A	exonic	ZNF397	.	nonsynonymous SNV	ZNF397:NM_001135178:exon4:c.G613A:p.G205R,ZNF397:NM_032347:exon4:c.G613A:p.G205R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00374509265083	.	.	3.61e-05	0	0	0	0	3.303e-05	0	0.0001	2.59e-05	4	154602	rs771727180	9.586e-06	9.577e-06	4.086e-06	1.515e-05	8.14e-05	5.56e-06	4.35e-06	3.775e-05	2.668e-05	2.99e-05	0	0	0	0	0	4.5e-06	1.657e-05	8.14e-05	6.567e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.327	0.13262	T	0.516	0.10607	T	0.001	0.12996	B	0.001	0.11217	B	0.297523	0.14657	N	0.507228	0.999998	0.22008	N	1.385	0.34509	L	3.32	0.06214	T	0.44	0.15986	N	0.053	0.04913	-0.9311	0.43977	T	0.012	0.04605	T	10	0.03842622	0.02260	T	0.003745	0.08682	T	0.023	0.04649	0.254	0.19378	0.0884992946249	0.08302	0.11167164576779066	0.11096	0.177570540165	0.19976	0.22945459187	0.01928	T	0.017366	0.14179	T	-0.45424	0.01066	T	-0.708114	0.05394	T	0.0330106584098204	0.02473	T	0.616838	0.30396	T	0.031038122	0.02873	0.04221302	0.04976	0.031038122	0.02873	0.04221302	0.04976	-4.381	0.29298	T	.	.	0.098	0.16843	B	.;.	.;.	1.581301	0.20234	14.65	0.55503892279651945	0.05356	0.20818	0.21180	N	AEFBI	0.062570	0.12037	N	-0.888314433262785	0.11120	0.5349288	-0.867893399137398	0.12858	0.6638616	0.995350723255426	0.34082	0.67177	0.52595	0	0.653731	0.59785	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	3.56	1.66	0.23081	1.976000	0.40202	1.976000	0.30011	0.606000	0.46413	0.124000	0.23245	0.006000	0.19429	0.982000	0.59238	0.2605:0.0:0.7395:0.0	6.926	0.23598	866	0.32446	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1147.33	37	chr18	35245318	.	G	A	1147.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-0.661;SOR=0.752	GT:AD:DP:GQ:PL	0/1:61,39:100:99:1161,0,1702	18	0	1	0
chr18	35977527	35977527	C	T	exonic	C18orf21	.	nonsynonymous SNV	C18orf21:NM_001201474:exon3:c.C154T:p.P52S,C18orf21:NM_001201475:exon3:c.C154T:p.P52S,C18orf21:NM_031446:exon4:c.C418T:p.P140S	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0360640217746	0.0008	0.000798722	0.0004	0.0038	0.0003	0	0	0	0	0	0.0003234	50	154602	rs148863953	9.919e-05	0.0001	0.0001	8.388e-05	0.0036	8.578e-05	8.047e-05	0.0031	0.0029	0.0036	0.0002	0	0	0	0	2.698e-06	0.0002	0	0.0010	0.0010	0.0008	0.0011	0.0033	0.0008	0.0008	0.0029	0.0027	0.0033	0	0.0003	0	0	0	0	1.47e-05	0.0014	0	0.011	0.55530	D	0.022	0.57587	D	0.983	0.60381	D	0.808	0.58514	P	0.000001	0.84330	D	0.056055	0.999553	0.20991	N	2.7	0.79018	M	0.31	0.59449	T	-6.39	0.91141	D	0.29	0.37093	-0.6697	0.61842	T	0.312	0.68237	T	10	0.0075356364	0.00171	T	0.036064	0.56753	D	0.170	0.43303	.	.	0.462809833587	0.45907	0.5279176738916032	0.52715	0.528953778079	0.50459	.	.	.	0.273109	0.65198	T	-0.354214	0.04468	T	-0.282101	0.46588	T	0.125690409923586	0.14978	T	0.760024	0.38453	T	0.28671575	0.51686	0.2792887	0.53896	0.28671575	0.51686	0.2792887	0.53895	-5.21	0.39043	T	.	.	0.113	0.24700	B	.;.;.;.;.	.;.;.;.;.	2.980231	0.39752	21.0	0.99578836371827351	0.72861	0.59935	0.31053	D	AEFBI	0.118295	0.23137	N	-0.0906140800922053	0.37802	2.20469	-0.261630785578034	0.29374	1.645137	0.998818843764292	0.37733	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.52	3.7	0.41607	2.193000	0.42291	1.275000	0.25315	-0.224000	0.07868	0.902000	0.31475	0.339000	0.24413	0.058000	0.15825	0.1619:0.6823:0.1558:0.0	9.45	0.37885	958	0.09170	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1602.33	41	chr18	35977527	.	C	T	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.996;DP=803;ExcessHet=0;FS=2.082;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=-1.21;SOR=0.879	GT:AD:DP:GQ:PL	0/1:74,72:146:99:1616,0,1818	18	0	1	0
chr18	46477188	46477188	C	T	exonic	LOXHD1	.	nonsynonymous SNV	LOXHD1:NM_001145472:exon24:c.G3340A:p.G1114R	Deafness, autosomal recessive 77, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	176685	not_specified|LOXHD1-related_disorder|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_77	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013119,MedGen:C2746083,OMIM:613079,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.011	0.0506641312913	.	0.000798722	0.0018	0.0005	0.0024	0	0	0.0039	0.0041	0.0004	0.0004722	73	154602	rs142931455	0.0014	0.0012	0.0014	0.0014	0.0093	0.0013	0.0013	0.0070	0.0062	0.0008	0.0014	0.0145	0	2.041e-05	0.0093	0.0009	0.0033	0.0003	0.0011	0.0011	0.0012	0.0011	0.0011	0.0010	0.0010	0.0008	0.0007	0.0006	0	0.0011	0.0156	0	0	0.0204	0.0009	0.0052	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.89	0.23688	T	0.51	0.02898	N	0.216	0.24135	-1.0099	0.26949	T	0.057	0.24055	T	6	0.0057053566	0.00127	T	0.050664	0.64337	D	0.011	0.01250	0.429	0.47680	0.107399877778	0.10242	.	.	.	.	.	.	.	.	.	.	-0.489759	0.00652	T	-0.516814	0.20618	T	0.0173723648652726	0.00475	T	0.530647	0.17608	T	.	.	.	.	.	.	.	.	-3.347	0.14351	T	.	.	0.186	0.40164	B	.	.	0.621277	0.09899	6.657	0.87497148219354581	0.17269	0.04418	0.10009	N	AEFBI	0.068651	0.13552	N	-0.451799526089565	0.23679	1.273274	-0.589853790645029	0.19757	1.061453	0.0759143956702253	0.15711	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.31	1.34	0.21018	0.008000	0.13095	-0.479000	0.08931	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.173:0.5481:0.0:0.2789	3.675	0.07822	919	0.19497	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014388	0.042553	0.000000	0.009009	0.000000	0.000000	0.011628	0.011905	0.02632	1813.33	35	chr18	46477188	.	C	T	1813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.26;DP=745;ExcessHet=0;FS=2.466;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.63;ReadPosRankSum=1.18;SOR=0.487	GT:AD:DP:GQ:PL	0/1:43,73:116:99:1827,0,1007	18	0	1	0
chr18	50270029	50270029	A	C	exonic	MBD1	.	nonsynonymous SNV	MBD1:NM_001204142:exon14:c.T1635G:p.I545M	.	411	1080	30	1	0	32	0.0145985	.	.	.	3185111	not_provided|MBD1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.116	.	0.0058	0.00279553	0.0080	0.0012	0.0020	0	0.0049	0.0105	0.0047	0.0112	0.0073996	1144	154602	rs183864846	0.0086	0.0085	0.0084	0.0087	0.0153	0.0084	0.0084	0.0127	0.0118	0.0016	0.0023	0.0163	0	0.0066	0.0153	0.0091	0.0074	0.0103	0.0064	0.0064	0.0070	0.0059	0.0097	0.0061	0.0060	0.0091	0.0088	0.0018	0.0374	0.0022	0.0196	0	0.0054	0.0034	0.0097	0.0080	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.102	0.25827	B	0.022	0.19653	B	.	.	.	.	1	0.18198	N	.	.	.	-3.8	0.95696	D	-0.19	0.09965	N	0.191	0.20925	-0.0759	0.80644	T	0.631	0.87078	D	8	0.0028661191	0.00046	T	.	.	.	0.116	0.32463	.	.	0.33174030287	0.32783	.	.	.	.	.	.	.	.	.	.	-0.382911	0.02986	T	-0.308521	0.43817	T	0.0105126473744262	0.00146	T	0.313569	0.06164	T	.	.	.	.	.	.	.	.	-3.092	0.11205	T	.	.	0.166	0.36535	B	.	.	0.307725	0.06832	3.357	0.86566512424548925	0.16622	0.08186	0.14147	N	AEDBCI	0.045029	0.07317	N	-0.740149739767171	0.14903	0.7463552	-0.787896569141984	0.14791	0.7747388	0.999682353112689	0.41756	0.67177	0.52595	0	0.702456	0.74545	0	0.670488	0.60580	0	0.636168	0.56350	0	.	.	4.03	1.44	0.21647	-0.712000	0.05116	-0.187000	0.11075	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.870000	0.41412	0.5301:0.2952:0.0:0.1746	4.618	0.11824	894	0.26265	.	.	.	.	.	.	Likely benign	0	0	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	0.009326	0.010101	0.008152	0.003497	0.050000	0.008621	0.009146	0.015152	0.07895	2949.79	33	chr18	50270029	.	A	C	2949.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.077;DP=803;ExcessHet=0.3672;FS=1.567;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=0.785;SOR=0.575	GT:AD:DP:GQ:PL	0/1:43,32:75:99:665,0,1075	16	0	3	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	.	.	.	.	.	.	.	.	0.09375	688.39	143	chr18	51177112	.	A	G	688.39	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.641;DP=1650;ExcessHet=0.3672;FS=98.343;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=1.16;SOR=8.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,26:162:99:0|1:51177112_A_G:264,0,5399:51177112	13	0	3	3
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	.	.	.	.	.	.	.	.	0.05882	520.39	133	chr18	51177115	.	C	T	520.39	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-3.841;DP=1532;ExcessHet=0.119;FS=152.544;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=2.03;SOR=7.701	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:138,26:164:99:0|1:51177112_A_G:258,0,5436:51177112	15	0	2	2
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	.	.	.	.	.	.	.	.	0.02632	204.33	44	chr18	51177121	.	C	G	204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.338;DP=895;ExcessHet=0;FS=77.099;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=2.37;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,24:160:99:0|1:51177112_A_G:218,0,5305:51177112	18	0	1	0
chr18	62524316	62524316	G	A	exonic	ZCCHC2	.	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.G892A:p.A298T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.110617543593	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1332562711	5.731e-06	6.156e-06	5.655e-06	5.809e-06	0.0002	2.47e-06	1.78e-06	9.169e-05	6.543e-05	0	0	0	0.0002	0	0	0	1.728e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.009	0.66756	D	0.296	0.32457	B	0.029	0.21540	B	0.318075	0.14318	N	0.608007	0.99986	0.20048	N	1.1	0.28011	L	1.83	0.24841	T	-0.88	0.23808	N	0.024	0.00445	-1.0654	0.10456	T	0.039	0.16677	T	10	0.06909722	0.09865	T	0.110618	0.78807	D	0.016	0.02506	0.258	0.20002	0.126345400529	0.12197	0.17266671097267489	0.17186	0.0422098634338	0.04548	0.715622127056	0.69409	T	0.00444	0.03847	T	-0.229187	0.16757	T	-0.566987	0.15726	T	0.081054282239399	0.10121	T	0.682032	0.29067	T	0.07738592	0.17562	0.097741425	0.23278	0.07738592	0.17561	0.097741425	0.23277	-4.36	0.29010	T	.	.	0.070	0.03443	B	.	.	1.309080	0.17120	12.97	0.99558935190301201	0.71645	0.17629	0.19919	N	AEFDBHCI	0.057332	0.10669	N	-0.571231268727836	0.19823	1.040489	-0.562220726541922	0.20481	1.103694	0.999999926668604	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	3.99	3.03	0.34070	-0.092000	0.11094	1.124000	0.24269	0.588000	0.31329	0.010000	0.18352	0.001000	0.17328	0.464000	0.28207	0.0:0.1845:0.8155:0.0	11.287	0.48462	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1167.33	52	chr18	62524316	.	G	A	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.157;DP=890;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-1.148;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,31:71:99:0|1:62524316_G_A:1181,0,1563:62524316	18	0	1	0
chr18	62524317	62524317	C	G	exonic	ZCCHC2	.	nonsynonymous SNV	ZCCHC2:NM_017742:exon1:c.C893G:p.A298G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.0697984945789	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403093524	5.016e-06	4.788e-06	2.828e-06	7.263e-06	4.638e-06	2.09e-06	1.34e-06	1.36e-06	9.9e-07	0	0	0	0	0	0	4.638e-06	3.455e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.09319	T	0.324	0.18903	T	0.0	0.02946	B	0.002	0.06944	B	0.318075	0.14318	N	0.608007	0.999999	0.08975	N	0.41	0.12415	N	1.85	0.24472	T	-0.41	0.14000	N	0.036	0.01068	-0.9993	0.30115	T	0.020	0.08360	T	10	0.03283316	0.01443	T	0.069798	0.70829	D	0.064	0.18567	0.273	0.22369	0.0611884634855	0.05136	0.17399773653769146	0.17319	0.0425505024233	0.04588	0.710065484047	0.68603	T	0.003313	0.02718	T	-0.315262	0.07293	T	-0.690629	0.06353	T	0.0273079713786635	0.01589	T	0.550145	0.18957	T	0.062438123	0.13042	0.04541954	0.06109	0.062438123	0.13042	0.04541954	0.06108	-3.261	0.13239	T	.	.	0.081	0.08033	B	.	.	1.297528	0.16988	12.89	0.88451782974165494	0.17987	0.04923	0.10678	N	AEFDBHCI	0.040654	0.06076	N	-1.09400738025068	0.06753	0.3117653	-1.0588636983764	0.08523	0.4194713	0.999998877027415	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	3.99	-0.261	0.12322	-0.120000	0.10633	-1.463000	0.05382	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.453000	0.27962	0.1396:0.3661:0.2392:0.2551	1.199	0.01766	988	0.01987	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1167.33	52	chr18	62524317	.	C	G	1167.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.059;DP=890;ExcessHet=0;FS=1.96;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.44;ReadPosRankSum=-1.569;SOR=0.594	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,31:71:99:0|1:62524316_G_A:1181,0,1563:62524316	18	0	1	0
chr18	63503640	63503640	A	C	exonic	SERPINB5	.	nonsynonymous SNV	SERPINB5:NM_002639:exon7:c.A1046C:p.N349T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.01585748343	.	.	3.295e-05	0	0	0	0	4.495e-05	0	6.056e-05	2.59e-05	4	154602	rs776808561	1.847e-05	1.847e-05	1.633e-05	2.063e-05	2.236e-05	1.265e-05	1.084e-05	1.377e-05	1.15e-05	0	2.236e-05	0	0	0	0	2.068e-05	3.312e-05	1.159e-05	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.655	0.04772	T	0.558	0.09175	T	0.0	0.02946	B	0.001	0.04355	B	0.166432	0.17505	N	0.626174	0.567491	0.32265	D	1.065	0.27018	L	-1.78	0.83737	D	-0.78	0.21644	N	0.108	0.09349	-0.8323	0.53152	T	0.298	0.66942	T	10	0.1668016	0.31137	T	0.015857	0.36823	T	0.107	0.30369	0.437	0.48993	0.78454557948	0.78255	0.18738970950636266	0.18656	0.0597400476325	0.06645	0.404658377171	0.25717	T	0.140628	0.47527	T	-0.213796	0.18848	T	-0.414428	0.31716	T	0.0492066673680743	0.05359	T	0.647535	0.25853	T	0.22233284	0.44831	0.14094666	0.33581	0.22233284	0.44831	0.14094666	0.33580	-4.151	0.26039	T	.	.	0.094	0.14339	B	.	.	2.058858	0.26176	17.03	0.77920504092673581	0.12079	0.61582	0.31526	D	AEFGBHCI	0.136023	0.25655	N	-0.429190584529161	0.24450	1.32032	-0.266553259659184	0.29207	1.634539	0.999668758474966	0.41534	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.74	3.35	0.37468	1.158000	0.31347	3.456000	0.38480	0.756000	0.94297	0.940000	0.32642	0.990000	0.31317	0.983000	0.59808	0.6657:0.1359:0.0687:0.1297	3.858	0.08493	868	0.31772	Serpin domain|Serpin, conserved site|Serpin domain|Maspin	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1552.33	162	chr18	63503640	.	A	C	1552.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.566;DP=2352;ExcessHet=0;FS=0.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.42;ReadPosRankSum=0.829;SOR=0.632	GT:AD:DP:GQ:PL	0/1:84,65:149:99:1566,0,2151	18	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,32:92:99:.:.:277,0,1502:.	1	0	18	0
chr18	70004205	70004205	A	C	exonic	RTTN	.	nonsynonymous SNV	RTTN:NM_001318520:exon48:c.T3891G:p.N1297K,RTTN:NM_173630:exon49:c.T6627G:p.N2209K	Microcephaly, short stature, and polymicrogyria with seizures, Autosomal recessive	8	1513	1	0	0	1	0.00033036	.	.	.	1457262	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	0.0121627333996	.	.	5.808e-05	0	0	0	0	4.503e-05	0	0.0002	4.53e-05	7	154602	rs756900126	5.679e-05	5.814e-05	4.221e-05	7.152e-05	0.0002	4.677e-05	4.302e-05	0.0002	0.0001	0	2.236e-05	0	0	1.873e-05	0	5.037e-05	8.28e-05	0.0002	5.256e-05	5.253e-05	5.139e-05	5.379e-05	0.0004	2.557e-05	1.83e-05	7.282e-05	3.026e-05	7.238e-05	0	0	0	0	0	0	4.41e-05	0	0.0004	.	.	.	.	.	.	0.649	0.40609	P	0.439	0.45685	B	0.009990	0.30113	N	0.317948	0.997112	0.81001	D	2.175	0.60977	M	.	.	.	.	.	.	.	.	-0.9909	0.32373	T	0.127	0.43360	T	10	0.10260302	0.18816	T	0.012163	0.30482	T	.	.	0.292	0.25400	.	.	0.1735269324114599	0.17272	.	.	0.469032347202	0.34547	T	0.043852	0.26632	T	-0.384719	0.02909	T	-0.490075	0.23384	T	0.0909675461964935	0.11333	T	0.684632	0.29288	T	0.10652167	0.25188	0.11871176	0.28655	0.10652167	0.25188	0.11871176	0.28654	-3.33	0.14126	T	.	.	0.211	0.43855	B	.;.	.;.	2.448173	0.31522	18.77	0.99687135590379372	0.79641	0.91773	0.54232	D	AEGBI	.	.	.	0.119127982976448	0.47356	2.962395	0.170188329285287	0.48221	3.041044	0.999996266522408	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.12	5.12	0.69459	1.861000	0.39078	1.509000	0.27011	0.691000	0.84096	1.000000	0.71638	0.995000	0.32472	0.984000	0.60418	1.0:0.0:0.0:0.0	14.585	0.67914	974	0.05496	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	779.33	33	chr18	70004205	.	A	C	779.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=701;ExcessHet=0;FS=3.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=1.3;SOR=1.076	GT:AD:DP:GQ:PL	0/1:47,34:81:99:793,0,1095	18	0	1	0
chr18	74634032	74634032	G	C	exonic	ZNF407	.	nonsynonymous SNV	ZNF407:NM_001146189:exon1:c.G3013C:p.V1005L,ZNF407:NM_001146190:exon1:c.G3013C:p.V1005L,ZNF407:NM_001384475:exon2:c.G3013C:p.V1005L,ZNF407:NM_017757:exon2:c.G3013C:p.V1005L	.	433	1076	13	0	0	13	0.00600462	.	.	.	741460	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00583239815728	0.0002	0.000798722	0.0008	0.0001	8.642e-05	0	0	0.0003	0	0.0048	0.0006986	108	154602	rs372408823	0.0005	0.0005	0.0003	0.0007	0.0054	0.0005	0.0005	0.0050	0.0048	2.987e-05	0.0003	0.0001	0	0	0.0049	0.0002	0.0006	0.0054	0.0003	0.0003	0.0002	0.0004	0.0037	0.0002	0.0002	0.0024	0.0020	2.405e-05	0	0.0007	0.0003	0.0002	0	0	0.0002	0.0014	0.0037	0.657	0.04742	T	0.941	0.02685	T	0.002	0.09854	B	0.002	0.06944	B	0.555176	0.05393	N	1.278580	1	0.08975	N	0.55	0.14455	N	3.45	0.09167	T	-0.28	0.11547	N	0.049	0.13911	-0.9782	0.35413	T	0.011	0.04227	T	10	0.0031027794	0.00052	T	0.005832	0.15161	T	0.011	0.01250	0.188	0.09776	0.240615537116	0.23683	0.046694548237496254	0.04612	0.0842569272004	0.09510	0.233957082033	0.02274	T	0.017139	0.14038	T	-0.661085	0.00062	T	-0.721151	0.04740	T	0.0186043193086753	0.00574	T	0.668933	0.27772	T	0.057556756	0.11469	0.039194945	0.03956	0.04672273	0.07867	0.046157453	0.06370	-3.192	0.12456	T	.	.	0.090	0.19235	B	.;.;.;.	.;.;.;.	0.209604	0.05935	2.373	0.22846985871122852	0.00938	0.15437	0.18911	N	AEFDGBCI	0.070638	0.14031	N	-1.43922325485938	0.02303	0.1015295	-1.40055732068641	0.03247	0.1510726	0.999979247121428	0.50053	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.89	0.365	0.15364	0.511000	0.22445	-0.110000	0.11840	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.3649:0.1907:0.3246:0.1198	1.462	0.02252	730	0.54327	.;.;.;.	.	.	.	.	.	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	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.003049	0.015152	0.05263	8374.83	232	chr18	74634032	.	G	C	8374.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.47;DP=2915;ExcessHet=0.119;FS=0.521;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=1.2;SOR=0.683	GT:AD:DP:GQ:PL	0/1:175,159:334:99:4187,0,4578	17	0	2	0
chr18	79899383	79899383	-	GCT	exonic	KCNG2	.	nonframeshift insertion	KCNG2:NM_012283:exon2:c.968_969insGCT:p.L327_F328insL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.773e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs762037910	3.534e-06	3.42e-06	1.402e-06	5.701e-06	3.661e-05	1.04e-06	7.5e-07	9.72e-06	4.7e-06	0	0	0	0	0	0	1.828e-06	0	3.661e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1679.29	34	chr18	79899383	.	G	GGCT	1679.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.046;DP=758;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.809;SOR=0.732	GT:AD:DP:GQ:PL	0/1:65,45:110:99:1693,0,2594	18	0	1	0
chr18	80038525	80038525	C	A	exonic	RBFA	.	nonsynonymous SNV	RBFA:NM_001171967:exon4:c.C399A:p.F133L,RBFA:NM_024805:exon4:c.C399A:p.F133L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.0165217299869	.	.	2.479e-05	0	0	0	0	3.006e-05	0	6.121e-05	1.94e-05	3	154602	rs201152461	3.559e-05	3.625e-05	2.451e-05	4.678e-05	0.0002	2.764e-05	2.502e-05	3.767e-05	2.663e-05	0	2.24e-05	0	0	0	0.0002	3.869e-05	0	8.12e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	6.541e-05	5.24e-06	2.45e-06	.	.	0	0.0022	6.541e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.108	0.37589	T	0.95	0.53885	P	0.86	0.61233	P	0.000020	0.62929	D	0.000000	0.999994	0.58761	D	2.16	0.60381	M	1.58	0.39990	T	-5.07	0.84882	D	0.814	0.81658	-0.7505	0.57909	T	0.192	0.54492	T	10	0.55742526	0.64597	D	0.016522	0.37815	T	0.181	0.45247	0.565	0.68633	0.612591404863	0.60947	0.38131097934556907	0.38046	0.56256237906	0.52724	0.643259882927	0.59028	T	0.102153	0.40959	T	-0.150818	0.28183	T	-0.272888	0.47528	T	0.426399628768404	0.29927	T	0.79742	0.45098	T	0.88067174	0.89722	0.7713098	0.86499	0.88067174	0.89723	0.7713098	0.86500	-8.9	0.77266	D	.	.	0.869	0.80814	P	.;.	.;.	3.488863	0.48758	22.7	0.99837746169155761	0.91886	0.68712	0.33906	D	AEFDGBCI	0.256959	0.37578	N	0.310887209509463	0.56706	3.835864	0.326658334847584	0.57111	3.87585	0.999997224412315	0.74766	0.787689	0.99735	0	0.723133	0.82719	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.145000	0.15978	2.612000	0.33583	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.993000	0.69303	0.0:0.9071:0.0:0.0929	10.783	0.45591	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	937.33	34	chr18	80038525	.	C	A	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.429;DP=758;ExcessHet=0;FS=2.048;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.78;ReadPosRankSum=0.505;SOR=1.022	GT:AD:DP:GQ:PL	0/1:28,40:68:99:951,0,658	18	0	1	0
chr19	1360934	1360934	C	T	exonic	PWWP3A	.	nonsynonymous SNV	PWWP3A:NM_001369792:exon4:c.C809T:p.T270I,PWWP3A:NM_001369793:exon4:c.C644T:p.T215I,PWWP3A:NM_001369789:exon5:c.C1013T:p.T338I,PWWP3A:NM_001369790:exon5:c.C1013T:p.T338I,PWWP3A:NM_001369794:exon5:c.C1013T:p.T338I,PWWP3A:NM_001382408:exon5:c.C1013T:p.T338I,PWWP3A:NM_001382409:exon5:c.C1013T:p.T338I,PWWP3A:NM_001382410:exon5:c.C1013T:p.T338I,PWWP3A:NM_032853:exon5:c.C1013T:p.T338I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0119547884915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.239e-05	1.231e-05	1.579e-05	8.887e-06	1.593e-05	7.55e-06	6.17e-06	9.7e-06	7.93e-06	0	0	0	0	0	0	1.593e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.059	0.48855	T	.	.	.	.	.	.	0.007352	0.01164	N	2.620390	1	0.08975	N	.	.	.	1.83	0.25182	T	-1.23	0.31170	N	0.037	0.02088	-1.0338	0.19236	T	0.037	0.16160	T	10	0.09977922	0.18128	T	0.011955	0.30076	T	0.023	0.04649	.	.	0.115124310173	0.11017	.	.	.	.	0.538062751293	0.44171	T	.	.	.	-0.330314	0.06088	T	-0.712249	0.05180	T	0.213499128818512	0.21135	T	0.439856	0.12136	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18372	B	.;.;.	.;.;.	-0.156183	0.03322	0.580	0.98402447658846404	0.41084	0.10025	0.15643	N	AEFDBHCIJ	0.064674	0.12573	N	-0.903807475544857	0.10752	0.5153796	-0.982266760703441	0.10184	0.5112918	0.999999999569092	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.26897	0.05253	2	0.678554	0.66404	0	.	.	3.48	1.22	0.20300	-0.917000	0.04134	-0.579000	0.08386	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4461:0.4287:0.1252	5.087	0.14022	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	.	.	.	.	.	.	.	.	0.02632	497.33	38	chr19	1360934	.	C	T	497.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.927;DP=746;ExcessHet=0;FS=2.31;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.88;ReadPosRankSum=-0.242;SOR=0.845	GT:AD:DP:GQ:PL	0/1:33,23:56:99:511,0,859	18	0	1	0
chr19	1818840	1818840	G	A	exonic	REXO1	.	nonsynonymous SNV	REXO1:NM_020695:exon9:c.C2768T:p.A923V	.	407	1080	34	1	0	36	0.0163934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0054	0.00439297	0.0073	0.0021	0.0059	0.0001	0.0052	0.0078	0.0027	0.0135	0.0063324	979	154602	rs74401133	0.0073	0.0073	0.0072	0.0075	0.0125	0.0072	0.0072	0.0114	0.0112	0.0014	0.0070	0.0033	5.042e-05	0.0032	0.0125	0.0077	0.0061	0.0120	0.0055	0.0055	0.0055	0.0055	0.0101	0.0052	0.0051	0.0079	0.0071	0.0019	0.0088	0.0079	0.0037	0	0.0040	0.0102	0.0076	0.0057	0.0101	0.03	0.45393	D	0.143	0.33219	T	0.23	0.30574	B	0.186	0.36104	B	0.000003	0.62929	D	0.060215	0.995133	0.42558	D	2.375	0.68372	M	2.54	0.13916	T	-2.6	0.55983	D	0.195	0.21449	-1.1082	0.03229	T	0.028	0.12190	T	10	0.0068048537	0.00155	T	.	.	.	0.100	0.28662	.	.	0.143184338766	0.13958	0.40894247736999023	0.40810	0.0962729057545	0.10862	0.343206256628	0.16918	T	0.039676	0.25271	T	-0.658948	0.00064	T	-0.708922	0.05351	T	0.0405330613057393	0.03787	T	0.742326	0.36553	T	0.17079315	0.37675	0.16569564	0.38318	0.17079315	0.37675	0.16569564	0.38318	-5.017	0.37024	T	.	.	0.084	0.10304	B	.;.	.;.	1.347823	0.17552	13.23	0.99805668766044309	0.88995	0.81410	0.40819	D	AEFDGBI	0.355174	0.44700	N	-0.331751375536376	0.27947	1.537537	-0.307785696342238	0.27846	1.548111	0.856495217170664	0.25143	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.46	2.34	0.28071	2.515000	0.45172	3.254000	0.37046	-0.109000	0.15193	0.943000	0.32764	0.997000	0.33255	0.065000	0.16320	0.1766:0.0:0.8234:0.0	9.193	0.36373	952	0.10565	Elongin A binding-protein 1;Elongin A binding-protein 1	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.014127	0.020408	0.005450	0.011765	0.000000	0.008772	0.030488	0.018939	0.02632	970.33	34	chr19	1818840	.	G	A	970.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.311;DP=735;ExcessHet=0;FS=3.195;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.48;ReadPosRankSum=-0.749;SOR=0.567	GT:AD:DP:GQ:PL	0/1:36,36:72:99:984,0,984	18	0	1	0
chr19	2939269	2939291	CACCACCCTTACCCAAGGAGGCA	0	exonic	ZNF77	.	.	.	.	542	911	21	2	46	71	0.0135355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3093.58	35	chr19	2939269	.	CACCACCCTTACCCAAGGAGGCA	*	3093.58	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.716;DP=2580;ExcessHet=0.7564;FS=1.172;InbreedingCoeff=-0.1176;MLEAC=3;MLEAF=0.079;MQ=57.96;MQRankSum=1.95;QD=3.56;ReadPosRankSum=0.409;SOR=0.785	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:125,75:200:99:.:.:1834,0,4007:.	16	0	3	0
chr19	3633475	3633475	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_012398:exon17:c.G1966A:p.A656T	Lethal congenital contractural syndrome 3, Autosomal recessive	2	1435	81	4	0	89	0.0300777	.	.	.	728142	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.044	.	0.0094	0.00678914	0.0090	0.0071	0.0047	0.0003	0.0011	0.0105	0.0115	0.0190	0.0072767	1125	154602	rs35014191	0.0089	0.0089	0.0086	0.0092	0.0245	0.0088	0.0087	0.0210	0.0197	0.0076	0.0036	0.0119	0.0001	0.0021	0.0245	0.0091	0.0097	0.0148	0.0072	0.0071	0.0077	0.0066	0.0095	0.0068	0.0067	0.0087	0.0085	0.0058	0	0.0060	0.0101	0.0002	0.0012	0.0137	0.0093	0.0109	0.0095	0.654	0.04786	T	0.289	0.21078	T	0.0	0.02946	B	0.0	0.01387	B	0.166351	0.17507	N	0.500976	0.999999	0.58761	D	0.46	0.12951	N	1.77	0.25841	T	-0.18	0.09796	N	0.221	0.24758	-0.9682	0.37571	T	0.014	0.05513	T	10	0.0037704706	0.00070	T	.	.	.	0.044	0.11924	.	.	0.2338531098	0.23012	.	.	0.312340773906	0.33537	0.507543921471	0.39879	T	0.061217	0.31596	T	-0.697437	0.00038	T	-0.762273	0.03031	T	0.0212357035127134	0.00825	T	0.524848	0.17228	T	0.02699458	0.01829	0.05359838	0.09058	0.020723399	0.00641	0.05359838	0.09057	-3.673	0.18920	T	.	.	0.065	0.01859	B	.	.	0.556133	0.09249	6.029	0.95846893947190781	0.27981	0.09924	0.15567	N	AEFDBI	0.030074	0.02958	N	-1.54024051632928	0.01592	0.0695826	-1.52061237559987	0.02186	0.1001557	0.0531868005994395	0.14930	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	3.39	-6.18	0.01906	-0.473000	0.06694	-0.968000	0.06755	-0.919000	0.02208	0.568000	0.27489	0.006000	0.19429	0.419000	0.27206	0.0:0.2685:0.0:0.7315	12.367	0.54565	964	0.07719	.	.	.	.	.	.	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	0.027919	0.015464	0.039402	0.014793	0.050000	0.008621	0.033951	0.018939	0.1053	4201.43	34	chr19	3633475	.	C	T	4201.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.222;DP=936;ExcessHet=0.7564;FS=3.83;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.029;SOR=0.887	GT:AD:DP:GQ:PL	0/1:51,62:113:99:1473,0,1217	15	0	4	0
chr19	5867062	5867062	A	T	exonic	FUT5	.	nonsynonymous SNV	FUT5:NM_002034:exon2:c.T664A:p.Y222N	.	1	1516	5	0	0	5	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	0.00367108659808	0.0006	.	0.0009	9.681e-05	0.0002	0	0.0005	0.0014	0	0.0002	0.0007115	110	154602	rs201154123	0.0009	0.0009	0.0009	0.0009	0.0014	0.0008	0.0008	0.0009	0.0008	0.0002	0.0004	0.0066	0	0.0003	0.0014	0.0009	0.0008	0.0002	0.0006	0.0006	0.0007	0.0006	0.0007	0.0005	0.0005	0.0006	0.0005	0.0002	0	0.0006	0.0069	0	0.0005	0.0034	0.0007	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	0.023228	0.26481	U	0.266064	0.944168	0.37438	D	.	.	.	1.45	0.32482	T	-7.6	0.95336	D	0.753	0.75192	-0.4991	0.68682	T	0.245	0.61354	T	10	0.08267444	0.13672	T	0.003671	0.08464	T	0.256	0.56694	.	.	0.691195176727	0.68854	0.737854656811637	0.73730	1.83954089297	0.92146	0.510499477386	0.40293	T	.	.	.	-0.259109	0.13004	T	-0.19541	0.55082	T	0.426705241203308	0.29939	T	0.889211	0.62120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.638	0.71419	P	.;.	.;.	2.922404	0.38803	20.8	0.98430990883801239	0.41397	0.94467	0.61259	D	AEFBI	0.355247	0.44704	N	0.308102806820374	0.56565	3.82125	0.0253638279280251	0.40896	2.448062	0.0397421657816056	0.14407	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.05	2.05	0.25860	3.420000	0.52493	2.237000	0.31580	0.634000	0.51959	0.380000	0.26006	0.357000	0.24501	0.412000	0.27050	1.0:0.0:0.0:0.0	7.725	0.27922	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2876.33	34	chr19	5867062	.	A	T	2876.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.349;DP=1520;ExcessHet=0;FS=2.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.99;MQRankSum=-2.669;QD=11.32;ReadPosRankSum=-1.352;SOR=0.88	GT:AD:DP:GQ:PL	0/1:136,118:254:99:2890,0,3493	18	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.3125	750.05	37	chr19	7871678	.	G	C	750.05	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.804;DP=1749;ExcessHet=6.9875;FS=186.672;InbreedingCoeff=-0.429;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.13;SOR=10.928	GT:AD:DP:GQ:PL	0/1:63,21:84:78:78,0,1532	6	0	10	3
chr19	7899489	7899489	T	C	exonic	LRRC8E	.	nonsynonymous SNV	LRRC8E:NM_001268285:exon2:c.T580C:p.Y194H,LRRC8E:NM_025061:exon3:c.T967C:p.Y323H,LRRC8E:NM_001268284:exon4:c.T967C:p.Y323H	.	387	1132	2	0	1	3	0.000882613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.602	0.0638574928044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	8.993e-07	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	8.993e-07	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.41	0.69639	M	-0.15	0.65192	T	-2.92	0.61129	D	0.903	0.94432	-0.1751	0.78303	T	0.402	0.75288	T	10	0.8058739	0.79927	D	0.063857	0.69096	D	0.602	0.84291	0.606	0.73825	0.971442762398	0.97114	0.8244021381128445	0.82398	1.04668247104	0.75978	0.795224189758	0.81237	T	0.076199	0.35361	T	0.339798	0.85820	D	0.25032	0.85634	D	0.989822149276733	0.80044	D	0.957904	0.84151	D	0.65110767	0.75424	0.5503187	0.74000	0.65110767	0.75425	0.5503187	0.74000	-9.388	0.70160	D	.	.	0.63	0.70109	P	.;.	.;.	4.068718	0.60437	24.2	0.99810090203010204	0.89442	0.96069	0.67392	D	AEFBCI	.	.	.	0.70701620151277	0.80093	7.218457	0.64933105624307	0.78560	6.901045	0.999421549500569	0.39630	0.615465	0.37627	0	0.851559	0.99867	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.13	5.13	0.69729	8.012000	0.88211	7.814000	0.69527	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.677000	0.33454	0.0:0.0:0.0:1.0	12.956	0.57826	878	0.29785	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM 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	.	.	.	.	.	.	.	.	0.02632	3344.33	35	chr19	7899489	.	T	C	3344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.539;DP=1735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-0.008;SOR=0.691	GT:AD:DP:GQ:PL	0/1:163,134:297:99:3358,0,4292	18	0	1	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,83:391:99:0|1:8888826_T_*:2689,0,10917:8888826	2	0	17	0
chr19	8888861	8888861	T	0	exonic	MUC16	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	1385.08	336	chr19	8888861	.	T	*	1385.08	.	AC=2;AF=0.067;AN=30;BaseQRankSum=4.45;DP=5953;ExcessHet=1.3;FS=10.041;InbreedingCoeff=-0.2246;MLEAC=2;MLEAF=0.067;MQ=57.6;MQRankSum=-1.673;QD=0.89;ReadPosRankSum=4.75;SOR=2.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:248,19:281:33:.:.:33,0,10559:.	13	0	2	4
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,25:251:99:0|1:8900009_C_T:369,0,9388:8900009	5	0	14	0
chr19	8953686	8953686	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C23084A:p.A7695D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00262351406188	.	0.000199681	0.0005	0.0001	0	0	0	0	0.0011	0.0034	0.0004075	63	154602	rs577486426	0.0002	0.0002	0.0001	0.0003	0.0032	0.0002	0.0002	0.0029	0.0027	2.989e-05	0	0	0	0	0.0002	3.602e-06	0.0002	0.0032	9.197e-05	9.186e-05	1.285e-05	0.0002	0.0027	5.527e-05	4.364e-05	0.0016	0.0013	2.406e-05	0	0	0	0	0	0	0	0	0.0027	0.003	0.68238	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.72	0.26588	T	-1.11	0.28703	N	0.121	0.11197	-0.9805	0.34886	T	0.075	0.30055	T	8	0.006643772	0.00151	T	0.002624	0.05320	T	0.023	0.04649	0.214	0.13354	0.0666544352282	0.05500	0.13852720108434227	0.13775	.	.	0.226748734713	0.01736	T	.	.	.	-0.597919	0.00150	T	-0.632802	0.10203	T	0.0212397983201756	0.00826	T	0.20198	0.02320	T	.	.	.	.	.	.	.	.	-7.051	0.54405	T	.	.	0.248	0.48293	B	.	.	0.315287	0.06903	3.440	0.32675733597517687	0.01906	0.00833	0.03349	N	AEFBI	0.026980	0.02123	N	-0.601461891430767	0.18901	0.9850036	-0.869876600942258	0.12810	0.6611325	9.30407969372152E-5	0.04910	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.503917	0.08554	0	.	.	2.22	-0.231	0.12441	-0.098000	0.10993	.	.	0.613000	0.49114	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1752:0.3187:0.506:0.0	3.569	0.07463	917	0.20147	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1726.33	139	chr19	8953686	.	G	T	1726.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.622;DP=2325;ExcessHet=0;FS=2.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=1.81;SOR=0.968	GT:AD:DP:GQ:PL	0/1:86,70:156:99:1740,0,2475	18	0	1	0
chr19	10338789	10338789	C	A	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.G236T:p.G79V,ICAM3:NM_001320606:exon2:c.G5T:p.G2V,ICAM3:NM_002162:exon2:c.G236T:p.G79V	.	430	1084	8	0	0	8	0.00367647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	.	7.7e-05	0.00239617	0.0021	0.0002	8.64e-05	0	0	4.497e-05	0.0033	0.0148	0.0017917	277	154602	rs145741513	0.0009	0.0009	0.0005	0.0014	0.0149	0.0009	0.0009	0.0142	0.0140	2.987e-05	0	0	2.519e-05	0	0	2.428e-05	0.0005	0.0149	0.0005	0.0005	0.0004	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	7.216e-05	0	0	0	0	0	0	0.0001	0	0.0137	0.051	0.39334	T	0.091	0.51421	T	0.986	0.61523	D	0.937	0.67262	D	0.215770	0.16257	N	0.610776	0.857715	0.39861	D	2.83	0.82355	M	2.38	0.15843	T	-4.06	0.74582	D	0.468	0.50418	-0.9579	0.39571	T	0.104	0.38267	T	10	0.014370769	0.00302	T	.	.	.	0.254	0.56428	.	.	0.444807159249	0.44105	0.576087375340809	0.57537	1.38039980579	0.84761	0.282630443573	0.07862	T	0.159719	0.50327	T	-0.461828	0.00958	T	-0.423837	0.30635	T	0.128369536934514	0.15230	T	0.717128	0.33447	T	0.7390174	0.80236	0.51835674	0.72172	0.7390174	0.80237	0.51835674	0.72172	-6.636	0.51327	T	.	.	0.345	0.59904	A	.;.;.;.;.	.;.;.;.;.	3.053305	0.40982	21.3	0.99640036919943697	0.76571	0.65527	0.32767	D	AEFBCIJ	0.165513	0.29202	N	0.500712381227294	0.67131	5.041073	0.427046149151113	0.63254	4.555783	0.999996722917702	0.74766	0.643511	0.44296	0	0.685571	0.66316	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.66	4.63	0.57175	1.438000	0.34612	2.392000	0.32546	0.533000	0.24879	0.958000	0.33488	0.987000	0.30940	0.150000	0.20306	0.0:0.9064:0.0:0.0936	9.537	0.38396	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, N-terminal;Intercellular adhesion molecule, 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	0.003021	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.007576	0.02632	2317.33	38	chr19	10338789	.	C	A	2317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.895;DP=1341;ExcessHet=0;FS=6.084;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=-1.617;SOR=1.167	GT:AD:DP:GQ:PL	0/1:65,88:153:99:2331,0,1629	18	0	1	0
chr19	10339560	10339560	C	T	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon1:c.G55A:p.V19I,ICAM3:NM_002162:exon1:c.G55A:p.V19I	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	.	7.7e-05	0.00239617	0.0022	0.0002	0.0002	0	0	9.094e-05	0.0045	0.0151	0.0018628	288	154602	rs148348101	0.0009	0.0009	0.0005	0.0014	0.0151	0.0009	0.0009	0.0144	0.0141	0	0	0	2.519e-05	0	0.0009	2.878e-05	0.0005	0.0151	0.0005	0.0005	0.0003	0.0007	0.0137	0.0004	0.0004	0.0110	0.0101	7.213e-05	0	0	0	0	0	0	5.88e-05	0	0.0137	0.331	0.13088	T	1.0	0.01155	T	0.012	0.16265	B	0.004	0.10090	B	0.042213	0.01902	N	2.631980	1	0.19599	N	1.36	0.34107	L	4.3	0.02437	T	-0.11	0.08653	N	0.032	0.00825	-0.9412	0.42426	T	0.008	0.02760	T	10	0.005120039	0.00111	T	.	.	.	0.032	0.07718	.	.	0.143124449307	0.13826	0.19154345286049587	0.19072	0.328158930332	0.34936	0.285743236542	0.08305	T	0.065251	0.32640	T	-0.72936	0.00024	T	-0.808127	0.01707	T	0.00756535430341179	0.00088	T	0.419458	0.11115	T	0.027059333	0.01845	0.022996616	0.00316	0.027059333	0.01845	0.022996616	0.00316	-4.357	0.28968	T	.	.	0.091	0.12891	B	.	.	-0.439759	0.02069	0.190	0.8623663793516213	0.16402	0.02677	0.07305	N	ALL	0.038696	0.05515	N	-1.32508684775682	0.03390	0.1513651	-1.39815435686502	0.03272	0.1522784	0.999999999993461	0.74766	0.741868	0.97996	0	0.52208	0.09955	0	0.774882	0.98623	0	0.631631	0.49550	0	.	.	4.4	-6.04	0.01995	-0.394000	0.07357	-2.522000	0.03652	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.390000	0.26558	0.1201:0.2106:0.59:0.0793	7.966	0.29259	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	0.003021	0.000000	0.000000	0.005848	0.000000	0.000000	0.003049	0.011364	0.02632	953.33	34	chr19	10339560	.	C	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.016;DP=704;ExcessHet=0;FS=0.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=-1.965;SOR=0.551	GT:AD:DP:GQ:PL	0/1:34,42:76:99:967,0,843	18	0	1	0
chr19	10687390	10687390	G	A	exonic	ILF3	.	nonsynonymous SNV	ILF3:NM_012218:exon18:c.G2104A:p.G702S,ILF3:NM_017620:exon18:c.G2116A:p.G706S	.	429	1069	21	3	0	27	0.0124711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.0180897248204	0.0027	0.000798722	0.0034	0.0004	0.0019	0	0.0004	0.0054	0.0065	0.0008	0.0030142	466	154602	rs200928937	0.0028	0.0028	0.0029	0.0028	0.0166	0.0028	0.0027	0.0137	0.0126	0.0008	0.0029	0.0198	0	0.0008	0.0166	0.0026	0.0051	0.0010	0.0025	0.0025	0.0025	0.0025	0.0046	0.0023	0.0022	0.0038	0.0035	0.0005	0	0.0046	0.0216	0	0.0004	0.0068	0.0029	0.0043	0.0008	0.256	0.16793	T	0.037	0.51737	D	1.0	0.90584	D	0.987	0.77487	D	0.086124	0.20604	N	0.501216	0.581031	0.31099	N	0.895	0.22405	L	2.58	0.13434	T	0.11	0.05706	N	0.397	0.44187	-1.1387	0.01407	T	0.052	0.22153	T	10	0.007963777	0.00181	T	0.01809	0.40035	T	0.086	0.25016	.	.	0.63116510682	0.62815	0.21223151268231025	0.21139	0.309918074836	0.33302	0.461486816406	0.33515	T	0.185931	0.53906	T	-0.495792	0.00604	T	-0.486103	0.23801	T	0.0452670708221947	0.04650	T	0.761924	0.38711	T	0.061783712	0.12834	0.061892174	0.12024	0.061783712	0.12833	0.061892174	0.12023	-5.15	0.38789	T	.	.	0.069	0.03515	B	.;.;.	.;.;.	3.636222	0.51531	23.1	0.96031580595347221	0.28506	0.80585	0.40184	D	AEFDBCI	0.290847	0.40212	N	0.349802305639975	0.58730	4.047036	0.327860217749199	0.57182	3.883211	0.99994976792358	0.47345	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.59	3.52	0.39415	4.634000	0.61023	9.397000	0.80618	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.942000	0.48361	0.1169:0.0:0.8831:0.0	9.102	0.35837	730	0.54327	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008891	0.000000	0.004087	0.021875	0.000000	0.000000	0.019355	0.003906	0.05263	3714.83	34	chr19	10687390	.	G	A	3714.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.61;DP=804;ExcessHet=0.119;FS=1.161;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=17.69;ReadPosRankSum=0.73;SOR=0.793	GT:AD:DP:GQ:PL	0/1:32,77:109:99:1921,0,582	17	0	2	0
chr19	11487712	11487712	C	T	exonic	ZNF653	.	nonsynonymous SNV	ZNF653:NM_138783:exon4:c.G751A:p.V251M	.	427	1082	13	0	0	13	0.00597152	.	.	.	2811599	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00620692297086	0.0048	0.00179712	0.0045	0.0033	0.0018	0	0.0064	0.0061	0.0034	0.0026	0.0044566	689	154602	rs140179197	0.0056	0.0056	0.0055	0.0056	0.0065	0.0055	0.0054	0.0063	0.0063	0.0038	0.0021	7.656e-05	0	0.0052	0.0024	0.0065	0.0043	0.0025	0.0042	0.0042	0.0044	0.0040	0.0061	0.0039	0.0038	0.0056	0.0055	0.0033	0	0.0018	0.0003	0	0.0036	0	0.0061	0.0024	0.0025	0.145	0.25154	T	0.104	0.38160	T	0.066	0.23586	B	0.007	0.12992	B	0.665997	0.10385	N	0.848002	0.592312	0.31009	N	0.345	0.11182	N	2.8	0.11082	T	0.24	0.04533	N	0.238	0.26837	-1.0795	0.07446	T	0.009	0.03403	T	10	0.005102366	0.00110	T	0.006207	0.16288	T	0.052	0.14661	.	.	0.340032825777	0.33618	0.2615099889713293	0.26063	0.191270352614	0.21451	0.576436936855	0.49583	T	0.023085	0.17685	T	-0.586708	0.00176	T	-0.609569	0.12020	T	0.00482236284443729	0.00052	T	0.729627	0.34527	T	0.065100916	0.13880	0.062361695	0.12187	0.065100916	0.13880	0.062361695	0.12187	-4.897	0.35701	T	.	.	0.166	0.36673	B	.	.	2.053901	0.26112	17.00	0.97824821111115767	0.36220	0.49554	0.28460	N	AEFDGBI	0.074435	0.14919	N	-0.38601774951174	0.25967	1.413592	-0.212332017260941	0.31092	1.756436	0.00193273689787783	0.09019	0.700653	0.57754	0	0.653731	0.59785	0	0.717052	0.78885	0	0.699875	0.68795	0	.	.	4.49	3.2	0.35826	0.887000	0.27891	.	.	0.591000	0.32079	0.973000	0.34540	0.000000	0.08366	0.978000	0.57271	0.0:0.7833:0.0:0.2167	6.927	0.23598	730	0.54327	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07895	5299.79	35	chr19	11487712	.	C	T	5299.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.207;DP=1250;ExcessHet=0.3672;FS=0.52;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.793;SOR=0.631	GT:AD:DP:GQ:PL	0/1:67,72:139:99:1731,0,1525	16	0	3	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15365.4	34	chr19	12430730	.	A	*	15365.4	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.331;DP=3014;ExcessHet=1.1637;FS=3.239;InbreedingCoeff=-0.0192;MLEAC=4;MLEAF=0.105;MQ=58.32;MQRankSum=-4.846;QD=12.05;ReadPosRankSum=0.056;SOR=0.515	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,80:155:99:0|1:12430718_C_A:3133,0,2885:12430718	15	0	4	0
chr19	12656609	12656609	C	G	exonic	MAN2B1	.	nonsynonymous SNV	MAN2B1:NM_000528:exon13:c.G1606C:p.V536L,MAN2B1:NM_001173498:exon13:c.G1603C:p.V535L	Mannosidosis, alpha-, types I and II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00924875777381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.06461	T	0.56	0.09113	T	0.001	0.07471	B	0.002	0.06944	B	0.172221	0.03119	N	1.839980	1	0.08975	N	-0.88	0.01436	N	-1.2	0.78537	T	-0.62	0.18248	N	0.049	0.02088	-1.0023	0.29255	T	0.128	0.43503	T	10	0.058353633	0.06847	T	0.009249	0.24296	T	0.178	0.44724	0.381	0.39807	0.255777322467	0.25185	0.2913161123609549	0.29044	1.75436928323	0.91029	0.275301098824	0.06846	T	0.200606	0.55824	T	-0.261859	0.12684	T	-0.613919	0.11668	T	0.027184043479775	0.01570	T	0.424758	0.11367	T	0.033511903	0.03585	0.04544123	0.06116	0.033511903	0.03585	0.04544123	0.06115	-1.994	0.03211	T	0.05330941263251451	0.01071	0.079	0.07507	B	.;.	.;.	-0.366857	0.02340	0.252	0.42574181890031954	0.03147	0.01155	0.04171	N	AEFDGBI	0.049958	0.08684	N	-1.80642994303045	0.00530	0.0228017	-1.86292426515946	0.00578	0.02566188	0.999998628524286	0.74766	0.766844	0.99359	0	0.702456	0.74545	0	0.851219	0.99655	0	0.714379	0.83352	0	.	.	5.24	-10.5	0.00234	-1.577000	0.02231	.	.	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.328000	0.25156	0.1773:0.2857:0.2147:0.3222	0.939	0.01267	784	0.47045	Glycosyl hydrolase family 38, 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	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1680.33	37	chr19	12656609	.	C	G	1680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.529;DP=787;ExcessHet=0;FS=0.616;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=0.853;SOR=0.619	GT:AD:DP:GQ:PL	0/1:74,69:143:99:1694,0,1813	18	0	1	0
chr19	13762718	13762718	A	C	exonic	CCDC130	.	nonsynonymous SNV	CCDC130:NM_001320568:exon9:c.A406C:p.T136P,CCDC130:NM_001320569:exon9:c.A694C:p.T232P,CCDC130:NM_001320566:exon10:c.A406C:p.T136P,CCDC130:NM_001320567:exon10:c.A406C:p.T136P,CCDC130:NM_030818:exon10:c.A841C:p.T281P,CCDC130:NM_001320561:exon11:c.A841C:p.T281P,CCDC130:NM_001320564:exon11:c.A841C:p.T281P,CCDC130:NM_001320565:exon11:c.A841C:p.T281P	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00193102371775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.13654	T	0.285	0.21343	T	0.0	0.02946	B	0.001	0.04355	B	0.465254	0.04893	N	1.287990	1	0.08975	N	0.255	0.09829	N	1.56	0.29602	T	-0.12	0.08809	N	0.05	0.02462	-1.0274	0.21299	T	0.021	0.08963	T	10	0.0533711	0.05519	T	0.001931	0.03430	T	0.035	0.08770	0.5	0.59147	0.130388298395	0.12655	0.47113205587525625	0.47032	0.290629652234	0.31473	0.373237758875	0.21295	T	0.00386	0.08204	T	-0.396795	0.02430	T	-0.807745	0.01716	T	0.0808392369253689	0.10095	T	0.359864	0.08266	T	0.04630288	0.07727	0.04834456	0.07162	0.04630288	0.07727	0.04834456	0.07161	-2.539	0.06054	T	.	.	0.054	0.00382	B	.;.;.	.;.;.	-0.689995	0.01344	0.075	0.70151989004493276	0.09203	0.00683	0.02927	N	AEFDBI	0.042970	0.06733	N	-1.89374611471907	0.00354	0.01519043	-1.9768349749702	0.00342	0.01512824	0.999998553776917	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.23	-10.5	0.00234	-4.026000	0.00351	-2.850000	0.03298	-0.203000	0.08628	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.1611:0.3217:0.3465:0.1707	2.921	0.05414	958	0.09170	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	771.33	35	chr19	13762718	.	A	C	771.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.096;DP=712;ExcessHet=0;FS=2.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.53;SOR=0.428	GT:AD:DP:GQ:PL	0/1:31,32:63:99:785,0,904	18	0	1	0
chr19	15439663	15439663	C	T	exonic	WIZ	.	nonsynonymous SNV	WIZ:NM_001371589:exon4:c.G1331A:p.S444N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.00383085852227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261072	0.15314	N	0.589164	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.8018	0.55038	T	0.017	0.06902	T	7	0.26831228	0.44349	T	0.003831	0.08961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.472453	0.14032	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.38208	B	.	.	3.019464	0.40410	21.2	0.98982001896632987	0.49760	0.74507	0.36450	D	AEFDBCI	0.201916	0.32854	N	0.0792102774711377	0.45493	2.804952	0.106712000605896	0.44889	2.762179	0.944359364689849	0.27611	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	5.66	5.66	0.87293	2.445000	0.44558	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.096000	0.18090	0.0:1.0:0.0:0.0	16.651	0.85061	653	0.62661	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	35.93	.	chr19	15439663	.	C	T	35.93	.	AC=2;AF=0.083;AN=24;DP=29;ExcessHet=0;FS=0;InbreedingCoeff=0.2876;MLEAC=2;MLEAF=0.083;MQ=60;QD=17.97;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	7
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	3189.55	43	chr19	17286684	.	G	*	3189.55	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.282;DP=1136;ExcessHet=0.1504;FS=14.022;InbreedingCoeff=0.1335;MLEAC=2;MLEAF=0.056;MQ=59.99;MQRankSum=0;QD=12.46;ReadPosRankSum=1.48;SOR=0.259	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,35:61:99:.:.:2564,1068,984:.	16	0	2	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2249.6	43	chr19	17286686	.	GTGTGTT	*	2249.6	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.022;DP=1133;ExcessHet=5.3738;FS=12.865;InbreedingCoeff=-0.3091;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=5.74;ReadPosRankSum=0.657;SOR=0.273	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,37:59:99:.:.:1482,0,813:.	17	0	2	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3880.44	40	chr19	17286688	.	GTGTT	*	3880.44	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-0.372;DP=1140;ExcessHet=2.8292;FS=10.141;InbreedingCoeff=-0.1312;MLEAC=4;MLEAF=0.105;MQ=59.99;MQRankSum=0;QD=7.89;ReadPosRankSum=1.3;SOR=0.297	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:1,40:61:99:.:.:2649,652,483:.	15	0	4	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,40:61:99:.:.:2166,169,0:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	1/1:1,69:70:99:3340,202,0	4	6	8	1
chr19	18059998	18059998	C	T	exonic	IL12RB1	.	nonsynonymous SNV	IL12RB1:NM_001290023:exon16:c.G1879A:p.E627K,IL12RB1:NM_005535:exon16:c.G1879A:p.E627K,IL12RB1:NM_001290024:exon17:c.G1999A:p.E667K	Immunodeficiency 30, Autosomal recessive	0	1506	16	0	0	16	0.00528402	.	.	YES	349560	Mendelian_susceptibility_to_mycobacterial_diseases_due_to_complete_IL12RB1_deficiency|IL12RB1-related_disorder|not_provided	MONDO:MONDO:0013955,MedGen:C4013949,OMIM:614891,Orphanet:319552|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.194	0.0502997711593	0.0003	0.000798722	0.0016	0.0002	0.0007	0	0.0008	0.0015	0.0034	0.0042	0.0008797	136	154602	rs143367415	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0006	0.0022	0.0021	3.016e-05	0.0001	0.0008	2.53e-05	0.0007	0.0026	0.0005	0.0006	0.0025	0.0005	0.0005	0.0004	0.0005	0.0031	0.0004	0.0003	0.0019	0.0015	0	0	6.541e-05	0	0	9.411e-05	0.0034	0.0007	0.0005	0.0031	.	.	.	0.022	0.57587	D	0.886	0.48745	P	0.206	0.37138	B	0.243444	0.15662	N	0.556492	1	0.08975	N	0.83	0.20963	L	-1.69	0.82985	D	.	.	.	0.068	0.04072	-0.7239	0.59269	T	0.336	0.70289	T	10	0.005658984	0.00126	T	0.050	0.64185	D	.	.	.	.	0.837196984627	0.83564	0.11495638176315126	0.11423	0.0998762674502	0.11279	0.269627898932	0.06092	T	0.221584	0.58519	T	-0.422628	0.01646	T	-0.384468	0.35199	T	0.0331579474704862	0.02498	T	0.455954	0.13062	T	0.045579966	0.07485	0.049427263	0.07550	0.042662505	0.06510	0.038296826	0.03668	-4.54	0.31408	T	.	.	0.073	0.04806	B	.;.	.;.	0.730864	0.11002	7.660	0.98659263288509513	0.44303	0.02380	0.06763	N	AEFDGBI	0.048807	0.08368	N	-0.707493968953395	0.15810	0.8001046	-0.829217321851856	0.13788	0.7171667	0.0255451232259495	0.13655	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.52	1.35	0.21078	-0.075000	0.11392	-1.364000	0.05615	-1.895000	0.00529	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6617:0.2178:0.1205	4.940	0.13314	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	0.003525	0.000000	0.001359	0.008772	0.000000	0.000000	0.006098	0.007576	0.02632	1096.33	34	chr19	18059998	.	C	T	1096.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.726;DP=777;ExcessHet=0;FS=2.681;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-0.853;SOR=0.457	GT:AD:DP:GQ:PL	0/1:49,46:95:99:1110,0,1149	18	0	1	0
chr19	19544989	19544989	G	C	exonic	CILP2	.	nonsynonymous SNV	CILP2:NM_153221:exon8:c.G2444C:p.G815A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.217	0.0467361087175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.0	0.92824	D	0.99	0.63424	D	0.893	0.63340	P	0.000000	0.84330	D	0.000000	0.999925	0.51308	D	2.69	0.78713	M	2.88	0.10291	T	-4.6	0.78976	D	0.719	0.75466	-1.1757	0.00437	T	0.071	0.29001	T	10	0.74837387	0.75454	D	0.046736	0.62596	D	0.217	0.51112	0.156	0.05964	0.653643074943	0.65075	0.7125137087205323	0.71193	1.1968291228	0.80426	0.685305595398	0.65031	T	0.404289	0.76079	T	-0.0698179	0.41355	T	-0.338065	0.40563	T	0.985132455825806	0.76219	D	0.978652	0.92496	D	0.43831882	0.63293	0.31191736	0.57195	0.43831882	0.63294	0.31191736	0.57195	-5.435	0.41255	T	.	.	0.179	0.40164	B	.;.	.;.	3.942494	0.57705	23.9	0.99472887242322705	0.66419	0.98485	0.83276	D	AEFDBI	0.871253	0.79255	D	0.695801919831954	0.79355	7.060668	0.691538961192221	0.81735	7.596926	0.999954455496895	0.48110	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.2	5.2	0.71720	7.628000	0.82379	.	.	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.041000	0.14368	0.0:0.0:1.0:0.0	16.297	0.82604	432	0.80690	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1433.33	73	chr19	19544989	.	G	C	1433.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=908;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.1;ReadPosRankSum=1.08;SOR=0.76	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1447,0,1051	18	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	3242.86	183	chr19	21383191	.	G	A	3242.86	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.267;DP=2155;ExcessHet=4.0268;FS=7.059;InbreedingCoeff=-0.3333;MLEAC=9;MLEAF=0.281;MQ=58.7;MQRankSum=-11.53;QD=2.49;ReadPosRankSum=-1.253;SOR=1.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,15:156:99:0|1:21383168_A_G:205,0,5875:21383168	8	0	8	3
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	2200.43	182	chr19	21383196	.	T	C	2200.43	.	AC=8;AF=0.235;AN=34;BaseQRankSum=1.69;DP=2105;ExcessHet=4.0268;FS=7.984;InbreedingCoeff=-0.3099;MLEAC=9;MLEAF=0.265;MQ=58.83;MQRankSum=-11.88;QD=1.72;ReadPosRankSum=-1.247;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,14:154:99:0|1:21383168_A_G:166,0,5836:21383168	9	0	8	2
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1572.62	181	chr19	21383203	.	A	AACTC	1572.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.25;DP=2083;ExcessHet=2.0135;FS=8.544;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=58.86;MQRankSum=-12.12;QD=1.64;ReadPosRankSum=-1.552;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,12:148:94:0|1:21383168_A_G:94,0,5674:21383168	13	0	6	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1490.66	183	chr19	21383205	.	GTCAA	G	1490.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=5.08;DP=1945;ExcessHet=2.0135;FS=8.452;InbreedingCoeff=-0.2068;MLEAC=6;MLEAF=0.167;MQ=58.77;MQRankSum=-12.23;QD=1.53;ReadPosRankSum=-1.111;SOR=1.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,12:151:85:0|1:21383168_A_G:85,0,5800:21383168	12	0	6	1
chr19	21383393	21383393	G	0	exonic	ZNF738	.	.	.	.	617	630	79	26	170	301	0.0941769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	6047.41	76	chr19	21383393	.	G	*	6047.41	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.652;DP=1171;ExcessHet=0.6984;FS=2.485;InbreedingCoeff=0.0952;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=1.4;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,25:65:99:.:.:932,0,1591:.	13	1	5	0
chr19	32711850	32711850	C	T	exonic	NUDT19	.	nonsynonymous SNV	NUDT19:NM_001105570:exon3:c.C1021T:p.R341W	.	.	.	.	.	.	.	.	.	.	.	2768432	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.466	0.166230006598	8.3e-05	.	4.141e-05	0	0	0	0	4.496e-05	0	0.0001	3.23e-05	5	154602	rs371717452	6.913e-05	6.909e-05	7.9e-05	5.916e-05	8.188e-05	5.783e-05	5.394e-05	6.788e-05	6.287e-05	5.977e-05	0	0	0	0	0	8.188e-05	1.657e-05	8.117e-05	7.228e-05	7.219e-05	6.426e-05	8.067e-05	0.0002	3.971e-05	3.127e-05	3.761e-05	2.575e-05	9.632e-05	0	0	0	0	0	0	8.819e-05	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	U	0.000000	1	0.81001	D	2.25	0.63811	M	0.05	0.61923	T	-6.7	0.92476	D	0.856	0.85238	-0.4320	0.71001	T	0.365	0.72605	T	10	0.9665259	0.96147	D	0.16623	0.84490	D	0.466	0.76156	.	.	0.561485227407	0.55810	0.9006485000465323	0.90036	0.44475369752	0.44375	0.49038079381	0.37492	T	0.610648	0.87655	D	-0.0165972	0.49336	T	-0.00193805	0.70211	D	0.944816052913666	0.62137	D	0.714629	0.32694	T	0.52205867	0.68378	0.22822568	0.47857	0.52205867	0.68379	0.22822568	0.47856	-12.758	0.88341	D	.	.	0.351	0.56664	A	.	.	4.048385	0.59987	24.2	0.99810308763996836	0.89442	0.59555	0.30948	D	AEFDBI	0.218813	0.34377	N	0.127419404730906	0.47743	2.99594	-0.00833390694703851	0.39338	2.330817	1.26761724938595E-4	0.05386	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.59	2.19	0.26890	1.437000	0.34601	2.749000	0.34521	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.037000	0.13953	0.2265:0.5768:0.0:0.1967	4.085	0.09420	829	0.39537	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1192.33	34	chr19	32711850	.	C	T	1192.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.348;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=-0.67;SOR=0.684	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1206,0,1328	18	0	1	0
chr19	34684157	34684157	C	T	exonic	ZNF302	.	nonsynonymous SNV	ZNF302:NM_001289188:exon5:c.C383T:p.A128V,ZNF302:NM_001289189:exon5:c.C383T:p.A128V,ZNF302:NM_001289190:exon5:c.C380T:p.A127V,ZNF302:NM_001289191:exon5:c.C380T:p.A127V,ZNF302:NM_001289192:exon5:c.C380T:p.A127V,ZNF302:NM_018675:exon5:c.C380T:p.A127V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000543839845732	.	0.000199681	7.343e-05	0	0.0015	0	0	0	0	0	3.23e-05	5	154602	rs554061402	4.119e-05	2.97e-05	4.562e-05	3.68e-05	0.0008	2.889e-05	2.497e-05	0.0003	0.0002	0	0.0006	0	0	0	0.0008	2.788e-05	0.0001	0	4.675e-05	5.126e-05	6.799e-05	2.078e-05	0.0004	1.767e-05	1.192e-05	0.0001	6.08e-05	3.706e-05	0	0.0004	0	0	0	0	0	0.0007	0	0.0	0.91255	D	0.4	0.15010	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.49	0.00930	T	-1.11	0.28703	N	0.04	0.01347	-0.9180	0.45824	T	0.002	0.00646	T	7	0.011526525	0.00251	T	5.44E-4	0.00196	T	0.018	0.03083	0.3	0.26683	0.0954503805726	0.09146	.	.	.	.	.	.	.	0.019923	0.18839	T	-0.496352	0.00599	T	-0.576108	0.14894	T	0.0315527425861971	0.02234	T	0.368163	0.08910	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.49343	B	.;.;.;.	.;.;.;.	0.418774	0.07896	4.598	0.085456667192201824	0.00069	0.00145	0.00883	N	AEFBHI	0.018158	0.00529	N	-1.23054469079839	0.04563	0.2061751	-1.360503884253	0.03683	0.1723336	0.930169597742935	0.26997	0.475973	0.10046	0	0.601575	0.49859	0	0.670488	0.60580	0	0.727631	0.95156	0	.	.	0.967	-0.126	0.12855	0.593000	0.23700	0.306000	0.17032	-0.664000	0.04342	0.001000	0.13787	0.057000	0.21958	0.001000	0.02609	0.0:0.3138:0.0:0.6862	2.925	0.05428	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	279.59	21	chr19	34684157	.	C	T	279.59	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-1.282;DP=556;ExcessHet=0;FS=0;InbreedingCoeff=-0.0731;MLEAC=1;MLEAF=0.031;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.51;SOR=0.446	GT:AD:DP:GQ:PL	0/1:14,11:25:99:292,0,395	15	0	1	3
chr19	35511468	35511468	A	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	903.11	81	chr19	35511468	.	A	*	903.11	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.624;DP=1036;ExcessHet=0.1204;FS=1.808;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.98;ReadPosRankSum=-1.292;SOR=0.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,27:68:99:.:.:1023,0,1604:.	13	2	4	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	699.14	81	chr19	35511491	.	C	*	699.14	.	AC=8;AF=0.211;AN=38;BaseQRankSum=1.41;DP=1048;ExcessHet=0.1204;FS=1.128;InbreedingCoeff=0.272;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.413;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:41,27:68:99:.:.:1023,0,1604:.	13	2	4	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T,ZNF567:NM_001322912:exon5:c.T1838C:p.I613T,ZNF567:NM_152603:exon5:c.T1838C:p.I613T,ZNF567:NM_001300979:exon6:c.T1931C:p.I644T,ZNF567:NM_001322913:exon6:c.T1931C:p.I644T,ZNF567:NM_001322914:exon6:c.T1931C:p.I644T,ZNF567:NM_001322916:exon6:c.T1931C:p.I644T,ZNF567:NM_001322917:exon6:c.T1931C:p.I644T,ZNF567:NM_001322919:exon6:c.T1931C:p.I644T,ZNF567:NM_001322915:exon7:c.T1931C:p.I644T,ZNF567:NM_001322918:exon7:c.T1931C:p.I644T,ZNF567:NM_001322920:exon7:c.T1931C:p.I644T	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	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	0.026183	0.000000	0.012228	0.011696	0.000000	0.008621	0.024390	0.071970	0.1053	3775.43	35	chr19	36720655	.	T	C	3775.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.645;DP=869;ExcessHet=0.7564;FS=2.009;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=-0.792;SOR=0.845	GT:AD:DP:GQ:PL	0/1:34,35:69:99:912,0,828	15	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	.	.	.	.	.	.	.	.	0.3214	3330.01	92	chr19	37887095	.	C	T	3330.01	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-3.747;DP=1972;ExcessHet=5.3738;FS=263.164;InbreedingCoeff=-0.434;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.09;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,29:109:99:0|1:37887095_C_T:475,0,2661:37887095	5	0	9	5
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	4138.4	92	chr19	37887096	.	A	G	4138.4	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-3.922;DP=2038;ExcessHet=8.9063;FS=263.024;InbreedingCoeff=-0.515;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.27;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,29:109:99:0|1:37887095_C_T:475,0,2661:37887095	4	0	11	4
chr19	39268683	39268683	C	G	exonic	IFNL2	.	nonsynonymous SNV	IFNL2:NM_172138:exon2:c.C17G:p.T6S	.	394	1069	58	1	0	60	0.0272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	.	0.0060	0.0103834	0.0084	0.0015	0.0049	0.0001	0.0005	0.0081	0.0143	0.0235	0.0082405	1274	154602	rs142031126	0.0087	0.0087	0.0081	0.0092	0.0232	0.0086	0.0085	0.0223	0.0220	0.0013	0.0052	0.0127	2.519e-05	0.0011	0.0217	0.0084	0.0089	0.0232	0.0062	0.0062	0.0062	0.0062	0.0251	0.0059	0.0058	0.0214	0.0201	0.0016	0	0.0071	0.0095	0	0.0006	0.0170	0.0086	0.0071	0.0251	0.346	0.12469	T	0.272	0.22223	T	0.017	0.17573	B	0.036	0.22909	B	0.402935	0.04545	N	1.539810	1	0.08975	N	0.205	0.09354	N	2.55	0.13795	T	0.16	0.05217	N	0.09	0.06854	-0.9760	0.35904	T	0.014	0.05369	T	10	0.0037507713	0.00070	T	.	.	.	0.034	0.08419	0.152	0.05544	0.104622674875	0.10061	0.10945525285505907	0.10874	0.282123927823	0.30676	0.33310854435	0.15404	T	0.006617	0.06047	T	-0.721941	0.00027	T	-0.792209	0.02105	T	0.00170357977358575	0.00017	T	0.19678	0.02180	T	0.022907108	0.00988	0.02842597	0.01077	0.022907108	0.00988	0.02842597	0.01077	-3.021	0.10409	T	.	.	0.085	0.10111	B	.	.	-0.061201	0.03878	0.845	0.56440122075619437	0.05553	0.03824	0.09165	N	AEFDGI	0.022517	0.01135	N	-1.1275330983598	0.06157	0.282706	-1.1155589654113	0.07402	0.3599391	0.00107984509852559	0.08194	0.525926	0.21836	0	0.615948	0.52940	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.29	2.18	0.26813	0.602000	0.23833	.	.	-2.382000	0.00299	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.7638:0.2362:0.0	8.711	0.33543	636	0.64483	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013575	0.000000	0.016349	0.008547	0.000000	0.000000	0.026316	0.027344	0.05263	5102.83	33	chr19	39268683	.	C	G	5102.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.38;DP=1029;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.83;MQRankSum=-1;QD=12.36;ReadPosRankSum=2.71;SOR=0.67	GT:AD:DP:GQ:PL	0/1:104,102:206:99:2793,0,2757	17	0	2	0
chr19	40015261	40015261	C	A	exonic	ZNF546	.	nonsynonymous SNV	ZNF546:NM_001297763:exon7:c.C1913A:p.P638H,ZNF546:NM_178544:exon7:c.C1991A:p.P664H	.	411	1096	13	2	0	17	0.00769579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	0.0035	0.00379393	0.0043	0.0012	0.0016	0	0.0044	0.0044	0.0055	0.0100	0.0042561	658	154602	rs142397727	0.0052	0.0052	0.0052	0.0053	0.0090	0.0051	0.0051	0.0084	0.0082	0.0010	0.0016	0.0077	0	0.0035	0.0047	0.0054	0.0052	0.0090	0.0035	0.0035	0.0035	0.0035	0.0097	0.0032	0.0031	0.0075	0.0067	0.0010	0	0.0021	0.0092	0	0.0035	0.0068	0.0048	0.0057	0.0097	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.653301	0.32984	D	2.09	0.57893	M	2.27	0.56772	T	-7.06	0.93879	D	0.414	0.45426	-0.0279	0.81675	T	0.311	0.68112	T	9	0.008543998	0.00194	T	.	.	.	0.210	0.50028	.	.	0.860167341092	0.85881	0.03879595108451441	0.03825	0.484137268567	0.47336	0.386950731277	0.23238	T	0.113869	0.43125	T	-0.364672	0.03873	T	-0.289354	0.45839	T	0.0383043435494674	0.03386	T	.	.	.	0.4752062	0.65609	0.47731093	0.69718	0.4752062	0.65609	0.47731093	0.69719	-9.59	0.71418	D	.	.	0.893	0.84006	P	.;.	.;.	3.101264	0.41800	21.4	0.99558160566288523	0.71583	0.86165	0.45394	D	AEFGBHCI	0.412693	0.48266	N	0.471918669536868	0.65458	4.824925	0.262871618795705	0.53386	3.507753	0.999386520617574	0.39415	0.553676	0.25195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	2.68	2.68	0.30839	3.084000	0.49841	.	.	0.469000	0.21855	0.951000	0.33123	0.000000	0.08366	0.011000	0.09372	0.0:1.0:0.0:0.0	11.527	0.49836	769	0.49307	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	0.003525	0.000000	0.004076	0.002924	0.000000	0.008621	0.000000	0.015152	0.05263	3897.83	47	chr19	40015261	.	C	A	3897.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.21;DP=1024;ExcessHet=0.119;FS=0.41;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=59.95;MQRankSum=1.09;QD=12.37;ReadPosRankSum=1.11;SOR=0.65	GT:AD:DP:GQ:PL	0/1:96,65:161:99:1662,0,2619	17	0	2	0
chr19	40381080	40381080	G	T	exonic	HIPK4	.	nonsynonymous SNV	HIPK4:NM_144685:exon3:c.C911A:p.T304N	.	426	1087	9	0	0	9	0.00412277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00971703052605	0.0068	0.00199681	0.0054	0.0017	0.0036	0	0.0035	0.0079	0.0069	0.0028	0.0052134	806	154602	rs79330270	0.0084	0.0084	0.0084	0.0084	0.0095	0.0083	0.0082	0.0094	0.0093	0.0017	0.0046	0.0131	0	0.0055	0.0040	0.0095	0.0084	0.0025	0.0061	0.0061	0.0063	0.0059	0.0090	0.0058	0.0056	0.0084	0.0082	0.0019	0	0.0058	0.0147	0	0.0060	0.0102	0.0090	0.0104	0.0019	0.553	0.06523	T	0.457	0.12704	T	0.001	0.07471	B	0.004	0.10090	B	0.776416	0.09506	N	0.892967	0.991	0.24083	N	0.335	0.10427	N	2.09	0.20122	T	0.79	0.01893	N	0.094	0.07398	-0.9490	0.41143	T	0.010	0.03765	T	10	0.0053276718	0.00117	T	0.009717	0.25381	T	0.016	0.02506	.	.	0.273938319068	0.27005	0.26611127717448557	0.26524	0.369375503011	0.38465	0.320496082306	0.13496	T	0.017857	0.14499	T	-0.691148	0.00041	T	-0.759023	0.03148	T	0.000881895418135936	0.00008	T	0.480552	0.14510	T	0.043260098	0.06709	0.04543267	0.06112	0.043260098	0.06708	0.04543267	0.06112	-3.242	0.13000	T	.	.	0.074	0.05103	B	.	.	-0.643657	0.01456	0.089	0.67150523907614956	0.08269	0.36960	0.25653	N	AEFDGBI	.	.	.	-1.51411854828507	0.01756	0.07691573	-1.39430744236027	0.03312	0.1542543	0.0030634780167853	0.09903	0.676195	0.55175	0	0.550933	0.16991	0	0.564498	0.18976	0	0.613276	0.41899	0	.	.	5.67	-2.14	0.06725	0.215000	0.17352	.	.	-2.905000	0.00161	0.020000	0.19661	0.001000	0.17328	0.001000	0.02609	0.0701:0.4725:0.2585:0.1989	5.916	0.18293	726	0.54788	Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1611.33	36	chr19	40381080	.	G	T	1611.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.027;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=1.36;SOR=0.712	GT:AD:DP:GQ:PL	0/1:102,68:170:99:1625,0,2629	18	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:4,41:45:45:0|1:40667975_C_T:1692,0,45:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,41:45:36:1|0:40667975_C_T:2076,174,36:40667975	1	7	11	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	.	.	.	.	.	.	.	.	0.2188	1077.81	113	chr19	42095399	.	C	G	1077.81	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.952;DP=1644;ExcessHet=2.9153;FS=124.913;InbreedingCoeff=-0.2847;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=0.285;SOR=10.307	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,23:97:99:0|1:42095395_A_G:133,0,1627:42095395	9	0	7	3
chr19	43176069	43176069	T	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.A510C:p.E170D,PSG5:NM_002781:exon3:c.A510C:p.E170D	.	11	1445	66	0	0	66	0.0223275	.	.	.	2340841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.000670184073519	.	.	2.475e-05	9.716e-05	0	0	0	3.001e-05	0	0	3.84e-05	1	26028	rs200537553	2.743e-06	0.0003	1.365e-06	4.136e-06	9.005e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.652e-05	0	9.005e-07	0	0	2.651e-05	0.0007	3.885e-05	1.358e-05	6.632e-05	8.2e-06	5.18e-06	4.91e-06	1.84e-06	0	0	6.632e-05	0	0	0	0	2.958e-05	0.0005	0	0.826	0.02913	T	0.283	0.21612	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.71	0.44315	L	2.67	0.12473	T	-0.85	0.23156	N	0.162	0.25377	-1.0311	0.20099	T	0.038	0.16548	T	9	0.05737266	0.06580	T	6.7E-4	0.00383	T	0.066	0.19193	0.698	0.83499	0.16115917748	0.15686	0.10525158950099638	0.10455	0.0238137571014	0.02414	.	.	.	0.002523	0.01914	T	-0.313722	0.07424	T	-0.688417	0.06481	T	0.120045120196503	0.14434	T	0.564843	0.19943	T	0.06523243	0.13921	0.056585502	0.10137	0.06523243	0.13920	0.056585502	0.10137	-5.305	0.39993	T	.	.	0.203	0.44682	B	.;.;.;.;.	.;.;.;.;.	0.243443	0.06232	2.687	0.96375077285061395	0.29597	0.00284	0.01530	N	AEFI	0.034589	0.04311	N	-0.999019992406806	0.08625	0.4051179	-1.174052176649	0.06346	0.3051872	1.09731146299496E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	0.1	0.13817	-0.869000	0.04340	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3406:0.0:0.6594	2.779	0.05026	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	189.33	35	chr19	43176069	.	T	G	189.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.769;DP=1985;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.85;MQRankSum=-6.306;QD=0.48;ReadPosRankSum=3.82;SOR=0.752	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:365,31:396:99:0|1:43176063_C_T:203,0,14835:43176063	18	0	1	0
chr19	43261928	43261928	G	C	exonic	PSG9	.	nonsynonymous SNV	PSG9:NM_001301708:exon3:c.C641G:p.P214R,PSG9:NM_002784:exon3:c.C641G:p.P214R	.	9	1510	3	0	0	3	0.000992392	.	.	.	2391300	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.00159154060629	.	.	3.295e-05	0	8.637e-05	0	0	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs765310727	3.284e-05	3.284e-05	2.995e-05	3.575e-05	0.0010	2.543e-05	2.249e-05	0.0005	0.0003	0	6.708e-05	0	0	0	0.0010	1.529e-05	3.312e-05	0.0002	2.63e-05	2.627e-05	1.286e-05	4.038e-05	0.0002	8.15e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.412e-05	0	0.0002	0.001	0.78490	D	0.58	0.51421	T	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.865	0.83145	M	2.81	0.10975	T	-5.57	0.92128	D	0.287	0.37509	-1.1345	0.01579	T	0.069	0.28147	T	9	0.29025412	0.46606	T	0.001592	0.02548	T	0.111	0.31313	0.528	0.63412	0.191931220699	0.18833	0.16522076772250197	0.16442	0.0245335028444	0.02488	0.390340268612	0.23718	T	0.072227	0.34403	T	-0.253094	0.13721	T	-0.4198	0.31098	T	0.793900609016418	0.45945	D	0.592841	0.21881	T	0.17447454	0.38253	0.2349769	0.48729	0.17447454	0.38252	0.2349769	0.48728	-8.063	0.61499	D	.	.	0.163	0.37102	B	.;.;.;.	.;.;.;.	1.213950	0.16070	12.30	0.99610067287569026	0.74753	0.03983	0.09398	N	AEFI	0.061091	0.11654	N	-0.128468602808888	0.36155	2.086142	-0.383678361149301	0.25483	1.401692	1.28980055353825E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	2.12	2.12	0.26372	0.335000	0.19546	.	.	0.255000	0.18354	0.007000	0.17678	0.000000	0.08366	0.099000	0.18236	0.0:0.0:1.0:0.0	7.896	0.28871	830	0.39242	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	.	.	.	.	.	.	.	.	0.02632	3717.33	34	chr19	43261928	.	G	C	3717.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.053;DP=1446;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.12;MQRankSum=-0.21;QD=11.1;ReadPosRankSum=-0.049;SOR=0.712	GT:AD:DP:GQ:PL	0/1:180,155:335:99:3731,0,4769	18	0	1	0
chr19	44081096	44081096	T	C	exonic	ZNF284	.	nonsynonymous SNV	ZNF284:NM_001037813:exon3:c.T97C:p.Y33H	.	429	1059	33	1	0	35	0.0162564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	.	0.0026	0.00299521	0.0040	9.612e-05	0.0007	0.0001	0	0.0035	0.0055	0.0144	0.0034928	540	154602	rs200252807	0.0022	0.0022	0.0019	0.0026	0.0142	0.0022	0.0022	0.0136	0.0133	2.989e-05	0.0006	0.0327	7.56e-05	5.637e-05	0.0076	0.0008	0.0042	0.0142	0.0021	0.0021	0.0018	0.0023	0.0149	0.0019	0.0018	0.0122	0.0111	0.0002	0	0.0010	0.0357	0	0	0.0034	0.0013	0.0028	0.0149	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999744	0.20516	N	2.68	0.78455	M	3.15	0.07820	T	-4.41	0.77391	D	0.833	0.82862	-1.0953	0.04709	T	0.076	0.30522	T	9	0.010199189	0.00228	T	.	.	.	0.204	0.49076	.	.	0.347217280506	0.34334	0.3909353900795616	0.39008	0.263362769857	0.28890	0.538397312164	0.44219	T	0.025173	0.18878	T	-0.366003	0.03802	T	-0.286838	0.46101	T	0.101037793179473	0.12471	T	0.760924	0.38541	T	0.47300163	0.65475	0.4574436	0.68470	0.47300163	0.65475	0.4574436	0.68471	-8.649	0.65411	D	.	.	0.684	0.72315	P	.	.	3.128092	0.42255	21.5	0.996016645120815	0.74219	0.50088	0.28582	D	AEFDGBI	0.075101	0.15072	N	0.22012002918773	0.52175	3.393368	-0.0357576965561809	0.38114	2.240851	7.25890864065083E-4	0.07704	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.491896	0.07777	0	.	.	1.64	1.64	0.22949	1.750000	0.37956	.	.	0.497000	0.22564	1.000000	0.71638	0.003000	0.18671	0.132000	0.19645	0.0:0.0:0.0:1.0	5.343	0.15295	622	0.65860	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	0.008056	0.000000	0.002717	0.011696	0.000000	0.000000	0.015244	0.015152	0.02632	4224.33	43	chr19	44081096	.	T	C	4224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.91;DP=1023;ExcessHet=0;FS=3.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.42;ReadPosRankSum=-1.202;SOR=0.87	GT:AD:DP:GQ:PL	0/1:137,156:293:99:4238,0,3476	18	0	1	0
chr19	44176104	44176104	C	G	exonic	ZNF226	.	nonsynonymous SNV	ZNF226:NM_001032372:exon6:c.C842G:p.T281R,ZNF226:NM_001032373:exon6:c.C842G:p.T281R,ZNF226:NM_001319088:exon6:c.C842G:p.T281R,ZNF226:NM_001319090:exon6:c.C842G:p.T281R,ZNF226:NM_001319089:exon7:c.C842G:p.T281R,ZNF226:NM_016444:exon7:c.C842G:p.T281R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.0067102173155	.	.	8.294e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs749916009	1.368e-05	1.368e-05	1.089e-05	1.65e-05	2.236e-05	8.94e-06	7.26e-06	9.31e-06	7.61e-06	0	2.236e-05	0	0	0	0	1.529e-05	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413	0.10052	T	0.49	0.11551	T	0.954	0.54400	P	0.779	0.57244	P	0.067221	0.02209	N	2.277220	1	0.08975	N	-0.28	0.03718	N	0.19	0.60236	T	-1.75	0.41428	N	0.093	0.10056	-0.8033	0.54950	T	0.207	0.56622	T	10	0.23441923	0.40482	T	0.00671	0.17727	T	0.111	0.31313	0.275	0.22687	0.766466052208	0.76432	0.02573657614020103	0.02524	0.0190548153064	0.01861	0.212014704943	0.00900	T	0.007146	0.06566	T	-0.321201	0.06800	T	-0.602306	0.12618	T	0.123796261847019	0.14797	T	0.263074	0.04257	T	0.0409902	0.05955	0.0485277	0.07226	0.0409902	0.05954	0.0485277	0.07225	-3.697	0.19274	T	.	.	0.075	0.05890	B	.;.;.	.;.;.	0.751001	0.11205	7.840	0.80971451279899676	0.13457	0.15978	0.19173	N	AEFDBCI	0.079602	0.16080	N	-0.484215938806411	0.22598	1.207746	-0.710190905251415	0.16707	0.885076	0.145854817451981	0.17356	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.28	-4.58	0.03168	-0.831000	0.04512	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.704000	0.34264	0.1434:0.5106:0.0:0.346	6.084	0.19179	906	0.23090	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	.	.	.	.	.	.	.	.	0.02632	2639.33	33	chr19	44176104	.	C	G	2639.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.686;DP=829;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.306;SOR=0.733	GT:AD:DP:GQ:PL	0/1:101,101:202:99:2653,0,2737	18	0	1	0
chr19	49182608	49182608	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon6:c.G232A:p.A78T,TRPM4:NM_001321281:exon9:c.G949A:p.A317T,TRPM4:NM_001321283:exon9:c.G772A:p.A258T,TRPM4:NM_001195227:exon11:c.G1294A:p.A432T,TRPM4:NM_017636:exon11:c.G1294A:p.A432T	Progressive familial heart block, type IB, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	44160	Brugada_syndrome|not_specified|Progressive_familial_heart_block_type_IB|not_provided|Progressive_familial_heart_block,_type_1A|Cardiovascular_phenotype	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MedGen:CN169374|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MedGen:C3661900|MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.936	0.441204065499	0.0007	0.000399361	0.0005	0	0.0016	0	0	0.0006	0.0022	0.0002	0.0004981	77	154602	rs201907325	0.0003	0.0003	0.0003	0.0003	0.0165	0.0003	0.0003	0.0138	0.0128	0.0004	0.0011	0.0002	0	3.765e-05	0.0165	0.0002	0.0011	0.0003	0.0005	0.0005	0.0005	0.0005	0.0022	0.0004	0.0004	0.0016	0.0014	4.812e-05	0	0.0022	0.0003	0	0	0.0306	0.0003	0.0024	0.0002	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.994571	0.46054	D	3.75	0.95014	H	-3.65	0.95179	D	-3.73	0.70920	D	0.931	0.93605	1.061	0.98362	D	0.917	0.97237	D	10	0.57386726	0.65469	D	0.441204	0.94168	D	0.936	0.98563	.	.	0.969639277537	0.96931	0.7712721926761618	0.77077	0.951829843149	0.72665	0.615200996399	0.55051	T	0.87695	0.97389	D	0.229112	0.76638	D	0.505886	0.94742	D	0.22107050864626	0.21517	T	0.874313	0.59062	D	0.73118526	0.79790	0.6919338	0.81870	0.79244655	0.83428	0.6287725	0.78351	-12.115	0.86430	D	.	.	0.588	0.70414	P	.;.	.;.	5.223865	0.87673	29.3	0.99905667910186702	0.97651	0.97328	0.74058	D	AEFDBI	0.771559	0.70615	D	0.662261753085294	0.77164	6.622359	0.584479128384237	0.73826	6.034571	0.996793260373016	0.35014	0.706548	0.73137	0	0.547309	0.14657	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.18	4.18	0.48473	5.062000	0.64156	11.517000	0.93029	0.652000	0.53365	0.998000	0.41325	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	13.848	0.62976	724	0.55085	.;.	.	.	.	.	.	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	0.009511	0.023392	0.000000	0.034483	0.003049	0.003788	0.02632	1991.33	37	chr19	49182608	.	G	A	1991.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=892;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=0.007;SOR=0.775	GT:AD:DP:GQ:PL	0/1:77,76:153:99:2005,0,1842	18	0	1	0
chr19	49188641	49188641	G	A	exonic	TRPM4	.	nonsynonymous SNV	TRPM4:NM_001321285:exon8:c.G682A:p.G228S,TRPM4:NM_001321281:exon11:c.G1399A:p.G467S,TRPM4:NM_001321283:exon11:c.G1222A:p.G408S,TRPM4:NM_001321282:exon12:c.G136A:p.G46S,TRPM4:NM_001195227:exon13:c.G1744A:p.G582S,TRPM4:NM_017636:exon13:c.G1744A:p.G582S	Progressive familial heart block, type IB, Autosomal dominant	0	1512	10	0	0	10	0.00329598	0.0689	0.292	.	44159	Brugada_syndrome|Progressive_familial_heart_block_type_IB|Progressive_familial_heart_block,_type_1A|not_specified|Cardiovascular_phenotype|not_provided	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|MONDO:MONDO:0011474,MedGen:C1970298,OMIM:604559,Orphanet:871|MONDO:MONDO:0007240,MedGen:C1879286,OMIM:113900,Orphanet:871|MedGen:CN169374|MedGen:CN230736|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.346	0.0587369708908	0.0007	0.000399361	0.0005	0	0.0016	0	0	0.0006	0.0022	0.0002	0.0005239	81	154602	rs172149856	0.0004	0.0004	0.0003	0.0004	0.0187	0.0003	0.0003	0.0159	0.0148	0.0005	0.0011	0.0002	0	3.744e-05	0.0187	0.0002	0.0012	0.0004	0.0005	0.0005	0.0005	0.0005	0.0022	0.0004	0.0004	0.0016	0.0014	4.812e-05	0	0.0022	0.0003	0.0002	0	0.0272	0.0004	0.0024	0.0004	0.54	0.06802	T	0.198	0.27767	T	0.031	0.27048	B	0.022	0.32014	B	0.008555	0.30785	N	0.305518	0.873662	0.30748	N	2.26	0.64354	M	-0.69	0.72678	T	-0.92	0.24676	N	0.736	0.73645	-0.5215	0.67858	T	0.278	0.64936	T	9	0.122550696	0.23251	T	0.058737	0.67421	D	0.346	0.66769	.	.	0.845382614911	0.84390	0.5028328119573782	0.50205	0.323987150426	0.34555	0.693807482719	0.66253	T	0.157972	0.50080	T	-0.0767316	0.40243	T	0.0665631	0.74681	D	0.0210352330281828	0.00804	T	0.79912	0.44420	T	0.12536728	0.29390	0.08490786	0.19568	0.13705452	0.31748	0.086858	0.20151	-9.277	0.69463	D	.	.	0.138	0.36436	B	.;.	.;.	2.512285	0.32452	19.05	0.98112427699294635	0.38367	0.84878	0.43971	D	AEFDBCI	0.483744	0.52406	N	-0.0465788964203101	0.39754	2.349606	0.0219845822298943	0.40738	2.436016	0.0458505707760079	0.14668	0.615465	0.37627	0	0.547309	0.14657	0	0.491614	0.08109	1	0.655142	0.61905	0	.	.	4.37	3.31	0.37025	4.467000	0.59889	5.496000	0.48760	0.655000	0.54021	1.000000	0.71638	1.000000	0.68203	0.424000	0.27317	0.0901:0.0:0.9099:0.0	11.838	0.51611	742	0.52873	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	0.009511	0.023392	0.000000	0.043103	0.003049	0.003788	0.02632	1352.33	44	chr19	49188641	.	G	A	1352.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.847;DP=802;ExcessHet=0;FS=1.474;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-1.787;SOR=0.54	GT:AD:DP:GQ:PL	0/1:63,57:120:99:1366,0,1552	18	0	1	0
chr19	50278128	50278128	G	T	exonic	MYH14	.	nonsynonymous SNV	MYH14:NM_024729:exon28:c.G3748T:p.V1250L,MYH14:NM_001077186:exon29:c.G3772T:p.V1258L,MYH14:NM_001145809:exon30:c.G3871T:p.V1291L	Deafness, autosomal dominant 4A, Autosomal dominant	1	1495	24	2	0	28	0.00927767	.	.	.	350272	not_provided|MYH14-related_disorder|Autosomal_dominant_nonsyndromic_hearing_loss_4A	MedGen:C3661900|.|MONDO:MONDO:0010915,MedGen:C1833503,OMIM:600652,Orphanet:90635	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.161	0.0276819235757	0.0007	0.000599042	0.0009	0	0.0007	0	0	0.0004	0	0.0046	0.0006856	106	154602	rs202242879	0.0005	0.0005	0.0003	0.0007	0.0044	0.0005	0.0004	0.0040	0.0039	3.007e-05	0.0004	0	0	0	0.0017	0.0002	0.0008	0.0044	0.0003	0.0004	0.0003	0.0004	0.0031	0.0003	0.0002	0.0019	0.0015	4.811e-05	0	0.0003	0	0	0	0	0.0004	0.0019	0.0031	0.561	0.06361	T	0.739	0.19188	T	0.005	0.30455	B	0.006	0.22741	B	.	.	.	.	0.993289	0.23740	N	0.655	0.16177	N	-1.17	0.78199	T	-0.39	0.13611	N	0.372	0.42737	-0.9688	0.37448	T	0.179	0.52458	T	9	0.008254945	0.00187	T	0.027682	0.50460	D	0.161	0.41658	0.532	0.64002	0.694429665094	0.69179	0.1476503461638704	0.14687	0.152353913493	0.17194	0.686698257923	0.65230	T	0.115396	0.43395	T	-0.36413	0.03902	T	-0.295969	0.45148	T	0.0166452478240921	0.00423	T	0.867413	0.56831	D	0.088014625	0.20517	0.19030067	0.42425	0.09887534	0.23328	0.22415437	0.47317	-3.287	0.13570	T	0.11419704912702887	0.10080	0.191	0.44669	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.076593	0.41376	21.3	0.8761747199626374	0.17357	0.44019	0.27226	N	AEFDBI	0.337859	0.43552	N	-0.541350272907762	0.20755	1.096517	-0.394565273123147	0.25158	1.381879	9.43938364382813E-4	0.08042	0.695654	0.57023	0	0.610034	0.51514	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.78	3.78	0.42629	2.154000	0.41917	7.195000	0.57783	0.671000	0.69459	0.962000	0.33725	1.000000	0.68203	0.996000	0.76049	0.1192:0.0:0.8808:0.0	7.375	0.25998	740	0.53092	.;.;Myosin tail;.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	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	0.001511	0.000000	0.000000	0.000000	0.050000	0.000000	0.006098	0.000000	0.02632	1800.33	35	chr19	50278128	.	G	T	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.799;DP=877;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.85;ReadPosRankSum=-1.294;SOR=0.693	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1814,0,1396	18	0	1	0
chr19	51389046	51389046	G	C	exonic	C19orf84	.	nonsynonymous SNV	C19orf84:NM_001193623:exon2:c.C499G:p.R167G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0122941400881	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.227e-07	6.84e-07	0	1.465e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.727e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	0.054	0.02559	.	.	.	.	.	.	.	0.086634725	0.14747	T	0.012294	0.30730	T	.	.	.	.	0.507867570733	0.50426	0.024241964456794798	0.02375	.	.	.	.	.	0.061567	0.31688	T	-0.403495	0.02196	T	-0.817369	0.01506	T	.	.	.	0.322868	0.06576	T	0.07199786	0.15981	0.082996145	0.18986	0.07199786	0.15981	0.082996145	0.18986	-3.084	0.11113	T	.	.	0.066	0.02228	B	.;.	.;.	-0.009150	0.04221	1.034	0.96114525834641351	0.28754	0.00933	0.03615	N	AEFDBI	0.064445	0.12515	N	.	.	.	.	.	.	0.999590761060133	0.40745	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.87	-4.18	0.03584	-1.818000	0.01811	.	.	-0.109000	0.15193	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.401:0.2145:0.3845	7.893	0.28849	982	0.03397	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1053.33	34	chr19	51389046	.	G	C	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.813;DP=905;ExcessHet=0;FS=0.756;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0.258;SOR=0.854	GT:AD:DP:GQ:PL	0/1:59,43:102:99:1067,0,1498	18	0	1	0
chr19	52384822	52384822	-	ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1242_1243insATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG:p.K415Mfs*11	.	493	994	8	0	27	35	0.00400802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0.0006	0	0.0002	0	0.0001	3.84e-05	1	26028	rs773157264	0.0013	0.0029	0.0013	0.0014	0.0027	0.0013	0.0012	0.0020	0.0019	0.0016	0.0014	0.0030	0.0025	0.0026	0.0027	0.0012	0.0024	0.0006	0.0056	0.0093	0.0068	0.0044	0.0079	0.0052	0.0050	0.0059	0.0056	0.0046	0.0065	0.0058	0.0047	0.0036	0.0043	0.0104	0.0066	0.0044	0.0079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	462.83	119	chr19	52384822	.	C	CATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	462.83	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.14;DP=1252;ExcessHet=0;FS=11.168;InbreedingCoeff=-0.1871;MLEAC=2;MLEAF=0.111;MQ=56.82;MQRankSum=-3.232;QD=12.18;ReadPosRankSum=-1.712;SOR=3.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,13:38:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:471,0,989:52384817	8	0	1	10
chr19	52583152	52583152	C	T	exonic	ZNF701	.	nonsynonymous SNV	ZNF701:NM_018260:exon4:c.C1093T:p.R365C,ZNF701:NM_001172655:exon5:c.C1291T:p.R431C	.	406	1111	5	0	0	5	0.00224517	.	.	.	3642306	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00164060875435	7.7e-05	0.000199681	0.0002	0.0002	0	0.0002	0	0.0001	0.0011	0.0009	0.0001876	29	154602	rs368856235	0.0002	0.0002	0.0001	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	5.975e-05	2.236e-05	0	0.0002	1.872e-05	0.0010	0.0001	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0004	0.0002	0.0001	0	6.547e-05	0	0.0010	0	0	0.0002	0	0.0008	0.204	0.23631	T	0.203	0.27591	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.53	0.38800	L	3.18	0.07478	T	-1.63	0.39119	N	0.133	0.12913	-1.0196	0.23845	T	0.026	0.11131	T	9	0.024012655	0.00646	T	0.001641	0.02676	T	0.020	0.03691	.	.	0.115124310173	0.11017	0.031547856286475856	0.03103	0.247308602745	0.27277	0.270763903856	0.06241	T	0.056707	0.30362	T	-0.629966	0.00096	T	-0.755666	0.03270	T	0.0419306411651508	0.04043	T	0.166283	0.01566	T	0.0648357	0.13796	0.044626057	0.05823	0.0648357	0.13796	0.044626057	0.05823	-5.128	0.38450	T	.	.	0.395	0.63632	A	.;.;.	.;.;.	0.377535	0.07495	4.139	0.97927292310266356	0.36928	0.00397	0.01986	N	AEFGBI	0.045348	0.07407	N	-1.16957599007073	0.05465	0.2492175	-1.36845156938384	0.03593	0.1679146	2.80630400948557E-4	0.06300	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.87	-0.797	0.10358	-7.242000	0.00051	.	.	-2.839000	0.00176	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2115:0.652:0.0:0.1365	4.655	0.12000	988	0.01987	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001058	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2282.33	93	chr19	52583152	.	C	T	2282.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.33;DP=2638;ExcessHet=0;FS=2.48;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=52.73;MQRankSum=-2.601;QD=11.76;ReadPosRankSum=2.31;SOR=0.531	GT:AD:DP:GQ:PL	0/1:105,89:194:99:2296,0,2453	18	0	1	0
chr19	52841624	52841624	A	G	exonic	ZNF468	.	nonsynonymous SNV	ZNF468:NM_001008801:exon4:c.T670C:p.F224L	.	428	1090	4	0	0	4	0.0018315	.	.	.	2424084	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.000841005756866	7.7e-05	.	0.0001	0	0	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs139254214	5.541e-05	5.541e-05	4.22e-05	6.876e-05	0.0010	4.543e-05	4.155e-05	0.0005	0.0003	0	0	0	0	0	0.0010	4.407e-05	0.0001	0.0002	7.227e-05	7.223e-05	0.0001	2.69e-05	0.0004	3.971e-05	3.127e-05	7.293e-05	4.239e-05	2.413e-05	0	0	0	0	0	0	0.0001	0	0.0004	.	.	.	0.049	0.48336	D	0.047	0.21998	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	2.945	0.84822	M	1.63	0.28002	T	.	.	.	0.119	0.10911	-1.0113	0.26510	T	0.062	0.25780	T	9	0.050820827	0.04872	T	8.41E-4	0.00713	T	.	.	0.678	0.81594	0.219573609325	0.21563	0.018027578589710012	0.01756	0.0844795135014	0.09542	0.385478794575	0.23030	T	0.081338	0.36573	T	-0.506025	0.00529	T	-0.664323	0.07978	T	0.0587328249630364	0.06967	T	0.121488	0.00940	T	0.13181189	0.30711	0.14863595	0.35127	0.13181189	0.30711	0.14863595	0.35126	-6.113	0.47215	T	.	.	0.560	0.67195	A	.	.	1.740220	0.22144	15.50	0.93694404375055806	0.23602	0.07542	0.13555	N	AEFBCI	0.027920	0.02366	N	-0.951403091134724	0.09661	0.4582219	-1.07215851113756	0.08251	0.4048966	1.55513053068137E-5	0.02871	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.49	0.368	0.15378	-0.089000	0.11146	.	.	0.386000	0.20455	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.8254:0.0:0.1746:0.0	5.254	0.14855	982	0.03397	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	3038.33	35	chr19	52841624	.	A	G	3038.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.46;DP=3029;ExcessHet=0;FS=2.277;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.822;SOR=0.558	GT:AD:DP:GQ:PL	0/1:109,111:220:99:3052,0,3057	18	0	1	0
chr19	53165146	53165146	A	C	exonic	ZNF665	.	nonsynonymous SNV	ZNF665:NM_001353459:exon4:c.T1344G:p.H448Q,ZNF665:NM_024733:exon4:c.T1344G:p.H448Q,ZNF665:NM_001353457:exon5:c.T1338G:p.H446Q,ZNF665:NM_001353458:exon5:c.T1428G:p.H476Q	.	.	.	.	.	.	.	.	.	.	.	2363848	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.238	0.00390050597183	0.0005	.	0.0002	0	0	0	0	0.0003	0	0	0.0001229	19	154602	rs200870552	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	5.974e-05	2.236e-05	0.0015	0	0	0.0009	0.0002	0.0002	8.115e-05	0.0001	0.0001	0.0001	0.0001	0.0002	8.172e-05	6.728e-05	0.0001	8.877e-05	2.415e-05	0	0	0.0009	0	0	0	0.0002	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.08975	N	3.4	0.91674	M	-2.18	0.86722	D	-7.84	0.96032	D	0.547	0.57348	0.133	0.84761	D	0.829	0.94270	D	9	0.130846	0.24901	T	0.003901	0.09180	T	0.238	0.54217	0.739	0.87147	0.834823053897	0.83324	0.22054954800297555	0.21969	0.231121841652	0.25661	0.620276093483	0.55768	T	0.32664	0.69724	T	-0.127098	0.31967	T	-0.118622	0.61916	T	0.377781900529469	0.28097	T	0.455254	0.13307	T	0.45770797	0.64528	0.36907533	0.62185	0.45770797	0.64529	0.36907533	0.62184	.	.	.	.	.	0.987	0.92711	P	.;.	.;.	2.534202	0.32768	19.14	0.94914043276765314	0.25779	0.00977	0.03727	N	AEFGBCI	0.143397	0.26609	N	-0.147977933381829	0.35321	2.027292	-0.534580087485333	0.21217	1.146698	3.73104230699782E-5	0.03775	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	2.38	0.086	0.13753	-0.116000	0.10697	.	.	0.614000	0.49286	0.003000	0.16062	0.000000	0.08366	0.016000	0.10718	0.6128:0.0:0.3872:0.0	6.486	0.21287	994	0.00715	.;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	0.002518	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1808.33	140	chr19	53165146	.	A	C	1808.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.88;DP=2369;ExcessHet=0;FS=1.901;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.755;SOR=0.889	GT:AD:DP:GQ:PL	0/1:111,69:180:99:1822,0,2998	18	0	1	0
chr19	53491652	53491652	A	G	exonic	ZNF813	.	nonsynonymous SNV	ZNF813:NM_001004301:exon4:c.A1420G:p.K474E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.00377034837224	.	.	8.275e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs765982847	1.368e-06	1.368e-06	0	2.751e-06	5.975e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	4.822e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999991	0.58761	D	1.545	0.39105	L	1.69	0.27032	T	-3.47	0.67824	D	0.117	0.10626	-1.0531	0.13547	T	0.109	0.39392	T	9	0.2280429	0.39698	T	0.00377	0.08775	T	0.163	0.42028	0.526	0.63115	0.112648838833	0.10856	0.02483648755664474	0.02434	0.156839385408	0.17710	0.384775400162	0.22931	T	0.010815	0.09727	T	-0.318859	0.06991	T	-0.514267	0.20878	T	0.75772613286972	0.43722	D	0.0888911	0.00655	T	0.33176813	0.55616	0.19078176	0.42500	0.33176813	0.55616	0.19078176	0.42499	-8.055	0.61445	D	.	.	0.565	0.67424	P	.	.	2.528290	0.32681	19.12	0.95898874714048221	0.28125	0.80194	0.39897	D	AEFBI	.	.	.	-0.16914161944236	0.34424	1.964652	-0.439168728959782	0.23857	1.303267	4.49671087064988E-5	0.03989	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.15	1.15	0.19876	2.414000	0.44281	.	.	0.378000	0.20387	0.083000	0.22414	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	6.859	0.23239	994	0.00715	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1583.33	259	chr19	53491652	.	A	G	1583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.157;DP=3840;ExcessHet=0;FS=4.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=0.262;SOR=0.444	GT:AD:DP:GQ:PL	0/1:105,67:172:99:1597,0,2951	18	0	1	0
chr19	54775215	54775215	G	A	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G421A:p.A141T,KIR2DL1:NM_014218:exon4:c.G421A:p.A141T,KIR2DS1:NM_014512:exon4:c.G421A:p.A141T,KIR2DS5:NM_014513:exon4:c.G421A:p.A141T	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00117393255529	0.0011	0.000798722	0.0016	0	0	0	0.0013	0.0025	0	0.0011	0.0011837	183	154602	rs145961423	0.0010	0.0010	0.0010	0.0010	0.0012	0.0010	0.0010	0.0011	0.0011	3e-05	0.0002	3.856e-05	0	0.0007	0.0009	0.0012	0.0012	0.0006	0.0010	0.0011	0.0013	0.0008	0.0018	0.0009	0.0009	0.0016	0.0015	0.0002	0	0.0005	0	0	0.0012	0	0.0018	0.0010	0.0009	0.0	0.91255	D	0.289	0.32675	T	0.092	0.25296	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	5.79	0.00674	T	-1.3	0.32991	N	0.042	0.01498	-0.9599	0.39199	T	0.004	0.01295	T	9	0.017508984	0.00374	T	0.001174	0.01484	T	0.047	0.12962	.	.	0.260249123532	0.25628	0.028690834850511153	0.02819	1.00069180223	0.74397	0.299282133579	0.10294	T	0.015341	0.12888	T	-0.409288	0.02009	T	-0.570644	0.15391	T	0.023345254044341	0.01064	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.22969	B	.;.	.;.	-0.119776	0.03524	0.670	0.92586597089231137	0.22045	0.00179	0.01050	N	AEFBI	0.026577	0.02021	N	-0.96526322081052	0.09353	0.4423121	-1.16727201946587	0.06463	0.3111972	1.74648239061446E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.929	-0.529	0.11307	-1.657000	0.02081	.	.	-0.590000	0.04653	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.4242:0.5758	3.676	0.07827	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	0.000563	0.000000	0.004286	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	3152.33	316	chr19	54775215	.	G	A	3152.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.542;DP=5420;ExcessHet=0;FS=1.477;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.9;MQRankSum=1.31;QD=11.46;ReadPosRankSum=-0.72;SOR=0.81	GT:AD:DP:GQ:PL	0/1:149,126:275:99:3166,0,3998	18	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,92:92:99:.:.:4088,284,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,92:92:99:.:.:4088,284,0:.	0	15	4	0
chr19	55401542	55401542	G	A	exonic	UBE2S	.	nonsynonymous SNV	UBE2S:NM_014501:exon4:c.C563T:p.P188L	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	.	0.0035	0.0005	0.0009	0.0001	0.0113	0.0043	0.0025	0.0024	0.0006986	108	154602	rs201696148	0.0048	0.0052	0.0050	0.0046	0.0051	0.0047	0.0047	0.0050	0.0050	0.0007	0.0012	7.664e-05	0.0001	0.0154	0.0040	0.0051	0.0035	0.0026	0.0046	0.0046	0.0041	0.0052	0.0056	0.0043	0.0042	0.0051	0.0049	0.0009	0.0121	0.0017	0.0003	0.0002	0.0211	0.0102	0.0056	0.0047	0.0027	0.419	0.09866	T	0.056	0.46632	T	0.004	0.12183	B	0.001	0.04355	B	0.223154	0.16091	N	0.647030	1	0.18198	N	0.895	0.22405	L	0.42	0.56937	T	-0.17	0.09627	N	0.095	0.07535	-1.0207	0.23486	T	0.066	0.27191	T	10	0.0032718182	0.00056	T	.	.	.	0.022	0.04323	.	.	0.335408717102	0.33150	0.19507620518654065	0.19425	1.14787012737	0.79117	0.729847192764	0.71483	T	0.039526	0.25219	T	-0.581538	0.00189	T	-0.59872	0.12919	T	0.000760786096918909	0.00007	T	0.534647	0.17878	T	0.021973992	0.00830	0.026001774	0.00668	0.021973992	0.00830	0.026001774	0.00668	-4.952	0.36314	T	.	.	0.070	0.03515	B	.	.	0.719550	0.10887	7.559	0.71557250479792134	0.09669	0.25199	0.22627	N	AEFBCI	0.096203	0.19425	N	-1.3761434326449	0.02862	0.127034	-1.4188001409556	0.03064	0.1422115	0.884830348536742	0.25703	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	3.5	-3.22	0.04808	0.186000	0.16787	-0.096000	0.11999	-0.254000	0.07082	0.054000	0.21560	0.000000	0.08366	0.065000	0.16320	0.587:0.0:0.413:0.0	9.115	0.35914	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003261	0.000000	0.004076	0.004274	0.000000	0.000000	0.000000	0.003846	0.02632	956.33	38	chr19	55401542	.	G	A	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.728;DP=720;ExcessHet=0;FS=4.994;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=48.76;MQRankSum=-5.295;QD=14.49;ReadPosRankSum=1.94;SOR=0.757	GT:AD:DP:GQ:PL	0/1:27,39:66:99:970,0,569	18	0	1	0
chr19	55401564	55401564	C	T	exonic	UBE2S	.	nonsynonymous SNV	UBE2S:NM_014501:exon4:c.G541A:p.D181N	.	.	.	.	.	.	.	.	.	.	.	2674100	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.094	0.0860250556264	8.7e-05	0.000199681	9.295e-05	0	0	0	0	3.461e-05	0	0.0005	7.76e-05	12	154602	rs377751817	5.624e-05	5.746e-05	4.368e-05	6.893e-05	0.0005	4.622e-05	4.247e-05	0.0003	0.0003	5.999e-05	8.973e-05	0	2.52e-05	0	0.0005	2.879e-05	8.311e-05	0.0004	6.568e-05	6.562e-05	7.71e-05	5.373e-05	0.0004	3.515e-05	2.615e-05	7.293e-05	3.03e-05	9.622e-05	0	0	0	0	0	0.0034	2.941e-05	0.0005	0.0004	0.19	0.21144	T	0.354	0.17268	T	0.089	0.25085	B	0.004	0.10090	B	0.000699	0.42383	D	0.148973	0.615438	0.30825	N	0.895	0.22405	L	0.35	0.58029	T	-0.71	0.20145	N	0.149	0.15187	-0.9637	0.38468	T	0.081	0.32060	T	10	0.038034618	0.02195	T	0.086025	0.74653	D	0.094	0.27141	.	.	0.590116201424	0.58688	0.3758367452677837	0.37497	1.16890855372	0.79700	0.808097183704	0.83200	D	0.030468	0.21593	T	-0.484258	0.00699	T	-0.590648	0.13610	T	0.0167390368878841	0.00430	T	0.628837	0.24395	T	0.09704739	0.22870	0.049953185	0.07739	0.09704739	0.22870	0.049953185	0.07738	-4.885	0.35566	T	.	.	0.096	0.15206	B	.	.	2.249156	0.28726	17.89	0.98869539086862179	0.47615	0.52353	0.29111	D	AEFBCI	0.088958	0.18033	N	-0.498730496927148	0.22123	1.179039	-0.426143758840795	0.24234	1.325894	0.961015644605165	0.28526	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.03	2.91	0.32903	1.043000	0.29926	4.589000	0.43950	0.524000	0.24156	0.107000	0.22934	1.000000	0.68203	0.009000	0.08673	0.1882:0.8118:0.0:0.0	10.881	0.46145	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	.	.	.	.	.	.	.	.	0.02632	953.33	38	chr19	55401564	.	C	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.308;DP=731;ExcessHet=0;FS=3.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=50.41;MQRankSum=-5.938;QD=14.02;ReadPosRankSum=3.18;SOR=0.467	GT:AD:DP:GQ:PL	0/1:27,41:68:99:967,0,572	18	0	1	0
chr19	56028047	56028047	C	T	exonic	NLRP5	.	nonsynonymous SNV	NLRP5:NM_153447:exon7:c.C1814T:p.P605L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0126382914153	.	.	2.489e-05	0	0	0	0	1.502e-05	0	0.0001	1.94e-05	3	154602	rs753087182	2.737e-06	2.736e-06	1.361e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	2.987e-05	0	0	0	0	0.0002	0	1.656e-05	1.159e-05	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	0.385	0.11015	T	0.648	0.06788	T	0.009	0.15093	B	0.008	0.13708	B	0.020748	0.01539	N	3.034970	1	0.08975	N	0.755	0.19153	N	-0.67	0.72458	T	-1.93	0.44852	N	0.154	0.15888	-0.9900	0.32601	T	0.169	0.50874	T	10	0.082118034	0.13519	T	0.012638	0.31390	T	0.089	0.25827	0.438	0.49157	0.406394481233	0.40250	0.09059805206514152	0.08992	0.024721940984	0.02516	0.195118010044	0.00329	T	0.188785	0.54281	T	-0.295555	0.09086	T	-0.565467	0.15866	T	0.0258927702546253	0.01391	T	0.538446	0.18153	T	0.024784833	0.01345	0.03304058	0.02136	0.024784833	0.01345	0.03304058	0.02135	-5.106	0.37971	T	.	.	0.113	0.22354	B	.;.	.;.	0.164084	0.05541	2.001	0.37960251413547608	0.02532	0.00838	0.03362	N	AEFDBI	0.039545	0.05760	N	-1.59494245352046	0.01290	0.0561554	-1.72232198926038	0.01042	0.04675831	0.0210663181658216	0.13316	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.98	-5.96	0.02047	-1.868000	0.01736	-0.419000	0.09297	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3679:0.3545:0.2776:0.0	5.58	0.16527	969	0.06854	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2563.33	45	chr19	56028047	.	C	T	2563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.726;DP=880;ExcessHet=0;FS=5.357;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.389;SOR=0.414	GT:AD:DP:GQ:PL	0/1:82,97:179:99:2577,0,2220	18	0	1	0
chr19	57874012	57874012	C	T	exonic	ZNF814	.	nonsynonymous SNV	ZNF814:NM_001144989:exon3:c.G1378A:p.G460R	.	435	1086	1	0	0	1	0.000460193	.	.	.	2336968	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00625869876479	0.0007	0.000399361	0.0006	0.0003	0.0007	0.0001	0.0002	0.0006	0	0.0013	0.000511	79	154602	rs374673273	0.0005	0.0005	0.0005	0.0005	0.0023	0.0005	0.0005	0.0013	0.0011	0.0003	0.0005	0	5.045e-05	1.873e-05	0.0023	0.0006	0.0005	0.0009	0.0007	0.0007	0.0007	0.0008	0.0014	0.0006	0.0006	0.0010	0.0008	0.0003	0	0.0014	0	0.0002	0	0	0.0010	0.0019	0.0014	0.044	0.41096	D	0.017	0.60337	D	1.0	0.90584	D	0.985	0.76457	D	.	.	.	.	0.998937	0.21783	N	2.105	0.58435	M	2.08	0.20255	T	-5.47	0.85617	D	0.151	0.15469	-1.0652	0.10502	T	0.110	0.39675	T	9	0.04143551	0.02799	T	0.006259	0.16435	T	0.079	0.23065	0.392	0.41606	0.415947407303	0.41207	0.006756771830456643	0.00642	0.204904108503	0.22910	0.400882065296	0.25191	T	0.235361	0.60260	T	-0.462649	0.00946	T	-0.48778	0.23623	T	0.0896868369934159	0.11180	T	0.665633	0.27494	T	0.17135218	0.37764	0.23438743	0.48654	0.17135218	0.37763	0.23438743	0.48653	-5.259	0.39536	T	.	.	0.432	0.61280	A	.	.	1.301308	0.17030	12.92	0.91863523700817329	0.21178	0.28267	0.23507	N	AEFDBCI	0.103650	0.20761	N	-0.0716193249416549	0.38640	2.266281	-0.320217882423704	0.27446	1.523022	0.970431621332855	0.29207	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.592323	0.36904	0	.	.	1.88	1.88	0.24630	1.212000	0.31999	.	.	0.310000	0.19122	0.010000	0.18352	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	10.771	0.45521	982	0.03397	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	0.003021	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2936.33	74	chr19	57874012	.	C	T	2936.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=1358;ExcessHet=0;FS=1.005;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.74;SOR=0.786	GT:AD:DP:GQ:PL	0/1:122,111:233:99:2950,0,3161	18	0	1	0
chr19	58569396	58569396	C	G	exonic	MZF1	.	nonsynonymous SNV	MZF1:NM_001267033:exon5:c.G653C:p.R218T,MZF1:NM_003422:exon5:c.G653C:p.R218T,MZF1:NM_198055:exon5:c.G653C:p.R218T	.	.	.	.	.	.	.	.	0.0002	0.052	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00270884691847	.	.	8.249e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs200449491	3.42e-06	3.42e-06	4.084e-06	2.75e-06	5.797e-05	1e-06	7.3e-07	2.194e-05	1.43e-05	0	0	0	0	0	0	0	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.624	0.05245	T	0.575	0.08654	T	0.001	0.07471	B	0.001	0.04355	B	0.738183	0.06411	N	1.175380	1	0.08975	N	0	0.06538	N	4.21	0.06445	T	0.33	0.03889	N	0.198	0.29774	-0.9213	0.45376	T	0.007	0.02518	T	9	0.0682354	0.09622	T	0.002709	0.05579	T	0.017	0.02790	0.348	0.34436	0.139678290688	0.13603	0.08854700796321084	0.08787	0.0817085112098	0.09202	0.322335481644	0.13774	T	0.079206	0.36074	T	-0.395742	0.02469	T	-0.709378	0.05327	T	0.0165999992110392	0.00421	T	0.665033	0.27384	T	0.06881668	0.15025	0.033612467	0.02284	0.06881668	0.15024	0.033612467	0.02284	-3.063	0.10876	T	.	.	0.073	0.08948	B	.;.;.;.	.;.;.;.	0.689742	0.10586	7.290	0.77284022415734799	0.11812	0.06487	0.12497	N	AEFBHI	0.081529	0.16499	N	-1.18498021746181	0.05227	0.237783	-1.24183260444037	0.05253	0.2498581	0.998833380107385	0.37777	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	3.87	-4.5	0.03247	-0.629000	0.05605	-0.652000	0.08023	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.798000	0.37648	0.1479:0.2801:0.2901:0.2819	0.924	0.01238	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	.	.	.	.	.	.	.	.	0.02632	2180.33	34	chr19	58569396	.	C	G	2180.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.04;DP=781;ExcessHet=0;FS=3.241;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.15;ReadPosRankSum=1.48;SOR=0.802	GT:AD:DP:GQ:PL	0/1:49,86:135:99:2194,0,1170	18	0	1	0
chr20	2865406	2865406	T	C	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.T1750C:p.W584R,VPS16:NM_022575:exon22:c.T2182C:p.W728R	.	429	1043	45	5	0	55	0.0256889	.	.	.	2736087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.688	.	0.0059	0.00359425	0.0068	0.0010	0.0062	0	0.0009	0.0081	0.0077	0.0115	0.0064488	997	154602	rs61729229	0.0057	0.0057	0.0054	0.0061	0.0276	0.0056	0.0056	0.0241	0.0227	0.0018	0.0074	0.0353	2.519e-05	0.0007	0.0276	0.0048	0.0083	0.0113	0.0053	0.0053	0.0052	0.0055	0.0109	0.0050	0.0049	0.0095	0.0090	0.0013	0.0044	0.0109	0.0409	0.0002	0.0006	0.0170	0.0053	0.0147	0.0083	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	2.215	0.62545	M	0.72	0.50976	T	-13.03	0.99887	D	0.778	0.77507	-0.5647	0.66223	T	0.217	0.57915	T	10	0.017725319	0.00380	T	.	.	.	0.688	0.88632	0.91	0.98190	0.727100791208	0.72467	0.896248764703781	0.89595	0.859348079951	0.68892	0.761442005634	0.76143	T	0.258767	0.62995	T	-0.0480361	0.44744	T	0.167618	0.81267	D	0.0540455955808897	0.06196	T	0.769823	0.39947	T	0.9643266	0.97712	0.9436374	0.98003	0.96964383	0.98227	0.9436374	0.98003	-9.093	0.73558	D	.	.	0.978	0.90664	P	.;.	.;.	5.227488	0.87742	29.3	0.99530452978001271	0.69839	0.93689	0.58911	D	AEFDBCI	0.769772	0.70493	D	0.736808766137726	0.82044	7.666397	0.720030717527245	0.83901	8.144543	0.999996139414198	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	5.669000	0.67750	7.938000	0.75364	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	13.810	0.62751	480	0.77422	Vps16, 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	0.015609	0.015152	0.023098	0.020468	0.000000	0.017241	0.006098	0.011364	0.05263	4294.83	35	chr20	2865406	.	T	C	4294.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.026;DP=933;ExcessHet=0.119;FS=5.899;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=0.446;SOR=0.463	GT:AD:DP:GQ:PL	0/1:93,93:186:99:2359,0,2526	17	0	2	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	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:52,31:98:99:110,0,870	3	0	14	2
chr20	20629419	20629419	G	A	exonic	RALGAPA2	.	nonsynonymous SNV	RALGAPA2:NM_020343:exon10:c.C1177T:p.R393W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.0613458733927	0.0006	0.000599042	0.0005	0.0001	0.0002	0	0	0.0009	0.0012	0.0002	0.0005239	81	154602	rs146624131	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0005	0.0007	0.0007	0.0001	0.0003	3.829e-05	0	9.365e-05	0.0003	0.0007	0.0004	0.0002	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0007	0.0002	0	0.0004	0	0	0	0	0.0010	0.0005	0	0.002	0.72154	D	0.007	0.69154	D	0.992	0.64738	D	0.386	0.44011	B	0.004665	0.33505	N	0.318753	0.778797	0.29356	N	2.39	0.68882	M	-1.2	0.78537	T	-4.38	0.77143	D	0.607	0.62442	-0.1406	0.79150	T	0.389	0.74371	T	10	0.15002188	0.28383	T	0.061346	0.68300	D	0.446	0.74797	.	.	0.68229737726	0.67959	0.34712068188213574	0.34626	0.171628982417	0.19330	0.391379654408	0.23864	T	0.260565	0.63195	T	-0.253815	0.13633	T	-0.161991	0.58173	T	0.0494379020581033	0.05402	T	0.976002	0.91601	D	0.23753254	0.46618	0.22960566	0.48037	0.23753254	0.46618	0.22960566	0.48036	-10.864	0.78906	D	.	.	0.170	0.37331	B	.	.	3.759123	0.53924	23.4	0.99909422129263914	0.97949	0.39222	0.26164	N	AEFBI	0.479577	0.52166	N	0.242978456183438	0.53291	3.498792	0.211068541941249	0.50459	3.237898	0.00182879523915105	0.08920	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.24	5.24	0.72863	0.451000	0.21492	6.595000	0.56038	0.676000	0.76740	0.137000	0.23458	1.000000	0.68203	0.892000	0.42986	0.0:0.1391:0.7168:0.1441	10.952	0.46549	457	0.78953	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	1224.33	45	chr20	20629419	.	G	A	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.351;DP=809;ExcessHet=0;FS=1.657;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.406;SOR=0.905	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1238,0,1098	18	0	1	0
chr20	25476122	25476122	C	T	exonic	NINL	.	nonsynonymous SNV	NINL:NM_025176:exon17:c.G3169A:p.D1057N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00796704052043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.133	0.34359	T	0.675	0.41275	P	0.133	0.33073	B	0.823206	0.09162	N	0.923379	1	0.08975	N	1.65	0.42232	L	3.42	0.05507	T	-1.52	0.36980	N	0.121	0.11197	-0.9474	0.41414	T	0.011	0.04321	T	10	0.0941467	0.16718	T	0.007967	0.21136	T	0.076	0.22200	0.092	0.01108	0.110078149338	0.10416	0.19311666960861867	0.19229	0.198273402423	0.22208	0.406642735004	0.25992	T	0.008191	0.07532	T	-0.361732	0.04033	T	-0.75738	0.03207	T	0.215428054332733	0.21233	T	0.622538	0.23960	T	0.06391485	0.13507	0.048494313	0.07215	0.06391485	0.13506	0.048494313	0.07215	-3.965	0.23278	T	.	.	0.089	0.12276	B	.	.	1.496019	0.19239	14.16	0.98866923820823127	0.47580	0.04770	0.10480	N	AEFDBI	0.033156	0.03879	N	-0.630879929709669	0.18021	0.9322891	-0.678397698456998	0.17501	0.9308871	0.006927649907012	0.11343	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.85	3.89	0.44098	1.089000	0.30501	0.676000	0.20636	0.518000	0.23583	0.001000	0.13787	0.000000	0.08366	0.025000	0.12405	0.1799:0.6462:0.174:0.0	8.160	0.30352	575	0.70088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	129.33	97	chr20	25476122	.	C	T	129.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.291;DP=955;ExcessHet=0;FS=77.348;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.81;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,20:149:99:0|1:25476122_C_T:143,0,5122:25476122	18	0	1	0
chr20	25476125	25476125	C	G	exonic	NINL	.	nonsynonymous SNV	NINL:NM_025176:exon17:c.G3166C:p.D1056H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.00580734277635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.744e-06	0.0001	4.096e-06	1.378e-06	2.996e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	2.996e-05	0	0	0	0	0	2.705e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.41637	D	0.059	0.45961	T	0.96	0.55278	D	0.528	0.48482	P	0.195985	0.03284	N	1.533750	1	0.08975	N	1.1	0.28011	L	3.43	0.05440	T	-1.49	0.36385	N	0.129	0.12341	-0.9491	0.41126	T	0.019	0.07939	T	10	0.09664118	0.17349	T	0.005807	0.15101	T	0.135	0.36572	0.102	0.01589	0.139678290688	0.13603	0.2245921728800243	0.22374	0.339693499152	0.35915	0.40783894062	0.26157	T	0.007317	0.06733	T	-0.291793	0.09456	T	-0.656917	0.08476	T	0.402543991804123	0.29038	T	0.442656	0.12286	T	0.06996419	0.15370	0.08780965	0.20434	0.06996419	0.15370	0.08780965	0.20433	-3.567	0.17381	T	.	.	0.100	0.17189	B	.	.	0.742675	0.11122	7.766	0.97284830686555801	0.33200	0.03605	0.08835	N	AEFDBI	0.035488	0.04577	N	-0.788677093669439	0.13605	0.6714041	-0.963758661792625	0.10606	0.5351989	7.78442458984282E-4	0.07793	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.35	-1.14	0.09241	-0.102000	0.10926	-0.047000	0.12595	-0.286000	0.06345	0.001000	0.13787	0.000000	0.08366	0.034000	0.13613	0.0:0.5623:0.0:0.4377	9.381	0.37474	575	0.70088	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	121.37	97	chr20	25476125	.	C	G	121.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.013;DP=2042;ExcessHet=0;FS=79.199;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.03;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,20:152:99:0|1:25476122_C_T:135,0,5178:25476122	18	0	1	0
chr20	25476126	25476126	C	G	exonic	NINL	.	nonsynonymous SNV	NINL:NM_025176:exon17:c.G3165C:p.K1055N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.00678019466524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	3.147e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.045	0.49390	D	0.963	0.55692	D	0.441	0.45749	B	0.120082	0.19049	N	0.529823	1	0.08975	N	1.445	0.36358	L	3.32	0.06214	T	-0.96	0.25551	N	0.131	0.12627	-0.9726	0.36648	T	0.013	0.05225	T	10	0.09060073	0.15797	T	0.00678	0.17925	T	0.051	0.14325	0.132	0.03662	0.148003135375	0.14442	0.42843932893969394	0.42760	0.366699152887	0.38238	0.450374722481	0.31994	T	0.024846	0.18695	T	-0.308192	0.07907	T	-0.680473	0.06954	T	0.297192245721817	0.24887	T	0.50025	0.15636	T	0.18675041	0.40098	0.09504615	0.22525	0.18675041	0.40098	0.09504615	0.22525	-5.633	0.43093	T	.	.	0.393	0.59205	A	.	.	1.866351	0.23708	16.12	0.95538986232915568	0.27183	0.09547	0.15278	N	AEFDBI	0.034554	0.04300	N	-0.521315702925878	0.21391	1.134904	-0.665479994039055	0.17826	0.9496135	0.00116869539571096	0.08293	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.35	2.09	0.26154	0.634000	0.24304	0.352000	0.17487	0.518000	0.23583	0.004000	0.16614	0.000000	0.08366	0.042000	0.14466	0.0:0.661:0.0:0.339	6.851	0.23196	575	0.70088	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.04167	124.7	97	chr20	25476126	.	C	G	124.7	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-4.573;DP=2072;ExcessHet=0;FS=79.199;InbreedingCoeff=-0.1344;MLEAC=1;MLEAF=0.042;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.13;SOR=6.09	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,20:152:99:0|1:25476122_C_T:135,0,5178:25476122	11	0	1	7
chr20	31861644	31861644	T	A	exonic	DUSP15	.	nonsynonymous SNV	DUSP15:NM_001012644:exon7:c.A158T:p.E53V,DUSP15:NM_001320478:exon7:c.A458T:p.E153V,DUSP15:NM_080611:exon7:c.A467T:p.E156V,DUSP15:NM_177991:exon7:c.A158T:p.E53V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.111758020705	.	0.00119808	0.0018	0	0	0	0	0	0	0.0026	0.0001811	28	154602	rs572500091	0.0001	0.0001	7.617e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0	0	0.0001	0.0020	5.716e-05	5.608e-05	1.386e-05	0.0001	0.0018	2.754e-05	2.072e-05	0.0008	0.0006	0	0	0	0	0.0003	0	0	0	0	0.0018	0.025	0.48642	D	0.325	0.32249	T	0.055	0.22733	B	0.037	0.23121	B	.	.	.	.	1	0.81001	D	.	.	.	0.77	0.49642	T	-3.95	0.73477	D	0.26	0.30347	-1.0576	0.12362	T	0.072	0.29387	T	8	0.010066718	0.00225	T	0.111758	0.78965	D	0.025	0.05312	0.321	0.30064	0.408714661073	0.40485	.	.	0.255360491483	0.28129	0.565140008926	0.47992	T	.	.	.	-0.4408	0.01279	T	-0.412431	0.31944	T	0.152144544135135	0.17273	T	0.79912	0.44420	T	.	.	.	.	.	.	.	.	-2.899	0.45393	T	.	.	0.165	0.36375	B	.;.;.;.;.	.;.;.;.;.	3.323908	0.45731	22.2	0.97795185096491721	0.36027	0.29165	0.23749	N	ALL	0.142311	0.26471	N	-0.360034534218825	0.26905	1.472056	-0.298967899182287	0.28132	1.566171	0.999999903837322	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.47417	0.07244	0	0.603991	0.37454	0	.	.	4.06	2.85	0.32333	1.621000	0.36597	4.601000	0.43997	0.519000	0.23678	0.182000	0.24089	1.000000	0.68203	0.879000	0.42020	0.1989:0.0:0.2059:0.5953	4.321	0.10459	656	0.62345	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	311.37	12	chr20	31861644	.	T	A	311.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.416;DP=320;ExcessHet=0;FS=0;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.39;ReadPosRankSum=-0.042;SOR=0.941	GT:AD:DP:GQ:PL	0/1:7,12:19:99:325,0,163	18	0	1	0
chr20	32447809	32447809	C	T	exonic	NOL4L	.	nonsynonymous SNV	NOL4L:NM_001351680:exon9:c.G1175A:p.R392Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.628e-05	0	0	0	0	6.271e-05	0	0	3.23e-05	5	154602	rs745580736	2.632e-05	2.531e-05	2.802e-05	2.456e-05	0.0002	1.942e-05	1.696e-05	8.295e-05	5.946e-05	3.113e-05	0.0002	0	0	0	0	2.404e-05	3.463e-05	1.283e-05	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	915.33	44	chr20	32447809	.	C	T	915.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=748;ExcessHet=0;FS=4.603;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=0.646;SOR=0.448	GT:AD:DP:GQ:PL	0/1:38,33:71:99:929,0,952	18	0	1	0
chr20	33083769	33083769	T	G	exonic	BPIFB4	.	nonsynonymous SNV	BPIFB4:NM_182519:exon3:c.T572G:p.L191R	.	425	1050	47	0	0	47	0.021891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	.	0.0013	0.00459265	0.0047	0.0002	0.0009	0.0001	0	0.0022	0.0158	0.0237	0.0040297	623	154602	rs144272671	0.0027	0.0027	0.0020	0.0035	0.0228	0.0027	0.0026	0.0220	0.0216	0.0001	0.0008	0.0041	0.0001	0.0004	0.0223	0.0014	0.0036	0.0228	0.0017	0.0018	0.0012	0.0024	0.0227	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0008	0.0046	0.0006	0	0.0068	0.0016	0.0038	0.0227	0.0	0.91255	D	0.002	0.79402	D	0.995	0.67487	D	0.979	0.74454	D	0.419352	0.12891	N	0.672431	0.854418	0.35277	D	0.975	0.24501	L	4.9	0.01421	T	-0.7	0.19933	N	0.675	0.68255	-0.7879	0.55851	T	0.011	0.03903	T	10	0.005472988	0.00121	T	.	.	.	0.134	0.36365	.	.	0.437850553699	0.43404	0.6371477978752561	0.63648	0.427416486796	0.43086	0.647883415222	0.59685	T	0.00806	0.07418	T	-0.395404	0.02482	T	-0.323162	0.42226	T	0.0287560068156817	0.01800	T	0.717528	0.33029	T	0.3704387	0.58618	0.3850638	0.63432	0.3704387	0.58618	0.3850638	0.63432	-10.483	0.76749	D	.	.	0.627	0.69979	P	.	.	4.390380	0.67755	25.1	0.99700333214650194	0.80591	0.93071	0.57254	D	AEFDGBI	0.347638	0.44204	N	0.237604612350497	0.53029	3.473762	0.162506508952896	0.47808	3.005565	0.0105271983690197	0.12039	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.33	3.33	0.37245	1.103000	0.30674	7.682000	0.65344	0.644000	0.52426	0.073000	0.22155	1.000000	0.68203	0.776000	0.36750	0.0:0.0:0.0:1.0	8.272	0.31011	101	0.95833	Lipid-binding serum glycoprotein, 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	0.013092	0.000000	0.006793	0.011765	0.100000	0.008621	0.024390	0.011364	0.07895	4241.79	76	chr20	33083769	.	T	G	4241.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.218;DP=1520;ExcessHet=0.3672;FS=5.007;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.021;SOR=0.486	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1691,0,2395	16	0	3	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:89,84:175:99:971,0,1186	2	0	17	0
chr20	35226929	35226929	C	T	exonic	MMP24	.	nonsynonymous SNV	MMP24:NM_006690:exon1:c.C191T:p.A64V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00840192751394	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1422810610	8.388e-06	2.805e-05	6.683e-06	1.037e-05	9.182e-06	3.49e-06	2.24e-06	3.82e-06	2.46e-06	0	0	0	0	0	0	9.182e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.572	0.06145	T	0.206	0.27056	T	0.959	0.55135	D	0.499	0.47621	P	.	.	.	.	0.539848	0.32045	D	0	0.06538	N	2.35	0.16217	T	0.07	0.06138	N	0.133	0.12913	-1.0224	0.22932	T	0.021	0.09056	T	7	0.12447482	0.23642	T	0.008402	0.22231	T	0.064	0.18567	0.426	0.47185	0.477838726898	0.47414	0.2613837085853008	0.26051	0.537173882825	0.51028	0.57069170475	0.48775	T	0.042979	0.26357	T	-0.300016	0.08658	T	-0.668728	0.07690	T	0.215956847878891	0.21261	T	0.275872	0.04729	T	0.096768826	0.22800	0.16907942	0.38915	0.096768826	0.22799	0.16907942	0.38914	-4.961	0.36414	T	.	.	0.136	0.29588	B	.	.	1.292305	0.16934	12.85	0.96586301941123565	0.30351	0.00165	0.00980	N	AEFDBCI	0.037519	0.05173	N	-0.81529652825995	0.12920	0.6329383	-0.98126816070685	0.10206	0.5125713	0.969045663229028	0.29098	0.582742	0.33608	0	0.578056	0.33634	0	0.61531	0.40942	0	0.554799	0.18163	0	.	.	.	.	.	-0.111000	0.10778	0.599000	0.19904	0.152000	0.17698	0.000000	0.06391	0.018000	0.20648	0.131000	0.19607	.	.	.	391	0.83213	.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05	30.9	2	chr20	35226929	.	C	T	30.9	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=29;ExcessHet=0;FS=0;InbreedingCoeff=-0.1017;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=7.72;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	9	0	1	9
chr20	35627326	35627326	T	C	exonic	CPNE1	.	nonsynonymous SNV	CPNE1:NM_001198863:exon14:c.A1190G:p.H397R,CPNE1:NM_003915:exon14:c.A1205G:p.H402R,CPNE1:NM_152925:exon14:c.A1190G:p.H397R,CPNE1:NM_152926:exon14:c.A1190G:p.H397R,CPNE1:NM_152927:exon15:c.A1190G:p.H397R,CPNE1:NM_152928:exon15:c.A1190G:p.H397R	.	430	1083	9	0	0	9	0.00413793	.	.	.	4121529	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.364	0.0133580211815	.	.	2.472e-05	0	0	0	0	4.497e-05	0	0	1.94e-05	3	154602	rs762381858	6.021e-05	6.02e-05	6.263e-05	5.777e-05	0.0005	4.962e-05	4.628e-05	0.0001	7.541e-05	0	0	0	5.04e-05	0	0.0005	7.196e-05	3.313e-05	1.159e-05	3.302e-05	3.289e-05	1.292e-05	5.405e-05	6.571e-05	1.266e-05	8.01e-06	1.172e-05	6.25e-06	0	0	6.571e-05	0	0	0	0.0034	4.416e-05	0	0	0.164	0.25255	T	0.165	0.31026	T	0.012	0.90584	B	0.115	0.97372	B	0.000000	0.84330	U	0.000000	0.999952	0.52396	D	2.57	0.75187	M	2.0	0.21473	T	-6.72	0.93060	D	0.83	0.82559	-0.3500	0.73554	T	0.362	0.72369	T	10	0.72346807	0.73817	D	0.013358	0.32703	T	0.475	0.76751	0.715	0.85051	0.503498835695	0.49987	0.85339063387328	0.85301	0.808806275993	0.66640	0.692456901073	0.66059	T	0.113163	0.42999	T	0.0713643	0.61013	D	0.0506372	0.73627	D	0.490309731710405	0.32275	T	0.838016	0.51562	T	0.65434885	0.75596	0.7076564	0.82761	0.65434885	0.75597	0.7076564	0.82762	-9.328	0.69782	D	.	.	0.278	0.58357	B	.;.;.;.;.;.	.;.;.;.;.;.	3.948592	0.57831	23.9	0.99548381439555877	0.70961	0.99542	0.97254	D	AEFDBI	0.919160	0.88927	D	0.457032419758038	0.64604	4.718602	0.498468169810925	0.67887	5.144752	0.999249472404768	0.38873	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	6.247000	0.72367	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.0:0.0:1.0	13.940	0.63554	427	0.81056	Copine|von Willebrand factor, type A|Copine;Copine|von Willebrand factor, type A|Copine;Copine|von Willebrand factor, type A|Copine;Copine;Copine|von Willebrand factor, type A|Copine;Copine	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1583.33	40	chr20	35627326	.	T	C	1583.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.491;DP=874;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.22;ReadPosRankSum=-0.041;SOR=0.579	GT:AD:DP:GQ:PL	0/1:79,76:155:99:1597,0,1755	18	0	1	0
chr20	45857313	45857313	-	ATCT	exonic	ACOT8	.	startloss	ACOT8:NM_005469:exon1:c.2_3insAGAT:p.M1?	.	425	1040	53	4	0	61	0.0284914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.029353	0.0253	0.0006	0.0021	0.0353	0.0008	0.0044	0.0100	0.1046	0.0014215	37	26028	rs201025211	0.0089	0.0090	0.0066	0.0112	0.0854	0.0087	0.0087	0.0838	0.0831	0.0011	0.0011	0.0061	0.0228	0.0003	0.0110	0.0033	0.0133	0.0854	0.0058	0.0059	0.0046	0.0072	0.0886	0.0055	0.0054	0.0817	0.0790	0.0005	0	0.0014	0.0084	0.0286	0	0.0204	0.0032	0.0099	0.0886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013158	0.000000	0.000000	0.014620	0.000000	0.000000	0.028125	0.049618	0.05263	2553.79	35	chr20	45857313	.	C	CATCT	2553.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.06;DP=766;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=1.66;SOR=0.678	GT:AD:DP:GQ:PL	0/1:48,29:77:99:1073,0,1928	17	0	2	0
chr20	46541318	46541318	C	T	exonic	OCSTAMP	.	nonsynonymous SNV	OCSTAMP:NM_080721:exon3:c.G1657A:p.V553M	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0039	0.00479233	0.0092	0.0005	0	0	0.0021	0.0045	0	0.0191	0.0021863	338	154602	rs41283036	0.0059	0.0063	0.0047	0.0068	0.0174	0.0057	0.0056	0.0166	0.0162	0.0010	0.0009	0.0009	9.327e-05	0.0008	0.0070	0.0062	0.0042	0.0174	0.0041	0.0041	0.0041	0.0041	0.0166	0.0038	0.0037	0.0137	0.0126	0.0011	0	0.0010	0.0009	0	0.0003	0.0034	0.0069	0.0028	0.0166	0.126	0.27194	T	0.0	0.92824	D	0.235	0.30743	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	0	0.06538	N	0.55	0.54728	T	-0.04	0.07590	N	0.106	0.09066	-1.0447	0.15913	T	0.052	0.22153	T	9	0.0036742687	0.00067	T	.	.	.	0.053	0.14996	.	.	0.0666544352282	0.05500	0.4439321696129841	0.44311	.	.	0.352969288826	0.18358	T	0.002521	0.01914	T	-0.55353	0.00278	T	-0.553604	0.16982	T	0.00855540529876737	0.00104	T	0.538946	0.18179	T	0.027286893	0.01899	0.051932193	0.08458	0.027286893	0.01899	0.051932193	0.08457	-4.371	0.29161	T	.	.	0.121	0.25199	B	.	.	1.962532	0.24926	16.58	0.94911563024116052	0.25775	0.06835	0.12859	N	AEFDGBI	0.026489	0.01998	N	-1.00310979624797	0.08538	0.4007426	-1.02828012472796	0.09166	0.4545069	0.640205974196257	0.22046	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.34	2.39	0.28492	0.380000	0.20331	-0.022000	0.12912	-0.202000	0.08738	0.001000	0.13787	0.000000	0.08366	0.004000	0.06068	0.0:0.8706:0.0:0.1294	6.752	0.22679	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002494	0.000000	0.000000	0.004505	0.000000	0.000000	0.000000	0.000000	0.02632	2043.33	62	chr20	46541318	.	C	T	2043.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.959;DP=820;ExcessHet=0;FS=5.836;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-1.319;SOR=1.272	GT:AD:DP:GQ:PL	0/1:52,77:129:99:2057,0,1289	18	0	1	0
chr20	47651121	47651121	-	GC	exonic	NCOA3	.	frameshift insertion	NCOA3:NM_001174087:exon20:c.3788_3789insGC:p.Q1264Hfs*23,NCOA3:NM_001174088:exon20:c.3764_3765insGC:p.Q1256Hfs*23,NCOA3:NM_006534:exon20:c.3779_3780insGC:p.Q1261Hfs*23,NCOA3:NM_181659:exon20:c.3791_3792insGC:p.Q1265Hfs*23	.	340	1148	19	7	8	41	0.0141692	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0293	0.0007	0.0005	0	0.0011	0.0013	0.0035	0.0001153	3	26028	rs747117653	0.0027	0.0028	0.0027	0.0027	0.0376	0.0026	0.0026	0.0351	0.0342	0.0376	0.0021	0	0.0017	6.244e-05	0.0054	0.0022	0.0035	0.0040	0.0079	0.0081	0.0077	0.0080	0.0218	0.0075	0.0073	0.0206	0.0201	0.0218	0	0.0059	0.0003	0.0010	9.517e-05	0.0034	0.0022	0.0101	0.0069	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	2031.67	47	chr20	47651121	.	A	AGC	2031.67	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.889;DP=1051;ExcessHet=0;FS=12.031;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=2.44;SOR=1.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,60:131:99:0|1:47651121_A_AGC:2045,0,2497:47651121	17	0	1	1
chr20	47651122	47651122	-	G	exonic	NCOA3	.	frameshift insertion	NCOA3:NM_001174087:exon20:c.3789_3790insG:p.Q1264Afs*21,NCOA3:NM_001174088:exon20:c.3765_3766insG:p.Q1256Afs*21,NCOA3:NM_006534:exon20:c.3780_3781insG:p.Q1261Afs*21,NCOA3:NM_181659:exon20:c.3792_3793insG:p.Q1265Afs*21	.	356	888	231	20	27	298	0.132389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0165	0.0005	0.0005	0	0.0009	0.0012	0.0008	1.94e-05	3	154602	.	0.0021	0.0023	0.0022	0.0020	0.0213	0.0020	0.0020	0.0198	0.0192	0.0213	0.0017	0	0.0014	5.798e-05	0.0027	0.0019	0.0026	0.0007	0.0065	0.0067	0.0064	0.0066	0.0177	0.0061	0.0060	0.0166	0.0162	0.0177	0	0.0056	0.0003	0.0006	9.654e-05	0.0034	0.0020	0.0093	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	7399.14	47	chr20	47651122	.	A	AG	7399.14	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.187;DP=1096;ExcessHet=0.0506;FS=14.969;InbreedingCoeff=0.3091;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.95;ReadPosRankSum=1.28;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,51:117:99:0|1:47651121_A_AGC:2044,0,2498:47651121	18	0	1	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,43:106:99:.:.:277,0,914:.	4	0	11	4
chr20	54028628	54028628	C	A	exonic	BCAS1	.	nonsynonymous SNV	BCAS1:NM_001316361:exon4:c.G487T:p.V163F,BCAS1:NM_001323347:exon4:c.G487T:p.V163F,BCAS1:NM_001366295:exon4:c.G487T:p.V163F,BCAS1:NM_001366296:exon4:c.G487T:p.V163F,BCAS1:NM_001366297:exon4:c.G487T:p.V163F,BCAS1:NM_001366298:exon4:c.G487T:p.V163F,BCAS1:NM_003657:exon4:c.G487T:p.V163F	.	429	1034	56	3	0	62	0.029108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0072	0.0121805	0.0122	0.0023	0.0054	0.0032	0.0023	0.0092	0.0143	0.0435	0.0110542	1709	154602	rs61754122	0.0082	0.0082	0.0068	0.0095	0.0435	0.0080	0.0080	0.0423	0.0419	0.0025	0.0055	0.0216	0.0013	0.0018	0.0244	0.0057	0.0100	0.0435	0.0068	0.0068	0.0064	0.0073	0.0425	0.0065	0.0063	0.0378	0.0359	0.0024	0	0.0058	0.0187	0.0021	0.0023	0.0238	0.0077	0.0085	0.0425	0.012	0.58626	D	0.046	0.49120	D	0.868	0.47740	P	0.32	0.41729	B	0.277183	0.15013	N	0.648898	1	0.08975	N	0.69	0.16971	N	3.3	0.06368	T	-1.09	0.28290	N	0.055	0.03175	-0.9612	0.38955	T	0.007	0.02598	T	10	0.0027716756	0.00043	T	.	.	.	0.067	0.19503	.	.	.	.	0.03992220136706161	0.03938	0.289761338798	0.31384	0.328943371773	0.14774	T	0.021546	0.16761	T	-0.480598	0.00733	T	-0.432422	0.29661	T	0.0165141970174594	0.00415	T	0.69603	0.30552	T	0.05788448	0.11576	0.05855628	0.10839	0.05788448	0.11576	0.05855628	0.10839	-6.569	0.50816	T	.	.	0.094	0.19235	B	.;.;.	.;.;.	1.223381	0.16175	12.37	0.99409088839058579	0.63169	0.09415	0.15175	N	AEFDBCI	0.158754	0.28445	N	-0.719141057650663	0.15484	0.7807461	-0.817846634436971	0.14063	0.7328977	0.999540203599691	0.40300	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.87	0.45	0.15835	0.146000	0.16000	0.467000	0.18675	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2632:0.4301:0.0:0.3067	2.756	0.04969	985	0.02828	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.021148	0.020202	0.019022	0.017544	0.000000	0.008621	0.030488	0.022727	0.07895	4934.79	37	chr20	54028628	.	C	A	4934.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.163;DP=1008;ExcessHet=0.3672;FS=4.732;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.449;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,68:128:99:1|0:54028627_A_G:1981,0,2302:54028627	16	0	3	0
chr20	62322666	62322666	G	A	exonic	LAMA5	.	nonsynonymous SNV	LAMA5:NM_005560:exon46:c.C6157T:p.R2053C	.	457	1063	1	1	0	3	0.00140911	.	.	.	1708713	Bent_bone_dysplasia_syndrome_2|LAMA5-related_disorder|not_provided	MONDO:MONDO:0859573,MedGen:C5774233,OMIM:620076|.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.292	0.0666392876014	0.0003	0.000798722	0.0012	0.0029	0.0037	0.0024	0	0.0008	0.0071	0.0010	0.0003363	52	154602	rs201815547	0.0010	0.0009	0.0010	0.0010	0.0019	0.0009	0.0009	0.0016	0.0015	0.0005	0.0005	0	0.0005	9.676e-05	0.0005	0.0010	0.0009	0.0019	0.0006	0.0006	0.0007	0.0006	0.0016	0.0005	0.0005	0.0007	0.0006	0.0005	0	0.0002	0	0	0	0	0.0009	0.0005	0.0016	0.02	0.49613	D	0.002	0.79402	D	0.999	0.77913	D	0.873	0.61978	P	0.004660	0.33526	U	0.294485	1	0.81001	D	3.435	0.92070	M	1.19	0.37578	T	-6.24	0.90530	D	0.38	0.42149	-0.1005	0.80086	T	0.299	0.66998	T	10	0.06264317	0.08040	T	0.066639	0.69935	D	0.292	0.61157	.	.	0.647156567392	0.64423	0.5443504289801174	0.54361	.	.	0.314278513193	0.12554	T	0.181915	0.53374	T	-0.23913	0.15461	T	-0.146349	0.59566	T	0.813380658626556	0.47288	D	0.941606	0.78180	D	0.6605586	0.75929	0.47815153	0.69770	0.6605586	0.75930	0.47815153	0.69770	-11.459	0.82116	D	.	.	0.207	0.43311	B	.	.	4.107944	0.61310	24.3	0.99903462451633462	0.97502	0.88635	0.48656	D	AEFDBCI	0.784413	0.71511	D	0.622090595794827	0.74575	6.155779	0.457637773644463	0.65210	4.79495	0.999999967123161	0.74766	0.695654	0.57023	0	0.626922	0.53725	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.12	4.12	0.47504	3.568000	0.53564	4.955000	0.46306	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.175000	0.21139	0.0:0.0:1.0:0.0	15.561	0.75984	774	0.48577	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	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	0.002309	0.000000	0.001453	0.000000	0.000000	0.000000	0.003704	0.004274	0.02632	212.37	11	chr20	62322666	.	G	A	212.37	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=212;ExcessHet=0;FS=0;InbreedingCoeff=-0.0299;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.34;ReadPosRankSum=1.92;SOR=0.446	GT:AD:DP:GQ:PL	0/1:5,8:13:94:226,0,94	18	0	1	0
chr20	62879808	62879808	G	A	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.C6148T:p.L2050F,DIDO1:NM_033081:exon16:c.C6148T:p.L2050F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0195890123713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.15098	T	0.464	0.12456	T	0.917	0.50750	P	0.367	0.43430	B	0.005841	0.32475	U	0.000000	1	0.08975	N	1.845	0.48678	L	2.8	0.11082	T	-0.9	0.24244	N	0.232	0.26111	-1.0047	0.28547	T	0.018	0.07329	T	10	0.14698273	0.27858	T	0.019589	0.41992	T	0.018	0.03083	0.192	0.10304	0.198222871337	0.19423	0.1144995690079344	0.11377	0.946704540343	0.72437	0.728477478027	0.71284	T	0.11504	0.43332	T	-0.261687	0.12704	T	-0.613671	0.11689	T	0.337627619504929	0.26529	T	0.442956	0.12306	T	0.055530477	0.10804	0.04682501	0.06612	0.055530477	0.10804	0.04682501	0.06611	-3.589	0.17698	T	.	.	0.080	0.07745	B	.;.	.;.	0.829670	0.12010	8.568	0.97803664723579398	0.36078	0.13334	0.17797	N	AEFDBCI	0.071642	0.14270	N	-0.511669195093745	0.21701	1.153665	-0.65080731042215	0.18196	0.9709895	0.969611362386172	0.29142	0.65757	0.49021	0	0.601575	0.49859	0	0.338622	0.05889	2	0.604282	0.37693	0	.	.	4.6	1.42	0.21524	0.315000	0.19200	1.279000	0.25339	0.592000	0.32167	0.001000	0.13787	0.534000	0.25378	0.002000	0.04165	0.2256:0.0:0.6008:0.1737	4.595	0.11716	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1550.33	34	chr20	62879808	.	G	A	1550.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.244;DP=747;ExcessHet=0;FS=2.486;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.884;SOR=0.966	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1564,0,1375	18	0	1	0
chr20	63407198	63407198	T	G	exonic	KCNQ2	.	nonsynonymous SNV	KCNQ2:NM_004518:exon15:c.A1981C:p.I661L,KCNQ2:NM_172106:exon16:c.A2011C:p.I671L,KCNQ2:NM_172108:exon16:c.A1972C:p.I658L,KCNQ2:NM_001382235:exon17:c.A2119C:p.I707L,KCNQ2:NM_172107:exon17:c.A2065C:p.I689L	Epileptic encephalopathy, early infantile, 7, Autosomal dominant;Myokymia, Autosomal dominant;Seizures, benign neonatal, 1, Autosomal dominant	0	1489	33	0	0	33	0.0109598	.	.	.	203705	not_provided|Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100620,MedGen:C5779964|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.250	.	.	0.00179712	0.0026	0.0002	0.0008	0	0	0.0005	0.0045	0.0141	0.0016623	257	154602	rs201701585	0.0011	0.0011	0.0006	0.0016	0.0144	0.0011	0.0011	0.0137	0.0134	8.966e-05	0.0006	0.0010	0	0	0.0059	0.0002	0.0012	0.0144	0.0007	0.0007	0.0004	0.0011	0.0137	0.0006	0.0006	0.0110	0.0101	2.405e-05	0	0.0004	0.0012	0.0002	0	0.0034	0.0004	0.0014	0.0137	0.098	0.31383	T	0.498	0.16473	T	0.001	0.12996	B	0.003	0.14300	B	0.012605	0.29115	N	0.346493	0.560604	0.31260	N	0.49	0.13296	N	-5.14	0.98988	D	-0.22	0.12661	N	0.12	0.27077	0.525	0.90895	D	0.850	0.94987	D	10	0.005797833	0.00129	T	.	.	.	0.250	0.55888	.	.	0.309278343525	0.30543	0.20188598172864655	0.20105	0.621969221357	0.56478	0.4459156394	0.31386	T	0.280568	0.65574	T	-0.347798	0.04867	T	-0.260688	0.48755	T	0.0062713556725788	0.00070	T	0.79922	0.44465	T	0.06409487	0.13562	0.051134996	0.08168	0.067172885	0.14520	0.050055306	0.07778	-2.607	0.09044	T	0.12421457513541567	0.12153	0.115	0.23041	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.586074	0.20292	14.68	0.93815638897404219	0.23793	0.68909	0.33981	D	AEFDBCI	0.313222	0.41844	N	-0.601608584314394	0.18896	0.9847405	-0.508404352314558	0.21925	1.188368	0.00217143778739261	0.09210	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	5.06	0.028	0.13475	1.511000	0.35409	1.260000	0.25225	-0.199000	0.08999	1.000000	0.71638	1.000000	0.68203	0.690000	0.33838	0.0:0.2103:0.1654:0.6243	6.272	0.20167	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.003033	0.005263	0.000000	0.005848	0.000000	0.008621	0.000000	0.003788	0.02632	1545.33	36	chr20	63407198	.	T	G	1545.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.7;DP=818;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.446;SOR=0.627	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1559,0,1361	18	0	1	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	70838.3	366	chr21	13610565	.	G	A	70838.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3;DP=4790;ExcessHet=8.2795;FS=1.103;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-8.431;QD=15.65;ReadPosRankSum=0.808;SOR=0.764	GT:AD:DP:GQ:PL	0/1:133,109:242:99:2643,0,3326	3	3	13	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.5	51549.3	311	chr21	13610631	.	A	G	51549.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.175;DP=3934;ExcessHet=8.2795;FS=4.175;InbreedingCoeff=-0.3684;MLEAC=19;MLEAF=0.5;MQ=50.54;MQRankSum=-13.57;QD=13.93;ReadPosRankSum=0.36;SOR=1.018	GT:AD:DP:GQ:PL	0/1:105,83:188:99:2005,0,2802	3	3	13	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5526	47375.2	161	chr21	13641414	.	A	G	47375.2	.	AC=21;AF=0.553;AN=38;BaseQRankSum=-2.158;DP=2954;ExcessHet=3.6106;FS=1.192;InbreedingCoeff=-0.1709;MLEAC=21;MLEAF=0.553;MQ=58.14;MQRankSum=-1.219;QD=17.04;ReadPosRankSum=0.529;SOR=0.59	GT:AD:DP:GQ:PL	0/1:85,85:170:99:2102,0,2109	3	5	11	0
chr21	28883033	28883033	A	G	exonic	N6AMT1	.	nonsynonymous SNV	N6AMT1:NM_013240:exon2:c.T173C:p.V58A,N6AMT1:NM_182749:exon2:c.T173C:p.V58A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	0.00995647597844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.869e-07	6.841e-07	0	1.381e-06	1.17e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.17e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.26629	T	0.129	0.34837	T	0.215	0.32101	B	0.188	0.36237	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.26	0.17596	T	-2.29	0.50992	N	0.585	0.60833	-1.0462	0.15476	T	0.034	0.14639	T	10	0.53591335	0.63446	D	0.009956	0.25923	T	0.172	0.43662	0.719	0.85408	0.294206760003	0.29026	0.7903093808865147	0.78982	0.19848012073	0.22230	0.666102051735	0.62282	T	0.102302	0.40989	T	0.011137	0.53180	T	-0.221779	0.52566	T	0.889190673828125	0.53986	D	0.990615	0.97081	D	0.7893124	0.83230	0.6505039	0.79552	0.7893124	0.83232	0.6505039	0.79553	-7.172	0.55280	T	.	.	0.340	0.55916	A	.;.	.;.	3.165021	0.42900	21.6	0.99202497143628521	0.55321	0.98043	0.79119	D	AEFGBI	0.741974	0.68574	D	0.0336187183562653	0.43390	2.632852	0.202314417641681	0.49977	3.194558	0.99999999975274	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	6.973000	0.75901	11.095000	0.86003	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.817000	0.38496	1.0:0.0:0.0:0.0	14.285	0.65792	964	0.07719	Methyltransferase small domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	420.33	34	chr21	28883033	.	A	G	420.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.453;DP=678;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=1.11;SOR=0.646	GT:AD:DP:GQ:PL	0/1:22,19:41:99:434,0,509	18	0	1	0
chr21	33550895	33550895	C	T	exonic	SON	.	nonsynonymous SNV	SON:NM_001291411:exon3:c.C1664T:p.T555M,SON:NM_032195:exon3:c.C1664T:p.T555M,SON:NM_138927:exon3:c.C1664T:p.T555M	ZTTK syndrome, Autosomal dominant	424	1096	2	0	0	2	0.000911577	.	.	.	717182	not_provided|SON-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.126	0.034583963634	0.0015	0.000798722	0.0024	0.0002	0.0003	0	0.0017	0.0032	0.0033	0.0032	0.0020569	318	154602	rs13049658	0.0019	0.0019	0.0019	0.0018	0.0031	0.0018	0.0018	0.0028	0.0027	0.0002	0.0002	3.831e-05	2.525e-05	0.0027	0.0014	0.0020	0.0013	0.0031	0.0014	0.0014	0.0013	0.0015	0.0033	0.0012	0.0012	0.0021	0.0018	0.0004	0	6.533e-05	0	0	0.0024	0.0034	0.0023	0.0009	0.0033	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.98	0.79672	D	0.000014	0.62929	D	0.000000	1	0.81001	D	1.04	0.26193	L	2.51	0.16492	T	-2.09	0.49684	N	0.441	0.49420	-1.0769	0.07962	T	0.075	0.30303	T	10	0.009333074	0.00211	T	0.034584	0.55777	D	0.126	0.34673	.	.	0.179529687257	0.17594	0.1705605414197876	0.16976	0.374319196653	0.38897	0.680440545082	0.64331	T	0.047869	0.27850	T	-0.481618	0.00723	T	-0.467009	0.25839	T	0.0458613842970692	0.04759	T	0.80082	0.46649	T	0.14148048	0.32598	0.17205031	0.39431	0.1314538	0.30639	0.18266958	0.41208	-6.996	0.54005	T	0.4450038989314059	0.52983	0.157	0.34667	B	.;.;.	.;.;.	4.479588	0.69875	25.4	0.99654009776928976	0.77505	0.35817	0.25390	N	AEFDGBHCI	0.073280	0.14651	N	0.348749940001546	0.58674	4.041075	0.342038422355759	0.58030	3.971279	0.999999999718737	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.26	5.26	0.73479	0.494000	0.22175	0.588000	0.19789	0.549000	0.26987	0.000000	0.06391	0.999000	0.35428	0.917000	0.45243	0.0:1.0:0.0:0.0	16.693	0.85186	870	0.31527	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2116.33	35	chr21	33550895	.	C	T	2116.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.77;DP=817;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.55;SOR=0.632	GT:AD:DP:GQ:PL	0/1:75,75:150:99:2130,0,1836	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,15:83:99:0|1:41918930_C_G:313,0,2649:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,15:83:99:0|1:41918930_C_G:313,0,2649:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:67,10:79:99:.:.:265,0,2615:.	5	0	14	0
chr21	41918935	41918935	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G53C:p.R18T,C2CD2:NM_015500:exon4:c.G518C:p.R173T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00493845236522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.15047	T	0.346	0.17696	T	0.651	0.40707	P	0.15	0.34161	B	0.052137	0.22921	N	0.460473	1	0.08975	N	.	.	.	1.92	0.23082	T	-2.45	0.53577	N	0.252	0.28498	-1.0300	0.20454	T	0.042	0.18118	T	10	0.07400718	0.11258	T	0.004938	0.12442	T	0.039	0.10176	0.274	0.22528	0.158396225186	0.15383	0.2792123094980505	0.27834	0.43111718306	0.43331	0.306925415993	0.11442	T	0.034186	0.23222	T	-0.204236	0.20195	T	-0.531148	0.19171	T	0.249620780348778	0.22856	T	0.616438	0.23595	T	0.05097029	0.09291	0.045770753	0.06232	0.05097029	0.09291	0.045770753	0.06231	-2.512	0.11262	T	.	.	0.089	0.12276	B	.;.	.;.	0.500997	0.08699	5.474	0.53906906178001035	0.05031	0.63413	0.32082	D	AEFGBCI	0.063035	0.12155	N	-0.949612951554288	0.09701	0.4602946	-1.04496436725723	0.08812	0.4351327	0.925456163519065	0.26816	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	0.664	0.17060	0.183000	0.16729	-0.306000	0.10077	-0.800000	0.03169	0.000000	0.06391	0.000000	0.08366	0.096000	0.18090	0.0:0.5278:0.1455:0.3267	4.864	0.12958	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2368	1392.83	97	chr21	41918935	.	C	G	1392.83	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-4.202;DP=1325;ExcessHet=5.3738;FS=99.62;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=1.47;SOR=9.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,10:76:99:.:.:274,0,2489:.	10	0	9	0
chr21	42103947	42103947	C	T	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001004416:exon9:c.C1379T:p.A460V,UMODL1:NM_001199527:exon9:c.C1163T:p.A388V,UMODL1:NM_001199528:exon9:c.C1163T:p.A388V,UMODL1:NM_173568:exon9:c.C1379T:p.A460V	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.0123779472724	0.0027	0.00239617	0.0006	0.0067	0.0002	0	0	2.997e-05	0.0011	0	0.0006533	101	154602	rs112428028	0.0003	0.0003	0.0003	0.0002	0.0087	0.0003	0.0002	0.0079	0.0076	0.0087	0.0002	0	0.0002	0	0	2.158e-05	0.0012	3.478e-05	0.0021	0.0021	0.0023	0.0019	0.0070	0.0019	0.0018	0.0064	0.0061	0.0070	0	0.0008	0	0.0002	0	0	0	0.0076	0	0.018	0.51853	D	0.004	0.74150	D	0.999	0.90584	D	0.949	0.76457	D	0.050633	0.23053	N	0.298625	0.999994	0.20292	N	1.85	0.49092	L	1.08	0.39401	T	-2.41	0.53577	N	0.306	0.38541	-0.9085	0.47037	T	0.118	0.41407	T	10	0.0111683905	0.00245	T	0.012378	0.30901	T	0.119	0.33137	.	.	0.130388298395	0.12655	0.2231980897482002	0.22234	0.392667314243	0.40446	0.315308123827	0.12709	T	0.034762	0.23450	T	-0.535115	0.00358	T	-0.536445	0.18647	T	0.0186948339929764	0.00582	T	0.70513	0.31558	T	0.10218675	0.24143	0.14122424	0.33638	0.10218675	0.24143	0.14122424	0.33637	-7.905	0.60421	D	.	.	0.199	0.42229	B	.;.;.;.	.;.;.;.	3.723085	0.53211	23.3	0.99878415194925163	0.95491	0.08713	0.14602	N	AEFGBI	0.167188	0.29384	N	-0.58521073838447	0.19393	1.014615	-0.671841581221594	0.17667	0.940386	0.999907630673027	0.45458	0.517182	0.21443	0	0.563428	0.19063	0	0.478664	0.07449	1	0.530356	0.10902	0	.	.	3.49	2.61	0.30255	2.610000	0.45990	2.281000	0.31897	0.599000	0.40250	0.314000	0.25450	0.982000	0.30508	0.064000	0.16252	0.0:0.8882:0.0:0.1118	8.74	0.33713	982	0.03397	.;.;.;SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	1637.33	40	chr21	42103947	.	C	T	1637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.702;DP=825;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=1.78;SOR=0.695	GT:AD:DP:GQ:PL	0/1:68,66:134:99:1651,0,1704	18	0	1	0
chr21	42475905	42475905	C	T	exonic	RSPH1	.	nonsynonymous SNV	RSPH1:NM_001286506:exon7:c.G756A:p.M252I,RSPH1:NM_080860:exon8:c.G870A:p.M290I	Ciliary dyskinesia, primary, 24, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	243622	Primary_ciliary_dyskinesia|RSPH1-related_disorder	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.035	0.0187581651356	0.0015	0.000998403	0.0005	0.0053	0	0	0	0	0	0	0.000401	62	154602	rs140450252	0.0001	0.0001	0.0002	0.0001	0.0050	0.0001	0.0001	0.0043	0.0041	0.0050	0.0002	0	0	0	0	3.597e-06	0.0002	0	0.0012	0.0012	0.0013	0.0012	0.0044	0.0011	0.0010	0.0038	0.0036	0.0044	0	0.0002	0	0	0	0	0	0.0010	0	1.0	0.00964	T	0.654	0.09725	T	0.0	0.02946	B	0.0	0.01387	B	0.003627	0.00975	U	5.353470	1	0.08975	N	0.605	0.15622	N	0.47	0.56114	T	0.12	0.05604	N	0.113	0.10056	-0.9872	0.33298	T	0.056	0.23639	T	10	0.0035790205	0.00065	T	0.018758	0.40927	T	0.035	0.08770	0.194	0.10571	0.0401082797425	0.02173	0.06894763104192776	0.06832	0.105848872946	0.11968	0.331660985947	0.15185	T	0.029296	0.21023	T	-0.646894	0.00076	T	-0.700904	0.05776	T	0.00522784375999023	0.00056	T	0.346465	0.07620	T	0.041435644	0.06103	0.036071938	0.02980	0.03812313	0.05018	0.0565753	0.10133	-3.06	0.11159	T	.	.	0.102	0.25396	B	.;.	.;.	-0.874749	0.00968	0.038	0.30979609969867072	0.01722	0.00242	0.01343	N	AEFDBHCI	0.019139	0.00639	N	-1.75547451132621	0.00663	0.02862195	-1.82894207155153	0.00671	0.02984421	0.999986145042526	0.51787	0.653281	0.48532	0	0.659037	0.61890	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	3.39	-5.71	0.02218	-2.802000	0.00830	-8.946000	0.00890	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1337:0.2154:0.1453:0.5055	1.802	0.02887	994	0.00715	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	932.33	38	chr21	42475905	.	C	T	932.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.852;DP=762;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.36;ReadPosRankSum=0.517;SOR=0.89	GT:AD:DP:GQ:PL	0/1:51,39:90:99:946,0,1257	18	0	1	0
chr21	42770776	42770776	G	A	exonic	PDE9A	.	nonsynonymous SNV	PDE9A:NM_001001580:exon12:c.G1013A:p.R338Q,PDE9A:NM_001001575:exon13:c.G1184A:p.R395Q,PDE9A:NM_001001576:exon13:c.G1013A:p.R338Q,PDE9A:NM_001001569:exon14:c.G1280A:p.R427Q,PDE9A:NM_001001572:exon14:c.G1043A:p.R348Q,PDE9A:NM_001001577:exon14:c.G1262A:p.R421Q,PDE9A:NM_001001568:exon15:c.G1283A:p.R428Q,PDE9A:NM_001001573:exon15:c.G1043A:p.R348Q,PDE9A:NM_001001578:exon15:c.G1358A:p.R453Q,PDE9A:NM_001001579:exon15:c.G1043A:p.R348Q,PDE9A:NM_001001571:exon16:c.G1361A:p.R454Q,PDE9A:NM_001001574:exon16:c.G1406A:p.R469Q,PDE9A:NM_001001581:exon16:c.G1463A:p.R488Q,PDE9A:NM_001001584:exon16:c.G1043A:p.R348Q,PDE9A:NM_001001585:exon16:c.G1043A:p.R348Q,PDE9A:NM_001001567:exon17:c.G1484A:p.R495Q,PDE9A:NM_001001570:exon17:c.G1505A:p.R502Q,PDE9A:NM_001001582:exon17:c.G1541A:p.R514Q,PDE9A:NM_001001583:exon17:c.G1586A:p.R529Q,PDE9A:NM_001315533:exon18:c.G1340A:p.R447Q,PDE9A:NM_002606:exon18:c.G1664A:p.R555Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.0371855949455	0.0002	0.000199681	0.0002	0.0009	0.0004	0.0010	0	1.503e-05	0	0	0.000194	30	154602	rs150892798	8.279e-05	8.277e-05	9.94e-05	6.602e-05	0.0010	7.07e-05	6.62e-05	0.0008	0.0007	0.0010	0.0002	0	0.0003	5.618e-05	0	1.889e-05	0.0006	6.957e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0004	0.0004	0.0006	0	6.535e-05	0	0.0006	0	0	1.47e-05	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.12996	B	0.0	0.04355	B	0.001636	0.38439	N	0.230720	0.860625	0.31708	N	-0.795	0.01629	N	-0.96	0.75553	T	0.75	0.03761	N	0.262	0.31702	-0.9249	0.44872	T	0.108	0.39246	T	10	0.025556058	0.00746	T	0.037186	0.57461	D	0.223	0.52023	.	.	0.571483254199	0.56815	0.09631086931500368	0.09563	0.314777063784	0.33761	0.207146048546	0.00696	T	0.046585	0.27467	T	-0.452444	0.01093	T	-0.468232	0.25707	T	0.00654600169578308	0.00073	T	0.920008	0.72522	D	0.07842556	0.17860	0.060012825	0.11360	0.07842556	0.17859	0.060012825	0.11360	-0.588	0.02337	T	.	.	0.061	0.01738	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.590079	0.20337	14.70	0.16907840004632141	0.00472	0.30721	0.24155	N	AEFBI	0.080752	0.16332	N	-0.866843498241647	0.11637	0.5627103	-0.722838416788932	0.16392	0.8669579	0.0668163245174717	0.15406	0.706548	0.73137	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	4.64	2.26	0.27418	5.457000	0.66411	2.446000	0.32792	0.676000	0.76740	1.000000	0.71638	0.901000	0.27973	0.026000	0.12556	0.8347:0.0:0.1653:0.0	7.959	0.29219	964	0.07719	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain;.;.;.;.;.;.;.;.;.;3'5'-cyclic nucleotide phosphodiesterase, 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	.	.	.	.	.	.	.	.	0.02632	1524.33	33	chr21	42770776	.	G	A	1524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=773;ExcessHet=0;FS=8.075;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=-1.195;SOR=1.358	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1538,0,1677	18	0	1	0
chr21	44260807	44260807	G	A	exonic	DNMT3L	.	stopgain	DNMT3L:NM_013369:exon3:c.C139T:p.R47X,DNMT3L:NM_175867:exon3:c.C139T:p.R47X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	0.000199681	3.322e-05	9.697e-05	8.655e-05	0.0002	0	0	0	0	3.88e-05	6	154602	rs368058982	9.583e-06	1.026e-05	1.226e-05	6.88e-06	0.0001	5.56e-06	4.35e-06	4.907e-05	3.165e-05	5.974e-05	4.473e-05	0	0.0001	0	0	4.497e-06	0	0	3.286e-05	3.282e-05	2.571e-05	4.032e-05	0.0002	1.261e-05	7.98e-06	3.246e-05	1.913e-05	9.639e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.004649	0.33526	N	0.227351	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.878	0.87590	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0530005	0.43992	T	-0.0217592	0.68913	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.734405	0.95659	35	0.96694416886882339	0.30748	0.04741	0.10442	N	AEFBI	0.052234	0.09304	N	-0.444825480207957	0.23916	1.287689	-0.850459643591028	0.13276	0.6878352	0.626714653625772	0.21932	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.6	-3.25	0.04765	0.247000	0.17953	1.310000	0.25532	-0.895000	0.02364	0.008000	0.17931	0.122000	0.22912	0.072000	0.16771	0.0:0.0:0.2287:0.7713	11.633	0.50448	934	0.15400	.;ADD 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	.	.	.	.	.	.	.	.	0.02632	1251.33	34	chr21	44260807	.	G	A	1251.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.129;DP=755;ExcessHet=0;FS=2.295;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=2.11;SOR=0.64	GT:AD:DP:GQ:PL	0/1:67,56:123:99:1265,0,1561	18	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	24382.0	387	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	24382.0	.	AC=12;AF=0.353;AN=34;BaseQRankSum=2.29;DP=6389;ExcessHet=1.4183;FS=0.542;InbreedingCoeff=-0.0358;MLEAC=13;MLEAF=0.382;MQ=59.94;MQRankSum=0;QD=5.44;ReadPosRankSum=0.634;SOR=0.786	GT:AD:DP:GQ:PL	0/1:180,179:359:99:6784,0,6944	7	2	8	2
chr21	46219478	46219478	C	T	exonic	LSS	.	nonsynonymous SNV	LSS:NM_001145437:exon5:c.G405A:p.M135I,LSS:NM_001001438:exon6:c.G645A:p.M215I,LSS:NM_001145436:exon6:c.G612A:p.M204I,LSS:NM_002340:exon6:c.G645A:p.M215I	Cataract 44, Autosomal recessive	.	.	.	.	.	.	.	0.0019	0.008	YES	3410989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.182	.	0.0007	0.00119808	0.0002	0.0017	0	0	0	0	0	7.92e-05	0.0001617	25	154602	rs111335500	7.032e-05	7.319e-05	7.611e-05	6.446e-05	0.0024	5.883e-05	5.487e-05	0.0020	0.0018	0.0024	0	0	0	0	0.0004	1.819e-06	0.0003	2.432e-05	0.0004	0.0004	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0	0	0	0	0	0	0	0	0.246	0.24564	T	0.27	0.23433	T	0.188	0.29318	B	0.059	0.26602	B	0.000000	0.84330	D	0.044802	1	0.81001	D	1.585	0.39878	L	1.06	0.39781	T	-1.15	0.32387	N	0.798	0.79406	-1.0666	0.10177	T	0.063	0.26065	T	10	0.023896039	0.00639	T	.	.	.	0.182	0.45420	0.42	0.46200	0.617576649361	0.61448	0.8477246519116275	0.84733	0.320577537376	0.34268	0.698547363281	0.66934	T	0.050118	0.28503	T	-0.166751	0.25727	T	-0.0423813	0.67540	D	0.0674917301187131	0.08295	T	0.960604	0.94289	D	0.71747005	0.79021	0.44597602	0.67727	0.71747005	0.79022	0.44597602	0.67728	-5.886	0.45316	T	.	.	0.604	0.69057	P	.;.;.;.;.	.;.;.;.;.	3.133017	0.42339	21.5	0.94833199701543014	0.25615	0.93412	0.58148	D	AEFDBCI	0.758783	0.69732	D	-0.0433769229043718	0.39899	2.360481	0.0541297874116429	0.42272	2.553927	0.999999995089343	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.62	3.71	0.41733	5.881000	0.69450	3.841000	0.40042	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	0.0:0.9174:0.0:0.0826	12.773	0.56808	934	0.15400	Squalene cyclase, N-terminal;Squalene cyclase, N-terminal;.;.;Squalene cyclase, N-terminal	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2275.33	34	chr21	46219478	.	C	T	2275.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.158;DP=883;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.16;ReadPosRankSum=0.071;SOR=0.699	GT:AD:DP:GQ:PL	0/1:123,101:224:99:2289,0,2873	18	0	1	0
chr21	46411687	46411687	G	A	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.G5260A:p.E1754K,PCNT:NM_006031:exon28:c.G5614A:p.E1872K	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	493913	not_specified|not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II|PCNT-related_disorder	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.151	0.0113399748003	0.0017	0.00179712	0.0006	0.0061	0.0002	0.0005	0	1.577e-05	0	0.0004	0.0005304	82	154602	rs112853262	0.0002	0.0002	0.0003	0.0002	0.0060	0.0002	0.0002	0.0053	0.0051	0.0060	0.0004	0	0.0004	0	0.0005	3.328e-05	0.0006	0.0003	0.0017	0.0017	0.0016	0.0018	0.0059	0.0015	0.0015	0.0053	0.0051	0.0059	0	0.0007	0	0.0002	0	0	0	0.0014	0.0002	0.014	0.53172	D	0.073	0.43159	T	0.983	0.60381	D	0.403	0.44588	B	0.728057	0.09878	N	0.816391	0.999991	0.08975	N	1.795	0.47270	L	4.59	0.01885	T	-2.2	0.49519	N	0.14	0.13911	-0.8445	0.52345	T	0.008	0.02842	T	10	0.009754062	0.00219	T	0.01134	0.28865	T	0.151	0.39764	.	.	0.468085328875	0.46433	0.2916156461315663	0.29074	0.310774122975	0.33387	0.264351993799	0.05420	T	0.079839	0.36222	T	-0.561746	0.00248	T	-0.576796	0.14832	T	0.041541020365943	0.03971	T	0.831417	0.49863	T	0.13120966	0.30592	0.09030073	0.21166	0.13120966	0.30592	0.09030073	0.21166	-6.51	0.50363	T	.	.	0.100	0.17317	B	.	.	2.125088	0.27051	17.33	0.99337575834658709	0.60051	0.56722	0.30190	D	AEFBI	0.072123	0.14382	N	-0.479094757920915	0.22767	1.217982	-0.571576117335528	0.20236	1.089296	0.766662234972327	0.23598	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.07	2.2	0.26966	1.981000	0.40250	1.441000	0.26527	-0.157000	0.11712	0.985000	0.35982	0.878000	0.27671	0.068000	0.16518	0.0:0.6863:0.3137:0.0	16.454	0.83849	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	6268.33	33	chr21	46411687	.	G	A	6268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=1009;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.455;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,172:359:99:0|1:46411687_G_A:6282,0,7060:46411687	18	0	1	0
chr21	46411753	46411753	G	A	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.G5326A:p.V1776I,PCNT:NM_006031:exon28:c.G5680A:p.V1894I	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	430493	not_provided|PCNT-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.052	0.0132763824901	0.0004	0.000399361	0.0001	0.0009	0.0002	0.0001	0	5.239e-05	0	6.414e-05	0.0001682	26	154602	rs113208348	0.0001	0.0001	0.0001	0.0001	0.0016	0.0001	0.0001	0.0013	0.0011	0.0016	4.476e-05	0	7.559e-05	0	0.0005	8.816e-05	0.0003	8.117e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0005	0.0004	0.0006	0	0	0	0	0	0	8.823e-05	0	0	1.0	0.00964	T	0.912	0.02943	T	0.265	0.31634	B	0.005	0.11217	B	0.385857	0.13324	N	0.554792	1	0.08975	N	-0.185	0.04235	N	4.85	0.01470	T	0.25	0.04456	N	0.041	0.01421	-0.9033	0.47639	T	0.003	0.00832	T	10	0.009223193	0.00208	T	0.013276	0.32560	T	0.052	0.14661	.	.	0.141422826196	0.13715	0.03651092333601767	0.03598	0.0666021734237	0.07428	0.300904899836	0.10536	T	0.019598	0.15585	T	-0.672019	0.00053	T	-0.813499	0.01588	T	0.0149154487239627	0.00317	T	0.580842	0.21027	T	0.017833749	0.00307	0.021228362	0.00182	0.017833749	0.00307	0.021228362	0.00182	-5.878	0.45247	T	.	.	0.113	0.22208	B	.	.	-1.875660	0.00133	0.002	0.48664048736090793	0.04080	0.00402	0.02007	N	AEFDBI	0.017089	0.00426	N	-1.51368906748782	0.01759	0.07704347	-1.62859409823699	0.01490	0.06746222	0.999999713698455	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.570548	0.19454	0	0.635551	0.53088	0	.	.	5.8	-9.79	0.00411	-5.073000	0.00181	-2.279000	0.03958	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1567:0.3446:0.4987:0.0	10.358	0.43160	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2733.33	33	chr21	46411753	.	G	A	2733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.52;DP=886;ExcessHet=0;FS=2.912;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.33;SOR=0.89	GT:AD:DP:GQ:PL	0/1:127,109:236:99:2747,0,3078	18	0	1	0
chr21	46422003	46422003	C	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon32:c.C6704G:p.P2235R,PCNT:NM_006031:exon32:c.C7058G:p.P2353R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1499491	not_provided|PCNT-related_disorder|Inborn_genetic_diseases	MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00528796773909	0.0003	0.000399361	9.093e-05	0.0010	0	0	0	0	0	6.057e-05	9.7e-05	15	154602	rs139978398	5.199e-05	5.199e-05	6.398e-05	3.988e-05	0.0016	4.258e-05	3.888e-05	0.0012	0.0011	0.0016	0	0	0	0	0.0005	1.799e-06	0.0002	4.637e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0006	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.177	0.29740	T	0.035	0.20614	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	1.245	0.31408	L	4.91	0.01413	T	0.05	0.06369	N	0.122	0.11340	-0.9032	0.47650	T	0.003	0.00864	T	9	0.010094613	0.00226	T	0.005288	0.13525	T	0.011	0.01250	.	.	0.136095386433	0.13204	0.09652096021677592	0.09584	0.111931867433	0.12625	0.27534738183	0.06852	T	0.030236	0.21478	T	-0.63109	0.00094	T	-0.74677	0.03613	T	0.00507533364201443	0.00055	T	0.342266	0.07430	T	0.025126876	0.01415	0.040206484	0.04292	0.025126876	0.01415	0.040206484	0.04292	-3.994	0.23714	T	.	.	0.080	0.07745	B	.	.	-0.963130	0.00825	0.028	0.4487222821868509	0.03481	0.01186	0.04246	N	AEFDBI	0.025578	0.01773	N	-1.50729421214601	0.01801	0.07894734	-1.61728862503719	0.01553	0.07040563	0.999996830040291	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.19	-6.93	0.01480	-1.029000	0.03696	-2.171000	0.04109	-0.174000	0.10959	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1526:0.2743:0.2863:0.2869	1.026	0.01433	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	.	.	.	.	.	.	.	.	0.02632	848.33	33	chr21	46422003	.	C	G	848.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.89;DP=714;ExcessHet=0;FS=7.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.211;SOR=1.354	GT:AD:DP:GQ:PL	0/1:55,36:91:99:862,0,1304	18	0	1	0
chr22	17138047	17138047	G	A	exonic	HDHD5	.	nonsynonymous SNV	HDHD5:NM_017829:exon8:c.C1156T:p.R386C,HDHD5:NM_033070:exon8:c.C1246T:p.R416C	.	426	1083	13	0	0	13	0.00596604	.	.	.	717279	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.044	0.00858829295827	0.0026	0.00299521	0.0041	0.0006	0.0024	0	0.0022	0.0050	0.0045	0.0072	0.0041009	634	154602	rs35327402	0.0053	0.0053	0.0051	0.0055	0.0092	0.0052	0.0052	0.0073	0.0071	0.0008	0.0035	0.0009	0	0.0025	0.0092	0.0058	0.0051	0.0078	0.0041	0.0041	0.0042	0.0040	0.0087	0.0039	0.0037	0.0075	0.0070	0.0010	0.0066	0.0087	0.0012	0.0002	0.0012	0.0102	0.0056	0.0057	0.0066	0.067	0.36113	T	0.154	0.34477	T	0.103	0.25884	B	0.021	0.19346	B	0.073110	0.21367	N	0.532262	0.998559	0.22078	N	.	.	.	1.81	0.25182	T	-3.81	0.71882	D	0.136	0.13341	-1.0441	0.16089	T	0.030	0.13023	T	10	0.0048992634	0.00105	T	0.008588	0.22705	T	0.044	0.11924	.	.	0.151104730317	0.14643	0.32160215630162675	0.32073	0.252569343955	0.27827	0.193930208683	0.00302	T	0.123751	0.44833	T	-0.569196	0.00224	T	-0.586242	0.13993	T	0.0246075277663513	0.01221	T	0.89531	0.63576	D	0.18121354	0.39280	0.10021732	0.23954	0.18121354	0.39280	0.10021732	0.23953	-7.855	0.60078	D	.	.	0.078	0.20117	B	.;.;.	.;.;.	2.080547	0.26459	17.13	0.98184140039803314	0.38975	0.13243	0.17745	N	AEFBI	0.189168	0.31643	N	-0.554900066410498	0.20330	1.070933	-0.523539777830351	0.21514	1.164231	0.0945017746383432	0.16207	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.47	2.2	0.26966	-0.419000	0.07136	0.522000	0.19173	0.590000	0.31872	0.000000	0.06391	0.019000	0.20708	0.955000	0.50612	0.0871:0.1262:0.4078:0.3789	3.661	0.07775	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	0	0	1	0	0.007049	0.000000	0.002717	0.011696	0.000000	0.008621	0.012195	0.007576	0.02632	1359.33	33	chr22	17138047	.	G	A	1359.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=769;ExcessHet=0;FS=3.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.7;ReadPosRankSum=-0.92;SOR=0.45	GT:AD:DP:GQ:PL	0/1:72,55:127:99:1373,0,1811	18	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	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,81:157:99:.:.:1923,0,1858:.	2	12	5	0
chr22	21060419	21060419	G	A	exonic	LRRC74B	.	nonsynonymous SNV	LRRC74B:NM_001291006:exon9:c.G1070A:p.R357K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.001286466999	.	.	0.0001	0	0	0	0	0	0	0.0003	0.0011142	29	26028	rs774531052	0.0017	0.0018	0.0020	0.0015	0.0026	0.0016	0.0016	0.0025	0.0024	0.0004	0.0012	0	0	0.0005	0.0010	0.0026	0.0019	0.0004	0.0019	0.0021	0.0020	0.0017	0.0030	0.0017	0.0016	0.0026	0.0025	0.0006	0.0066	0.0026	0	0	0.0007	0	0.0030	0.0009	0.0004	0.37	0.11550	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.41	0.15492	T	0.98	0.01447	N	0.03	0.00717	-0.9472	0.41448	T	0.016	0.06569	T	6	0.014935434	0.00314	T	0.001286	0.01759	T	0.020	0.03691	.	.	0.0401082797425	0.02173	0.3844893340997006	0.38363	.	.	.	.	.	0.003152	0.02556	T	-0.441399	0.01269	T	-0.871816	0.00725	T	0.0198427871300869	0.00686	T	0.121688	0.00942	T	0.025626978	0.01522	0.065358795	0.13236	0.025626978	0.01522	0.065358795	0.13235	-2.866	0.08808	T	.	.	0.064	0.01786	B	.	.	-0.974797	0.00808	0.027	0.63671944784049428	0.07286	0.00096	0.00628	N	AEFI	0.019896	0.00734	N	-1.08627928806931	0.06895	0.3187402	-1.22201045823474	0.05558	0.2651429	0.00260604521410719	0.09566	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.55	-0.2	0.12567	-0.229000	0.09106	1.183000	0.24710	-0.617000	0.04568	0.014000	0.18986	0.094000	0.22579	0.014000	0.10232	0.4599:0.162:0.3781:0.0	5.176	0.14460	503	0.75780	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	571.33	41	chr22	21060419	.	G	A	571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.35;DP=767;ExcessHet=0;FS=25.751;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=45.64;MQRankSum=-8.525;QD=5.6;ReadPosRankSum=0.154;SOR=3.4	GT:AD:DP:GQ:PL	0/1:78,24:102:99:585,0,2114	18	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3611	1557.51	24	chr22	21216084	.	C	T	1557.51	.	AC=13;AF=0.361;AN=36;BaseQRankSum=2.24;DP=256;ExcessHet=13.8672;FS=0;InbreedingCoeff=-0.5792;MLEAC=14;MLEAF=0.389;MQ=46.12;MQRankSum=-2.189;QD=9.27;ReadPosRankSum=-0.593;SOR=0.681	GT:AD:DP:GQ:PL	0/1:4,6:10:99:216,0,101	5	0	13	1
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:82,37:119:99:1296,0,3303	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:83,17:100:99:164,0,2115	9	0	10	0
chr22	23883784	23883784	G	A	exonic	SLC2A11	.	nonsynonymous SNV	SLC2A11:NM_001024938:exon9:c.G997A:p.E333K,SLC2A11:NM_001024939:exon9:c.G1006A:p.E336K,SLC2A11:NM_030807:exon10:c.G1018A:p.E340K	.	433	1083	5	1	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.469	0.0229351117824	0.0035	0.00219649	0.0041	0.0004	0.0015	0	0.0056	0.0057	0.0025	0.0032	0.0037451	579	154602	rs79905160	0.0046	0.0046	0.0047	0.0045	0.0055	0.0045	0.0045	0.0050	0.0049	0.0006	0.0019	0.0013	0	0.0074	0.0055	0.0051	0.0040	0.0022	0.0043	0.0043	0.0041	0.0044	0.0064	0.0040	0.0039	0.0059	0.0057	0.0011	0	0.0033	0.0023	0	0.0077	0	0.0064	0.0057	0.0031	0.003	0.68238	D	0.011	0.64786	D	0.996	0.77913	D	0.909	0.64565	D	0.000213	0.47681	D	0.180340	0.999258	0.47641	D	3.44	0.92123	M	0.33	0.58323	T	-3.61	0.69477	D	0.512	0.55106	-0.0173	0.81894	T	0.358	0.72006	T	10	0.013962477	0.00294	T	0.022935	0.45870	T	0.469	0.76355	.	.	0.721725802581	0.71926	.	.	0.678322673278	0.59877	0.537106394768	0.44037	T	0.282028	0.65476	T	-0.248991	0.14223	T	-0.123896	0.61481	T	0.0408309846672076	0.03842	T	0.917708	0.70480	D	0.8040932	0.84168	0.65461147	0.79781	0.8040932	0.84170	0.65461147	0.79782	-9.707	0.72218	D	.	.	0.650	0.76156	P	.;.;.	.;.;.	4.450058	0.69162	25.3	0.99848852802937638	0.92838	0.99252	0.93473	D	AEFDGBI	0.844972	0.76190	D	0.626029843080131	0.74824	6.199053	0.45432411152839	0.64995	4.768076	0.999999967795171	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.17	4.17	0.48303	8.302000	0.89876	9.271000	0.79636	0.608000	0.46601	1.000000	0.71638	1.000000	0.68203	0.007000	0.07825	0.0:0.0:1.0:0.0	14.821	0.69699	976	0.04745	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	0.006559	0.010101	0.010870	0.000000	0.000000	0.008621	0.006173	0.000000	0.02632	2028.33	34	chr22	23883784	.	G	A	2028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.031;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=0.333;SOR=0.682	GT:AD:DP:GQ:PL	0/1:55,81:136:99:2042,0,1220	18	0	1	0
chr22	24184153	24184153	T	A	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon4:c.T457A:p.S153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.00943873079321	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.06282	T	0.074	0.42976	T	0.319	0.32965	B	0.094	0.30180	B	0.008169	0.30981	N	0.311908	0.697451	0.30134	N	2.405	0.69568	M	3.01	0.09075	T	-0.57	0.17210	N	0.498	0.53093	-1.0814	0.07079	T	0.026	0.10998	T	10	0.14600152	0.27687	T	0.009439	0.24739	T	0.052	0.14661	0.424	0.46857	0.195762928549	0.19159	0.6326155438678643	0.63195	0.285809531939	0.30989	0.483123451471	0.36486	T	0.010905	0.09797	T	-0.167898	0.25553	T	-0.47895	0.24558	T	0.17835017906104	0.19131	T	0.531447	0.17660	T	0.07232972	0.16083	0.05247355	0.08654	0.07232972	0.16082	0.05247355	0.08653	-3.012	0.10310	T	.	.	0.119	0.24498	B	.	.	2.473069	0.31879	18.87	0.89039777974645962	0.18461	0.86615	0.45932	D	AEFBI	0.178589	0.30586	N	-0.258417506112534	0.30767	1.718753	-0.214689268654412	0.31009	1.750944	0.975203572129108	0.29612	0.646311	0.45356	0	0.624146	0.53433	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	3.6	3.6	0.40374	1.724000	0.37685	2.804000	0.34869	0.661000	0.55757	0.971000	0.34370	1.000000	0.68203	0.612000	0.31691	0.0:0.0:0.0:1.0	10.610	0.44605	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2382.33	44	chr22	24184153	.	T	A	2382.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.105;DP=872;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.86;MQRankSum=-1.261;QD=13.24;ReadPosRankSum=-0.481;SOR=0.665	GT:AD:DP:GQ:PL	0/1:80,100:180:99:2396,0,1829	18	0	1	0
chr22	24185666	24185666	G	A	exonic	SUSD2	.	nonsynonymous SNV	SUSD2:NM_019601:exon8:c.G1076A:p.R359Q	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00457819736969	0.0002	0.000599042	0.0008	0.0005	0.0001	0	0	7.201e-05	0	0.0053	0.0006015	93	154602	rs151329251	0.0004	0.0004	0.0002	0.0006	0.0055	0.0004	0.0004	0.0050	0.0049	0.0001	0	0	0	9.697e-05	0.0030	5.045e-05	0.0004	0.0055	0.0002	0.0002	0.0001	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0.0002	0	6.538e-05	0	0	0	0	4.41e-05	0.0005	0.0029	0.948	0.02156	T	0.751	0.04790	T	0.017	0.17573	B	0.005	0.11217	B	0.077035	0.21128	N	0.456170	1	0.08975	N	-0.305	0.03614	N	2.01	0.21291	T	-0.24	0.10833	N	0.046	0.01825	-0.9811	0.34748	T	0.017	0.06807	T	10	0.007694185	0.00175	T	0.004578	0.11315	T	0.056	0.15993	.	.	0.0666544352282	0.05500	0.2110054086288696	0.21016	0.213243306905	0.23835	0.260188996792	0.04913	T	0.009026	0.08246	T	-0.637723	0.00086	T	-0.688143	0.06497	T	0.00103870730774802	0.00010	T	0.708829	0.31953	T	0.020210983	0.00571	0.024573008	0.00479	0.020210983	0.00571	0.024573008	0.00479	-3.988	0.23624	T	.	.	0.070	0.03372	B	.	.	-0.759138	0.01190	0.058	0.4744916123239456	0.03880	0.01548	0.05077	N	AEFDGBI	0.068670	0.13557	N	-1.4230018196375	0.02438	0.1076427	-1.47232256941928	0.02574	0.1186038	0.934269122594198	0.27163	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.37	-4.17	0.03595	-1.104000	0.03436	-2.173000	0.04106	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4032:0.0:0.3363:0.2605	3.860	0.08497	814	0.42100	AMOP domain|AMOP domain|AMOP 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	0.002020	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1415.33	36	chr22	24185666	.	G	A	1415.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.64;DP=745;ExcessHet=0;FS=5.24;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=0.443;SOR=0.337	GT:AD:DP:GQ:PL	0/1:44,50:94:99:1429,0,1062	18	0	1	0
chr22	27983494	27983494	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6173C:p.G2058A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.092232836446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.158e-06	1.3e-05	4.259e-06	0	2.79e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.79e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.382	0.15890	T	0.999	0.77913	D	0.996	0.84481	D	0.000562	0.43250	D	0.231958	0.999998	0.58761	D	2.005	0.54552	M	-3.55	0.94834	D	-1.3	0.32590	N	0.603	0.62103	0.873	0.95310	D	0.854	0.95149	D	10	0.3825744	0.54304	T	0.092233	0.75853	D	0.409	0.72099	0.19	0.10039	0.813956147583	0.81220	0.39497344297316855	0.39412	.	.	0.577225387096	0.49695	T	0.029009	0.20885	T	0.212969	0.75111	D	0.0681383	0.74787	D	0.896070539951324	0.54772	D	0.984702	0.94722	D	0.313312	0.54071	0.39437744	0.64133	0.313312	0.54071	0.39437744	0.64133	-2.954	0.09694	T	.	.	0.597	0.68768	P	.;.	.;.	4.504296	0.70476	25.5	0.99803016321568272	0.88728	0.97027	0.72267	D	AEFDBI	0.627685	0.61005	D	0.584171606304849	0.72186	5.766284	0.570052008804894	0.72802	5.867747	0.999999815894828	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	4.62	0.56946	5.680000	0.67831	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	17.344	0.87192	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	376.54	96	chr22	27983494	.	C	G	376.54	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-3.531;DP=1659;ExcessHet=1.3;FS=183.163;InbreedingCoeff=-0.2466;MLEAC=4;MLEAF=0.143;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=1.77;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,14:92:99:0|1:27983493_C_G:101,0,2774:27983493	11	0	3	5
chr22	27983495	27983495	C	G	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon23:c.G6172C:p.G2058R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.600	0.158398177192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.58613	D	1.0	0.90584	D	0.999	0.92359	D	0.000562	0.43250	N	0.231958	0.999999	0.58761	D	2.005	0.54552	M	-3.6	0.95009	D	-2.8	0.59226	D	0.789	0.78546	0.805	0.94474	D	0.837	0.94553	D	10	0.61998546	0.67922	D	0.158398	0.83880	D	0.600	0.84183	0.239	0.17065	0.750618531641	0.74836	0.5121720383386701	0.51139	.	.	0.657954216003	0.61117	T	0.095784	0.39692	T	0.353062	0.86712	D	0.269372	0.86538	D	0.99226039648056	0.82702	D	0.987934	0.95926	D	0.3778262	0.59159	0.5174505	0.72120	0.3778262	0.59159	0.5174505	0.72120	-4.333	0.28637	T	.	.	0.962	0.88285	P	.;.	.;.	4.774876	0.77330	26.7	0.9991599844056599	0.98379	0.99519	0.96998	D	AEFDBI	0.922723	0.89811	D	0.528874973212774	0.68806	5.26799	0.494853380951096	0.67649	5.112284	0.99999983332082	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.62	3.6	0.40374	7.481000	0.80171	7.580000	0.60937	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9161:0.0:0.0839	12.290	0.54132	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1281.88	98	chr22	27983495	.	C	G	1281.88	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-2.495;DP=1647;ExcessHet=2.9153;FS=208.381;InbreedingCoeff=-0.4601;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.84;ReadPosRankSum=1.61;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,14:92:99:0|1:27983493_C_G:101,0,2774:27983493	3	0	6	10
chr22	28679671	28679671	G	C	exonic	TTC28	.	nonsynonymous SNV	TTC28:NM_001145418:exon1:c.C53G:p.A18G	.	1069	452	0	1	0	2	0.00220751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.89689422662	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1234275172	0.0003	0.0042	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	4.156e-05	0.0002	0.0002	0	0.0004	0	0.0004	0.0003	0.0003	0.0001	0.0023	0.0001	0.0001	0.0002	7.162e-05	5.905e-05	9.18e-05	7.108e-05	7.252e-05	0.0011	0	0	0	9.59e-05	0	0.0002	0.0005	0	0.375	0.11370	T	0.261	0.22962	T	0.643	0.40492	P	0.364	0.43306	B	.	.	.	.	0.951176	0.26480	N	0	0.06538	N	-2.43	0.88689	D	-0.09	0.08340	N	0.116	0.10483	-0.4419	0.70667	T	0.463	0.79201	T	9	0.18117163	0.33336	T	0.896894	0.99222	D	0.201	0.48592	0.136	0.04008	0.649436034143	0.64652	0.20210439033523464	0.20127	.	.	0.823815107346	0.85613	D	0.004603	0.04008	T	-0.0602386	0.42870	T	-0.324305	0.42100	T	0.298744353561044	0.24952	T	0.430157	0.11673	T	0.07320659	0.16342	0.113837935	0.27476	0.07320659	0.16342	0.113837935	0.27475	-3.259	0.13214	T	.	.	0.086	0.10642	B	.	.	1.743357	0.22184	15.51	0.96029494542689509	0.28500	0.14534	0.18454	N	AEFDBHCI	0.064221	0.12458	N	-0.500448115593014	0.22065	1.175641	-0.571051935403129	0.20249	1.090102	0.999996121894867	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.166054	0.03999	2	0.492483	0.08430	1	.	.	2.4	2.4	0.28568	0.522000	0.22617	2.752000	0.34542	0.582000	0.30178	0.019000	0.19563	0.953000	0.29079	0.006000	0.07323	0.0:0.0:1.0:0.0	8.818	0.34168	472	0.77968	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	65.63	.	chr22	28679671	.	G	C	65.63	.	AC=1;AF=0.036;AN=28;BaseQRankSum=1.65;DP=37;ExcessHet=0;FS=3.979;InbreedingCoeff=-0.1345;MLEAC=2;MLEAF=0.071;MQ=39.26;MQRankSum=0.524;QD=13.13;ReadPosRankSum=1.65;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,2:5:75:0|1:28679671_G_C:75,0,120:28679671	13	0	1	5
chr22	29260717	29260717	T	C	exonic	RHBDD3	.	nonsynonymous SNV	RHBDD3:NM_001329536:exon5:c.A680G:p.H227R,RHBDD3:NM_012265:exon5:c.A680G:p.H227R	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	0.0056	0.00678914	0.0021	0.0217	0.0014	0	0	5.732e-05	0	0	0.0013842	214	154602	rs2231397	0.0005	0.0005	0.0006	0.0004	0.0169	0.0005	0.0004	0.0157	0.0152	0.0169	0.0010	0	0	0	0.0002	2.638e-05	0.0011	4.903e-05	0.0053	0.0053	0.0056	0.0049	0.0183	0.0050	0.0048	0.0172	0.0168	0.0183	0	0.0017	0	0	0	0	7.354e-05	0.0033	0.0002	0.137	0.25979	T	0.355	0.17217	T	0.006	0.13644	B	0.002	0.06944	B	0.484605	0.05001	N	1.312930	1	0.08975	N	1.445	0.36358	L	1.94	0.22678	T	-0.83	0.22727	N	0.196	0.21580	-1.0039	0.28785	T	0.022	0.09330	T	10	0.004280925	0.00086	T	.	.	.	0.063	0.18251	.	.	0.380052290102	0.37618	0.32896953580018645	0.32809	0.016866214272	0.01633	0.385819792747	0.23078	T	0.029612	0.21180	T	-0.691452	0.00041	T	-0.752373	0.03394	T	0.000750171598666941	0.00007	T	0.644436	0.25592	T	0.04533646	0.07402	0.052025452	0.08490	0.04533646	0.07401	0.052025452	0.08489	-2.066	0.03441	T	.	.	0.103	0.18247	B	.	.	1.258136	0.16555	12.62	0.78148786121522296	0.12176	0.23975	0.22248	N	AEFDBCI	0.077236	0.15556	N	-0.604012379836311	0.18822	0.9803379	-0.568123893811798	0.20327	1.094636	0.962029886433829	0.28593	0.631515	0.41029	0	0.643519	0.57511	0	0.697927	0.64325	0	0.683762	0.67416	0	.	.	4.96	1.52	0.22158	-0.048000	0.11898	1.268000	0.25273	0.665000	0.62972	0.091000	0.22601	0.909000	0.28100	0.140000	0.19946	0.2997:0.0858:0.1552:0.4594	1.391	0.02115	485	0.77085	.	.	.	.	.	.	Likely benign	0	0	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	0.003535	0.005051	0.005450	0.000000	0.000000	0.000000	0.003086	0.000000	0.02632	572.33	36	chr22	29260717	.	T	C	572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.877;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=0.449;SOR=0.816	GT:AD:DP:GQ:PL	0/1:30,23:53:99:586,0,745	18	0	1	0
chr22	31137971	31137971	G	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon4:c.C805A:p.P269T	.	410	1111	1	0	0	1	0.000449843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0137048844717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345579981	6.988e-06	9.577e-06	4.161e-06	9.859e-06	7.419e-05	3.53e-06	2.58e-06	3.161e-05	2.146e-05	0	0	0	0	0	0	1.82e-06	3.385e-05	7.419e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.009	0.66756	D	0.972	0.57405	D	0.647	0.52336	P	0.002315	0.36806	N	0.297905	1	0.08975	N	1.87	0.49600	L	1.56	0.29602	T	-3.68	0.70314	D	0.134	0.13055	-1.0148	0.25400	T	0.087	0.33830	T	10	0.23064637	0.40020	T	0.013705	0.33301	T	0.047	0.12962	0.537	0.64730	0.48763082235	0.48394	0.5920526451223974	0.59135	0.15301633933	0.17264	0.375092297792	0.21560	T	0.354723	0.72183	T	-0.26439	0.12389	T	-0.617555	0.11377	T	0.605766296386719	0.36630	D	0.728327	0.34315	T	0.12729673	0.29793	0.11312512	0.27300	0.12729673	0.29792	0.11312512	0.27300	-7.676	0.58841	D	.	.	0.119	0.24430	B	.	.	1.948332	0.24746	16.51	0.99413877878561763	0.63405	0.05152	0.10965	N	AEFDBI	0.081207	0.16429	N	-0.334812970367355	0.27835	1.530326	-0.511126833826869	0.21851	1.184027	0.998789073676043	0.37667	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.586402	0.36253	0	.	.	4.96	1.64	0.22949	-0.227000	0.09131	0.622000	0.20140	-0.104000	0.15758	0.000000	0.06391	0.025000	0.21018	0.583000	0.30967	0.1773:0.1491:0.5202:0.1534	2.324	0.03961	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1283.33	33	chr22	31137971	.	G	T	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.406;DP=1137;ExcessHet=0;FS=0.648;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=-0.775;SOR=0.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:79,54:133:99:0|1:31137971_G_T:1297,0,3080:31137971	18	0	1	0
chr22	37296036	37296036	C	T	exonic	CYTH4	.	nonsynonymous SNV	CYTH4:NM_001318024:exon4:c.C34T:p.R12C,CYTH4:NM_013385:exon4:c.C205T:p.R69C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.046366779724	.	.	9.693e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs762128641	6.845e-06	6.84e-06	6.809e-06	6.881e-06	7.56e-05	3.46e-06	2.52e-06	2.004e-05	1.055e-05	0	0	0	7.56e-05	0	0	5.398e-06	0	1.162e-05	1.314e-05	1.313e-05	2.569e-05	0	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.106	0.26037	B	0.03	0.21741	B	0.000060	0.53742	D	0.123947	0.999872	0.50225	D	2.085	0.57729	M	0.53	0.55090	T	-6.89	0.93257	D	0.487	0.52829	-0.8032	0.54956	T	0.155	0.48568	T	10	0.32832927	0.50103	T	0.046367	0.62424	D	0.134	0.36365	.	.	0.421483936565	0.41765	0.3755497706806028	0.37468	1.29413067989	0.82873	0.4807318151	0.36158	T	0.079785	0.44271	T	-0.163535	0.26217	T	-0.289915	0.45781	T	0.819673001766205	0.47749	D	0.991501	0.97315	D	0.21906173	0.44428	0.22517137	0.47453	0.21906173	0.44428	0.22517137	0.47452	-9.494	0.70821	D	.	.	0.284	0.55152	B	.;.;.;.	.;.;.;.	3.645382	0.51706	23.1	0.99528960310859915	0.69715	0.24636	0.22455	N	AEFDBI	0.293198	0.40388	N	-0.288473347386712	0.29593	1.642435	-0.32603496194996	0.27260	1.511423	0.999499565005492	0.40007	0.67177	0.52595	0	0.702456	0.74545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.06	2.65	0.30588	1.676000	0.37181	1.845000	0.29216	0.599000	0.40250	0.613000	0.27855	0.920000	0.28304	0.306000	0.24642	0.3457:0.5587:0.0:0.0956	6.507	0.21396	946	0.12043	Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain|Sec7 domain|Sec7 domain;Sec7 domain|Sec7 domain;Sec7 domain|Sec7 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	.	.	.	.	.	.	.	.	0.02632	1022.33	35	chr22	37296036	.	C	T	1022.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.713;DP=723;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=1.29;SOR=0.621	GT:AD:DP:GQ:PL	0/1:49,45:94:99:1036,0,1177	18	0	1	0
chr22	37723190	37723190	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.G634A:p.G212S	Deafness, autosomal recessive 28, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	.	271877	not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_28	MedGen:C3661900|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00666469321941	0.0008	0.000199681	0.0014	0.0002	0.0013	0	0	0.0018	0.0047	0.0013	0.001216	188	154602	rs201794404	0.0011	0.0011	0.0011	0.0012	0.0203	0.0011	0.0011	0.0173	0.0162	0.0005	0.0016	0.0090	2.519e-05	1.875e-05	0.0203	0.0009	0.0020	0.0011	0.0012	0.0012	0.0012	0.0011	0.0023	0.0010	0.0010	0.0017	0.0015	0.0004	0	0.0023	0.0098	0	0	0.0136	0.0012	0.0028	0.0008	0.017	0.51248	D	0.838	0.03631	T	0.023	0.18885	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	2.18	0.18875	T	-0.53	0.16393	N	0.066	0.03841	-1.0002	0.29860	T	0.029	0.12234	T	9	0.0058609545	0.00131	T	0.006665	0.17585	T	0.014	0.01968	.	.	0.249502417897	0.24576	0.06976947260766353	0.06914	0.133072040946	0.14984	0.321400910616	0.13634	T	0.036927	0.24287	T	-0.581121	0.00190	T	-0.626531	0.10678	T	0.0175898544922838	0.00492	T	0.50365	0.15850	T	0.04485732	0.07242	0.038555335	0.03751	0.04166958	0.06178	0.05428863	0.09308	-3.59	0.17713	T	.	.	0.090	0.12797	B	.;.	.;.	0.726326	0.10952	7.620	0.98341772258620186	0.40447	0.00971	0.03712	N	AEFDBI	0.034209	0.04198	N	-0.960232943589384	0.09464	0.4480437	-0.984591464499538	0.10131	0.5083148	0.110749369659039	0.16641	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.604944	0.38103	0	.	.	4.74	0.962	0.18763	0.258000	0.18156	-0.120000	0.11732	-0.114000	0.14653	0.018000	0.19461	0.000000	0.08366	0.001000	0.02609	0.2551:0.0:0.2654:0.4794	2.461	0.04263	910	0.22284	.;.	.	.	.	.	.	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	0.014617	0.005051	0.032609	0.011696	0.100000	0.008621	0.003067	0.003788	0.02632	1557.33	34	chr22	37723190	.	G	A	1557.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.91;DP=755;ExcessHet=0;FS=2.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=0.151;SOR=1.015	GT:AD:DP:GQ:PL	0/1:49,53:102:99:1571,0,1174	18	0	1	0
chr22	37878164	37878164	T	C	exonic	EIF3L	.	nonsynonymous SNV	EIF3L:NM_001242923:exon9:c.T1424C:p.I475T,EIF3L:NM_001363785:exon10:c.T1274C:p.I425T,EIF3L:NM_016091:exon11:c.T1568C:p.I523T	.	429	1091	1	1	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.764	0.297544172184	.	.	5.36e-05	0	0	0	0	0	0	0.0005	3.88e-05	6	154602	rs764111523	3.025e-05	3.01e-05	1.093e-05	4.982e-05	0.0007	2.293e-05	2.043e-05	0.0002	0.0002	0	0	0	2.527e-05	0	0.0007	6.322e-06	4.997e-05	0.0003	1.314e-05	1.313e-05	0	2.69e-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	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.565	0.75005	M	0.31	0.58613	T	-4.2	0.76740	D	0.975	0.98657	0.037	0.82998	D	0.443	0.78039	T	10	0.88166	0.87479	D	0.297544	0.90773	D	0.764	0.92004	0.797	0.91729	0.745575478033	0.74328	.	.	1.94605654675	0.93335	0.935939252377	0.99289	D	0.170089	0.69353	T	0.133651	0.67715	D	0.251763	0.85705	D	0.82005763053894	0.47777	D	0.937806	0.91539	D	0.7191922	0.79117	0.6208672	0.77913	0.7191922	0.79118	0.6208672	0.77914	-11.365	0.81948	D	.	.	0.987	0.92764	P	.;.;.;.;.	.;.;.;.;.	5.816788	0.93681	33	0.99770039139880828	0.85834	0.98403	0.82420	D	AEFBI	0.938828	0.93858	D	0.812945557806427	0.86908	9.039153	0.738936786504492	0.85327	8.547869	0.999991259297995	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.07	5.07	0.68106	7.978000	0.87686	7.745000	0.68059	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	13.697	0.62066	797	0.45241	Proteasome component (PCI) domain;Proteasome component (PCI) domain;.;Proteasome component (PCI) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1245.33	43	chr22	37878164	.	T	C	1245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=781;ExcessHet=0;FS=0.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=1.3;SOR=0.793	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1259,0,1253	18	0	1	0
chr22	42566313	42566313	T	C	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon7:c.T431C:p.L144P,SERHL2:NM_014509:exon9:c.T623C:p.L208P	.	.	.	.	.	.	.	.	.	.	.	2677128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.268	0.0223351708481	.	.	7.437e-05	0	0	0	0	7.519e-05	0	0.0002	6.47e-05	10	154602	rs758711341	1.781e-05	1.779e-05	1.636e-05	1.928e-05	0.0003	1.239e-05	1.053e-05	0.0001	8.647e-05	0	0	0	0	0	0.0003	8.099e-06	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.009	0.79402	D	0.999	0.77913	D	0.914	0.68939	D	0.035608	0.24623	N	0.346259	0.999849	0.81001	D	2.85	0.82803	M	2.6	0.13204	T	-4.17	0.82141	D	0.85	0.87481	-1.1073	0.03312	T	0.076	0.30584	T	10	0.83325714	0.82485	D	0.022335	0.45218	T	0.268	0.58254	0.711	0.84691	0.165133752707	0.16062	0.8144742275503151	0.81403	0.00371297511254	0.00321	0.47880256176	0.35892	T	0.059366	0.31095	T	-0.193056	0.21810	T	-0.218896	0.52842	T	0.777889609336853	0.44919	D	0.770723	0.40088	T	0.8285498	0.85802	0.7162378	0.83251	0.8285498	0.85803	0.7162378	0.83252	-11.775	0.83737	D	.	.	0.306	0.65599	B	.;.;.	.;.;.	3.988162	0.58674	24.0	0.99821269065518459	0.90414	0.67787	0.33560	D	AEFGBHCI	0.282981	0.39619	N	0.37877585645775	0.60274	4.21452	0.268118729684408	0.53686	3.536437	0.048810016244583	0.14782	0.536635	0.22144	0	0.550933	0.16991	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	4.2	4.2	0.48814	2.290000	0.43193	1.683000	0.28024	0.665000	0.62972	1.000000	0.71638	0.985000	0.30750	0.498000	0.28972	0.2597:0.0:0.0:0.7403	7.049	0.24244	255	0.89985	Alpha/beta hydrolase fold-1;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1037.33	35	chr22	42566313	.	T	C	1037.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.372;DP=735;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.06;SOR=0.78	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1051,0,1150	18	0	1	0
chr22	46397724	46397724	T	C	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon12:c.A5651G:p.N1884S,CELSR1:NM_014246:exon12:c.A5651G:p.N1884S	.	417	1053	52	0	0	52	0.0240964	.	.	.	2736118	not_provided|CELSR1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	.	0.0035	0.00439297	0.0102	0.0019	0.0097	0.0003	0.0262	0.0119	0.0145	0.0112	0.0043208	668	154602	rs144122307	0.0055	0.0055	0.0054	0.0056	0.0336	0.0054	0.0054	0.0297	0.0282	0.0009	0.0044	0.0041	2.63e-05	0.0065	0.0336	0.0056	0.0063	0.0071	0.0043	0.0043	0.0041	0.0046	0.0060	0.0041	0.0040	0.0051	0.0049	0.0013	0	0.0050	0.0023	0.0002	0.0087	0.0068	0.0055	0.0095	0.0060	0.095	0.31235	T	0.099	0.38891	T	0.104	0.25941	B	0.024	0.20255	B	0.000929	0.41028	U	0.149021	0.970658	0.25693	N	1.8	0.47472	L	1.59	0.28836	T	-2.85	0.60029	D	0.468	0.50418	-1.0883	0.05821	T	0.051	0.21689	T	10	0.0123339	0.00265	T	.	.	.	0.099	0.28413	.	.	0.51743518642	0.51388	0.17866635132833883	0.17785	0.180036691928	0.20253	0.33372759819	0.15496	T	0.476755	0.80727	T	-0.553792	0.00277	T	-0.564115	0.15992	T	0.0322841818226493	0.02352	T	0.834417	0.50357	T	0.123880945	0.29080	0.12335056	0.29745	0.123880945	0.29079	0.12335056	0.29745	-5.796	0.44540	T	.	.	0.093	0.14062	B	.	.	2.594154	0.33663	19.40	0.90232056920767623	0.19504	0.97015	0.72198	D	AEFDBI	0.707286	0.66206	D	-0.195903848770706	0.33304	1.887959	-0.176973184716431	0.32385	1.84195	0.999991459268569	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.39	4.39	0.52211	5.776000	0.68576	7.625000	0.62478	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.004000	0.06068	0.0:0.0:0.0:1.0	13.567	0.61287	970	0.06235	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.022750	0.020408	0.020436	0.032164	0.100000	0.025862	0.018750	0.011364	0.02632	818.33	36	chr22	46397724	.	T	C	818.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.149;DP=700;ExcessHet=0;FS=3.363;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.535;SOR=0.352	GT:AD:DP:GQ:PL	0/1:31,36:67:99:832,0,712	18	0	1	0
chr22	50579775	50579775	T	C	exonic	CHKB	.	nonsynonymous SNV	CHKB:NM_005198:exon9:c.A983G:p.Q328R	Muscular dystrophy, congenital, megaconial type, Autosomal recessive	1	1479	40	2	0	44	0.0146569	.	.	.	134179	not_provided|Megaconial_type_congenital_muscular_dystrophy|not_specified	MedGen:C3661900|MONDO:MONDO:0011246,MedGen:C1865233,OMIM:602541,Orphanet:280671|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	0.00535585406914	0.0046	0.00199681	0.0041	0.0006	0.0030	0	0.0005	0.0051	0.0088	0.0061	0.0039974	618	154602	rs141381896	0.0049	0.0049	0.0047	0.0050	0.0088	0.0048	0.0047	0.0069	0.0062	0.0010	0.0031	0.0026	7.557e-05	0.0014	0.0088	0.0053	0.0054	0.0062	0.0033	0.0034	0.0036	0.0031	0.0066	0.0031	0.0030	0.0049	0.0047	0.0008	0	0.0025	0.0026	0.0002	0.0012	0.0204	0.0054	0.0052	0.0066	0.526	0.07116	T	0.526	0.10245	T	0.0	0.02946	B	0.0	0.01387	B	0.393601	0.04492	N	1.372900	1	0.08975	N	1.3	0.32576	L	0.43	0.56772	T	-0.62	0.18248	N	0.139	0.13769	-1.0399	0.17343	T	0.071	0.28806	T	10	0.0036141276	0.00066	T	0.005356	0.13710	T	0.042	0.11227	.	.	0.293147016451	0.28931	0.21814341777740848	0.21730	.	.	0.189679294825	0.00219	T	0.100072	0.40551	T	-0.63138	0.00094	T	-0.676959	0.07171	T	0.000577618257265074	0.00005	T	0.113289	0.00862	T	0.09625146	0.22669	0.10601321	0.25496	0.13090196	0.30530	0.094691224	0.22425	-5.268	0.39625	T	.	.	0.060	0.00919	B	.	.	0.435510	0.08059	4.781	0.69638809155130055	0.09037	0.10516	0.16001	N	AEFDBI	0.137658	0.25871	N	-1.16186174551854	0.05588	0.2551048	-1.15432138866421	0.06691	0.3229024	0.999999684092136	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.44	-3.32	0.04663	-0.178000	0.09775	-1.307000	0.05758	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0:0.1536:0.5007:0.3456	8.625	0.33045	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	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	0.017098	0.020202	0.013587	0.010490	0.050000	0.017241	0.030488	0.011364	0.05263	2925.83	40	chr22	50579775	.	T	C	2925.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.009;DP=954;ExcessHet=0.119;FS=4.288;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.204;SOR=0.949	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1431,0,1461	17	0	2	0
chrX	6533918	6533918	C	G	exonic	VCX3A	.	nonsynonymous SNV	VCX3A:NM_016379:exon3:c.G388C:p.V130L	.	544	964	11	0	3	14	0.00567303	.	.	.	1318923	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.007	0.00113823230889	.	.	4.171e-05	0	0.0001	0.0002	0	2.631e-05	0	0	0.0001537	4	26028	rs780354662	0.0006	0.0027	0.0008	0.0001	0.0045	0.0006	0.0005	0.0039	0.0036	0.0002	0.0045	0.0008	0.0003	0.0010	0.0008	0.0005	0.0009	0.0004	0.0027	0.0049	0.0035	0	0.0095	0.0024	0.0023	0.0076	0.0070	0.0020	0.0101	0.0095	0.0014	0.0007	0.0011	0	0.0023	0.0047	0.0012	0.49	0.07994	T	0.409	0.14588	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.23600	N	0.755	0.19153	N	2.2	0.18570	T	-1.11	0.28703	N	0.043	0.01577	-0.9677	0.37673	T	0.018	0.07423	T	8	0.0094252825	0.00213	T	0.001138	0.01410	T	0.007	0.00512	0.176	0.08257	0.043077524339	0.03247	0.0029763199075203426	0.00277	0.262585590398	0.28824	0.465717852116	0.34094	T	0.005635	0.05080	T	-0.812437	0.00006	T	-1.0337	0.00085	T	0.006969164911672	0.00079	T	0.438156	0.12052	T	0.095408544	0.22454	0.074618824	0.16342	0.095408544	0.22454	0.074618824	0.16342	-7.177	0.55316	T	.	.	0.159	0.35204	B	.	.	-0.490809	0.01897	0.157	0.28057428731072176	0.01423	0.00230	0.01288	N	AEFI	.	.	.	.	.	.	.	.	.	1.32790682951601E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.896000	0.01696	-1.954000	0.04440	-1.658000	0.00817	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.9998:0.0:2.0E-4	6.624	0.22011	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	419.59	161	chrX	6533918	.	C	G	419.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-1.551;DP=1362;ExcessHet=0.119;FS=93.078;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=34.93;MQRankSum=-1.239;QD=4.61;ReadPosRankSum=-2.827;SOR=5.781	GT:AD:DP:GQ:PL	0/1:12,8:20:99:275,0,305	16	0	2	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	.	.	.	.	.	.	.	.	0.1842	1000.93	34	chrX	10469688	.	G	A	1000.93	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.75;DP=1491;ExcessHet=2.9153;FS=112.758;InbreedingCoeff=-0.2319;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=1.26;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,13:91:27:0|1:10469688_G_A:27,0,2764:10469688	12	0	7	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	.	.	.	.	.	.	.	.	0.2778	1584.05	171	chrX	10469690	.	T	C	1584.05	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.023;DP=1724;ExcessHet=6.9875;FS=123.179;InbreedingCoeff=-0.382;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=1.35;SOR=10.876	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,21:93:99:0|1:10469688_G_A:224,0,1519:10469688	8	0	10	1
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	.	.	.	.	.	.	.	.	0.1389	586.59	37	chrX	10469693	.	T	C	586.59	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.473;DP=1398;ExcessHet=1.3;FS=110.107;InbreedingCoeff=-0.1633;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=1.41;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,14:92:34:0|1:10469688_G_A:34,0,2761:10469688	13	0	5	1
chrX	13663307	13663307	A	G	exonic	TCEANC	.	nonsynonymous SNV	TCEANC:NM_001297564:exon3:c.A799G:p.K267E,TCEANC:NM_152634:exon4:c.A889G:p.K297E,TCEANC:NM_001297563:exon5:c.A799G:p.K267E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.08987597296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	0.996	0.68779	D	0.913	0.64886	D	0.001128	0.40136	N	0.161479	0.746526	0.33881	D	3.855	0.95805	H	0.44	0.56609	T	-3.23	0.65056	D	0.31	0.35832	0.037	0.82981	D	0.371	0.73031	T	10	0.5432365	0.63838	D	0.089876	0.75411	D	0.332	0.65424	0.555	0.67271	0.695940529277	0.69331	0.36439688528945874	0.36353	.	.	0.410109519958	0.26472	T	0.236152	0.60357	T	-0.0246998	0.48182	T	-0.273256	0.47491	T	0.983759999275208	0.75304	D	0.877212	0.61653	D	0.9298804	0.94225	0.9066568	0.95450	0.9298804	0.94226	0.9066568	0.95451	-6.25	0.48999	T	.	.	0.257	0.51874	B	.;.	.;.	3.920470	0.57237	23.8	0.99819633904785388	0.90238	0.93833	0.59322	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999998337117584	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.2	0.48814	4.336000	0.59087	7.628000	0.62604	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8526:0.1474:0.0:0.0	11.579	0.50134	519	0.74455	Transcription elongation factor S-II, central domain|Transcription elongation factor S-II, central domain|Transcription elongation factor S-II, central domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2472.81	36	chrX	13663307	.	A	G	2472.81	.	AC=2;AF=0.053;AN=38;DP=955;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.7;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2500,234,0	18	1	0	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	1243.64	146	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	1243.64	.	AC=9;AF=0.321;AN=28;BaseQRankSum=1.99;DP=1570;ExcessHet=0.0012;FS=7.718;InbreedingCoeff=0.3681;MLEAC=11;MLEAF=0.393;MQ=59.79;MQRankSum=0;QD=6.38;ReadPosRankSum=2.49;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,7:7:80:1|1:24364308_TG_T:1032,80,0:24364308	9	4	1	5
chrX	24503367	24503367	G	A	exonic	PDK3	.	nonsynonymous SNV	PDK3:NM_001142386:exon4:c.G361A:p.D121N,PDK3:NM_005391:exon4:c.G361A:p.D121N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.426006832826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457	0.08813	T	0.621	0.09113	T	0.0	0.02946	B	0.004	0.10090	B	0.000002	0.62929	N	0.095949	1	0.81001	D	0.57	0.15267	N	1.61	0.30937	T	-2.35	0.52289	N	0.554	0.57946	-1.0673	0.10017	T	0.051	0.21495	T	10	0.5229167	0.62745	D	0.426007	0.93888	D	0.164	0.42212	0.711	0.84691	0.614043529789	0.61093	.	.	0.97123940246	0.73372	0.749880313873	0.74429	T	0.185281	0.53820	T	-0.243496	0.14907	T	-0.587541	0.13880	T	0.808011174201965	0.46907	D	0.922708	0.71908	D	0.5269711	0.68658	0.6230506	0.78034	0.5269711	0.68659	0.6230506	0.78035	-5.514	0.42920	T	0.11003014822549442	0.09253	0.135	0.29450	B	.;.	.;.	3.592800	0.50711	23.0	0.99553770888561177	0.71335	0.98611	0.84680	D	AEFGI	.	.	.	.	.	.	.	.	.	0.999999748202851	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.73	5.73	0.89730	8.103000	0.89389	11.762000	0.95653	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.918	0.92487	533	0.73433	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1862.81	34	chrX	24503367	.	G	A	1862.81	.	AC=2;AF=0.053;AN=38;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.05;SOR=1.234	GT:AD:DP:GQ:PL	1/1:0,62:62:99:1890,186,0	18	1	0	0
chrX	37043663	37043663	C	T	exonic	FTHL18	.	nonsynonymous SNV	FTHL18:NM_001271682:exon1:c.G26A:p.R9H	.	443	1053	15	11	0	37	0.0172655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00900662	.	.	.	.	.	.	.	.	0.0070693	184	26028	rs371118345	0.0118	0.0089	0.0119	0.0117	0.0451	0.0116	0.0115	0.0420	0.0408	0.0008	0.0022	0.0031	0.0003	0.0084	0.0106	0.0115	0.0118	0.0451	0.0073	0.0076	0.0072	0.0073	0.0397	0.0068	0.0067	0.0336	0.0313	0.0015	0	0.0032	0.0030	0.0003	0.0063	0.0183	0.0106	0.0092	0.0397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1365.81	35	chrX	37043663	.	C	T	1365.81	.	AC=2;AF=0.053;AN=38;DP=708;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=59.83;QD=33.31;SOR=1.206	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1393,123,0	18	1	0	0
chrX	46860080	46860080	C	G	exonic	RP2	.	nonsynonymous SNV	RP2:NM_006915:exon3:c.C861G:p.D287E	Retinitis pigmentosa 2, X-linked	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.230313912941	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1164991027	1.322e-05	0.0002	1.926e-05	0	1.486e-05	7.67e-06	6e-06	7.92e-06	6.26e-06	0	0	0	0	2.497e-05	0	1.486e-05	2.235e-05	0	1.798e-05	2.619e-05	2.576e-05	0	6.526e-05	2.99e-06	1.12e-06	1.081e-05	4.04e-06	6.526e-05	0	0	0	0	0	0	0	0	0	0.761	0.03471	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.004404	0.33773	N	0.334919	0.507853	0.31672	N	0.57	0.15267	N	-1.05	0.76690	T	0.03	0.06612	N	0.03	0.00717	-0.9042	0.47538	T	0.175	0.51911	T	10	0.058759242	0.06959	T	0.230314	0.88224	D	0.168	0.42943	0.195	0.10705	0.128874641272	0.12493	0.2934621766006824	0.29259	0.277198454346	0.30193	0.347113490105	0.17496	T	0.056646	0.30345	T	-0.384829	0.02904	T	-0.790557	0.02150	T	0.0884944275021553	0.11037	T	0.659134	0.26825	T	0.07924659	0.18093	0.045651473	0.06190	0.07924659	0.18093	0.045651473	0.06189	-3.296	0.13686	T	0.16473243430326467	0.20376	0.083	0.09094	B	.	.	1.155586	0.15440	11.85	0.95785485670045956	0.27815	0.83476	0.42591	D	AEFBI	.	.	.	.	.	.	.	.	.	0.752834093680785	0.23387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.65	-0.524	0.11325	-0.132000	0.10446	0.440000	0.18415	0.599000	0.40250	0.838000	0.30254	0.994000	0.32194	0.991000	0.66497	0.3325:0.2238:0.0:0.4437	4.248	0.10130	131	0.94738	Tubulin binding cofactor C-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	85.14	33	chrX	46860080	.	C	G	85.14	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.058;DP=678;ExcessHet=0.3672;FS=247.053;InbreedingCoeff=-0.0851;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1;SOR=8.121	GT:AD:DP:GQ:PL	0/1:24,8:32:11:11,0,502	16	0	3	0
chrX	49216478	49216478	C	T	exonic	CACNA1F	.	nonsynonymous SNV	CACNA1F:NM_001256789:exon27:c.G3140A:p.R1047Q,CACNA1F:NM_001256790:exon27:c.G2978A:p.R993Q,CACNA1F:NM_005183:exon27:c.G3173A:p.R1058Q	Aland Island eye disease, X-linked;Cone-rod dystrophy, X-linked, 3, X-linked recessive;Night blindness, congenital stationary (incomplete), 2A, X-linked, X-linked	0	1521	1	0	0	1	0.000328623	.	.	.	951834	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.433	0.262952847915	9.5e-05	.	9.893e-05	0.0002	0	0	0	0	0	0.0007	7.12e-05	11	154602	rs373254725	4.027e-05	4.007e-05	2.997e-05	6.136e-05	0.0005	3.052e-05	2.718e-05	0.0003	0.0002	0	0	0	0.0002	0	0.0005	1.311e-05	6.532e-05	0.0004	5.349e-05	5.223e-05	6.423e-05	2.912e-05	0.0004	2.319e-05	1.56e-05	4.422e-05	2.634e-05	0.0001	0	0	0	0	0	0	1.878e-05	0	0.0004	0.581	0.06648	T	0.582	0.08448	T	0.094	0.25382	B	0.048	0.24975	B	0.000049	0.53742	D	0.116156	0.870431	0.35553	D	1.07	0.27075	L	-4.9	0.98333	D	-0.73	0.26422	N	0.047	0.01911	0.757	0.93878	D	0.827	0.94189	D	10	0.076431125	0.11940	T	0.262953	0.89581	D	0.433	0.73879	.	.	0.867274606884	0.86598	0.8239294886679948	0.82349	0.258217142244	0.28380	0.377036631107	0.21835	T	0.493403	0.81697	T	-0.10636	0.35370	T	-0.0724815	0.65450	T	0.0550305133305825	0.06362	T	0.843016	0.51993	T	0.25131202	0.48139	0.16480973	0.38159	0.25131202	0.48139	0.16480973	0.38158	-6.831	0.54383	T	0.10571172302205964	0.08413	0.075	0.11220	B	.;.;.	.;.;.	2.921724	0.38785	20.8	0.98432810642077029	0.41420	0.30280	0.24042	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.982058376665338	0.30346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.94	4.94	0.64645	0.240000	0.17822	1.406000	0.26239	0.599000	0.40250	0.001000	0.13787	0.788000	0.26838	0.996000	0.76049	0.1825:0.8175:0.0:0.0	11.285	0.48450	38	0.97995	.;.;Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.002755	0.006897	0.000000	0.000000	0.000000	0.011765	0.008850	0.000000	0.05263	3324.81	34	chrX	49216478	.	C	T	3324.81	.	AC=2;AF=0.053;AN=38;DP=734;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=29.69;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3352,336,0	18	1	0	0
chrX	50695789	50695789	C	T	exonic	SHROOM4	.	nonsynonymous SNV	SHROOM4:NM_020717:exon2:c.G266A:p.R89K	.	1	1472	31	18	0	67	0.0222517	.	.	.	209089	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.254	0.0218717520706	0.0014	0.0010596	0.0021	0.0004	0.0014	0	0	0.0019	0.0079	0.0068	0.0019081	295	154602	rs148911180	0.0016	0.0016	0.0015	0.0020	0.0237	0.0016	0.0015	0.0199	0.0185	0.0004	0.0018	0.0103	3.311e-05	7.404e-05	0.0237	0.0010	0.0032	0.0076	0.0012	0.0012	0.0012	0.0011	0.0046	0.0010	0.0010	0.0027	0.0021	0.0003	0	0.0022	0.0106	0.0003	0	0.0095	0.0010	0.0052	0.0046	0.131	0.26629	T	0.481	0.11864	T	1.0	0.90584	D	0.998	0.88582	D	0.024429	0.26263	N	0.266037	0.999927	0.51308	D	0.94	0.23649	L	2.84	0.10674	T	-0.33	0.12472	N	0.127	0.12055	-1.1202	0.02319	T	0.040	0.17277	T	10	0.009545982	0.00215	T	0.021872	0.44695	T	0.254	0.56428	.	.	0.187035705434	0.18338	0.8390109747708314	0.83861	0.416103862279	0.42257	0.640063405037	0.58574	T	0.006684	0.06107	T	-0.54695	0.00304	T	-0.554287	0.16916	T	0.0245678350115657	0.01216	T	0.717928	0.33070	T	0.12738082	0.29809	0.15544306	0.36437	0.17947769	0.39020	0.1804072	0.40837	-1.708	0.02250	T	.	.	0.394	0.59516	A	.;.	.;.	3.269895	0.44751	22.0	0.96192195825031146	0.28994	0.94421	0.61111	D	AEFI	.	.	.	.	.	.	.	.	.	0.999999998138105	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	4.565000	0.60552	5.862000	0.50443	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	15.384	0.74406	832	0.38914	PDZ domain|PDZ domain;PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.007591	0.000000	0.003711	0.011858	0.000000	0.000000	0.008850	0.021053	0.1053	1853.39	35	chrX	50695789	.	C	T	1853.39	.	AC=4;AF=0.105;AN=38;DP=651;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.105;MQ=60;QD=34.97;SOR=1.791	GT:AD:DP:GQ:PL	1/1:0,23:23:69:811,69,0	17	2	0	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	4403.4	547	chrX	55146088	.	G	T	4403.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.5;DP=11340;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.409;SOR=0.729	GT:AD:DP:GQ:PL	0/1:462,102:564:99:1617,0,13747	13	0	6	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	0/1:59,532:591:30:17177,0,30	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:454,155:609:99:2903,0,12534	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:465,152:617:99:0|1:55146173_G_A:4553,0,17956:55146173	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:412,129:541:99:0|1:55146173_G_A:4031,0,16689:55146173	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:56,423:479:99:13894,0,240	0	0	19	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	10743.0	426	chrX	55146242	.	C	T	10743.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=1.85;DP=7675;ExcessHet=6.9875;FS=0;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.82;ReadPosRankSum=-0.553;SOR=0.701	GT:AD:DP:GQ:PL	0/1:297,82:379:99:1348,0,9841	8	0	10	1
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,82:365:99:0|1:55146247_G_C:2501,0,11454:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:275,77:352:99:0|1:55146247_G_C:2395,0,11219:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:123,212:335:99:7962,0,4436	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,73:333:99:0|1:55146247_G_C:2283,0,10698:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:42,221:263:99:9116,0,1062	0	0	19	0
chrX	100688421	100688423	TCT	-	exonic	SYTL4	.	nonframeshift deletion	SYTL4:NM_001174068:exon10:c.933_935del:p.E311del,SYTL4:NM_001370161:exon10:c.933_935del:p.E311del,SYTL4:NM_001129896:exon11:c.933_935del:p.E311del,SYTL4:NM_001370162:exon11:c.933_935del:p.E311del,SYTL4:NM_001370163:exon11:c.933_935del:p.E311del,SYTL4:NM_001370164:exon11:c.933_935del:p.E311del,SYTL4:NM_001370169:exon11:c.933_935del:p.E311del,SYTL4:NM_001370160:exon12:c.933_935del:p.E311del,SYTL4:NM_001370166:exon12:c.933_935del:p.E311del,SYTL4:NM_080737:exon12:c.933_935del:p.E311del,SYTL4:NM_001370165:exon13:c.933_935del:p.E311del,SYTL4:NM_001370167:exon13:c.933_935del:p.E311del,SYTL4:NM_001370168:exon13:c.933_935del:p.E311del	.	432	1077	11	2	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0148	0.00317881	0.0015	0.0018	0.0023	0.0003	0.0012	0.0016	0.0036	0.0003	0.0006147	16	26028	rs200492084	0.0006	0.0013	0.0006	0.0005	0.0144	0.0005	0.0005	0.0114	0.0104	0.0004	0.0008	5.199e-05	3.324e-05	0.0009	0.0144	0.0005	0.0007	0.0003	0.0005	0.0005	0.0006	0.0003	0.0007	0.0004	0.0004	0.0006	0.0005	0.0002	0	0.0003	0	0	0.0007	0.0094	0.0007	0.0007	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063328	0.013699	0.066790	0.052133	0.000000	0.082353	0.053097	0.094737	0.05263	1377.77	39	chrX	100688420	.	GTCT	G	1377.77	.	AC=2;AF=0.053;AN=38;DP=681;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.66;SOR=1.681	GT:AD:DP:GQ:PL	1/1:0,32:32:97:1405,97,0	18	1	0	0
chrX	120626865	120626865	C	T	exonic	C1GALT1C1	.	nonsynonymous SNV	C1GALT1C1:NM_001011551:exon2:c.G302A:p.S101N,C1GALT1C1:NM_152692:exon3:c.G302A:p.S101N	Tn polyagglutination syndrome, somatic	10	1490	14	8	0	30	0.00996678	.	.	.	717622	Polyagglutinable_erythrocyte_syndrome|C1GALT1C1-related_disorder|not_provided	MONDO:MONDO:0010381,MedGen:C0272137,OMIM:300622|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.193	.	0.0057	0.00238411	0.0041	0.0008	0.0015	0	0.0007	0.0069	0	0.0003	0.004379	677	154602	rs149340486	0.0077	0.0077	0.0079	0.0072	0.0093	0.0075	0.0075	0.0092	0.0091	0.0016	0.0022	0.0012	0	0.0011	0.0041	0.0093	0.0071	0.0003	0.0048	0.0048	0.0051	0.0041	0.0081	0.0044	0.0043	0.0075	0.0073	0.0009	0.0351	0.0033	0	0	0.0008	0.0046	0.0081	0.0046	0.0004	0.048	0.40068	D	0.059	0.45961	T	0.008	0.14655	B	0.009	0.14300	B	0.000001	0.62929	D	0.130298	0.999629	0.47904	D	3.49	0.92661	M	0.43	0.56772	T	-2.58	0.55662	D	0.178	0.19190	-0.8236	0.53708	T	0.158	0.49076	T	9	0.008848816	0.00200	T	.	.	.	0.193	0.47281	.	.	0.570576466009	0.56723	0.8955911564950547	0.89530	0.279624298018	0.30451	0.508171081543	0.39967	T	0.67301	0.90316	D	-0.366157	0.03793	T	-0.28934	0.45842	T	0.0655921408888284	0.08019	T	0.644436	0.25592	T	0.72403914	0.79387	0.5639716	0.74766	0.6902045	0.77524	0.5337955	0.73061	-6.738	0.52096	T	.	.	0.863	0.80677	P	.;.	.;.	3.036818	0.40699	21.2	0.98940314956850728	0.48921	0.95638	0.65526	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999983758341	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.32	5.32	0.75377	4.701000	0.61496	6.010000	0.52630	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	16.708	0.85234	937	0.14592	.;.	LAMP2|TMEM255A	Adrenal_Gland|Nerve_Tibial	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.005510	0.006803	0.003711	0.007905	0.000000	0.000000	0.013274	0.000000	0.05263	6190.81	37	chrX	120626865	.	C	T	6190.81	.	AC=2;AF=0.053;AN=38;DP=869;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.91;SOR=0.87	GT:AD:DP:GQ:PL	1/1:0,194:194:99:6218,582,0	18	1	0	0
chrX	120874943	120874969	TCCTCTGTGGCCTCCTCTGTGAGCTTC	-	exonic	CT47B1	.	nonframeshift deletion	CT47B1:NM_001145718:exon1:c.702_728del:p.K235_E243del	.	17	1471	27	7	0	41	0.0137446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0053	0.0005	0.0043	0	0.0056	0.0076	0.0080	0.0024	0.0002689	7	26028	rs771317536	0.0051	0.0052	0.0052	0.0049	0.0188	0.0050	0.0049	0.0152	0.0138	0.0008	0.0040	0.0044	0	0.0069	0.0188	0.0055	0.0057	0.0017	0.0046	0.0046	0.0047	0.0043	0.0074	0.0042	0.0041	0.0068	0.0066	0.0006	0.0190	0.0027	0.0049	0	0.0051	0.0047	0.0074	0.0060	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	1531.77	33	chrX	120874942	.	TTCCTCTGTGGCCTCCTCTGTGAGCTTC	T	1531.77	.	AC=2;AF=0.053;AN=38;DP=670;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=33.68;SOR=1.002	GT:AD:DP:GQ:PL	1/1:0,35:35:99:1559,106,0	18	1	0	0
chrX	125322110	125322110	A	G	exonic	TEX13C	.	nonsynonymous SNV	TEX13C:NM_001195272:exon1:c.A1991G:p.E664G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199461907	7.576e-06	8.745e-06	7.993e-06	6.859e-06	8.201e-05	2.02e-06	5.6e-07	1.45e-06	5.4e-07	8.201e-05	0	0	0	0	0	8.702e-06	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.128	0.34959	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	0.07403767	0.11266	T	.	.	.	.	.	.	.	.	.	0.04312264486047229	0.04257	.	.	0.285361558199	0.08251	T	0.003698	0.03111	T	.	.	.	.	.	.	.	.	.	0.218178	0.02774	T	0.03986577	0.05586	0.07827058	0.17516	0.03986577	0.05585	0.07827058	0.17516	-2.795	0.08138	T	.	.	0.069	0.03060	B	.	.	-1.267102	0.00467	0.010	0.66327137777594303	0.08027	0.00009	0.00143	N	AEFI	.	.	.	.	.	.	.	.	.	1.89627300782153E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	0.0443366	0.03230	1.95	1.06	0.19341	-1.084000	0.03503	-20.000000	0.00162	-0.777000	0.03376	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4087:0.0:0.5913:0.0	4.216	0.09989	889	0.27310	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	546.81	33	chrX	125322110	.	A	G	546.81	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.984;DP=1090;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=57.73;MQRankSum=-0.515;QD=32.17;ReadPosRankSum=-1.023;SOR=0.223	GT:AD:DP:GQ:PL	1/1:1,16:17:99:574,105,0	18	1	0	0
chrX	126820667	126820667	G	A	exonic	PRR32	.	nonsynonymous SNV	PRR32:NM_001122716:exon2:c.G29A:p.G10E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00614455931827	.	.	.	.	.	.	.	.	.	.	.	.	.	rs868288885	8.551e-06	8.195e-06	8.461e-06	8.737e-06	0.0002	4.02e-06	2.91e-06	5.442e-05	3.218e-05	0.0002	0	0	0	0	0	0	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.061	0.45530	T	0.017	0.17573	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	1.32	0.35219	T	-5.19	0.83625	D	0.099	0.08088	-1.0192	0.23975	T	0.049	0.20987	T	9	0.061819643	0.07811	T	0.006145	0.16082	T	0.021	0.04004	0.38	0.39645	0.167679373172	0.16340	0.0703167748303388	0.06968	.	.	.	.	.	0.041936	0.26020	T	-0.362579	0.03986	T	-0.758596	0.03163	T	0.0626797899603844	0.07585	T	0.475652	0.14239	T	0.31680313	0.54368	0.2570417	0.51414	0.31680313	0.54368	0.2570417	0.51413	-3.617	0.18103	T	.	.	0.149	0.32969	B	.	.	-0.017041	0.04166	1.003	0.73609638207637418	0.10390	0.01272	0.04451	N	AEFI	.	.	.	.	.	.	.	.	.	7.56925031813378E-5	0.04552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.24	-3.42	0.04521	-0.281000	0.08489	0.122000	0.14930	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4861:0.1399:0.2301:0.1439	1.897	0.03062	937	0.14592	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1510.81	34	chrX	126820667	.	G	A	1510.81	.	AC=2;AF=0.053;AN=38;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.48;SOR=0.963	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1538,144,0	18	1	0	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:34,17:57:27:27,0,445	2	0	17	0
chrX	149932557	149932557	C	T	exonic	EOLA2	.	nonsynonymous SNV	EOLA2:NM_001013845:exon5:c.G464A:p.G155E	.	443	1063	11	5	0	21	0.00978109	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0046	.	0.0072	0.0019	0.0010	0	0.0260	0.0098	0.0142	0.0015	0.0002717	42	154602	rs62612596	0.0090	0.0090	0.0090	0.0089	0.0095	0.0088	0.0088	0.0093	0.0092	0.0012	0.0010	0.0062	0	0.0298	0.0061	0.0095	0.0081	0.0014	0.0065	0.0069	0.0066	0.0063	0.0088	0.0061	0.0060	0.0081	0.0078	0.0012	0.0104	0.0023	0.0042	0	0.0295	0.0143	0.0088	0.0035	0.0004	0.218	0.19090	T	0.355	0.17217	T	0.022	0.18677	B	0.012	0.16012	B	0.497974	0.11982	N	0.751280	1	0.19694	N	-0.075	0.04822	N	1.89	0.23688	T	0.7	0.02163	N	0.031	0.00770	-0.9708	0.37030	T	0.016	0.06664	T	10	0.0025525987	0.00039	T	.	.	.	0.015	0.02232	.	.	0.043077524339	0.03247	0.46391181987993696	0.46310	0.809143592112	0.66660	.	.	.	0.003343	0.02748	T	-0.849213	0.00003	T	-0.990416	0.00158	T	0.00112221236122483	0.00011	T	0.419458	0.11115	T	0.04656405	0.07814	0.097568035	0.23228	0.04656405	0.07814	0.097568035	0.23228	-3.266	0.13302	T	.	.	0.082	0.08948	B	.;.;.	.;.;.	0.825164	0.11966	8.525	0.88900545417983212	0.18347	0.01427	0.04807	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.581531218472406	0.21575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.35	0.89	0.18352	0.177000	0.16615	.	.	0.454000	0.21428	0.006000	0.17386	0.000000	0.08366	0.526000	0.29613	0.0:0.385:0.0:0.615	4.158	0.09735	484	0.77165	.;.;.	.	.	.	.	.	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	0.007591	0.000000	0.009276	0.000000	0.000000	0.000000	0.013274	0.015789	0.05556	1386.59	33	chrX	149932557	.	C	T	1386.59	.	AC=2;AF=0.056;AN=36;DP=616;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.056;MQ=42.53;QD=34.66;SOR=4.021	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1413,120,0	17	1	0	1
chrX	154534419	154534419	G	A	exonic	G6PD	.	nonsynonymous SNV	G6PD:NM_000402:exon6:c.C653T:p.S218F,G6PD:NM_001042351:exon6:c.C563T:p.S188F,G6PD:NM_001360016:exon6:c.C563T:p.S188F	Favism, Autosomal dominant;Hemolytic anemia due to G6PD deficiency, X-linked recessive	1	1326	123	72	0	267	0.0914697	.	.	YES	25407	not_provided|Anemia,_nonspherocytic_hemolytic,_due_to_G6PD_deficiency|Malaria,_susceptibility_to|G6PD_CAGLIARI|G6PD_MEDITERRANEAN|G6PD_SASSARI|G6PD_deficiency|Inborn_genetic_diseases|See_cases|G6PD_deficient_hemolytic_anemia|G6PD-related_disorder|Hemolytic_anemia,_G6PD_deficient_(favism)	MedGen:C3661900|MONDO:MONDO:0010480,MedGen:C2720289,OMIM:300908,Orphanet:466026|MONDO:MONDO:0021024,MedGen:C1970028,OMIM:611162,Orphanet:673|.|.|.|MONDO:MONDO:0005775,MedGen:C2939465|MeSH:D030342,MedGen:C0950123|.|.|.|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.811	.	0.0007	0.000794702	0.0027	0.0004	0.0006	0	0	0.0011	0.0112	0.0160	0.0024838	384	154602	rs5030868	0.0015	0.0015	0.0011	0.0023	0.0435	0.0014	0.0014	0.0383	0.0363	0.0003	2.842e-05	0.0055	0	0	0.0435	0.0002	0.0032	0.0189	0.0007	0.0008	0.0006	0.0011	0.0149	0.0006	0.0005	0.0113	0.0100	0.0001	0	0	0.0060	0	0	0.0138	0.0002	0.0046	0.0149	0.017	0.52492	D	0.008	0.67890	D	0.022	0.18677	B	0.039	0.23607	B	0.000101	0.50451	D	0.177639	1	0.81001	D	3.42	0.91902	M	-4.87	0.98279	D	-4.22	0.75935	D	0.562	0.70615	0.957	0.96492	D	0.933	0.97805	D	10	0.012398928	0.00267	T	.	.	.	0.811	0.93892	.	.	0.989763325404	0.98964	0.927394258905308	0.92717	0.202134561341	0.22635	0.361571013927	0.19615	T	0.958441	0.99448	D	0.148364	0.69115	D	0.453964	0.93676	D	0.128705447749552	0.15261	T	0.953605	0.82399	D	0.90304965	0.91658	0.8944889	0.94585	0.9519563	0.96465	0.8714105	0.92964	-11.526	0.83968	D	0.6452008465600814	0.71653	0.361	0.69938	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.714215	0.53042	23.3	0.99560193252273865	0.71707	0.94225	0.60494	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999999995	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.65	5.65	0.86881	5.542000	0.66927	9.812000	0.81753	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.929	0.79431	80	0.96670	Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;.;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding;Glucose-6-phosphate dehydrogenase, NAD-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.025694	0.000000	0.007421	0.075099	0.000000	0.023529	0.013274	0.047368	0.1316	6506.33	38	chrX	154534419	.	G	A	6506.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.19;DP=872;ExcessHet=0;FS=0.472;InbreedingCoeff=0.7697;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=21.54;ReadPosRankSum=0.8;SOR=0.732	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2477,234,0	16	2	1	0